After exome sequencing, a bioinformatic analysis targeted on a gene panel related to the patient’s pathology is performed. Panels include genes for which mutations are recognized in the scientific literature to cause the ondition in question; they are regularly updated according to the state-of-the-art of medical knowledge.
Panels can be combined if the differential diagnostic is wide. Furthermore, it is possible de create upon request a custom gene panel according to the patient’s clinical picture.
Do not hesitate to contact us for any complementary information.
Cardiology
Cardiomyopathy111 genes
Nom et numéro du panel : Cardiomyopathy MDG-1001.01
Gènes inclus dans le panel :
A2ML1
ABCC9
ACADVL
ACTC1
ACTN2
AGL
ALMS1
ALPK3
ANKRD1
BAG3
BRAF
CACNA1C
CALR3
CAV3
CBL
CHRM2
CPT2
CRYAB
CSRP3
CTF1
CTNNA3
DES
DMD
DNAJC19
DOLK
DSC2
DSG2
DSP
DTNA
ELAC2
EMD
EYA4
FHL1
FHL2
FKRP
FKTN
FLNC
GAA
GATA4
GATA6
GATAD1
GLA
HCN4
HRAS
ILK
JPH2
JUP
KRAS
LAMA4
LAMP2
LDB3
LMNA
LRRC10
MAP2K1
MAP2K2
MED12
MIB1
MTO1
MYBPC3
MYH6
MYH7
MYL1
MYL2
MYL3
MYLK2
MYOM1
MYOZ2
MYPN
NEBL
NEXN
NF1
NKX2-5
NPPA
NRAS
PDLIM3
PKP2
PLEKHM2
PLN
PRDM16
PRKAG2
PSEN1
PSEN2
PTPN11
RAF1
RASA1
RBM20
RIT1
RRAS
RYR2
SCN5A
SDHA
SGCD
SHOC2
SLC22A5
SOS1
SOS2
SPRED1
TAZ
TCAP
TGFB3
TMEM43
TMEM70
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TTN
TTR
TXNRD2
VCL
Arrhythmia77 genes
Nom et numéro du panel : Arrhythmia MDG-1002.00
Gènes inclus dans le panel :
ABCC9
ACTN2
AKAP9
ANK2
ANKRD1
CACNA1C
CACNA2D1
CACNB2
CALM1
CALM2
CALM3
CASQ2
CAV3
CTNNA3
DEPDC5
DES
DPP6
DSC2
DSG2
DSP
EMD
FLNC
GJA5
GNAI2
GPD1L
HCN4
JUP
KCNA5
KCND3
KCNE1
KCNE2
KCNE3
KCNE5
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNK3
KCNQ1
KCNQ2
KCNQ3
KCNT1
LDB3
LMNA
MYH6
MYL4
NKX2-5
NOS1AP
NPPA
PCDH19
PDLIM3
PKP2
PLN
PRKAG2
PRRT2
RANGRF
RBM20
RYR2
SCN10A
SCN1A
SCN1B
SCN2B
SCN3B
SCN4B
SCN5A
SCN8A
SCN9A
SLC2A1
SLMAP
SNTA1
TGFB3
TMEM43
TNNI3
TNNT2
TRDN
TRPM4
TTN
Aorta and Connective Tissue62 genes
Nom et numéro du panel : Aorta and Connective Tissue MDG-1004.00
Gènes inclus dans le panel :
ABCC6
ACTA2
ACVR1
ADAMTS2
ALDH18A1
ATP6V0A2
ATP7A
B3GALT6
B4GALT7
BGN
CBS
CHST14
COL11A1
COL11A2
COL12A1
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL5A1
COL5A2
COL9A1
COL9A2
CRTAP
DSE
EFEMP2
ELN
FBLN5
FBN1
FBN2
FKBP14
FLNA
FOXE3
GORAB
LOX
LTBP4
MAT2A
MED12
MFAP5
MYH11
MYLK
NOTCH1
P3H1
PLOD1
PLOD3
PRDM5
PRKG1
PYCR1
RIN2
SKI
SLC2A10
SLC39A13
SMAD3
SMAD4
SMAD6
TGFB2
TGFB3
TGFBR1
TGFBR2
TNXB
ZNF469
Pulmonary Hypertension13 genes
Nom et numéro du panel : Pulmonary Hypertension MDG-1006.00
Gènes inclus dans le panel :
ACVRL1
BMPR1B
BMPR2
CAV1
EIF2AK4
ENG
FOXF1
GDF2
KCNA5
KCNK3
RASA1
SMAD4
SMAD9
Ciliopathies
Primary ciliary dyskinesia36 genes
Nom et numéro du panel : Primary ciliary dyskinesia MDG-2214.00
Gènes inclus dans le panel :
ARMC4
CCDC103
CCDC114
CCDC151
CCDC39
CCDC40
CCDC65
CCNO
CFAP298
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH1
DNAH11
DNAH5
DNAI1
DNAI2
DNAJB13
DNAL1
DRC1
GAS8
HYDIN
LRRC6
MCIDAS
NME8
OFD1
PIH1D3
RPGR
RSPH1
RSPH3
RSPH4A
RSPH9
SPAG1
ZMYND10
Cystic Kidney Disease69 genes
Nom et numéro du panel : Cystic Kidney Disease MDG-1602.01
Gènes inclus dans le panel :
ADAMTS9
AHI1
ANKS6
ARL13B
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS9
BICC1
CC2D2A
CCDC28B
CEP164
CEP290
CEP41
COL4A1
CPLANE1
CRB2
DZIP1L
ETFA
GANAB
GLA
GLIS2
HNF1B
INPP5E
INVS
IQCB1
KIF7
LRP5
MKS1
MUC1
NEK8
NPHP1
NPHP3
NPHP4
OFD1
PAX2
PKD1
PKD2
PKHD1
PMM2
PRKCSH
REN
RPGRIP1L
SALL1
SDCCAG8
SEC61A1
SEC63
TCTN1
TCTN3
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TRIM32
TSC1
TSC2
TTC21B
TTC8
UMOD
VHL
WDPCP
WDR19
XPNPEP3
ZNF423
Ciliopathies200 genes
Nom et numéro du panel : Ciliopathies MDG-2201.00
Gènes inclus dans le panel :
ACVR2B
ADGRV1
AGPAT2
AHI1
AIPL1
ALMS1
ANKS6
ARL13B
ARL6
ARMC4
ARMC9
ATXN10
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
C2CD3
C2orf71
C8orf37
CC2D2A
CCDC103
CCDC114
CCDC151
CCDC28B
CCDC39
CCDC40
CCDC65
CCNO
CDH23
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP55
CEP83
CFAP298
CFAP43
CFAP44
CFAP53
CFC1
CFTR
CLRN1
CPLANE1
CRB1
CRB2
CRELD1
CRX
CSPP1
DCDC2
DDX59
DHCR7
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH1
DNAH11
DNAH5
DNAH8
DNAI1
DNAI2
DNAJB13
DNAL1
DNHD1
DRC1
DYNC2H1
DYNC2LI1
EVC
EVC2
EXOC8
FOXH1
GAS8
GDF1
GLI3
GLIS2
GUCY2D
HNF1B
HYDIN
HYLS1
IFT122
IFT140
IFT172
IFT27
IFT43
IFT52
IFT74
IFT80
IFT81
IMPDH1
INPP5E
INVS
IQCB1
KCNJ13
KIAA0556
KIAA0586
KIAA0753
KIF14
KIF7
LBR
LCA5
LEFTY2
LRAT
LRRC56
LRRC6
LZTFL1
MAPKBP1
MCIDAS
MKKS
MKS1
MRE11
MUC1
MYO7A
NEK1
NEK8
NKX2-5
NME8
NODAL
NPHP1
NPHP3
NPHP4
OCRL
OFD1
PCDH15
PDE6D
PIBF1
PIH1D3
PKD1
PKD2
PKHD1
PMM2
POC1A
POC1B
PRKCSH
RD3
RDH12
RPE65
RPGR
RPGRIP1
RPGRIP1L
RSPH1
RSPH3
RSPH4A
RSPH9
SBDS
SCLT1
SCNN1A
SCNN1B
SCNN1G
SDCCAG8
SEC63
SPAG1
SPATA7
TAPT1
TBC1D32
TCTN1
TCTN2
TCTN3
TMEM107
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TOPORS
TRAF3IP1
TRIM32
TSC1
TSC2
TTBK2
TTC21B
TTC8
TULP1
UMOD
USH1C
USH1G
USH2A
VHL
VPS13B
WDPCP
WDR19
WDR34
WDR35
WDR60
WDR63
WHRN
XPNPEP3
ZIC3
ZMYND10
ZNF423
ZSWIM6
Dermatology
Ectodermal dysplasia60 genes
Nom et numéro du panel : Ectodermal dysplasia MDG-1905.00
Gènes inclus dans le panel :
ABCA12
AIRE
ALOX12B
ALOXE3
APCDD1
C2
C5
CDH3
CDSN
CERS3
CLDN1
CYBB
CYP4F22
DSC3
DSG4
DSP
EDA
EDAR
EDARADD
GJB2
GJB6
HLA-DRA
HOXC13
HR
IFT122
IFT43
ITGA6
ITGB4
KREMEN1
KRT14
KRT71
KRT74
KRT85
LIPH
LIPN
LPAR6
MBTPS2
MSX1
NECTIN1
NECTIN4
NFKB2
NFKBIA
NIPAL4
PKP1
PLEC
PNPLA1
PORCN
PPARG
RMRP
RPL21
SDR9C7
SNRPE
ST14
TGM1
TP63
TSPEAR
TSPYL2
WDR19
WDR35
WNT10A
Urticaria and angioedema10 genes
Nom et numéro du panel : Urticaria and angioedema MDG-1710.00
Gènes inclus dans le panel :
ADGRE2
CPN1
F12
KIT
NLRC4
NLRP12
NLRP3
PLCG2
SERPING1
XPNPEP2
Rendu-Osler Disease6 genes
Nom et numéro du panel : Rendu-Osler disease MDG-1904.01
Gènes inclus dans le panel :
ACVRL1
ENG
EPHB4
GDF2
RASA1
SMAD4
Angiokeratoma8 genes
Nom et numéro du panel : Angiokeratoma MDG-1903.00
Gènes inclus dans le panel :
AGA
CTSA
FUCA1
GLA
GLB1
MANBA
NAGA
NEU1
Skin Tumors Susceptibility30 genes
Nom et numéro du panel : Skin Tumors Susceptibility MDG-1902.00
Gènes inclus dans le panel :
AKT1
BAP1
BRCA1
BRCA2
CDK4
CDKN2A
EPCAM
FLCN
KLLN
MC1R
MITF
MLH1
MSH2
MSH6
NF2
PIK3CA
PMS2
POT1
PTCH1
PTCH2
PTEN
RB1
SDHB
SDHD
SMARCB1
SUFU
TERT
TP53
TSC1
TSC2
Skin Disorders Including Tumors411 genes
Nom et numéro du panel : Skin Disorders Including Tumors MDG-1901.00
Gènes inclus dans le panel :
A2ML1
AAGAB
ABCA12
ABCB6
ABCC6
ABHD5
ACD
ACTA2
ACVRL1
ADAM10
ADAMTS2
ADAR
AIRE
AKT1
AKT3
ALAS2
ALDH18A1
ALDH3A2
ALMS1
ALOX12B
ALOXE3
ANTXR1
AP1S1
AP1S3
AP3B1
APCDD1
AQP5
ATM
ATP2A2
ATP2C1
ATP6V0A2
ATP7A
ATXN2
AXIN2
B3GALT6
B4GALT7
BANF1
BCS1L
BLM
BLOC1S3
BLOC1S6
BRAF
BRCA2
BRIP1
BTD
C2
C5
CARD11
CARD14
CAST
CBL
CCBE1
CCM2
CCND1
CCND2
CD151
CDH3
CDSN
CERS3
CHST14
CHST8
CLDN1
COL17A1
COL1A1
COL1A2
COL3A1
COL4A1
COL5A1
COL5A2
COL7A1
CSTA
CTC1
CTSC
CYBB
CYLD
CYP26C1
CYP27A1
CYP4F22
DDB2
DES
DKC1
DLX3
DOCK8
DSC2
DSC3
DSE
DSG1
DSG2
DSG4
DSP
DST
DSTYK
DTNBP1
EBP
ECM1
EDA
EDAR
EDARADD
EDN3
EDNRB
EFEMP2
EHHADH
ELN
ELOVL4
ENG
ENPP1
EPG5
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
EXPH5
FAM83G
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAT4
FBLN5
FBN1
FBN2
FDPS
FECH
FERMT1
FGF10
FGFR1
FGFR2
FGFR3
FKBP14
FLCN
FLG
FLT4
FOXC2
GATA2
GDF2
GJA1
GJB2
GJB3
GJB4
GJB6
GJC2
GLA
GNAQ
GORAB
GPR143
GRHL2
GRHL3
GTF2H5
HAMP
HCCS
HFE
HJV
HLA-C
HLA-DRA
HLCS
HOXC13
HPS1
HPS3
HPS4
HPS5
HPS6
HR
HRAS
IDS
IDUA
IFT122
IFT43
IKBKG
IL12RB1
IL21R
IL22
IL36RN
IRF6
ITGA3
ITGA6
ITGB4
JUP
KANK2
KCTD1
KDSR
KIF11
KIT
KITLG
KLHL24
KLLN
KRAS
KREMEN1
KRIT1
KRT1
KRT10
KRT14
KRT16
KRT17
KRT2
KRT5
KRT6A
KRT6B
KRT6C
KRT71
KRT74
KRT81
KRT83
KRT85
KRT86
KRT9
LAMA3
LAMB3
LAMC2
LIPH
LIPN
LMNA
LOR
LPAR6
LRMDA
LTBP3
LTBP4
LYST
LZTR1
MAP2K1
MAP2K2
MAT2A
MBTPS2
MC1R
MEF2C
MEFV
MFAP5
MITF
MLH1
MLPH
MMP1
MPLKIP
MRE11
MSH2
MSH6
MSMO1
MSX1
MT-TS1
MVD
MVK
MYH11
MYLK
MYO5A
NCSTN
NECTIN1
NECTIN4
NF1
NF2
NFKB2
NFKBIA
NHP2
NIPAL4
NLRP3
NOD2
NOP10
NRAS
NSDHL
OCA2
OFD1
PAH
PALB2
PARN
PAX3
PAX9
PCNA
PDCD10
PDGFRB
PEX7
PGM3
PHYH
PIGL
PIK3CA
PIK3R2
PKP1
PLA2G7
PLEC
PLOD1
PLOD3
PMS2
PMVK
PNPLA1
POFUT1
POGLUT1
POLD1
POLH
POMP
PORCN
PPARG
PPP1CB
PRDM5
PRKAR1A
PRKG1
PSEN1
PSENEN
PSTPIP1
PTCH1
PTCH2
PTDSS1
PTEN
PTPN11
PYCR1
RAB27A
RAD51C
RAF1
RASA1
RASA2
RECQL4
RHBDF2
RIN2
RIT1
RMRP
RPL21
RRAS
RSPO1
RTEL1
SART3
SASH1
SDHB
SDHD
SDR9C7
SERPINB7
SERPINB8
SERPING1
SHOC2
SKI
SLC17A9
SLC27A4
SLC2A10
SLC2A2
SLC34A1
SLC39A13
SLC39A4
SLC40A1
SLC45A2
SLC6A19
SLURP1
SLX4
SMAD3
SMAD4
SMARCAD1
SMARCB1
SNAI2
SNAP29
SNRPE
SOS1
SOS2
SOX10
SOX18
SPINK5
SPRED1
SSH1
ST14
ST3GAL5
STAMBP
STAT2
STAT3
STK11
STS
SUFU
SULT2B1
SUMF1
TAT
TERC
TERT
TFR2
TGFB2
TGFB3
TGFBR1
TGFBR2
TGM1
TGM5
TINF2
TNF
TNXB
TP63
TRAF3IP2
TREX1
TRPS1
TRPV3
TSC1
TSC2
TSPYL2
TWIST2
TYK2
TYR
TYRP1
UBR1
USB1
UVSSA
VEGFC
VHL
VPS33B
WDR19
WDR35
WNT10A
WRAP53
WRN
XPA
XPC
XYLT1
XYLT2
ZMPSTE24
ZNF469
ZNF750
Oculocutaneous Albinism19 genes
Nom et numéro du panel : Oculocutaneous Albinism MDG-1109.00
Gènes inclus dans le panel :
AP3B1
AP3D1
BLOC1S3
BLOC1S6
DTNBP1
GPR143
HPS1
HPS3
HPS4
HPS5
HPS6
LRMDA
LYST
OCA2
SLC24A5
SLC38A8
SLC45A2
TYR
TYRP1
Endocrinology
Hypogonadotropic hypogonadism46 genes
Nom et numéro du panel : Hypogonadotropic hypogonadism MDG-2112.00
Gènes inclus dans le panel :
ANOS1
CCDC141
CHD7
CUL4B
DCAF17
DUSP6
FEZF1
FGF17
FGF8
FGFR1
FLRT3
FSHB
GLI2
GNRH1
GNRHR
HAMP
HESX1
HFE
HJV
HS6ST1
IL17RD
KISS1
KISS1R
KLB
LHB
LHCGR
LHX3
LHX4
NR0B1
NSMF
PROK2
PROKR2
PROP1
SEMA3A
SEMA3E
SEMA7A
SLC29A3
SLC40A1
SOX10
SOX2
SOX3
SPRY4
TAC3
TACR3
TFR2
WDR11
Congenital adrenal hyperplasia14 genes
Nom et numéro du panel : Congenital adrenal hyperplasia MDG-2111.01
Gènes inclus dans le panel :
ARMC5
CYP11A1
CYP11B1
CYP17A1
CYP21A2
FSHR
HSD3B2
KCNJ5
NR3C1
PDE8B
POR
PRKACA
PRKAR1A
STAR
Pheochromocytoma/paraganglioma17 genes
Nom et numéro du panel : Pheochromocytoma/paraganglioma MDG-2110.01
Gènes inclus dans le panel :
DLST
EGLN1
EGLN2
EPAS1
FH
IDH1
KIF1B
MAX
NF1
RET
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127
VHL
Primary hyperparathyroidism12 genes
Nom et numéro du panel : Primary hyperparathyroidism MDG-2108.02
Gènes inclus dans le panel :
AIP
AP2S1
CASR
CDC73
CDKN1A
CDKN1B
CDKN2B
CDKN2C
GCM2
GNA11
MEN1
RET
Monogenic obesity including syndromic48 genes
Nom et numéro du panel : Monogenic obesity including syndromic MDG-2107.00
Gènes inclus dans le panel :
AFF4
AKR1C2
ALMS1
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CEP19
CEP290
CPE
CUL4B
DYRK1B
GNAS
IFT172
IFT74
INPP5E
KIDINS220
KSR2
LEP
LEPR
MAGEL2
MC4R
MKKS
MKS1
MRAP2
MYT1L
NR0B2
NTRK2
PCSK1
PHF6
POMC
PPARG
PRMT7
SDCCAG8
SETD2
SH2B1
SIM1
TRIM32
TTC8
TUB
UCP3
VPS13B
WDPCP
Diabetes and Insulin Resistance72 genes
Nom et numéro du panel : Diabetes and Insulin Resistance MDG-2102.00
Gènes inclus dans le panel :
ABCC8
AGPAT2
AGPS
AKT2
ALMS1
BLK
BLM
BSCL2
CAV1
CAVIN1
CEL
CIDEC
CISD2
DCAF17
DMXL2
EIF2AK3
ENPP1
FGFR3
FOXC2
FOXP3
GATA4
GATA6
GCK
GLIS3
HAMP
HFE
HJV
HNF1A
HNF1B
HNF4A
IER3IP1
IL2RA
INS
INSR
KCNJ11
KLF11
LIPC
LMNA
LRBA
MNX1
MT-TL1
NEUROD1
NEUROG3
NKX2-2
NSMCE2
PAX4
PCBD1
PCNT
PCYT1A
PDX1
PIK3R1
PLIN1
POC1A
POLD1
PPARG
PPP1R3A
PSMB8
PTF1A
RFX6
SLC19A2
SLC29A3
SLC2A2
SLC40A1
STAT1
STAT3
TFR2
TRMT10A
WFS1
WRN
ZBTB20
ZFP57
ZMPSTE24
Hypothalamic and Pituitary Disorders43 genes
Nom et numéro du panel : Hypothalamic and Pituitary Disorders MDG-2106.00
Gènes inclus dans le panel :
ANOS1
CHD7
CUL4B
DCAF17
DUSP6
FEZF1
FGF17
FGF8
FGFR1
FLRT3
FSHB
GLI2
GNRH1
GNRHR
HAMP
HESX1
HFE
HJV
HS6ST1
IL17RD
KISS1
KISS1R
LHB
LHCGR
LHX3
LHX4
NR0B1
NSMF
PROK2
PROKR2
PROP1
SEMA3A
SEMA3E
SEMA7A
SLC29A3
SLC40A1
SOX10
SOX2
SPRY4
TAC3
TACR3
TFR2
WDR11
Intrauterine Growth Restriction (IUGR)109 genes
Nom et numéro du panel : Intrauterine Growth Restriction (IUGR) MDG-2105.00
Gènes inclus dans le panel :
ACAN
ANKRD11
ATRIP
ATRX
BLM
BRAF
BTK
CBL
CCDC8
CDC6
CDKN1C
CDT1
CENPJ
CHD7
CREBBP
CRIPT
CUL7
DHCR7
DNA2
DOK7
EP300
EPHX1
ERCC6
ERCC8
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FGD1
FGF8
FGFR1
GH1
GHR
GHRHR
GHSR
GLI2
GLI3
GPR161
H19
HDAC8
HESX1
HRAS
IFT172
IGF1
IGF1R
IGF2
IGFALS
INSR
KDM6A
KMT2D
KRAS
LHX3
LHX4
LIG1
LIG4
MAP2K1
MAP2K2
MCM5
NBN
NIPBL
NRAS
OBSL1
ORC1
ORC4
ORC6
OTX2
PAPPA2
PCNT
PIK3R1
PITX2
PNPLA6
POU1F1
PROKR2
PROP1
PTPN11
RAD21
RAF1
RAPSN
RBBP8
RIT1
RNPC3
RNU4ATAC
ROR2
RPL10
RPS6KA3
SAMD9
SHOC2
SHOX
SHOX2
SMARCAL1
SMC1A
SMC3
SOS1
SOX2
SOX3
SRCAP
STAT5B
TBCE
THRB
TRIM37
WRN
XRCC4
ZFP57
Disorders of Sex Development51 genes
Nom et numéro du panel : Disorders of Sex Development MDG-2103.00
Gènes inclus dans le panel :
AKR1C2
AR
ARX
ATP6V0A4
ATRX
CBX2
CDKN1C
CHD7
CUL4B
CYB5A
CYP11A1
CYP11B1
CYP17A1
CYP19A1
CYP21A2
DGKQ
DHCR7
DHH
DMRT1
ERAL1
GATA4
GLI2
HHAT
HSD17B2
HSD17B3
HSD3B2
INPP5E
LHCGR
MAMLD1
MAP3K1
MCM5
NR0B1
NR5A1
PAX6
POR
RPL10
RSPO1
SAMD9
SEMA3E
SGPL1
SOX10
SOX9
SRD5A2
SRY
STAR
TAF4B
TOE1
TSPYL1
TWIST2
WT1
ZFPM2
Gastroenterology
Liver Diseases135 genes
Nom et numéro du panel : Liver Diseases MDG-2301.01
Gènes inclus dans le panel :
ABCB11
ABCB4
ABCC2
ABCD3
ABCG5
ABCG8
ACADM
ACADVL
ADK
AGL
AKR1D1
ALAD
ALDOB
AMACR
ASL
ASS1
ATP7B
ATP8B1
BAAT
BCS1L
CC2D2A
CCDC115
CCDC47
CFTR
CLDN1
COG1
COG6
COG7
CPS1
CPT1A
CPT2
CYP27A1
CYP7A1
CYP7B1
DCDC2
DGUOK
DHCR7
DLD
EIF2AK3
EPHX1
ETFA
ETFB
ETFDH
FAH
FARS2
FBP1
G6PC
GAA
GALE
GALT
GBA
GBE1
GFM1
GYS2
HADHA
HFE
HMGCL
HNF1B
HSD3B7
IARS
INVS
JAG1
KRT18
KRT8
LARS
LIPA
MKS1
MPI
MPV17
MRPS16
MYO5B
NBAS
NGLY1
NOTCH2
NPC1
NPC2
NPHP1
NPHP3
NPHP4
NR1H4
OTC
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGM1
PHKA1
PHKA2
PHKB
PHKG2
PKD2
PKHD1
PKLR
PMM2
POLG
PYGL
RPGRIP1L
SBDS
SCO1
SERPINA1
SLC10A2
SLC25A13
SLC25A20
SLC27A5
SLC2A2
SLC37A4
SLC39A8
SLCO1B1
SLCO1B3
SMPD1
STT3B
SUCLG1
TJP2
TMEM216
TMEM67
TRMU
TSFM
TTC37
TWNK
TYMP
UTP4
VIL1
VIPAS39
VPS33B
ZIC3
Familial Hirschsprung Disease24 genes
Nom et numéro du panel : Familial Hirschsprung Disease MDG-2302.00
Gènes inclus dans le panel :
CELSR3
DENND3
DHCR7
ECE1
EDN3
EDNRB
GDNF
GFRA1
KIF1BP
L1CAM
NCLN
NKX2-1
NRG1
NRG3
NRTN
NUP98
PHOX2B
RET
SEMA3C
SEMA3D
SOX10
TBATA
VCL
ZEB2
Hematology
Hemolytic and uremic syndrome12 genes
Nom et numéro du panel : Hemolytic and uremic syndrome MDG-1507.00
Gènes inclus dans le panel :
ADAMTS13
C3
C5
CD46
CFB
CFH
CFHR1
CFHR3
CFHR5
CFI
DGKE
THBD
Rendu-Osler Disease6 genes
Nom et numéro du panel : Rendu-Osler disease MDG-1904.01
Gènes inclus dans le panel :
ACVRL1
ENG
EPHB4
GDF2
RASA1
SMAD4
Hemolytic anemia26 genes
Nom et numéro du panel : Hemolytic anemia MDG-1506.00
Gènes inclus dans le panel :
AK1
ANK1
BPGM
ENO1
EPB41
EPB42
G6PD
GCLC
GPI
GPX1
GSR
GSS
HBA1
HBA2
HBB
HK1
KCNN4
NT5C3A
PGK1
PIEZO1
PKLR
RHAG
SLC4A1
SPTA1
SPTB
TPI1
Haematological Malignancies Susceptibility89 genes
Nom et numéro du panel : Haematological Malignancies Susceptibility MDG-1806.00
Gènes inclus dans le panel :
ACD
ANKRD26
ATM
BLM
BRCA1
BRCA2
BRIP1
CBL
CEBPA
CTC1
DDX41
DKC1
DOCK8
ELANE
ERCC4
ETV6
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAS
GATA1
GATA2
GBA
HAX1
ITK
LIG4
MAD2L2
MLH1
MSH2
MSH6
NAF1
NBN
NF1
NHP2
NOP10
PALB2
PARN
PAX5
PMS2
PRF1
PTPN11
RAD51
RAD51C
RMRP
RPL11
RPL15
RPL23
RPL26
RPL27
RPL31
RPL35A
RPL36
RPL5
RPS10
RPS15
RPS17
RPS19
RPS24
RPS26
RPS27
RPS27A
RPS28
RPS29
RPS7
RTEL1
RUNX1
SAMD9L
SBDS
SH2B3
SH2D1A
SLX4
STAT3
STN1
TERC
TERT
TINF2
TP53
TSR2
UBE2T
WAS
WRAP53
XRCC2
Bleeding Disorders108 genes
Nom et numéro du panel : Bleeding Disorders MDG-1505.00
Gènes inclus dans le panel :
ABCG5
ABCG8
ACTN1
ADAMTS13
ANKRD26
ANO6
AP3B1
AP3D1
APOH
ARPC1B
BLOC1S3
BLOC1S6
CHST14
COL1A1
COL2A1
COL5A1
COL5A2
CYCS
DIAPH1
DTNBP1
ETV6
F10
F11
F12
F13A1
F13B
F2
F5
F7
F8
F9
FERMT3
FGA
FGB
FGG
FLI1
FLNA
FYB1
GATA1
GFI1B
GGCX
GNE
GP1BA
GP1BB
GP6
GP9
HABP2
HOXA11
HPS1
HPS3
HPS4
HPS5
HPS6
HRG
IFNAR2
ITGA2B
ITGB3
KDSR
KNG1
LAT
LMAN1
LPA
LYST
MCFD2
MECOM
MPIG6B
MPL
MTHFR
MYH9
NBEA
NBEAL2
ORAI1
P2RY12
PLA2G4A
PLAT
PLAU
PLG
PROC
PROCR
PROS1
PROZ
PTPN11
RASGRP2
RBM8A
RNU4ATAC
RUNX1
SERPINA10
SERPINC1
SERPIND1
SERPINE1
SERPINF2
SLC45A2
SLFN14
SRC
STIM1
STXBP2
TBXA2R
TBXAS1
TFPI
THBD
THPO
TPM4
TUBB1
VIPAS39
VKORC1
VPS33B
VWF
WAS
Erythrocytes Anemias and Cytopenias222 genes
Nom et numéro du panel : Erythrocytes Anemias and Cytopenias MDG-1504.00
Gènes inclus dans le panel :
ABCB7
ABL1
ACSL6
ADAMTS13
AK1
ALAS2
ALDOA
AMN
ANK1
ANKRD26
ANKRD34A
ANKRD35
ARHGAP26
ASXL1
ATRX
BAAT
BCOR
BCORL1
BRAF
BRCA1
BRCA2
BRIP1
C15orf41
CALR
CBL
CBLB
CBLC
CD36
CD59
CDAN1
CDKN2A
CEBPA
COX4I2
CSF3R
CTC1
CUBN
CUX1
CXCR4
CYCS
DHFR
DKC1
DNAJC21
DNMT3A
EGLN1
ELANE
ENO1
EPAS1
EPB41
EPB42
EPHX1
EPOR
ERCC4
ERCC6L2
EZH2
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FBXW7
FCGR3B
FLT3
G6PC3
G6PD
GATA1
GATA2
GCLC
GFI1
GIF
GLRX5
GNAS
GNRHR2
GPI
GPX1
GSR
GSS
HAX1
HBA1
HBA2
HBB
HBD
HBG1
HBG2
HEPH
HJV
HK1
HOXA11
HRAS
IDH1
IDH2
IFNG
IKZF1
IRF1
ITGA10
ITGA2B
ITGB3
JAK2
JAK3
KDM6A
KIF23
KIT
KLF1
KMT2A
KRAS
LAT
LIX1L
LPIN2
MASTL
MPIG6B
MPL
MTR
MTRR
MYD88
MYH9
NBN
NF1
NHP2
NOP10
NOTCH1
NPM1
NRAS
NT5C3A
NUDT1
PALB2
PDGFRA
PEX11B
PFKM
PHF6
PIAS3
PIEZO1
PIGA
PIGT
PKLR
POLR3GL
PRKG1
PTEN
PTPN11
PUS1
RAC2
RAD21
RAD51C
RBM8A
RHAG
RMRP
RPL11
RPL13
RPL15
RPL18
RPL19
RPL26
RPL27
RPL31
RPL35
RPL35A
RPL5
RPL9
RPS10
RPS14
RPS17
RPS19
RPS24
RPS26
RPS27
RPS28
RPS29
RPS7
RTEL1
RUNX1
SAMD9
SAMD9L
SBDS
SEC23B
SETBP1
SF3B1
SH2B3
SH3BP1
SLC11A2
SLC19A2
SLC25A38
SLC2A1
SLC34A1
SLC4A1
SLX4
SMC1A
SMC3
SPTA1
SPTB
SRP72
SRSF2
STAG2
TAZ
TCN2
TERC
TERT
TET2
TF
TINF2
TMPRSS6
TP53
TPI1
TRNT1
TSR2
TUBB1
TXNIP
U2AF1
UBE2T
UROS
USB1
USP18
VHL
VPS45
WAS
WIPF1
WRAP53
WT1
YARS2
ZRSR2
Thrombophilia7 genes
Nom et numéro du panel : Thrombophilia MDG-1502.00
Gènes inclus dans le panel :
F2
F5
F9
MPL
PROC
PROS1
SERPINC1
Bone Marrow Failure88 genes
Nom et numéro du panel : Bone Marrow Failure MDG-1501.00
Gènes inclus dans le panel :
ABCB7
AK2
ALAS2
ANKRD26
BRCA2
BRIP1
CASP10
CBL
CDAN1
CEBPA
CSF3R
CTC1
CXCR4
DKC1
ELANE
ERCC4
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
G6PC3
GATA1
GATA2
GFI1
HAX1
HOXA11
IFNG
JAGN1
KLF1
LIG4
LYST
MASTL
MPL
MRE11
MYH9
NBN
NHP2
NOP10
PALB2
PARN
PRF1
PUS1
RAC2
RAD51C
RPL11
RPL15
RPL26
RPL27
RPL35A
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS27
RPS28
RPS29
RPS7
RTEL1
RUNX1
SBDS
SEC23B
SLC19A2
SLC25A38
SLC35C1
SLC37A4
SLC46A1
SLX4
SRP72
STX11
STXBP2
TCN2
TERC
TERT
TINF2
UBE2T
USB1
VPS45
WAS
WRAP53
XRCC2
Immunology / Rheumatology
Urticaria and angioedema10 genes
Nom et numéro du panel : Urticaria and angioedema MDG-1710.00
Gènes inclus dans le panel :
ADGRE2
CPN1
F12
KIT
NLRC4
NLRP12
NLRP3
PLCG2
SERPING1
XPNPEP2
Immunological disorders308 genes
Nom et numéro du panel : Immunological disorders MDG-1701.02
Gènes inclus dans le panel :
ABCC1
ACD
ACP5
ACTB
ADA
ADA2
ADAM17
ADAR
AICDA
AIRE
AK2
AP3B1
APOL1
ARPC1B
ATM
B2M
BCL10
BLM
BLNK
BLOC1S6
BTK
C1QA
C1QB
C1QC
C1R
C1S
C2
C3
C4A
C4B
C5
C6
C7
C8A
C8B
C8G
C9
CARD11
CARD14
CARD9
CASP10
CASP8
CCBE1
CD19
CD247
CD27
CD3D
CD3E
CD3G
CD4
CD40
CD40LG
CD46
CD59
CD79A
CD79B
CD81
CD8A
CEBPE
CFB
CFD
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CFP
CHD7
CIITA
CLPB
COPA
CORO1A
CR2
CSF2RA
CSF3R
CTC1
CTLA4
CTPS1
CTSC
CXCR4
CYBA
CYBB
DCLRE1B
DCLRE1C
DKC1
DNMT3B
DOCK2
DOCK8
ELANE
ELF4
EPG5
EXTL3
F12
FADD
FAS
FASLG
FCGR3A
FCGR3B
FCN3
FERMT3
FOXN1
FOXP3
FPR1
FUT2
G6PC3
GAD1
GATA1
GATA2
GFI1
HAX1
HDAC4
HTRA2
ICOS
IFIH1
IFNGR1
IFNGR2
IGHM
IGKC
IGLL1
IKBKB
IKBKG
IKZF1
IL10
IL10RA
IL10RB
IL12B
IL12RB1
IL12RB2
IL17A
IL17F
IL17RA
IL17RC
IL18
IL1RN
IL21
IL21R
IL22
IL2RA
IL2RG
IL36RN
IL7R
INO80
IRAK4
IRF7
IRF8
ISG15
ITCH
ITGAM
ITGB2
ITK
JAGN1
JAK3
KRAS
LAMTOR2
LAT
LCK
LIG1
LIG4
LPIN2
LRBA
LRRC8A
LYST
MAGT1
MALT1
MAP3K14
MASP2
MBL2
MCM4
MEFV
MLPH
MOGS
MPO
MRE11
MS4A1
MSH6
MTHFD1
MVK
MYD88
MYO5A
NBN
NCF1
NCF2
NCF4
NFAT5
NFKB1
NFKB2
NFKBIA
NHEJ1
NHP2
NLRC4
NLRP12
NLRP3
NLRP7
NOD2
NOP10
NRAS
ORAI1
PARN
PGM3
PIK3CD
PIK3R1
PLA2G7
PLCG2
PMS2
PNP
POLE
PRF1
PRKCD
PRKDC
PSMB8
PSTPIP1
PTPRC
RAB27A
RAC2
RAD50
RAG1
RAG2
RBCK1
RELB
RFX5
RFXANK
RFXAP
RHOH
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNF168
RNF31
RORC
RPSA
RTEL1
SAMHD1
SART3
SBDS
SEMA3E
SERPING1
SGPL1
SH2D1A
SH3BP2
SLC11A1
SLC29A3
SLC35C1
SLC37A4
SLC46A1
SLC7A7
SMARCAL1
SP110
SPINK5
STAT1
STAT2
STAT3
STAT5B
STIM1
STK4
STX11
STXBP2
TAP1
TAP2
TAPBP
TAZ
TBK1
TBX1
TCF3
TCF4
TCN2
TERC
TERT
TFRC
THBD
TICAM1
TINF2
TIRAP
TLR3
TMC6
TMC8
TMEM173
TNFAIP3
TNFRSF13B
TNFRSF13C
TNFRSF18
TNFRSF1A
TNFRSF4
TNFSF12
TONSL
TPP2
TRAC
TRAF3
TRAF3IP2
TREX1
TRNT1
TTC37
TTC7A
TYK2
UNC119
UNC13D
UNC93B1
UNG
USB1
VPS13B
VPS45
WAS
WIPF1
XIAP
ZAP70
ZBTB24
Periodic Fever11 genes
Nom et numéro du panel : Periodic Fever MDG-1704.00
Gènes inclus dans le panel :
ADA2
LPIN2
MEFV
MVK
NLRC4
NLRP12
NLRP3
NOD2
PSTPIP1
TNFAIP3
TNFRSF1A
Autoinflammatory Syndromes31 genes
Nom et numéro du panel : Autoinflammatory Syndromes MDG-1703.00
Gènes inclus dans le panel :
ADA2
ADAM17
CARD14
COPA
ELANE
IL10
IL10RA
IL10RB
IL1RN
IL21
IL21R
IL36RN
LPIN2
LRBA
MEFV
MVK
NFAT5
NLRC4
NLRP12
NLRP3
NOD2
PLCG2
PSMB8
PSTPIP1
RBCK1
SH3BP2
SLC29A3
TNFRSF1A
TRNT1
TTC7A
XIAP
Adenitis and Autoimmune Lymphoproliferative syndromes (ALPS)16 genes
Nom et numéro du panel : Adenitis and Autoimmune Lymphoproliferative syndromes (ALPS) MDG-1709.00
Gènes inclus dans le panel :
CASP10
CASP8
CTLA4
FADD
FAS
FASLG
ITK
KRAS
LRBA
MAGT1
NRAS
PIK3CD
PRF1
PRKCD
SH2D1A
XIAP
Hyper IgE Syndrome8 genes
Nom et numéro du panel : Hyper IgE Syndrome MDG-1706.00
Gènes inclus dans le panel :
CARD11
DOCK8
IL21R
PGM3
PLA2G7
SPINK5
STAT3
TYK2
Early-Onset Inflammatory Bowel disease18 genes
Nom et numéro du panel : Early-Onset Inflammatory Bowel disease MDG-1708.00
Gènes inclus dans le panel :
CTLA4
EPCAM
FOXP3
IKBKG
IL10
IL10RA
IL10RB
IL2RA
LRBA
MVK
SKIV2L
STAT1
STAT3
STAT5B
TTC37
TTC7A
WAS
XIAP
Monogenic Autoimmunity73 genes
Nom et numéro du panel : Monogenic Autoimmunity MDG-1707.00
Gènes inclus dans le panel :
ACP5
ADA2
ADAR
AICDA
AIRE
AP3B1
BLOC1S6
BTK
CASP10
CASP8
CD27
CD40LG
CR2
CTLA4
CYBA
CYBB
DOCK8
FADD
FAS
FASLG
FOXP3
ICOS
IFIH1
IL10
IL10RA
IL10RB
IL21
IL21R
IL2RA
ITCH
LRBA
LYST
NCF2
NCF4
NFAT5
NFKB2
NFKBIA
ORAI1
PIK3CD
PIK3R1
PLCG2
PNP
PRF1
PRKCD
RAB27A
RAC2
RFX5
RFXANK
RFXAP
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
SH2D1A
SLC7A7
STAT1
STAT3
STAT5B
STIM1
STX11
STXBP2
TBX1
TMEM173
TNFRSF13B
TNFRSF13C
TNFSF12
TPP2
TREX1
UNC13D
UNG
WAS
XIAP
Congenital Neutropaenia17 genes
Nom et numéro du panel : Congenital Neutropaenia MDG-1705.00
Gènes inclus dans le panel :
CSF3R
CXCR4
ELANE
FCGR3B
G6PC3
GATA1
GFI1
HAX1
HTRA2
RAC2
SBDS
SLC37A4
TAZ
TCN2
VPS13B
VPS45
WAS
Antibody Deficiencies49 genes
Nom et numéro du panel : Antibody Deficiencies MDG-1702.00
Gènes inclus dans le panel :
AICDA
BLNK
BTK
CD19
CD27
CD40
CD40LG
CD79A
CD79B
CD81
CR2
CTLA4
CXCR4
DCLRE1C
DKC1
DNMT3B
DOCK8
GATA2
ICOS
IGLL1
IL21
IL21R
IL2RG
JAK3
LRBA
LRRC8A
MOGS
MS4A1
NFKB2
PGM3
PIK3CD
PIK3R1
PLCG2
PRKCD
RAC2
RAG1
RTEL1
SH2D1A
SPINK5
STAT3
STXBP2
TCF3
TCF4
TNFRSF13B
TNFRSF13C
TNFSF12
TRNT1
UNG
XIAP
Haematological Malignancies Susceptibility89 genes
Nom et numéro du panel : Haematological Malignancies Susceptibility MDG-1806.00
Gènes inclus dans le panel :
ACD
ANKRD26
ATM
BLM
BRCA1
BRCA2
BRIP1
CBL
CEBPA
CTC1
DDX41
DKC1
DOCK8
ELANE
ERCC4
ETV6
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAS
GATA1
GATA2
GBA
HAX1
ITK
LIG4
MAD2L2
MLH1
MSH2
MSH6
NAF1
NBN
NF1
NHP2
NOP10
PALB2
PARN
PAX5
PMS2
PRF1
PTPN11
RAD51
RAD51C
RMRP
RPL11
RPL15
RPL23
RPL26
RPL27
RPL31
RPL35A
RPL36
RPL5
RPS10
RPS15
RPS17
RPS19
RPS24
RPS26
RPS27
RPS27A
RPS28
RPS29
RPS7
RTEL1
RUNX1
SAMD9L
SBDS
SH2B3
SH2D1A
SLX4
STAT3
STN1
TERC
TERT
TINF2
TP53
TSR2
UBE2T
WAS
WRAP53
XRCC2
Metabolic diseases
Glycogen storage disease47 genes
Nom et numéro du panel : Glycogen storage disease MDG-2409.01
Gènes inclus dans le panel :
ACADM
ACADS
ACADSB
ACADVL
AGL
ALDOA
CPT1A
CPT2
ENO3
ETFA
ETFB
ETFDH
FBP1
G6PC
GAA
GBE1
GYG1
GYS1
GYS2
HADH
HADHA
HADHB
HMGCL
HMGCS2
LAMP2
LDHA
MLYCD
NADK2
PFKM
PGAM2
PGM1
PHKA1
PHKA2
PHKB
PHKG1
PHKG2
POLG
PYGL
PYGM
RBCK1
SLC22A5
SLC25A20
SLC2A2
SLC37A4
SLC52A1
SLC52A2
SLC52A3
Treatable Neurometabolic Disorders92 genes
Nom et numéro du panel : Treatable Neurometabolic Disorders MDG-2407.00
Gènes inclus dans le panel :
ABCD1
ACAT1
AGA
ALDH5A1
ALDH7A1
AMN
AMT
ARG1
ARSA
ASL
ASS1
ATP7A
ATP7B
AUH
BCKDHA
BCKDHB
BTD
CBS
CP
CPS1
CUBN
CYP27A1
DBT
DHCR7
DLAT
DLD
ETFA
ETFB
ETFDH
ETHE1
GAMT
GATM
GCDH
GCH1
GCSH
GIF
GLA
GLDC
GLUD1
GUSB
HLCS
HMGCL
HMGCS2
HSD17B10
IDS
IDUA
IVD
LIPA
LMBRD1
MAN2B1
MCCC1
MCCC2
MMAA
MMAB
MMACHC
MMADHC
MOCS1
MTHFR
MTR
MTRR
MUT
NAGS
NPC1
NPC2
OTC
OXCT1
PAH
PANK2
PCBD1
PCCA
PCCB
PDHA1
PDHB
PDHX
PDP1
PHGDH
PNPO
PPM1K
PSAT1
PSPH
PTS
QDPR
SGSH
SLC19A3
SLC25A13
SLC25A15
SLC2A1
SLC6A8
SPR
TAT
TH
TPP1
Organic Acidemia56 genes
Nom et numéro du panel : Organic Acidemia MDG-2406.00
Gènes inclus dans le panel :
ACAD8
ACADSB
ACAT1
ACSF3
ASPA
AUH
BCKDHA
BCKDHB
BTD
D2HGDH
DBT
DHTKD1
DLD
DNAJC19
ETFA
ETFB
ETFDH
ETHE1
FBP1
FH
FTCD
GCDH
GSS
HIBCH
HLCS
HMGCL
HSD17B10
IDH2
IVD
L2HGDH
MCCC1
MCCC2
MCEE
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MUT
NFU1
OGDH
OPA3
OPLAH
OXCT1
PCCA
PCCB
POLG
PPM1K
SERAC1
SLC13A5
SLC25A1
SLC25A19
SUCLA2
SUCLG1
TAZ
TMEM70
Undiagnosed Metabolic Disorders732 genes
Nom et numéro du panel : Undiagnosed Metabolic Disorders MDG-2405.00
Gènes inclus dans le panel :
AARS2
AASS
ABAT
ABCA1
ABCB11
ABCB4
ABCB7
ABCD1
ABCD4
ABCG2
ABCG5
ABCG8
ABHD12
ABHD5
ACAD8
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACO2
ACOX1
ACSF3
ACY1
ADA
ADAR
ADSL
AFG3L2
AGA
AGK
AGL
AGPS
AGXT
AHCY
AIFM1
AKR1D1
ALAD
ALAS2
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH6A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG8
ALG9
ALPL
AMACR
AMN
AMPD1
AMT
ANO10
AOX1
APOA1
APOA5
APOB
APOC2
APOE
APOPT1
APRT
APTX
ARG1
ARSA
ARSB
ARSE
ARSG
ASAH1
ASL
ASPA
ASS1
ATIC
ATP13A2
ATP5F1A
ATP5F1E
ATP6AP1
ATP6V0A2
ATP7A
ATP7B
ATP8B1
ATPAF2
ATXN7
AUH
B3GALNT2
B3GALT6
B3GAT3
B3GLCT
B4GALT1
B4GALT7
BAAT
BCAT1
BCAT2
BCKDHA
BCKDHB
BCKDK
BCS1L
BOLA3
BTD
C12orf65
C19orf12
C1GALT1C1
CA5A
CAT
CBS
CCDC115
CD320
CETP
CHCHD10
CHKB
CHST14
CHST3
CHST6
CHSY1
CISD2
CLDN16
CLDN19
CLN3
CLN5
CLN6
CLN8
CLPB
CLPP
CLPS
CNDP1
CNNM2
COA5
COG1
COG4
COG5
COG6
COG7
COG8
COQ2
COQ4
COQ6
COQ8A
COQ8B
COQ9
COX10
COX14
COX15
COX20
COX4I2
COX6A1
COX6B1
COX7B
CP
CPOX
CPS1
CPT1A
CPT2
CSTB
CTH
CTNS
CTSA
CTSC
CTSD
CTSK
CUBN
CYC1
CYP27A1
CYP7A1
CYP7B1
D2HGDH
DARS
DARS2
DBH
DBT
DCXR
DDC
DGUOK
DHCR24
DHCR7
DHDDS
DHFR
DHFR2
DHODH
DHTKD1
DLAT
DLD
DLST
DMGDH
DNA2
DNAJC12
DNAJC19
DNAJC5
DNM1L
DOLK
DPAGT1
DPEP1
DPM1
DPM2
DPM3
DPYD
DPYS
DYM
EARS2
EBP
ECHS1
EGF
ELAC2
ENO3
EPG5
EPM2A
ETFA
ETFB
ETFDH
ETHE1
EXT1
EXT2
FA2H
FAH
FAR1
FARS2
FASTKD2
FBP1
FBXL4
FECH
FGFR2
FH
FKRP
FKTN
FMO3
FOLR1
FOLR2
FOLR3
FOXRED1
FTCD
FUCA1
FXN
FXYD2
G6PC
G6PC3
GAA
GABRG2
GALC
GALE
GALK1
GALNS
GALNT12
GALNT3
GALT
GAMT
GARS
GATM
GBA
GBE1
GCDH
GCH1
GCLC
GCSH
GDAP1
GFER
GFM1
GFPT1
GGT1
GIF
GK
GLA
GLB1
GLDC
GLRA1
GLRX5
GLS
GLUD1
GLUL
GLYCTK
GM2A
GMPPB
GNE
GNMT
GNPAT
GNPTAB
GNPTG
GNS
GPHN
GRHPR
GSS
GTPBP3
GUSB
GYG1
GYS1
GYS2
HAAO
HADH
HADHA
HADHB
HAL
HAMP
HARS2
HCCS
HCFC1
HEXA
HEXB
HFE
HGD
HGSNAT
HIBCH
HJV
HLCS
HMBS
HMGCL
HMGCS2
HOGA1
HPD
HPRT1
HPS1
HSD17B10
HSD17B4
HSD3B7
HSPD1
HTRA2
HYAL1
HYKK
IARS2
IBA57
IDH2
IDS
IDUA
ISCU
ISPD
ITPA
IVD
KARS
KHK
KYNU
L2HGDH
LAMP2
LARGE1
LARS2
LBR
LCAT
LCT
LDHA
LDLR
LDLRAP1
LFNG
LIAS
LIPA
LIPC
LIPI
LIPT1
LMBRD1
LONP1
LPIN1
LPL
LRPPRC
MAGT1
MAN1B1
MAN2B1
MANBA
MAOA
MARS2
MAT1A
MCCC1
MCCC2
MCEE
MCOLN1
MFF
MFN2
MFSD8
MGAT2
MGME1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MOCS1
MOCS2
MOGS
MPDU1
MPI
MPV17
MRPL3
MRPS16
MRPS22
MSMO1
MT-ATP6
MT-ATP8
MT-CO1
MT-CO2
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND4L
MT-ND5
MT-ND6
MT-RNR1
MT-TA
MT-TC
MT-TD
MT-TE
MT-TF
MT-TG
MT-TH
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TM
MT-TN
MT-TP
MT-TQ
MT-TR
MT-TS1
MT-TS2
MT-TV
MT-TW
MT-TY
MTFMT
MTHFD1
MTHFR
MTO1
MTPAP
MTR
MTRR
MTTP
MUT
MVK
NAGA
NAGLU
NAGS
NARS2
NAT8L
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NEU1
NFU1
NGLY1
NHLRC1
NPC1
NPC2
NSDHL
NT5C
NT5C3A
NUBPL
NUP62
OAT
OCRL
OGDH
OPA1
OPA3
OPLAH
OTC
OXCT1
PAH
PANK2
PC
PCBD1
PCCA
PCCB
PCK1
PCSK9
PDHA1
PDHB
PDHX
PDK1
PDK2
PDK3
PDK4
PDP1
PDP2
PDPR
PDSS1
PDSS2
PDXK
PEPD
PET100
PEX1
PEX10
PEX11A
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PGAM2
PGAP2
PGAP3
PGK1
PGM1
PGM3
PHGDH
PHKA1
PHKA2
PHKB
PHKG1
PHKG2
PHYH
PHYKPL
PIGA
PIGL
PIGM
PIGN
PIGO
PIGT
PIGV
PINK1
PLA2G6
PMM2
PMPCA
PNLIP
PNP
PNPO
PNPT1
POLG
POLG2
POMGNT1
POMGNT2
POMT1
POMT2
POR
PPA2
PPM1B
PPM1K
PPOX
PPT1
PREPL
PRKAG2
PRODH
PRPS1
PSAP
PSAT1
PSPH
PTPRZ1
PTS
PUS1
PYCR1
PYGL
PYGM
QDPR
RANBP2
RARS2
RBCK1
RBP4
RFT1
RMND1
RNASEH1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RPIA
RPL10
RRM2B
RXYLT1
RYR1
SACS
SAMHD1
SAR1B
SARDH
SARS2
SC5D
SCARB1
SCO1
SCO2
SCP2
SDHA
SDHAF1
SDHAF2
SDHB
SDHC
SDHD
SEC23B
SERAC1
SETX
SGSH
SHPK
SI
SKIV2L
SLC12A3
SLC16A1
SLC17A5
SLC18A2
SLC19A2
SLC19A3
SLC22A4
SLC22A5
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A19
SLC25A2
SLC25A20
SLC25A22
SLC25A26
SLC25A3
SLC25A38
SLC25A4
SLC25A46
SLC27A5
SLC2A1
SLC2A2
SLC30A10
SLC35A1
SLC35A2
SLC35C1
SLC35D1
SLC36A2
SLC37A4
SLC39A14
SLC39A4
SLC39A8
SLC3A1
SLC40A1
SLC46A1
SLC52A1
SLC52A2
SLC52A3
SLC5A1
SLC6A19
SLC6A20
SLC6A3
SLC6A8
SLC7A7
SLC7A9
SLCO1B1
SLCO1B3
SMPD1
SPG7
SPR
SPTLC1
SPTLC2
SRD5A3
SSR4
ST3GAL3
ST3GAL5
STS
SUCLA2
SUCLG1
SUCLG2
SUGCT
SUMF1
SUOX
SURF1
TACO1
TALDO1
TAT
TAZ
TCN1
TCN2
TDO2
TFR2
TH
TIMM8A
TK2
TM6SF2
TMEM126A
TMEM165
TMEM70
TPK1
TPMT
TPP1
TREH
TREX1
TRIM37
TRMU
TRNT1
TRPM6
TSFM
TTC19
TTC37
TTPA
TUFM
TUSC3
TWNK
TYMP
UGT1A1
UMOD
UMPS
UPB1
UQCRB
UQCRQ
UROC1
UROD
UROS
USF1
VARS2
VIPAS39
VKORC1
VPS33B
WDR45
WFS1
XDH
XYLT1
XYLT2
YARS2
Ketotic Hypoglycaemia26 genes
Nom et numéro du panel : Ketotic Hypoglycaemia MDG-2404.00
Gènes inclus dans le panel :
ACAT1
AGL
ALDOA
ALDOB
BTD
FBP1
G6PC
GBE1
GYS2
HLCS
IVD
LDHA
MCEE
MUT
OXCT1
PC
PCCA
PCCB
PGM1
PHKA2
PHKB
PHKG2
PYGL
SLC16A1
SLC2A2
SLC37A4
Hyperammonemia52 genes
Nom et numéro du panel : Hyperammonemia MDG-2408.00
Gènes inclus dans le panel :
ACADM
ACADS
ACADVL
ALDH18A1
ARG1
ASL
ASS1
AUH
BCKDHA
BCKDHB
CA5A
CPS1
CPT1A
CPT2
DBT
DLD
ETFA
ETFB
ETFDH
GLUD1
HADHA
HADHB
HCFC1
HLCS
HMGCL
HMGCS2
IVD
MCCC1
MCCC2
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MUT
NAGS
OAT
OTC
PC
PCCA
PCCB
POLG
PYGM
SERAC1
SLC22A5
SLC25A13
SLC25A15
SLC25A20
SLC7A7
SUCLA2
SUCLG1
TMEM70
Glycosylation Disorders108 genes
Nom et numéro du panel : Glycosylation Disorders MDG-2403.00
Gènes inclus dans le panel :
ALG1
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG8
ALG9
ATP6AP1
ATP6V0A2
B3GALNT2
B3GALT6
B3GAT3
B3GLCT
B4GALNT1
B4GALT1
B4GALT7
B4GAT1
C1GALT1C1
CCDC115
CHST14
CHST3
CHST6
CHSY1
COG1
COG2
COG4
COG5
COG6
COG7
COG8
DDOST
DHDDS
DOLK
DPAGT1
DPM1
DPM2
DPM3
DSE
EOGT
EXT1
EXT2
FKRP
FKTN
G6PC3
GALNT3
GFPT1
GMPPA
GMPPB
GNE
ISPD
LARGE1
LFNG
MAGT1
MAN1B1
MGAT2
MOGS
MPDU1
MPI
NGLY1
NUS1
PAPSS2
PGAP2
PGAP3
PGM1
PGM3
PIGA
PIGL
PIGM
PIGN
PIGO
PIGQ
PIGT
PIGV
PIGW
PMM2
POFUT1
POGLUT1
POMGNT1
POMGNT2
POMK
POMT1
POMT2
RFT1
RPN2
RXYLT1
SEC23A
SEC23B
SLC26A2
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC35D1
SLC39A8
SRD5A3
SSR4
ST3GAL3
ST3GAL5
STT3A
STT3B
TMEM165
TRIP11
TUSC3
XYLT1
XYLT2
Lysosomal Storage Disorders54 genes
Nom et numéro du panel : Lysosomal Storage Disorders MDG-2402.00
Gènes inclus dans le panel :
AGA
ARSA
ARSB
ASAH1
ATP13A2
CHIT1
CLN3
CLN5
CLN6
CLN8
CTNS
CTSA
CTSD
CTSF
CTSK
DNAJC5
FUCA1
GAA
GALC
GALNS
GBA
GLA
GLB1
GM2A
GNPTAB
GNPTG
GNS
GRN
GUSB
HEXA
HEXB
HGSNAT
HYAL1
IDS
IDUA
KCTD7
LAMP2
LIPA
MAN2B1
MANBA
MCOLN1
MFSD8
NAGA
NAGLU
NEU1
NPC1
NPC2
PPT1
PSAP
SGSH
SLC17A5
SMPD1
SUMF1
TPP1
Peroxisomal Disorders37 genes
Nom et numéro du panel : Peroxisomal Disorders MDG-2401.00
Gènes inclus dans le panel :
ABCD1
ABCD3
ACOX1
AGK
AGPS
AGXT
AMACR
ARSE
CAT
CBS
DNM1L
DYM
EBP
FAR1
GNPAT
GRHPR
HOGA1
HSD17B4
IDH1
NSDHL
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PHYH
SCP2
TRIM37
Nephrology
Kidney Diseases374 genes
Nom et numéro du panel : Kidney Diseases MDG-1601.02
Gènes inclus dans le panel :
ACE
ACSL4
ACTN4
ADAMTS13
ADAMTS9
ADCY10
AGT
AGTR1
AGTR2
AGXT
AHI1
ALDH1A2
ALDOB
ALG1
ALMS1
ALPL
ANKS6
ANLN
ANOS1
AP2S1
APBB2
APOA1
APOA2
APOE
APOL1
APP
APRT
AQP2
ARHGAP24
ARHGDIA
ARL13B
ARL6
ARMC9
ARSA
ASPH
ATP6V0A4
ATP6V1B1
ATP6V1B2
ATP7B
ATRX
ATXN10
AVP
AVPR2
B2M
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCS1L
BICC1
BMP4
BMP7
BNC2
BSND
C1QA
C1QB
C1QC
C2CD3
C3
C8orf37
CA2
CASR
CC2D2A
CCDC28B
CCDC39
CCNQ
CD151
CD2AP
CD46
CDC5L
CDKN1C
CELSR2
CEP104
CEP120
CEP164
CEP290
CEP41
CEP55
CEP83
CFB
CFH
CFHR1
CFHR2
CFHR3
CFHR4
CFHR5
CFI
CHD1L
CHD7
CHRM3
CLCN5
CLCNKA
CLCNKB
CLDN16
CLDN19
CLU
CNNM2
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
COQ2
COQ6
COQ8B
CPLANE1
CPT2
CRB2
CSPP1
CST3
CTNS
CUBN
CUL3
CYP24A1
CYP27B1
CYP2R1
DACH1
DCDC2
DGKE
DLG1
DMP1
DSTYK
EDA2R
EGF
EMP2
ENPP1
ETFA
EVC
EVC2
EXOC8
EYA1
FAH
FAN1
FAT1
FBXW7
FGA
FGF20
FGF23
FGF8
FGFR1
FGFR2
FIBP
FMN1
FN1
FOXC1
FRAS1
FREM1
FREM2
FXYD2
G6PC
GALNT3
GALT
GANAB
GATA3
GCM2
GDF11
GDNF
GFRA1
GLA
GLI3
GLIS2
GNA11
GNAS
GPC3
GRASP
GREM1
GRHPR
GRIP1
GSN
HNF1B
HOGA1
HPRT1
HPSE2
HSD11B2
HYLS1
IFT122
IFT172
IFT27
IFT74
IHH
IL31RA
INF2
INPP5E
INSR
INVS
IQCB1
ITGA3
ITGA8
ITGB4
ITM2B
JAG1
KANK1
KANK2
KANK4
KCNJ1
KCNJ10
KCNU1
KIAA0556
KIAA0586
KIAA0753
KIF12
KIF14
KIF7
KL
KLHL3
LAMA5
LAMB2
LCAT
LMNA
LMX1B
LRP4
LRP5
LYZ
LZTFL1
MAGED2
MAGI2
MAPKBP1
MEFV
MKKS
MKS1
MMACHC
MMADHC
MMUT
MUC1
MYH9
MYO1E
MYOG
NEIL1
NEK8
NOTCH2
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NR3C2
NUP107
NUP205
NUP93
NXF5
OCRL
OFD1
OSR1
PAX2
PAX8
PCDH9
PDE4D
PDE6D
PDPR
PDSS1
PDSS2
PHEX
PIBF1
PIGA
PKD1
PKD2
PKHD1
PLCE1
PLG
PMM2
PODXL
PRKAR1A
PSAP
PTH
PTH1R
PTHLH
PTPRO
PXDN
PYGM
REN
RET
ROBO2
RPGRIP1L
SALL1
SALL2
SCARB2
SCNN1A
SCNN1B
SCNN1G
SDCCAG8
SEC61A1
SEMA3A
SGPL1
SIX1
SIX2
SIX5
SLC12A1
SLC12A3
SLC12A7
SLC17A5
SLC1A1
SLC22A12
SLC26A1
SLC2A2
SLC2A9
SLC34A1
SLC34A3
SLC36A2
SLC37A4
SLC3A1
SLC41A1
SLC4A1
SLC4A4
SLC6A19
SLC6A20
SLC7A7
SLC7A9
SLC9A3R1
SLC9A3R2
SLIT2
SMARCAL1
SOX17
SOX9
SPRY1
SRGAP1
SYNPO
TBC1D1
TBC1D8B
TBX18
TCTN1
TCTN2
TCTN3
TFAP2A
THBD
TMEM107
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TNS3
TRAF3IP1
TRAF7
TRAP1
TRAPPC3
TRIM32
TRPC6
TRPM6
TSC1
TSC2
TTC21B
TTC8
TTR
TXNDC15
UMOD
UPF3B
UPK3A
USF2
VDR
VHL
VIPAS39
VPS33B
WDPCP
WDR19
WDR35
WDR73
WFS1
WNK1
WNK4
WNT4
WNT5A
WT1
XDH
XPNPEP3
XPO5
ZEB1
ZNF423
Proteinuria64 genes
Nom et numéro du panel : Proteinuria MDG-1604.01
Gènes inclus dans le panel :
ACE
ACTN4
ALG1
ALMS1
AMN
ANLN
APOE
APOL1
ARHGAP24
ARHGDIA
CBLIF
CD151
CD2AP
CLCN5
COL4A3
COL4A4
COL4A5
COQ2
COQ6
COQ8B
COQ9
CRB2
CUBN
CYP11B2
DGKE
DHFR
E2F3
EMP2
FAT1
INF2
ITGA3
ITGB4
KANK1
KANK2
KANK4
LAMB2
LCAT
LMX1B
MAGI2
MTR
MTRR
MYH9
MYO1E
NPHS1
NPHS2
NUP107
NUP205
NUP93
PDSS2
PLCE1
PMM2
PTPRO
SCARB2
SGPL1
SLC19A2
SLC19A3
SMARCAL1
TBC1D8B
TRPC6
TTC21B
WDR73
WT1
XPO5
ZMPSTE24
Kidney and Urinary Tract Anomalies - CAKUT106 genes
Nom et numéro du panel : Kidney and Urinary Tract Anomalies - CAKUT MDG-1606.02
Gènes inclus dans le panel :
ACE
ACTA2
ACTG1
ACTG2
AGT
AGTR1
ALDH1A2
AMER1
ANOS1
BICC1
BMP4
BMP7
BNC2
BSND
CDC5L
CHD1L
CHD7
CHRM3
COX10
CTU2
DACH1
DACT1
DLG3
DSTYK
EP300
ETV4
EYA1
FAT4
FGF20
FGFR1
FGFR3
FIBP
FLNA
FOXC1
FOXC2
FRAS1
FREM1
FREM2
GATA3
GDNF
GLI3
GREB1L
GREM1
GRIP1
HAAO
HCN3
HNF1B
HOXA13
HPSE2
ITGA8
KAT6B
KIF14
KIT
KMT2D
KYNU
LRIG2
MUC1
MYH11
NEK8
NOTCH2
NPHP1
NPHP3
NPHP4
NRIP1
NSDHL
OCRL
OFD1
OSR1
PAX2
PBX1
REN
RET
ROBO2
RPGRIP1L
RRM2B
SALL1
SDCCAG8
SHH
SIX1
SIX2
SIX5
SLIT2
SMARCA4
SOX17
SPRY1
SRGAP1
TBC1D1
TBX18
TFAP2A
TMEM231
TNS3
TNXB
TP63
TRAP1
TRPS1
TSHZ3
UMOD
UPF3B
UPK2
UPK3A
VIPAS39
VPS33B
WNT4
WNT5A
WT1
ZIC3
Cystic Kidney Disease69 genes
Nom et numéro du panel : Cystic Kidney Disease MDG-1602.01
Gènes inclus dans le panel :
ADAMTS9
AHI1
ANKS6
ARL13B
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS9
BICC1
CC2D2A
CCDC28B
CEP164
CEP290
CEP41
COL4A1
CPLANE1
CRB2
DZIP1L
ETFA
GANAB
GLA
GLIS2
HNF1B
INPP5E
INVS
IQCB1
KIF7
LRP5
MKS1
MUC1
NEK8
NPHP1
NPHP3
NPHP4
OFD1
PAX2
PKD1
PKD2
PKHD1
PMM2
PRKCSH
REN
RPGRIP1L
SALL1
SDCCAG8
SEC61A1
SEC63
TCTN1
TCTN3
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TRIM32
TSC1
TSC2
TTC21B
TTC8
UMOD
VHL
WDPCP
WDR19
XPNPEP3
ZNF423
Renal tubular acidosis9 genes
Nom et numéro du panel : Renal tubular acidosis MDG-1608.00
Gènes inclus dans le panel :
ATP6V0A4
ATP6V1B1
BCS1L
CA2
OCRL
SLC4A1
SLC4A4
VIPAS39
VPS33B
Kidney Failure in Young People166 genes
Nom et numéro du panel : Kidney Failure in Young People MDG-1607.00
Gènes inclus dans le panel :
ACE
ACTA2
ACTG2
ACTN4
AGT
AGTR1
AHI1
ALG1
ALMS1
AMN
ANKS6
ANOS1
APOL1
ARHGAP24
ARHGDIA
ARL13B
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS9
BICC1
BMP4
BSND
C3
CC2D2A
CCDC28B
CD151
CD2AP
CD46
CEP164
CEP290
CEP41
CFB
CFH
CFHR5
CFI
CHD7
CHRM3
CLCN5
COL4A3
COL4A4
COL4A5
COL4A6
COQ2
COQ6
COQ8B
COX10
CPLANE1
CTNS
CUBN
CYP11B2
DACT1
DGKE
DHFR
DLG3
DSTYK
E2F3
EYA1
FOXC1
FOXC2
FRAS1
FREM1
FREM2
GATA3
GDNF
GIF
GLA
GLI3
GLIS2
GREM1
GRIP1
HCN3
HNF1B
HPSE2
INF2
INPP5E
INVS
IQCB1
ITGA3
ITGA8
ITGB4
KANK2
KIF7
KIT
LAMB2
LMX1B
LRIG2
MKS1
MTR
MTRR
MUC1
MYH11
MYH9
MYO1E
NEK8
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NUP107
NUP93
OCRL
OFD1
PAX2
PDSS2
PKD1
PKD2
PKHD1
PLCE1
PMM2
PRKCSH
PTPRO
REN
RET
ROBO2
RPGRIP1L
RRM2B
SALL1
SCARB2
SDCCAG8
SEC63
SGPL1
SHH
SIX1
SIX5
SLC19A2
SLC19A3
SLIT2
SMARCA4
SMARCAL1
SOX17
SPRY1
TBX18
TCTN1
TCTN3
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TNXB
TRAP1
TRIM32
TRPC6
TSC1
TSC2
TSHZ3
TTC21B
TTC8
UMOD
UPK2
UPK3A
VHL
VIPAS39
VPS33B
WDPCP
WDR19
WT1
XPNPEP3
ZMPSTE24
ZNF423
Familial Hematuria9 genes
Nom et numéro du panel : Familial Hematuria MDG-1605.00
Gènes inclus dans le panel :
CFHR5
COL4A1
COL4A2
COL4A3
COL4A4
COL4A5
COL4A6
MYH9
NPHS2
Nephrolithiasis/Nephrocalcinosis41 genes
Nom et numéro du panel : Nephrolithiasis/Nephrocalcinosis MDG-1603.00
Gènes inclus dans le panel :
ADCY10
AGK
AGXT
AP2S1
APRT
ATP6V0A4
ATP6V1B1
BSND
CA2
CASR
CLCN5
CLCNKA
CLCNKB
CLDN16
CLDN19
CYP24A1
FAM20A
GNA11
GRHPR
HNF4A
HOGA1
HPRT1
KCNJ1
OCRL
SLC12A1
SLC22A12
SLC2A9
SLC34A1
SLC34A3
SLC36A2
SLC3A1
SLC4A1
SLC6A19
SLC6A20
SLC7A9
SLC9A3
SLC9A3R1
TRPM6
VDR
XDH
ZNF365
Neurology
Cerebellar hypoplasia98 genes
Nom et numéro du panel : Cerebellar hypoplasia MDG-1230.00
Gènes inclus dans le panel :
ADGRG1
AKT3
AMPD2
ASPM
ATAD3A
ATP8A2
ATR
B3GALNT2
B4GAT1
CA8
CACNA1G
CASK
CDK5RAP2
CENPF
CENPJ
CEP152
CEP63
CHMP1A
CLP1
COASY
CREBBP
CRPPA
CWF19L1
DAG1
DCC
DKC1
DYNC1H1
DYRK1A
EFTUD2
EXOSC3
EXOSC9
FKRP
FKTN
GFM1
GMPPB
ITPR1
KANSL1
KATNB1
KCNC3
KIF11
LARGE1
LIG4
MACF1
MBD5
MCPH1
MFSD2A
MRE11
MYCN
NDE1
NHEJ1
OPHN1
PAFAH1B1
PCNT
PHGDH
PLK4
PNKP
POMGNT1
POMGNT2
POMT1
POMT2
PQBP1
PTF1A
RARS2
RELN
ROBO3
RTTN
RXYLT1
SEPSECS
SMPD4
SNX14
SPTAN1
SPTBN2
STAMBP
STIL
TERT
TINF2
TOE1
TSEN15
TSEN2
TSEN34
TSEN54
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBG1
TUBGCP4
TUBGCP6
VLDLR
VPS53
VRK1
WDR37
WDR62
WDR73
WDR81
XRCC4
Leukoencephalopathy and leukodystrophy80 genes
Nom et numéro du panel : Leukoencephalopathy and leukodystrophy MDG-1227.00
Gènes inclus dans le panel :
AARS2
ABCD1
ADAR
AIFM1
AIMP1
ALDH3A2
AP4B1
AP4E1
AP4M1
AP4S1
ARSA
ASPA
CLCN2
COA8
COL4A1
COX15
COX6B1
CSF1R
CTC1
CYP27A1
D2HGDH
DARS
DARS2
EARS2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
FA2H
FAM126A
FOLR1
FOXRED1
GALC
GFAP
GFM1
GJC2
HEPACAM
HIBCH
HSPD1
HTRA1
IBA57
L2HGDH
LMNB1
LYRM7
MARS2
MLC1
MRPL44
MTFMT
NAXE
NDUFAF5
NFU1
NOTCH3
NUBPL
PLP1
POLR3A
POLR3B
PSAP
PYCR2
RARS
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF216
SAMHD1
SCO1
SCP2
SDHAF1
SERAC1
SNORD118
SOX10
SUMF1
TREM2
TREX1
TTC19
TUBB4A
TYROBP
WARS2
ZFYVE26
Neurodegeneration with iron overload14 genes
Nom et numéro du panel : Neurodegeneration with iron overload MDG-1228.00
Gènes inclus dans le panel :
ATP13A2
C19orf12
COASY
CP
DCAF17
FA2H
FTL
FUCA1
KIF1A
PANK2
PLA2G6
SQSTM1
TRIM32
WDR45
Movement disorders137 genes
Nom et numéro du panel : Movement disorders MDG-1205.00
Gènes inclus dans le panel :
ACTB
ADAR
ADCY5
ANO3
AP1S2
APTX
ARSA
ATM
ATP13A2
ATP1A2
ATP1A3
ATP6AP2
ATP7B
AUH
BCAP31
C19orf12
CACNA1A
CHCHD2
CHMP2B
CIZ1
COASY
CP
CSF1R
CSTB
CYP27A1
DCAF17
DCTN1
DDC
DLAT
DNAJC6
DRD2
DRD5
EARS2
EIF4G1
ERCC6
FA2H
FASTKD2
FBXO7
FOXRED1
FTL
FUS
GAMT
GBA
GCDH
GCH1
GIGYF2
GLB1
GNAL
GNAO1
GRN
HPCA
HPRT1
HSPD1
HTRA2
IPPK
KCNQ2
KCTD17
KMT2B
L2HGDH
LRRK2
LYST
MAPT
MAT1A
MCOLN1
MECR
MMADHC
MPV17
MR1
MT-ND6
NDUFA12
NKX6-2
NPC1
NPC2
OPA3
PANK2
PARK7
PCDH12
PDGFB
PDGFRB
PDHX
PINK1
PLA2G6
PLP1
PNKD
PNPT1
POLG
PRKN
PRKRA
PRRT2
PTS
QDPR
RAB39B
RNASEH2A
RNASEH2B
RNASEH2C
RTN2
SAMHD1
SCP2
SDHAF1
SERAC1
SGCE
SLC19A3
SLC20A2
SLC2A1
SLC30A10
SLC39A14
SLC41A1
SLC46A1
SLC6A3
SNCA
SNCAIP
SNCB
SPG11
SPR
SUCLA2
SUOX
SYNJ1
TAF1
TARDBP
TH
THAP1
TIMM8A
TOR1A
TOR1AIP1
TPK1
TREM2
TREX1
TUBB4A
UCHL1
VAC14
VCP
VPS13A
VPS35
WDR45
WDR73
YY1
ZFYVE26
Ataxia, dystonia and chorea216 genes
Nom et numéro du panel : Ataxia, dystonia and chorea MDG-1221.01
Gènes inclus dans le panel :
ABCB7
ABHD12
ADCY5
ADGRG1
AFG3L2
AHI1
ALAS2
ALG6
AMACR
AMPD2
ANO10
ANO3
AP1S2
APTX
AR
ARL13B
ARSA
ATCAY
ATM
ATN1
ATP1A3
ATP2B3
ATP7A
ATP7B
ATP8A2
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
AUH
BCAP31
BEAN1
BTD
CA8
CACNA1A
CACNA1B
CACNB4
CAMTA1
CASK
CBS
CC2D2A
CCDC88C
CD320
CEP290
CHMP1A
CIZ1
CLCN2
CLN3
CLN5
CLP1
COL6A3
COQ8A
COX20
CP
CRAT
CSF1R
CSTB
CYP27A1
DARS2
DDB2
DKC1
DLAT
DNAJC19
DNAJC5
DNMT1
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ELOVL5
EPM2A
ERCC2
ERCC3
ERCC4
ERCC5
EXOSC3
FGF14
FLVCR1
FOXC1
FTL
FXN
GALC
GBA
GBA2
GBE1
GCDH
GCH1
GCLC
GJB1
GLB1
GNAL
GOSR2
GPSM2
GRID2
GRM1
HCFC1
HEPACAM
HEXA
HEXB
HPRT1
HTT
IFRD1
INPP5E
ITPR1
JPH3
KCNA1
KCNC3
KCND3
KCNJ10
KCNMA1
KCTD17
KIF1C
KIF5C
L2HGDH
LAMA1
MECP2
MLC1
MRE11
MTPAP
MTTP
NEU1
NHLRC1
NKX2-1
NOP56
NPC1
NPC2
NPHP1
OPA1
OPA3
OPHN1
PANK2
PAX6
PCCA
PCCB
PDHX
PDSS1
PDSS2
PDYN
PEX10
PEX2
PEX7
PHYH
PIGS
PIK3R5
PLA2G6
PMM2
PNKD
PNPLA6
POLG
POLH
PPP2R2B
PRICKLE1
PRKCG
PRKN
PRKRA
PRNP
PRRT2
PSAP
RARS2
RELN
ROBO3
RPGRIP1L
RUBCN
SACS
SEPSECS
SETX
SGCE
SIL1
SKOR2
SLC17A5
SLC1A3
SLC20A2
SLC25A15
SLC2A1
SLC30A10
SLC5A2
SLC6A3
SMPD1
SPG7
SPR
SPTBN2
STUB1
SYNE1
SYT14
TAF1
TBP
TDP1
TGM6
TH
THAP1
TIMM8A
TMEM216
TMEM67
TOR1A
TSEN2
TSEN34
TSEN54
TTBK2
TTPA
TUBB4A
TWNK
VAMP1
VLDLR
VPS13A
VRK1
WASHC5
WDR81
WFS1
WWOX
XPA
XPC
ZNF592
Neurodegenerative diseases354 genes
Nom et numéro du panel : Neurodegenerative diseases MDG-1201.00
Gènes inclus dans le panel :
AARS
AARS2
ABCB7
ABCD1
ABHD12
ACOX1
ADAR
ADCY5
AFG3L2
AIMP1
ALDH18A1
ALDH3A2
ALS2
ANG
ANO10
ANO3
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
APOE
APP
APTX
ARSA
ASPA
ATCAY
ATL1
ATM
ATP13A2
ATP1A3
ATP2B3
ATP7B
ATP8A2
AUH
B4GALNT1
BCAP31
BOLA3
BSCL2
C12orf65
C19orf12
CA2
CA8
CACNA1A
CACNA1B
CACNA1G
CACNB4
CAMTA1
CAPN1
CCDC88C
CHCHD10
CHCHD2
CHMP2B
CIZ1
CLCN2
CLN3
CLN5
CLN6
CLN8
COA8
COASY
COL4A1
COL4A2
COL6A3
COQ8A
COX20
CP
CSF1R
CTC1
CTSA
CTSD
CTSF
CWF19L1
CYP27A1
CYP2U1
CYP7B1
DARS
DARS2
DCAF17
DCTN1
DDC
DDHD1
DDHD2
DNAJC12
DNAJC5
DNAJC6
DNMT1
DSTYK
EARS2
EEF2
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ELOVL5
ERCC6
ERCC8
ERLIN2
FA2H
FAM126A
FBXO7
FGF14
FIG4
FKRP
FKTN
FLVCR1
FOLR1
FOXC1
FRRS1L
FTL
FUCA1
FUS
FXN
GALC
GAN
GBA
GBA2
GBE1
GCDH
GCH1
GFAP
GJC2
GLA
GLB1
GLRX5
GMPPB
GNAL
GNAO1
GOSR2
GRID2
GRM1
GRN
GTPBP2
HEPACAM
HEXA
HEXB
HIKESHI
HNRNPA1
HNRNPA2B1
HPCA
HPRT1
HSD17B4
HSPD1
HTRA1
HTT
IBA57
IDS
IFIH1
ISCA2
ITM2B
ITPR1
KCNA1
KCNC3
KCND3
KCNJ10
KCNMA1
KCNT1
KCTD7
KIDINS220
KIF1A
KIF1C
KIF5A
KMT2B
L1CAM
L2HGDH
LAMA2
LARGE1
LMNB1
LRRK2
LYRM7
MAG
MAPT
MARS2
MATR3
MCOLN1
MECP2
MECR
MFSD8
MLC1
MRE11
MTFMT
MTTP
NALCN
NAXE
NDUFS1
NDUFV1
NEU1
NFU1
NIPA1
NKX2-1
NKX6-2
NOTCH3
NPC1
NPC2
NT5C2
NUP62
OCLN
OPA3
OPTN
PANK2
PARK7
PAX6
PC
PDE10A
PDGFB
PDGFRB
PDYN
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFN1
PHGDH
PHYH
PINK1
PLA2G6
PLAA
PLEKHG2
PLP1
PMPCA
PNKD
PNKP
PNPLA6
POLG
POLR1C
POLR3A
POLR3B
POMGNT1
POMT1
POMT2
PPT1
PRICKLE1
PRKCG
PRKN
PRKRA
PRNP
PRRT2
PSAP
PSAT1
PSEN1
PSEN2
PYCR2
RAB39B
RARS
REEP1
REEP2
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF170
RNF216
RTN2
RUBCN
SACS
SAMD9L
SAMHD1
SCN8A
SCP2
SCYL1
SDHA
SDHAF1
SETX
SGCE
SIGMAR1
SIL1
SLC16A2
SLC17A5
SLC19A3
SLC1A3
SLC1A4
SLC20A2
SLC25A12
SLC25A15
SLC2A1
SLC30A10
SLC39A14
SLC6A3
SMPD1
SNCA
SNORD118
SNX14
SOD1
SOX10
SPART
SPAST
SPG11
SPG21
SPG7
SPR
SPTAN1
SPTBN2
SQSTM1
STN1
STUB1
SUMF1
SURF1
SYNE1
SYNJ1
SYT14
TAF1
TARDBP
TBK1
TDP1
TECPR2
TFG
TGM6
TH
THAP1
TMEM240
TOR1A
TPP1
TREM2
TREX1
TTBK2
TTC19
TTPA
TUBA4A
TUBB4A
TUFM
TWNK
TYMP
TYROBP
UBQLN2
VAC14
VAMP1
VAPB
VCP
VLDLR
VPS11
VPS13A
VPS13C
VPS35
VRK1
WASHC5
WDR45
WDR81
WFS1
WWOX
XK
XPR1
ZFYVE26
Neurological diseases1597 genes
Nom et numéro du panel : Neurological diseases MDG-1222.01
Gènes inclus dans le panel :
AAAS
AARS
AARS2
ABAT
ABCA1
ABCB7
ABCC9
ABCD1
ABCD3
ABCD4
ABHD12
ABHD5
ACAD8
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACD
ACO2
ACOX1
ACP5
ACSF3
ACSL4
ACTA1
ACTA2
ACTB
ACTG1
ACTG2
ACTL6B
ACVR1
ACY1
ADAMTS10
ADAMTS13
ADAMTS18
ADAMTS9
ADAR
ADCY5
ADCY6
ADGRG1
ADGRG6
ADGRV1
ADK
ADNP
ADPRHL2
ADSL
AFF2
AFF4
AFG3L2
AGA
AGK
AGL
AGO1
AGPAT2
AGPS
AGRN
AGTR2
AHCY
AHDC1
AHI1
AIFM1
AIMP1
AK1
AKT1
AKT3
ALAD
ALAS2
ALDH18A1
ALDH1A3
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG8
ALG9
ALPL
ALS2
ALX1
ALX3
ALX4
AMACR
AMER1
AMPD2
AMT
ANKH
ANKRD11
ANO10
ANO3
ANOS1
AP1S2
AP3B1
AP4B1
AP4E1
AP4M1
AP4S1
APOB
APOC2
APTX
AR
ARFGEF2
ARG1
ARHGAP31
ARHGEF6
ARHGEF9
ARID1A
ARID1B
ARL13B
ARL3
ARL6
ARL6IP1
ARNT2
ARSA
ARSE
ARX
ASAH1
ASCL1
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ASXL3
ATCAY
ATIC
ATL1
ATL3
ATM
ATN1
ATP13A2
ATP1A1
ATP1A2
ATP1A3
ATP2A2
ATP2B3
ATP5F1A
ATP5F1E
ATP6AP2
ATP6V0A2
ATP6V1B2
ATP7A
ATP7B
ATP8A2
ATPAF2
ATR
ATRIP
ATRX
ATXN1
ATXN10
ATXN2
ATXN3
ATXN7
ATXN8
ATXN8OS
AUH
AUTS2
B2M
B3GALNT2
B3GLCT
B4GALT1
B4GALT7
B4GAT1
B9D1
B9D2
BAG3
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCKDHA
BCKDHB
BCKDK
BCL11A
BCOR
BCS1L
BDNF
BEAN1
BHLHE41
BLM
BMP4
BOLA3
BRAF
BRAT1
BRCA2
BRF1
BRIP1
BRSK2
BRWD3
BSCL2
BTD
BUB1B
C12orf57
C12orf65
C19orf12
C2CD3
C5
CA2
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1D
CACNA1E
CACNA2D2
CACNB4
CACNG2
CACNG7
CAD
CALM1
CALM2
CAMTA1
CANT1
CARNMT1
CARS
CASK
CASR
CAV1
CBL
CBS
CC2D1A
CC2D2A
CCBE1
CCDC47
CCDC88C
CCM2
CCND2
CCT5
CD320
CD96
CDC6
CDH15
CDK13
CDK5
CDK5RAP2
CDK6
CDK8
CDKL5
CDKN1C
CDON
CDT1
CENPE
CENPF
CENPJ
CEP120
CEP135
CEP152
CEP164
CEP290
CEP41
CEP57
CEP63
CEP83
CERS1
CERT1
CHAMP1
CHAT
CHCHD10
CHD2
CHD4
CHD7
CHD8
CHKB
CHMP1A
CHN1
CHRNA1
CHRNA2
CHRNA4
CHRNB1
CHRNB2
CHRND
CHRNE
CHSY1
CHUK
CIZ1
CKAP2L
CLCF1
CLCN2
CLCNKB
CLIC2
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLPP
CNBP
CNKSR1
CNNM2
CNOT1
CNOT3
CNTN2
CNTNAP1
CNTNAP2
COA3
COA5
COA6
COA8
COASY
COG1
COG4
COG5
COG6
COG7
COG8
COL18A1
COL4A1
COL4A2
COL6A2
COLEC11
COLQ
COQ2
COQ4
COQ6
COQ8A
COQ9
COX10
COX14
COX15
COX20
COX4I2
COX6A1
COX6B1
COX7B
CP
CPA6
CPLANE1
CPOX
CPS1
CPT1A
CPT2
CRADD
CRB2
CRBN
CREBBP
CRIPT
CRLF1
CRPPA
CSF1R
CSNK1D
CSNK2A1
CSPP1
CSTB
CTC1
CTCF
CTDP1
CTNNB1
CTR9
CTSA
CTSD
CTSF
CUL4B
CWF19L1
CYB5R3
CYP27A1
CYP2U1
CYP7B1
D2HGDH
DAG1
DARS2
DBH
DBT
DCAF17
DCC
DCPS
DCX
DDB2
DDC
DDHD2
DDOST
DDX11
DDX3X
DDX59
DEAF1
DECR1
DEPDC5
DES
DGCR2
DGUOK
DHCR24
DHCR7
DHFR
DHH
DHTKD1
DIAPH1
DIP2B
DIS3L2
DKC1
DLAT
DLD
DLG3
DLL1
DMD
DMPK
DMXL2
DNA2
DNAH9
DNAJC19
DNAJC3
DNAJC5
DNAJC6
DNAL4
DNM1
DNM1L
DNM2
DNMBP
DNMT1
DNMT3A
DNMT3B
DOCK6
DOCK7
DOCK8
DOK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DPP6
DPYD
DPYS
DSC3
DSE
DSG1
DST
DSTYK
DUSP6
DYM
DYNC1H1
DYNC1I2
DYNC2H1
DYRK1A
EARS2
EBP
ECE1
ECHS1
ECM1
EDC3
EDN3
EEF1A2
EFHC1
EFNB1
EFTUD2
EGR2
EHMT1
EI24
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF5A
ELAC2
ELOVL4
ELOVL5
ELP1
EMG1
EMX2
ENTPD1
EOMES
EP300
EPB41L1
EPG5
EPM2A
ERBB3
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC6L2
ERCC8
ERLIN2
ERMARD
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
EXOSC8
EZH2
FA2H
FADD
FAM126A
FAM149B1
FAM20C
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FARS2
FASTKD2
FAT4
FBN1
FBXL4
FBXO31
FBXO38
FBXO7
FCSK
FEZF1
FGD1
FGD4
FGF14
FGF17
FGF8
FGFR1
FGFR2
FGFR3
FH
FIG4
FKBP14
FKRP
FKTN
FLNA
FLRT3
FLVCR1
FLVCR2
FMN2
FMR1
FOLR1
FOXC1
FOXG1
FOXH1
FOXP1
FOXP2
FOXRED1
FRAS1
FREM2
FRMD7
FTL
FTO
FTSJ1
FUCA1
FUS
FXN
FXR1
G6PC3
GAA
GABRA1
GABRB3
GABRD
GABRG2
GAD1
GAL
GALC
GALE
GALK1
GALT
GAMT
GAN
GARNL3
GARS
GAS1
GAS2L2
GATA6
GATAD2B
GATM
GBA
GBA2
GBE1
GCDH
GCH1
GCLC
GCSH
GDAP1
GDI1
GDNF
GFAP
GFER
GFM1
GHRHR
GJB1
GJB3
GJC2
GK
GLA
GLB1
GLDC
GLE1
GLI2
GLI3
GLIS3
GLRA1
GLRB
GLRX5
GLUL
GLYCTK
GM2A
GMPPA
GMPPB
GNAI1
GNAL
GNAO1
GNAS
GNB4
GNE
GNPAT
GNPTAB
GNRH1
GNS
GOSR2
GPC3
GPC6
GPHN
GPSM2
GPT2
GPX4
GRAMD1B
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIP1
GRM1
GSS
GTF2H5
GUSB
GYS1
GYS2
H19
HADH
HADHA
HADHB
HARS
HARS2
HAX1
HBB
HCCS
HCFC1
HCN1
HCRT
HDAC4
HDAC6
HDAC8
HDC
HEPACAM
HERC2
HES7
HESX1
HEXA
HEXB
HGSNAT
HIBCH
HK1
HLCS
HMBS
HMGB3
HMGCL
HMGCS2
HNRNPK
HOXA1
HOXB1
HPCA
HPD
HPRT1
HPSE2
HRAS
HS6ST1
HSD17B10
HSD17B4
HSPB1
HSPB8
HSPD1
HTRA1
HTT
HUWE1
HYLS1
IARS2
IBA57
ICK
IDH2
IDS
IDUA
IER3IP1
IFIH1
IFT140
IFT172
IFT27
IFT88
IGBP1
IGF1
IGF2
IGHMBP2
IGSF1
IKBKG
IL17RD
IL1RAPL1
INF2
INPP4A
INPP5E
INVS
IPO13
IQSEC2
ISCA2
ISCU
ISG15
ITCH
ITGA7
ITPR1
IVD
JAG1
JAM3
JPH3
KANK1
KANSL1
KARS
KAT6A
KAT6B
KATNB1
KCNA1
KCNA2
KCNC1
KCNC3
KCND3
KCNH1
KCNJ10
KCNJ11
KCNJ6
KCNK4
KCNK9
KCNMA1
KCNQ1OT1
KCNQ2
KCNQ3
KCNT1
KCTD17
KCTD7
KDM2B
KDM5C
KDM6A
KIAA0586
KIF11
KIF14
KIF1A
KIF1B
KIF1BP
KIF1C
KIF2A
KIF4A
KIF5A
KIF5C
KIF7
KIRREL3
KISS1
KISS1R
KMT2A
KMT2D
KMT2E
KMT5B
KNL1
KPTN
KRAS
KRIT1
L1CAM
L2HGDH
LAMA1
LAMA2
LAMB1
LAMB2
LAMC3
LAMP2
LARGE1
LARP7
LARS
LARS2
LEMD2
LGI1
LHX3
LHX4
LIAS
LIFR
LIG4
LINS1
LIPT1
LITAF
LMBRD1
LMNA
LMNB1
LMNB2
LONP1
LRP2
LRP4
LRPPRC
LRSAM1
LYRM4
LYRM7
LYST
LZTFL1
LZTR1
MAB21L2
MACF1
MAF
MAGEL2
MAGT1
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
MAPK10
MAPK8IP3
MAPT
MARS
MARS2
MASP1
MAT1A
MBD5
MBTPS2
MCCC1
MCCC2
MCEE
MCOLN1
MCPH1
MECP2
MED12
MED13L
MED17
MED20
MED23
MED25
MEF2C
METTL23
MFF
MFN2
MFSD2A
MFSD8
MGAT2
MGME1
MGP
MICU1
MID1
MID2
MIR17HG
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMUT
MOCS1
MOCS2
MOG
MOGS
MPC1
MPDU1
MPDZ
MPLKIP
MPV17
MPZ
MR1
MRE11
MRPL3
MRPS16
MRPS22
MSL3
MT-ATP8
MT-CO1
MT-CYB
MT-ND1
MT-TH
MT-TI
MT-TL1
MT-TS1
MTFMT
MTHFD1
MTHFR
MTMR2
MTO1
MTOR
MTPAP
MTR
MTRR
MTTP
MUSK
MVK
MYCN
MYH14
MYL1
MYO10
MYO18B
MYO5A
MYOT
MYT1L
NAA10
NADK2
NAGA
NAGLU
NAGS
NALCN
NARS2
NAT8L
NBN
NCAPG2
NDE1
NDP
NDRG1
NDST1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA6
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB11
NDUFB3
NDUFB9
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NECTIN1
NEFL
NEU1
NEXMIF
NF1
NFIB
NFIX
NFU1
NGF
NGLY1
NHEJ1
NHLRC1
NHP2
NHS
NIN
NIPA1
NIPBL
NKX2-1
NLGN3
NLGN4X
NLRP3
NMNAT2
NOP10
NOP56
NOTCH2
NOTCH3
NPC1
NPC2
NPHP1
NPHP3
NR2F1
NRAS
NRXN1
NSD1
NSDHL
NSMF
NSUN2
NT5C2
NTRK1
NTRK2
NUBPL
NUP62
NXF5
OAT
OCLN
OCRL
OFD1
OPA1
OPA3
OPHN1
ORAI1
ORC1
ORC4
ORC6
OSTM1
OTC
OTUD4
OTX2
OXCT1
P4HB
PACS1
PAFAH1B1
PAH
PAK1
PAK3
PALB2
PAM16
PANK2
PARN
PAX1
PAX6
PAX8
PC
PCCA
PCCB
PCDH19
PCGF2
PCLO
PCNA
PCNT
PDCD10
PDE4D
PDE6D
PDE8B
PDGFRB
PDHA1
PDHB
PDHX
PDK3
PDP1
PDSS1
PDSS2
PDX1
PDYN
PEPD
PER2
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP1
PGAP2
PGAP3
PGK1
PGM1
PGM3
PHC1
PHEX
PHF21A
PHF6
PHF8
PHGDH
PHKA2
PHKG2
PHOX2B
PHYH
PI4KA
PIEZO2
PIGA
PIGM
PIGN
PIGO
PIGS
PIGV
PIGW
PIK3CA
PIK3R2
PIK3R5
PLA2G6
PLCB1
PLEKHG5
PLG
PLK4
PLP1
PMM2
PMP22
PNKD
PNKP
PNP
PNPLA1
PNPLA6
PNPLA8
PNPO
PNPT1
POC1A
POGZ
POLA1
POLG
POLG2
POLH
POLR1C
POLR3A
POLR3B
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POR
PORCN
POU1F1
PPM1D
PPOX
PPP2CA
PPP2R1A
PPP2R2B
PPP2R5D
PPT1
PQBP1
PRDM12
PRDM8
PRICKLE1
PRICKLE2
PRKAR1A
PRKCG
PRKDC
PRKN
PRKRA
PRNP
PRODH
PROK2
PROKR2
PROP1
PRPS1
PRRT2
PRSS12
PRX
PSAP
PSAT1
PSEN1
PSEN2
PSMB8
PSPH
PTCH1
PTCHD1
PTDSS1
PTEN
PTF1A
PTPN11
PTRH2
PTS
PUF60
PURA
PUS1
PUS7
PYCR1
PYCR2
QARS
QDPR
QRICH1
RAB18
RAB23
RAB27A
RAB33B
RAB39B
RAB3GAP1
RAB3GAP2
RAB7A
RAD21
RAD50
RAD51
RAD51C
RAF1
RAI1
RALA
RANBP2
RAPSN
RARB
RARS
RARS2
RBBP8
RBCK1
RBM10
RBM28
RBPJ
RDH11
REEP1
REEP2
RELN
RET
RETREG1
RFC1
RFT1
RIN2
RIT1
RMND1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF113A
RNF125
RNF13
RNF135
RNF168
RNF216
RNU4ATAC
ROBO3
ROGDI
RPGRIP1L
RPIA
RPL15
RPS19
RPS6KA3
RRM2B
RTEL1
RTN2
RTTN
RUBCN
RXYLT1
SACS
SALL1
SAMHD1
SAR1B
SARS2
SASS6
SATB2
SBF1
SBF2
SC5D
SCARB2
SCN11A
SCN1A
SCN1B
SCN2A
SCN4A
SCN8A
SCN9A
SCO1
SCO2
SDCCAG8
SDHA
SDHAF1
SDHD
SECISBP2
SEMA3A
SEMA3E
SEPSECS
SERAC1
SERPINI1
SET
SETBP1
SETD5
SETX
SFXN4
SGCE
SGSH
SH3PXD2B
SH3TC2
SHANK2
SHANK3
SHH
SHOC2
SHROOM4
SIGMAR1
SIK1
SIL1
SIX3
SKI
SKOR2
SLC12A5
SLC12A6
SLC13A5
SLC16A1
SLC16A2
SLC17A5
SLC18A2
SLC19A3
SLC1A3
SLC20A2
SLC22A5
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A19
SLC25A20
SLC25A22
SLC25A3
SLC25A4
SLC25A46
SLC2A1
SLC30A10
SLC33A1
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC46A1
SLC4A4
SLC52A1
SLC52A2
SLC52A3
SLC5A2
SLC6A17
SLC6A19
SLC6A3
SLC6A5
SLC6A8
SLC7A7
SLC9A1
SLC9A6
SLC9A9
SLITRK1
SLX4
SMAD4
SMARCA2
SMARCA4
SMARCAL1
SMARCB1
SMARCC2
SMARCD1
SMARCE1
SMC1A
SMC3
SMN1
SMN2
SMOC1
SMPD1
SMS
SNAP25
SNAP29
SNIP1
SNX14
SOBP
SOS1
SOS2
SOX10
SOX11
SOX18
SOX2
SOX3
SOX4
SOX9
SP110
SPART
SPAST
SPATA5
SPECC1L
SPEG
SPG11
SPG21
SPG7
SPR
SPRED1
SPRY4
SPTAN1
SPTBN2
SPTLC1
SQSTM1
SRCAP
SRD5A3
SRPX2
SSR4
ST3GAL3
ST3GAL5
STAMBP
STIL
STIM1
STRA6
STRADA
STS
STT3A
STT3B
STUB1
STX11
STX1B
STXBP1
STXBP2
SUCLA2
SUCLG1
SUMF1
SUOX
SURF1
SVBP
SYN1
SYNE1
SYNGAP1
SYP
SYT14
SYT2
SZT2
TAC3
TACO1
TACR3
TAF1
TAF2
TARS2
TAS2R38
TAT
TAZ
TBC1D20
TBC1D24
TBC1D7
TBCE
TBK1
TBP
TBRG1
TBX1
TBXAS1
TCF12
TCF20
TCF4
TCIRG1
TCN2
TCTN1
TCTN2
TCTN3
TDGF1
TDP1
TECPR2
TECR
TERC
TERT
TET3
TFAP2A
TFG
TGFBR1
TGFBR2
TGIF1
TGM6
TH
THAP1
THOC2
THRB
TIMM8A
TINF2
TK2
TLE1
TMCO1
TMEM126A
TMEM138
TMEM165
TMEM216
TMEM231
TMEM237
TMEM240
TMEM67
TMEM70
TMEM94
TNFRSF1A
TNFSF11
TOR1A
TPI1
TPK1
TPP1
TRAF3IP1
TRAF3IP2
TRAPPC10
TRAPPC11
TRAPPC9
TRDN
TREX1
TRIM2
TRIM32
TRIM37
TRMT10A
TRMT5
TRMU
TRNT1
TRPA1
TRPS1
TRPV4
TRRAP
TSC1
TSC2
TSEN2
TSEN34
TSEN54
TSFM
TSPAN7
TSPYL1
TTBK2
TTC19
TTC21B
TTC8
TTI2
TTPA
TTR
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP4
TUBGCP6
TUFM
TUSC3
TWIST1
TWNK
TYMP
UBA1
UBAP1
UBE2A
UBE2T
UBE3A
UBE3B
UBR1
UCHL1
UMPS
UPB1
UPF3B
UQCC2
UQCC3
UQCRB
UQCRC2
UQCRQ
UROC1
USP9X
VAMP1
VAMP2
VANGL1
VARS2
VAX1
VLDLR
VPS13A
VPS13B
VPS37A
VPS53
VRK1
WASHC4
WASHC5
WDPCP
WDR11
WDR19
WDR45
WDR62
WDR73
WDR81
WFS1
WNK1
WNK3
WWOX
XK
XPA
XPC
XPNPEP3
XRCC4
XYLT1
YAP1
YARS
YARS2
YWHAE
ZBTB16
ZBTB18
ZBTB20
ZBTB24
ZDHHC15
ZDHHC9
ZEB2
ZFPM2
ZFYVE26
ZIC1
ZIC2
ZIC3
ZMIZ1
ZMPSTE24
ZMYND11
ZNF219
ZNF335
ZNF41
ZNF423
ZNF592
ZNF674
ZNF711
ZNF81
ZSWIM6
Neuromuscular Disorders457 genes
Nom et numéro du panel : Neuromuscular Disorders MDG-1202.01
Gènes inclus dans le panel :
AARS
ABHD12
ABHD5
ACAD9
ACADL
ACADM
ACADS
ACADVL
ACTA1
ACTA2
ACVR1
ADAMTS17
ADAMTS2
ADCY6
ADGRG6
ADSSL1
AGK
AGL
AGRN
AIFM1
ALDOA
ALG14
ALG2
ALG3
AMPD1
ANO5
ANTXR1
ARHGEF10
ARSB
ASAH1
ASCC1
ATL1
ATL3
ATP2A1
ATP6V1B2
ATP7A
AXIN1
B3GALNT2
B3GALT6
B3GAT3
B4GAT1
BAG3
BICD2
BIN1
BMPER
BSCL2
BVES
C12orf65
CACNA1S
CAPN3
CASQ1
CAV3
CAVIN1
CCDC151
CCDC22
CCDC78
CCDC8
CCT5
CDC42
CDT1
CFL2
CHAT
CHCHD10
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST14
CHST3
CKAP2L
CLCN1
CNBP
CNTN1
CNTNAP1
COA3
COL10A1
COL12A1
COL13A1
COL18A1
COL1A1
COL1A2
COL25A1
COL27A1
COL2A1
COL3A1
COL4A1
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
COL9A1
COL9A2
COL9A3
COLQ
COQ6
COQ7
COX6A1
CPT1A
CPT2
CRPPA
CRYAB
CTDP1
CTNS
CUL7
DAG1
DCAF8
DCTN1
DCTN2
DDX58
DES
DGAT2
DGUOK
DHODH
DHTKD1
DMD
DMGDH
DMPK
DNA2
DNAJB2
DNAJB5
DNAJB6
DNM2
DNMT1
DOK7
DPAGT1
DPM1
DPM2
DPM3
DRD2
DRP2
DST
DUX4
DVL1
DYNC1H1
DYSF
ECEL1
EGR2
EIF4A3
ELP1
EMD
ENO3
ERBB3
ETFA
ETFB
ETFDH
EVC
EVC2
EXOSC3
EXOSC8
FAH
FAM111A
FBLN5
FBN2
FBN3
FBXO38
FGD4
FHL1
FHL2
FIG4
FKBP10
FKBP14
FKRP
FKTN
FLNC
G6PC
GAA
GALNS
GAN
GARS
GBE1
GDAP1
GFER
GFPT1
GJB1
GJB3
GLDN
GLE1
GMPPB
GNB4
GNE
GNPTG
GOLGA2
GPC6
GPX4
GYG1
GYS1
HACD1
HADH
HADHA
HADHB
HARS
HEXA
HINT1
HK1
HNRNPA1
HNRNPA2B1
HNRNPDL
HOXD10
HSPB1
HSPB3
HSPB8
HSPG2
HYAL1
IGHMBP2
INF2
INPPL1
ISCA2
ISCU
ITGA7
KARS
KBTBD13
KCNE3
KCNH1
KCNJ2
KCNJ5
KIF1A
KIF1B
KIF21A
KIF22
KIF5A
KLHL40
KLHL41
KLHL9
KY
LAMA2
LAMB2
LAMP2
LARGE1
LAS1L
LDB3
LDHA
LFNG
LIFR
LIMS2
LITAF
LMNA
LMOD3
LPIN1
LRP4
LRSAM1
MADD
MAP3K20
MARS
MATN3
MATR3
MED25
MEGF10
MEGF8
MFN2
MICU1
MME
MMP14
MMP9
MORC2
MPV17
MPZ
MRPL44
MSTN
MT-ATP6
MT-ND5
MT-ND6
MT-TC
MT-TF
MTM1
MTMR14
MTMR2
MTOR
MUSK
MYBPC1
MYF6
MYH14
MYH2
MYH3
MYH7
MYH8
MYL2
MYO18B
MYO9A
MYOT
MYPN
NAGLU
NALCN
NARS2
NBAS
NDRG1
NEB
NEFH
NEFL
NEK9
NGF
NLRP1
NTRK1
OBSL1
OPA1
ORAI1
P4HB
PABPN1
PDHA1
PDK3
PFKM
PGAM2
PGK1
PGM1
PHKA1
PHKA2
PHKB
PHKG2
PHYH
PI4KA
PIEZO2
PIP5K1C
PLEC
PLEKHG5
PLOD1
PLOD2
PMP2
PMP22
PNPLA2
PNPLA6
PNPLA8
POGLUT1
POLG
POLG2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PRDM12
PREPL
PRKAG2
PRKAG3
PRPS1
PRX
PUS1
PYGM
PYROXD1
RAB33B
RAB7A
RAPSN
RBCK1
RBM7
REEP1
RETREG1
RNF125
RRM2B
RXYLT1
RYR1
SALL4
SBF1
SBF2
SCARF2
SCN10A
SCN11A
SCN4A
SCN9A
SCO1
SCO2
SEC23A
SECISBP2
SELENON
SEMA3A
SEPTIN9
SETX
SGCA
SGCB
SGCD
SGCE
SGCG
SH3BP2
SH3TC2
SIGMAR1
SIL1
SLC12A6
SLC16A1
SLC18A3
SLC22A5
SLC25A1
SLC25A20
SLC35D1
SLC39A13
SLC39A8
SLC52A2
SLC52A3
SLC5A7
SMCHD1
SMN1
SMN2
SNAP25
SOX10
SPEG
SPG11
SPTLC1
SPTLC2
SQSTM1
STAC3
STIM1
SUCLA2
SUN1
SUN2
SURF1
SYNE1
SYNE2
SYT2
TAZ
TBX15
TBX3
TBX4
TBX6
TCAP
TECPR2
TFG
TGDS
TGFB1
TIA1
TK2
TMEM43
TNNI2
TNNT1
TNNT3
TNPO3
TNXB
TOR1AIP1
TPM2
TPM3
TRAF3IP1
TRAPPC11
TRIM2
TRIM32
TRIM54
TRIM63
TRIP4
TRPV4
TSEN54
TTN
TTR
TWIST1
TWNK
TYMP
UBA1
VAPB
VCP
VIPAS39
VMA21
VPS13A
VPS33B
VRK1
WNK1
WRN
XK
YARS
YARS2
ZC4H2
ZNF106
Epilepsy478 genes
Nom et numéro du panel : Epilepsy MDG-1204.01
Gènes inclus dans le panel :
ABAT
ABCD1
ACTB
ACTG1
ACY1
ADAR
ADGRG1
ADGRV1
ADSL
AGA
AHI1
AIMP1
ALDH4A1
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
ALG8
ALG9
AMACR
AMT
APTX
ARFGEF2
ARG1
ARHGEF15
ARHGEF9
ARL13B
ARSA
ARX
ASAH1
ASPA
ASPM
ATIC
ATP1A2
ATP1A3
ATP6AP2
ATPAF2
ATR
ATRX
B4GALT1
BCKDK
BCS1L
BRAT1
BTD
BUB1B
C12orf57
C12orf65
CACNA1A
CACNA1H
CACNA2D2
CACNB4
CARS2
CASK
CASR
CBL
CC2D2A
CDK5RAP2
CDKL5
CDON
CENPJ
CEP135
CEP152
CEP164
CEP290
CEP41
CEP63
CERS1
CHD2
CHMP1A
CHRNA2
CHRNA4
CHRNA7
CHRNB2
CLCN2
CLCN4
CLN3
CLN5
CLN6
CLN8
CNTN2
CNTNAP2
COG1
COG4
COG5
COG6
COG7
COG8
COL4A1
COQ2
COQ4
COQ6
COQ8A
COQ9
COX10
COX15
CPA6
CPLANE1
CPT2
CRPPA
CSTB
CTSA
CTSD
CTSF
CUL4B
DCX
DDOST
DEPDC5
DHCR24
DHCR7
DIAPH1
DLD
DNAJC5
DNM1
DOCK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DYNC1H1
DYRK1A
EEF1A2
EFHC1
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EMX2
EPM2A
ETFA
ETFB
ETFDH
EXOSC3
EZH2
FAM126A
FARS2
FASN
FAT4
FH
FKRP
FKTN
FLNA
FLVCR2
FOLR1
FOXG1
FOXH1
FRRS1L
FUCA1
GABBR2
GABRA1
GABRB2
GABRB3
GABRD
GABRG2
GAL
GALC
GAMT
GATM
GCDH
GCH1
GCSH
GFAP
GJC2
GLB1
GLDC
GLI2
GLRA1
GLRB
GNAO1
GNE
GNPTAB
GNS
GOSR2
GPC3
GPHN
GRIA3
GRIN1
GRIN2A
GRIN2B
GRN
GUSB
HCN1
HDAC4
HEPACAM
HEXA
HEXB
HGSNAT
HNRNPU
HPD
HSD17B10
HSPD1
IDUA
IER3IP1
INPP5E
IQSEC2
ITPA
JMJD1C
JRK
KANSL1
KCNA1
KCNA2
KCNB1
KCNC1
KCND2
KCNH2
KCNH5
KCNJ10
KCNJ11
KCNMA1
KCNQ2
KCNQ3
KCNT1
KCTD7
KDM5C
KDM6A
KIF2A
KIF7
KMT2D
KPNA7
L2HGDH
LAMA2
LAMC3
LARGE1
LGI1
LIAS
LMNB2
LRPPRC
MAGI2
MAN1B1
MAPK10
MBD5
MCOLN1
MCPH1
MECP2
MED12
MED17
MEF2C
MFSD8
MGAT2
MLC1
MOCS1
MOCS2
MOGS
MPDU1
MT-ATP6
MTHFR
MTOR
NAGLU
NDE1
NDUFA1
NDUFA2
NDUFS1
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NECAP1
NEDD4L
NEU1
NEXMIF
NFIX
NGLY1
NHEJ1
NHLRC1
NIN
NOTCH3
NPC1
NPC2
NPHP1
NPRL3
NR2F1
NRXN1
NSD1
OFD1
OPHN1
PACS1
PAFAH1B1
PAK3
PC
PCDH19
PCNT
PDE6D
PDHA1
PDSS1
PDSS2
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGK1
PGM1
PHF6
PIGA
PIGG
PIGN
PIGO
PIGQ
PIGV
PIK3AP1
PLA2G6
PLCB1
PLP1
PMM2
PNKD
PNKP
PNPO
POLG
POLR3A
POLR3B
POMGNT1
POMT1
POMT2
PPT1
PQBP1
PRDM8
PRICKLE1
PRICKLE2
PRIMA1
PRODH
PRRT2
PSAP
PTCH1
PTEN
PTS
PURA
QARS
QDPR
RAB18
RAB39B
RAB3GAP1
RAB3GAP2
RAI1
RARS2
RBBP8
RBFOX1
RBFOX3
RELN
RFT1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF13
ROGDI
RPGRIP1L
RTTN
RXYLT1
RYR3
SAMHD1
SATB2
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN5A
SCN8A
SCN9A
SCO2
SDHA
SEPSECS
SERPINI1
SETD2
SGCE
SGSH
SHH
SIK1
SIX3
SLC12A5
SLC13A5
SLC17A5
SLC19A3
SLC1A3
SLC25A12
SLC25A15
SLC25A19
SLC25A22
SLC2A1
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC46A1
SLC6A1
SLC6A5
SLC6A8
SLC9A6
SMARCA2
SMC1A
SMPD1
SMS
SNAP25
SNAP29
SNX27
SOX10
SPATA5
SPTAN1
SRD5A3
SRPX2
ST3GAL3
ST3GAL5
STAMBP
STIL
STRADA
STX1B
STXBP1
SUMF1
SUOX
SURF1
SYN1
SYNGAP1
SYNJ1
SYP
SZT2
TACO1
TBC1D24
TBCE
TBL1XR1
TCF4
TCTN1
TCTN2
TCTN3
TGIF1
TMEM138
TMEM165
TMEM216
TMEM231
TMEM237
TMEM67
TMEM70
TPK1
TPP1
TREX1
TSC1
TSC2
TSEN2
TSEN34
TSEN54
TTC21B
TUBA1A
TUBA8
TUBB2B
TUBB3
TUBB4A
TUBG1
TWNK
UBE2A
UBE3A
VANGL1
VLDLR
VPS13A
VRK1
WDR45
WDR62
WWOX
ZDHHC9
ZEB2
ZIC2
ZNF335
ZNF423
Intellectual Disability1931 genes
Nom et numéro du panel : Intellectual Disability MDG-1206.04
Gènes inclus dans le panel :
AAAS
AARS
AARS2
AASS
ABAT
ABCB11
ABCC6
ABCC9
ABCD1
ABCD4
ABCG5
ABHD5
ABI2
ACAD8
ACAD9
ACADM
ACADS
ACADVL
ACAN
ACAT1
ACO2
ACOX1
ACP5
ACSF3
ACSL4
ACTA2
ACTB
ACTG1
ACTL6A
ACTL6B
ACVR1
ACY1
ADA
ADAM28
ADAMTS10
ADAMTS9
ADAR
ADCY5
ADGRG1
ADGRG6
ADK
ADNP
ADPRHL2
ADRA2B
ADSL
AFF2
AFF4
AFG3L2
AGA
AGL
AGO1
AGPAT2
AGPS
AGT
AGTR2
AGXT
AHCY
AHDC1
AHI1
AHSG
AIFM1
AIMP1
AIPL1
AIRE
AK1
AK2
AKR1D1
AKT1
AKT3
ALAD
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALDOA
ALDOB
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
ALG8
ALG9
ALKBH8
ALMS1
ALPK1
ALPL
ALS2
ALX1
ALX3
ALX4
AMER1
AMHR2
AMPD2
AMT
ANK3
ANKH
ANKHD1
ANKRD11
ANO10
ANO5
ANOS1
ANTXR1
AP1S1
AP1S2
AP3B1
AP3B2
AP4B1
AP4E1
AP4M1
AP4S1
APTX
AR
ARFGEF2
ARFGEF3
ARG1
ARHGAP31
ARHGAP32
ARHGAP33
ARHGEF6
ARHGEF9
ARID1A
ARID1B
ARID2
ARL13B
ARL14EP
ARL3
ARL6
ARMC4
ARMC9
ARNT2
ARSA
ARSB
ARSE
ARV1
ARX
ASAH1
ASH1L
ASL
ASNS
ASPA
ASPM
ASS1
ASTN1
ASTN2
ASXL1
ASXL2
ASXL3
ATAD3A
ATIC
ATL1
ATM
ATOH1
ATP10A
ATP13A1
ATP13A2
ATP1A1
ATP1A2
ATP1A3
ATP2A2
ATP5F1A
ATP5F1E
ATP6AP2
ATP6V0A2
ATP6V1B1
ATP6V1B2
ATP7A
ATP8A2
ATP8B1
ATPAF2
ATR
ATRIP
ATRX
AUH
AUTS2
AVP
AVPR1A
AVPR2
B3GALNT2
B3GALT6
B3GLCT
B3GNT2
B4GALNT1
B4GALT1
B4GALT7
B4GAT1
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCKDHA
BCKDHB
BCKDK
BCL11A
BCOR
BCS1L
BDNF
BFSP2
BGN
BHLHA9
BICD2
BIN1
BLM
BMP4
BMPER
BMPR1B
BOD1
BOLA3
BPTF
BRAF
BRAT1
BRF1
BRIP1
BRPF1
BRSK2
BRWD3
BSCL2
BSND
BTD
BTN3A2
BUB1B
C12orf4
C12orf57
C12orf65
C16orf90
C19orf12
C2CD3
C8orf37
CA2
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1D
CACNA1E
CACNA1G
CACNG2
CACNG7
CAMK2A
CAMK2B
CAMTA1
CANT1
CAPS2
CARNMT1
CARS
CARS2
CASK
CASR
CBL
CBS
CC2D1A
CC2D2A
CCBE1
CCDC103
CCDC114
CCDC22
CCDC40
CCDC47
CCDC65
CCDC88C
CCND2
CCNK
CCNO
CCT5
CD163L1
CD96
CDC42
CDC45
CDC6
CDH11
CDH15
CDH23
CDH3
CDK10
CDK13
CDK16
CDK5
CDK5RAP2
CDK6
CDK8
CDKL5
CDKN1C
CDON
CDT1
CENPE
CENPF
CENPJ
CEP104
CEP135
CEP152
CEP164
CEP290
CEP41
CEP57
CEP63
CEP83
CERT1
CFAP44
CHAF1B
CHAMP1
CHD2
CHD3
CHD4
CHD7
CHD8
CHKB
CHL1
CHM
CHMP1A
CHRDL1
CHRNA4
CHRNG
CHST14
CHST3
CHSY1
CHUK
CIB2
CIC
CIT
CKAP2L
CKAP5
CLCN2
CLCN4
CLCN7
CLCNKB
CLDN19
CLHC1
CLIC2
CLIP1
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLPP
CLTC
CNKSR2
CNNM2
CNOT1
CNOT3
CNTN2
CNTNAP2
CNTNAP5
COA8
COASY
COG1
COG4
COG5
COG6
COG7
COG8
COL10A1
COL11A1
COL18A1
COL1A1
COL1A2
COL2A1
COL4A1
COL4A2
COL4A3
COL4A4
COL6A1
COL9A1
COL9A2
COL9A3
COLEC11
COMP
COPB2
COQ2
COQ4
COQ8A
COQ9
COX10
COX14
COX15
COX20
COX4I2
COX6B1
COX7B
CP
CPA6
CPLANE1
CPNE6
CPS1
CRADD
CRB1
CRB2
CRBN
CREBBP
CRIPT
CRLF1
CRPPA
CRX
CRYAA
CRYBA1
CRYBB1
CRYBB2
CRYBB3
CRYGD
CSF1R
CSNK2A1
CSPP1
CSTB
CTC1
CTCF
CTDP1
CTNNB1
CTNS
CTR9
CTSA
CTSD
CTSF
CTSK
CUL4B
CUX1
CWF19L1
CYB5R3
CYC1
CYP1B1
CYP27A1
CYP2U1
CYP7B1
D2HGDH
DAG1
DARS
DARS2
DBT
DCAF17
DCC
DCHS1
DCX
DDB2
DDC
DDHD2
DDOST
DDX11
DDX3X
DDX50
DDX53
DDX59
DDX6
DEAF1
DENND2A
DENND5A
DEPDC5
DGUOK
DHCR24
DHCR7
DHDDS
DHFR
DHPS
DHTKD1
DHX30
DIAPH1
DICER1
DIP2B
DIS3L2
DKC1
DLAT
DLD
DLG1
DLG2
DLG3
DLG4
DLGAP2
DLL3
DLL4
DLX6
DMBX1
DMD
DMP1
DMPK
DMXL2
DNA2
DNAAF3
DNAAF4
DNAH3
DNAJC12
DNAJC19
DNAJC6
DNHD1
DNM1
DNM1L
DNMT3A
DNMT3B
DOCK4
DOCK6
DOCK7
DOCK8
DOK7
DOLK
DPAGT1
DPF2
DPH1
DPM1
DPM2
DPM3
DPP10
DPP6
DPYD
DRD2
DSE
DSPP
DST
DSTYK
DVL1
DYM
DYNC1H1
DYNC1I2
DYNC2H1
DYRK1A
DYRK4
EARS2
EBF3
EBP
ECEL1
ECHS1
ECM1
EDA
EDNRA
EED
EEF1A2
EEF1B2
EFNB1
EFTUD2
EGR2
EHMT1
EI24
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
EIF4A3
EIF5A
ELAC2
ELN
ELOVL4
ELP2
EMG1
EML1
EMX2
ENPP1
ENTPD1
EOGT
EOMES
EP300
EPB41L1
EPB41L4A
EPG5
EPRS
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC6L2
ERCC8
ERF
ERLIN2
ERMARD
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EVA1B
EVC
EVC2
EXOSC2
EXOSC3
EXOSC8
EXOSC9
EXT2
EXTL3
EYA1
EZH2
FA2H
FAAH2
FADD
FAM111A
FAM120AOS
FAM120C
FAM126A
FAM149B1
FAM160B1
FAM161A
FAM177A1
FAM20A
FAM20C
FAM50A
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FAR1
FARS2
FASTKD2
FAT4
FBLN5
FBN1
FBP1
FBXL4
FBXO11
FBXO31
FBXW4
FCSK
FDFT1
FEZF2
FGD1
FGD4
FGF10
FGF12
FGF14
FGF3
FGFR1
FGFR2
FGFR3
FH
FHL1
FIG4
FKBP14
FKRP
FKTN
FLNA
FLNB
FLT4
FLVCR1
FLVCR2
FMN2
FMO4
FMR1
FOLR1
FOXC1
FOXC2
FOXE1
FOXE3
FOXF1
FOXG1
FOXN1
FOXP1
FOXP2
FOXRED1
FRAS1
FREM2
FRMPD4
FTCD
FTL
FTO
FTSJ1
FUCA1
FUT8
FXN
FXR1
FYCO1
FZD3
FZD6
G6PC3
GAA
GABBR2
GABRA1
GABRB2
GABRB3
GABRG1
GABRG2
GAD1
GALC
GALE
GALK1
GALT
GAMT
GAN
GARNL3
GAS8
GATA2
GATA4
GATA6
GATAD2B
GATM
GBA
GBA2
GBE1
GCDH
GCH1
GCK
GCSH
GDF5
GDF6
GDI1
GEMIN4
GFAP
GFER
GFM1
GHR
GJA1
GJA3
GJA8
GJB1
GJB2
GJB3
GJC2
GK
GLB1
GLDC
GLE1
GLI2
GLI3
GLIS1
GLIS3
GLMN
GLRA1
GLRB
GLS
GLUL
GLYCTK
GM2A
GMPPA
GMPPB
GNA14
GNAI1
GNAI3
GNAO1
GNAS
GNB1
GNE
GNPAT
GNPTAB
GNPTG
GNS
GOSR2
GPAA1
GPC3
GPHN
GPR179
GPSM2
GPT2
GRAMD1B
GRHL3
GRIA1
GRIA2
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIP1
GRM1
GRM6
GRM7
GRPR
GSPT2
GSS
GSX2
GTF2H5
GTF3C3
GTPBP3
GUCY2C
GUSB
GYS2
H19
H3F3A
H3F3B
HACE1
HADH
HADHA
HADHB
HARS
HAX1
HCCS
HCFC1
HCN1
HDAC4
HDAC6
HDAC8
HECW2
HELZ
HEPACAM
HERC1
HERC2
HESX1
HEXA
HEXB
HGSNAT
HIBCH
HINT1
HIRA
HIST1H1C
HIST1H1E
HIST1H4C
HIVEP2
HLCS
HMGB3
HMGCL
HMGCS2
HNF1B
HNF4A
HNRNPH2
HNRNPK
HNRNPU
HOXA1
HOXA13
HOXC13
HOXD10
HOXD13
HPD
HPGD
HPRT1
HPS1
HPSE2
HR
HRAS
HSD17B10
HSD17B4
HSD3B7
HSF4
HSPD1
HSPG2
HTR2A
HTRA2
HTT
HUWE1
HYAL1
HYDIN
HYLS1
IARS
IARS2
IBA57
ICK
IDH2
IDS
IDUA
IER3IP1
IFIH1
IFITM5
IFT122
IFT172
IFT27
IFT43
IFT80
IGBP1
IGF1
IGF1R
IGF2
IGHMBP2
IHH
IL11RA
IL1RAPL1
IL1RAPL2
IMMP2L
IMPA1
IMPAD1
INO80
INPP5E
INPP5K
INPPL1
INSR
IPP
IQSEC2
IRF2BPL
IRF6
IRX5
ISCA2
ITCH
ITGA7
ITGAV
ITPR1
IVD
JAG1
JAGN1
JAK3
JAM3
JPH3
KANK1
KANSL1
KARS
KAT6A
KAT6B
KATNAL2
KATNB1
KBTBD13
KCNA2
KCNB1
KCNC1
KCNC3
KCND3
KCNH1
KCNJ10
KCNJ11
KCNJ6
KCNK4
KCNK9
KCNQ1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCTD1
KCTD13
KCTD3
KCTD7
KDM2B
KDM3B
KDM5B
KDM5C
KDM6A
KIAA0586
KIAA1109
KIDINS220
KIF11
KIF1A
KIF1BP
KIF21A
KIF22
KIF2A
KIF4A
KIF5A
KIF5C
KIF7
KIRREL3
KIT
KLF1
KLF8
KLHL15
KLHL24
KLHL40
KMT2A
KMT2B
KMT2C
KMT2D
KMT2E
KMT5B
KNL1
KPTN
KRAS
L1CAM
L2HGDH
LAMA1
LAMA2
LAMB1
LAMB2
LAMC3
LAMP2
LARGE1
LARP7
LAS1L
LBR
LDB3
LEMD3
LFNG
LGI4
LHX3
LHX4
LIAS
LIG4
LINS1
LIPT2
LMBRD1
LMNA
LMNB1
LMX1B
LNPK
LONP1
LPIN3
LRP2
LRP4
LRP5
LRPPRC
LRRC6
LTBP2
LTBP3
LYRM7
LYST
LZTFL1
MAB21L2
MACF1
MADD
MAF
MAGEL2
MAGT1
MAMDC2
MAN1B1
MAN2B1
MANBA
MAOA
MAP2K1
MAP2K2
MAP3K1
MAP4K4
MAPK10
MAPK8
MAPK8IP3
MAPRE2
MAPT
MASP1
MAT1A
MATN3
MATN4
MAU2
MBD5
MBOAT7
MBTPS2
MC2R
MCCC1
MCCC2
MCOLN1
MCPH1
MDH2
MECP2
MED12
MED13
MED13L
MED17
MED23
MED25
MEF2C
MESP2
MET
METTL23
MFF
MFN2
MFRP
MFSD11
MFSD2A
MFSD8
MGAT2
MGME1
MGP
MICU1
MICU2
MID1
MID2
MIR17HG
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMP13
MMUT
MNX1
MOCS1
MOCS2
MOGS
MPDU1
MPDZ
MPI
MPLKIP
MPV17
MPZ
MRAP
MRE11
MRM2
MRPL3
MRPS16
MRPS22
MSL3
MSMO1
MSX1
MSX2
MTFMT
MTHFR
MTM1
MTO1
MTOR
MTR
MTRR
MTSS2
MVK
MYCN
MYF5
MYH6
MYH8
MYH9
MYO5A
MYO5B
MYOCD
MYT1L
NAA10
NAA15
NACC1
NADK2
NAGA
NAGLU
NAGS
NALCN
NANS
NAT8L
NBAS
NBN
NCAPG2
NCKAP1
NDE1
NDP
NDST1
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA6
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB3
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEGR1
NEK1
NEMF
NEU1
NEURL4
NEUROD2
NEXMIF
NF1
NFASC
NFIA
NFIB
NFIX
NFU1
NGF
NGLY1
NHEJ1
NHLRC1
NHP2
NHS
NID1
NIN
NIPBL
NKX2-1
NKX3-2
NKX6-2
NLGN3
NLGN4X
NLRP3
NMNAT1
NODAL
NOG
NONO
NOP10
NOTCH2
NOVA2
NPC1
NPC2
NPHP1
NPHP3
NPHP4
NPHS1
NPR2
NR2F1
NR2F2
NR5A1
NRAS
NRXN1
NRXN2
NSD1
NSDHL
NSUN2
NT5C2
NT5C3A
NTNG1
NTRK1
NTRK2
NUBPL
NUDT2
NUP107
NUP62
NYX
OCLN
OCM2
OCRL
ODAPH
OFD1
OGT
OPA3
OPHN1
ORC1
ORC4
ORC6
OSGEP
OTC
OTOGL
OTUD5
OTUD6B
OTUD7A
OTULIN
OTX2
P4HA3
PACS1
PACS2
PAFAH1B1
PAH
PAK1
PAK3
PAM16
PANK2
PAPSS2
PARN
PAX1
PAX3
PAX6
PAX8
PAX9
PBX1
PC
PCARE
PCCA
PCCB
PCDH19
PCDH9
PCDHB4
PCDHGA10
PCGF2
PCNA
PCNT
PDE10A
PDE4D
PDE6D
PDE6G
PDGFRB
PDHA1
PDHB
PDHX
PDP1
PDPR
PDSS1
PDSS2
PEPD
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP1
PGAP2
PGAP3
PGK1
PGM1
PGM3
PHC1
PHF21A
PHF6
PHF8
PHGDH
PHKA2
PHKG2
PIANP
PIDD1
PIGA
PIGL
PIGN
PIGO
PIGS
PIGT
PIGV
PIGW
PIK3CA
PIK3R1
PIK3R2
PIP5K1A
PIP5K1B
PITX2
PITX3
PIWIL1
PKD1L1
PKHD1
PLA2G6
PLAA
PLCB1
PLK2
PLK4
PLOD2
PLP1
PLPBP
PMM2
PMPCB
PMS2
PNKP
PNP
PNPLA6
PNPO
PNPT1
POC1A
POC1B
POGZ
POLA1
POLD1
POLG
POLG2
POLR1C
POLR1D
POLR3A
POLR3B
POLRMT
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PON3
PORCN
POU1F1
PPA2
PPM1D
PPOX
PPP1CB
PPP1R21
PPP2CA
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRDM12
PRICKLE1
PRKAR1A
PRKD1
PRKDC
PRKRA
PRMT7
PROCA1
PRODH
PROP1
PRPS1
PRRT2
PRSS12
PRSS56
PRUNE1
PSAP
PSAT1
PSMB8
PSMD12
PSPH
PTCH1
PTCHD1
PTDSS1
PTEN
PTF1A
PTH1R
PTHLH
PTPN11
PTPN23
PTRH2
PTS
PUF60
PURA
PUS1
PUS7
PYCR1
PYCR2
PYGL
QARS
QDPR
QRFPR
QRICH1
RAB11B
RAB18
RAB23
RAB27A
RAB39B
RAB3GAP1
RAB3GAP2
RAB40AL
RAC1
RAD21
RAD50
RAF1
RAI1
RALA
RANBP2
RAPSN
RARB
RARS
RARS2
RASA1
RAX
RBBP8
RBFOX1
RBM10
RBM28
RBPJ
RCAN1
RDH11
RELN
RERE
RETREG1
RFT1
RFX6
RGL1
RHOBTB2
RIN2
RIT1
RLIM
RMND1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF125
RNF13
RNF135
RNF168
RNFT2
RNU4ATAC
ROBO3
ROGDI
ROR2
RORA
RPE65
RPGRIP1
RPGRIP1L
RPIA
RPL10
RPLP1
RPS19
RPS23
RPS6KA3
RRM2B
RSPH1
RSPH3
RSPO4
RTEL1
RTN4IP1
RTTN
RUBCN
RUNX2
RXYLT1
SACS
SALL1
SALL4
SAMD9
SAMHD1
SARS2
SASS6
SATB2
SBDS
SBF1
SC5D
SCARF2
SCG2
SCGN
SCN11A
SCN1A
SCN2A
SCN3A
SCN4A
SCN8A
SCO1
SCO2
SDCCAG8
SDHA
SDHAF1
SEC23B
SEC24D
SEMA3E
SEPSECS
SERAC1
SET
SETBP1
SETD1A
SETD1B
SETD2
SETD5
SFXN4
SGCA
SGPL1
SGSH
SH3PXD2B
SHANK1
SHANK2
SHANK3
SHH
SHOC2
SHROOM4
SIK1
SIL1
SIN3A
SIX1
SIX3
SIX4
SIX5
SKI
SKIV2L
SLAIN1
SLC12A2
SLC12A5
SLC12A6
SLC13A5
SLC16A1
SLC16A2
SLC17A5
SLC19A3
SLC20A2
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A19
SLC25A20
SLC25A22
SLC25A26
SLC25A3
SLC25A38
SLC26A2
SLC27A4
SLC2A1
SLC2A2
SLC33A1
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC35D1
SLC39A13
SLC39A14
SLC39A8
SLC45A1
SLC46A1
SLC4A1
SLC4A11
SLC4A4
SLC5A2
SLC5A5
SLC6A1
SLC6A17
SLC6A19
SLC6A3
SLC6A4
SLC6A8
SLC6A9
SLC7A7
SLC9A1
SLC9A6
SLC9A9
SLK
SLX4
SMAD3
SMAD4
SMARCA2
SMARCA4
SMARCB1
SMARCC2
SMARCD1
SMARCD2
SMARCE1
SMC1A
SMC3
SMCHD1
SMG6
SMOC1
SMPD1
SMPD4
SMS
SNAP25
SNAP29
SNIP1
SNORD118
SNRPB
SNRPN
SNX14
SOBP
SON
SOS1
SOX10
SOX11
SOX17
SOX2
SOX3
SOX4
SOX5
SOX9
SPAG1
SPART
SPAST
SPATA5
SPDL1
SPECC1L
SPEG
SPG11
SPG21
SPR
SPRED1
SPTAN1
SPTBN2
SPTBN4
SQSTM1
SRCAP
SRD5A3
SRGAP3
SRPX2
SRY
SSR3
SSR4
ST3GAL3
ST3GAL5
ST7
STAG1
STAMBP
STAR
STARD9
STAT1
STAT5B
STIL
STK3
STK32C
STRA6
STRADA
STS
STT3A
STT3B
STUB1
STX11
STX1B
STXBP1
STXBP5
SUCLA2
SUCLG1
SUMF1
SUOX
SURF1
SVBP
SYDE2
SYN1
SYNGAP1
SYNJ1
SYP
SYT1
SYT14
SZT2
TAB2
TACO1
TADA1
TAF1
TAF13
TAF2
TAF6
TANGO2
TARS2
TAT
TAZ
TBC1D20
TBC1D23
TBC1D24
TBC1D7
TBCD
TBCE
TBCK
TBL1XR1
TBR1
TBRG1
TBX1
TBX15
TBX20
TBX22
TBX3
TBX4
TBX5
TBXAS1
TCF12
TCF20
TCF4
TCN2
TCTN1
TCTN2
TCTN3
TECPR2
TECR
TEK
TERT
TET1
TET3
TFAP2A
TGFB1
TGFB2
TGFB3
TGFBR1
TGFBR2
TGIF1
TH
THOC2
THOC6
THRA
THRB
TIMM8A
TINF2
TLE1
TLK2
TMCO1
TMEM126B
TMEM138
TMEM165
TMEM216
TMEM231
TMEM237
TMEM240
TMEM67
TMEM70
TMEM92
TMEM94
TMPRSS6
TMTC3
TMX2
TNIK
TOE1
TOP3A
TP53TG5
TP63
TPH2
TPK1
TPP1
TRAF3IP2
TRAF7
TRAK1
TRAPPC10
TRAPPC11
TRAPPC12
TRAPPC2
TRAPPC6B
TRAPPC9
TRERF1
TREX1
TRHR
TRIM32
TRIO
TRIP11
TRIP12
TRIT1
TRMT1
TRMT10A
TRNT1
TRPM1
TRPM6
TRPS1
TRPV4
TRRAP
TSC1
TSC2
TSEN15
TSEN2
TSEN34
TSEN54
TSFM
TSHB
TSHR
TSPAN7
TTC19
TTC37
TTC5
TTC8
TTI1
TTI2
TTR
TUBA1A
TUBA3E
TUBA8
TUBAL3
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP2
TUBGCP4
TUBGCP6
TUFM
TUSC3
TWIST1
TWIST2
TWNK
TXNL4A
TYR
TYRP1
UBA5
UBA7
UBE2A
UBE3A
UBE3B
UBE4A
UBR1
UBTF
UCHL1
UFC1
UGT1A1
UMPS
UNC80
UPB1
UPF3B
UQCC2
UQCC3
UQCRC2
UQCRQ
UROC1
UROS
USB1
USP2
USP27X
USP44
USP9X
UVSSA
VAC14
VAMP1
VAMP2
VARS2
VAX1
VIPAS39
VLDLR
VPS13B
VPS13C
VPS13D
VPS33B
VPS37A
VPS53
VRK1
VSX2
WAC
WASF1
WASHC4
WASHC5
WDPCP
WDR13
WDR19
WDR26
WDR34
WDR35
WDR4
WDR45
WDR45B
WDR62
WDR73
WDR81
WDR93
WFS1
WNK3
WNT1
WNT10B
WNT3
WNT7A
WRAP53
WWOX
XIRP1
XPA
XPC
XPNPEP3
XRCC4
XRRA1
XYLT1
YAP1
YTHDF1
YWHAE
YWHAG
YY1
ZBTB16
ZBTB18
ZBTB20
ZBTB24
ZC3H14
ZC4H2
ZCCHC12
ZDHHC15
ZDHHC9
ZEB2
ZFAT
ZFP57
ZFP92
ZFYVE26
ZIC1
ZIC2
ZIC3
ZMIZ1
ZMPSTE24
ZMYM3
ZMYM5
ZMYND11
ZNF148
ZNF335
ZNF41
ZNF423
ZNF507
ZNF592
ZNF674
ZNF711
ZNF804A
ZNF81
ZNHIT6
ZSWIM6
Meningioma - Schwannoma9 genes
Nom et numéro du panel : Meningioma - Schwannoma MDG-1224.00
Gènes inclus dans le panel :
LZTR1
MN1
NF1
NF2
PDGFB
PTEN
SMARCB1
SMARCE1
SUFU
Cortical development anomalies75 genes
Nom et numéro du panel : Cortical development anomalies MDG-1223.00
Gènes inclus dans le panel :
ACE2
ACTB
ACTG1
ADGRG1
AKT3
ARFGEF2
ARX
ASPM
B3GALNT2
CCND2
CDK13
CRADD
CSNK2A1
DAG1
DCX
DYNC1H1
EMX2
FAT4
FDFT1
FKRP
FKTN
FLNA
GPSM2
ISPD
KATNB1
KIF1BP
KIF2A
KIF5C
LAMB1
LAMC3
LARGE1
MTOR
NDE1
NEDD4L
OCLN
OSGEP
PAFAH1B1
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PIK3CA
PIK3R2
POMGNT1
POMGNT2
POMT1
POMT2
RAB18
RAB3GAP1
RAB3GAP2
RELN
RTTN
RXYLT1
SMO
SMPD4
TMX2
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBG1
VLDLR
WDR62
Primary Dystonia10 genes
Nom et numéro du panel : Primary Dystonia MDG-1209.00
Gènes inclus dans le panel :
ADCY5
GCH1
KMT2B
PNKD
PRRT2
SGCE
SLC2A1
TH
THAP1
TOR1A
Neuropathies103 genes
Nom et numéro du panel : Neuropathies MDG-1203.00
Gènes inclus dans le panel :
AARS
AIFM1
ARHGEF10
ATL1
ATL3
ATP7A
BICD2
BSCL2
C12orf65
CCT5
CHCHD10
COX6A1
CTDP1
DCTN1
DHTKD1
DNAJB2
DNM2
DNMT1
DST
DYNC1H1
EGR2
ELP1
EMD
FBLN5
FBXO38
FGD4
FIG4
FLRT1
GAN
GARS
GDAP1
GJB1
GLA
GNB4
HARS
HINT1
HK1
HOXD10
HSPB1
HSPB3
HSPB8
IGHMBP2
INF2
KARS
KIF1A
KIF1B
KIF5A
LAS1L
LITAF
LMNA
LRSAM1
MARS
MED25
MFN2
MORC2
MPZ
MT-ATP6
MTMR2
MYH14
NDRG1
NEFL
NGF
NTRK1
PDK3
PHYH
PLEKHG5
PMP22
PRDM12
PRNP
PRPS1
PRX
RAB7A
REEP1
RETREG1
SBF1
SBF2
SCN10A
SCN11A
SCN9A
SETX
SH3TC2
SIGMAR1
SLC12A6
SLC25A46
SLC52A2
SLC52A3
SLC5A7
SMN1
SMN2
SPG11
SPTLC1
SPTLC2
SURF1
TFG
TRIM2
TRPV4
TTR
UBA1
VAPB
VCP
VRK1
WNK1
YARS
Congenital myasthenia49 genes
Nom et numéro du panel : Congenital myasthenia MDG-1214.00
Gènes inclus dans le panel :
AGRN
ALG14
ALG2
ATP1A2
ATP1A3
ATP2A1
CACNA1A
CACNA1S
CAV3
CHAT
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CLCN1
COL13A1
COLQ
DOK7
DPAGT1
ECEL1
FLAD1
GFPT1
GMPPB
HSPG2
KCNA1
KCNJ2
KCNQ5
LAMA5
LAMB2
LRP4
MUSK
MYO9A
PLEC
PREPL
RAPSN
RYR1
SCN4A
SLC18A3
SLC22A2
SLC25A1
SLC5A7
SNAP25
STAC3
STIM1
SYT1
SYT2
UNC13A
VAMP1
Muscular dystrophies and myopathies234 genes
Nom et numéro du panel : Muscular dystrophies and myopathies MDG-1208.00
Gènes inclus dans le panel :
ABHD5
ACAD9
ACADM
ACADS
ACADVL
ACTA1
ADSSL1
AGK
AGL
AHCY
ALDOA
AMPD1
ANO5
ATP2A1
B3GALNT2
B4GAT1
BAG3
BCS1L
BIN1
BVES
C12orf65
CACNA1S
CAPN3
CASQ1
CAV3
CAVIN1
CCDC78
CFL2
CHCHD10
CHKB
CLCN1
CNTN1
COL12A1
COL4A1
COL4A2
COL6A1
COL6A2
COL6A3
COQ2
COQ8A
COQ9
COX10
COX15
CPT2
CRYAB
DAG1
DES
DMD
DNAJB6
DNM2
DOLK
DPM1
DPM2
DPM3
DYSF
EARS2
ECHS1
EMD
ENO3
ETFA
ETFB
ETFDH
ETHE1
FARS2
FBXL4
FDX2
FHL1
FKBP14
FKRP
FKTN
FLAD1
FLNC
FOXRED1
GAA
GBE1
GFER
GFM1
GMPPB
GNE
GYG1
GYS1
HACD1
HADHA
HADHB
HNRNPDL
HRAS
HSPG2
IARS2
ISCU
ISPD
ITGA7
KBTBD13
KCNJ18
KCNJ2
KCNJ5
KLHL24
KLHL40
KLHL41
KLHL9
LAMA2
LAMP2
LARGE1
LDB3
LDHA
LIMS2
LIPT1
LMNA
LMOD3
LPIN1
LRPPRC
MATR3
MEGF10
MICU1
MME
MTFMT
MTM1
MYF6
MYH2
MYH7
MYL2
MYOT
MYPN
NDUFA1
NDUFA10
NDUFA12
NDUFA2
NDUFA4
NDUFA9
NDUFAF2
NDUFAF5
NDUFAF6
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NEB
OPA1
OPA3
ORAI1
PABPN1
PDHA1
PDHB
PDHX
PDSS2
PET100
PFKM
PGAM2
PGK1
PGM1
PHKA1
PHKA2
PHKB
PHKG2
PLEC
PMM2
PNPLA2
PNPLA8
PNPT1
POGLUT1
POLG
POLG2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PUS1
PYGM
RBCK1
RXYLT1
RYR1
SCN4A
SCO1
SCO2
SDHA
SDHAF1
SELENON
SERAC1
SGCA
SGCB
SGCD
SGCG
SIL1
SLC19A3
SLC22A5
SLC25A20
SLC25A3
SLC25A4
SMCHD1
SPEG
SQSTM1
STAC3
STIM1
SUCLA2
SUCLG1
SURF1
SYNE1
SYNE2
TACO1
TANGO2
TAZ
TCAP
TIA1
TK2
TMEM126B
TMEM43
TNNT1
TNPO3
TOR1AIP1
TPK1
TPM2
TPM3
TRAPPC11
TRIM32
TRIM54
TRIM63
TRIP4
TRMU
TRPV4
TSFM
TTC19
TTN
TWNK
TYMP
UQCRQ
VARS2
VCP
VMA21
VPS13A
XK
YARS2
Non dystrophic myotonia9 genes
Nom et numéro du panel : Non dystrophic myotonia MDG-1225.00
Gènes inclus dans le panel :
ATP1A2
CACNA1S
CLCN1
HINT1
HSPG2
KCNJ2
KCNJ18
KCNJ5
SCN4A
Spastic paraplegia and diplegia193 genes
Nom et numéro du panel : Spastic paraplegia and diplegia MDG-1207.00
Gènes inclus dans le panel :
AARS
ABCB7
ABCD1
ADAR
AFG3L2
AIMP1
ALDH18A1
ALDH3A2
ALDH5A1
ALS2
AMPD2
ANG
AP4B1
AP4E1
AP4M1
AP4S1
AP5Z1
ARG1
ARL6IP1
ARSA
ARSI
ASAH1
ATAD3A
ATL1
ATP7A
ATP7B
AUH
B4GALNT1
BCKDHA
BCKDHB
BICD2
BSCL2
BTD
C12orf65
C19orf12
CAPN1
CBS
CCT5
CDK16
CHMP2B
CLCN2
COASY
COL4A1
CPT1C
CTNNB1
CYP27A1
CYP2U1
CYP7B1
DARS
DARS2
DBT
DCTN1
DDC
DDHD1
DDHD2
DLD
DNAJB2
DSTYK
DYNC1H1
ELOVL4
ENTPD1
ERLIN1
ERLIN2
FA2H
FARS2
FBXO38
FIG4
FUS
FXN
GAD1
GALC
GAMT
GAN
GARS
GBA
GBA2
GBE1
GCDH
GCH1
GFAP
GJC2
GLB1
GLDC
GLRA1
GRID2
HACE1
HEXA
HPRT1
HSPB1
HSPB3
HSPB8
HSPD1
IBA57
IFIH1
IGHMBP2
ITPR1
KANK1
KCNC3
KDM5C
KIDINS220
KIF1A
KIF1C
KIF5A
KLC4
L1CAM
L2HGDH
LYST
MAG
MARS
MTHFR
MTPAP
NDUFV1
NIPA1
NKX6-2
NT5C2
OPA1
OPA3
OPTN
PAH
PANK2
PCCA
PCCB
PCDH12
PFN1
PGAP1
PLA2G6
PLEKHG5
PLP1
PNP
PNPLA6
POLG
PQBP1
PSEN1
RAB3GAP1
RAB3GAP2
RARS
REEP1
REEP2
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RTN2
SACS
SAMHD1
SCO2
SCP2
SERAC1
SETX
SIGMAR1
SIL1
SLC16A2
SLC25A15
SLC25A46
SLC2A1
SLC33A1
SLC5A7
SLC6A5
SOD1
SPART
SPAST
SPG11
SPG21
SPG7
SPR
SPTBN2
STUB1
SUOX
SURF1
TARDBP
TECPR2
TFG
TH
TK2
TREX1
TRPV4
TSEN54
TUBB4A
UBA1
UBQLN2
USP8
VAMP1
VAPB
VCP
VPS37A
VRK1
WASHC5
WDR45B
WDR48
ZEB2
ZFR
ZFYVE26
ZFYVE27
Migraines7 genes
Nom et numéro du panel : Migraines MDG-1212.00
Gènes inclus dans le panel :
ATP1A2
ATP1A3
CACNA1A
KCNK18
PRRT2
SCN1A
SLC1A3
Chorea21 genes
Nom et numéro du panel : Chorea MDG1218.00
Gènes inclus dans le panel :
ADCY5
ATP7B
C19orf12
CP
DCAF17
FTL
HPRT1
NKX2-1
NUP62
PANK2
PDE10A
PDE8B
PDGFRB
PLA2G6
PRNP
PRRT2
RNF216
SLC20A2
VAC14
VPS13A
XK
Dementia32 genes
Nom et numéro du panel : Dementia MDG-1215.00
Gènes inclus dans le panel :
APOE
APP
CHCHD10
CHMP2B
CSF1R
DCTN1
DNAJC5
DNMT1
EPM2A
FUS
GBA
GRN
HNRNPA1
HNRNPA2B1
HTRA1
ITM2B
MAPT
NHLRC1
NOTCH3
PRNP
PSEN1
PSEN2
SERPINI1
SIGMAR1
SORL1
SQSTM1
TARDBP
TBK1
TREM2
TYROBP
UBQLN2
VCP
Amyotrophic lateral sclerosis and fronto-temporal dementia42 genes
Nom et numéro du panel : Amyotrophic lateral sclerosis and fronto-temporal dementia MDG-1213.00
Gènes inclus dans le panel :
ALS2
ANG
APP
BSCL2
CHMP2B
CSF1R
DCTN1
DNAJC5
DNMT1
EPM2A
ERBB4
FIG4
FUS
GBE1
GRN
HEXA
HNRNPA1
ITM2B
MAPT
MATR3
NHLRC1
NOTCH3
NPC1
NPC2
OPTN
PFN1
PRNP
PSEN1
PSEN2
SETX
SIGMAR1
SLC52A2
SLC52A3
SMPD1
SOD1
SPART
TARDBP
TBK1
TYROBP
UBQLN2
VAPB
VCP
Episodic Ataxia and hemiplegia6 genes
Nom et numéro du panel : Episodic Ataxia and hemiplegia MDG-1217.00
Gènes inclus dans le panel :
ATP1A2
ATP1A3
CACNA1A
CACNB4
KCNA1
SLC1A3
Paroxysmal Dyskinesia6 genes
Nom et numéro du panel : Paroxysmal Dyskinesia MDG-1216.00
Gènes inclus dans le panel :
ADCY5
KCNMA1
PNKD
PRRT2
SCN8A
SLC2A1
Parkinsonism including syndromic64 genes
Nom et numéro du panel : Parkinsonism including syndromic MDG-1211.00
Gènes inclus dans le panel :
ANO3
ATP13A2
ATP1A3
ATP6AP2
ATP7B
C19orf12
CHCHD2
CHMP2B
CP
CSF1R
DCTN1
DNAJC6
EIF4G1
FA2H
FBXO7
FTL
FUS
GBA
GCH1
GIGYF2
GLB1
GNAL
GRN
HSPD1
HTRA2
IPPK
LRRK2
LYST
MAPT
NPC1
NPC2
OPA3
PANK2
PARK7
PDGFB
PDGFRB
PINK1
PLA2G6
POLG
PRKN
PRKRA
RAB39B
RTN2
SLC20A2
SLC30A10
SLC39A14
SLC41A1
SLC6A3
SNCA
SNCAIP
SNCB
SPG11
SPR
SYNJ1
TAF1
TARDBP
TH
TUBB4A
UCHL1
VCP
VPS13A
VPS35
WDR45
ZFYVE26
Dystonia104 genes
Nom et numéro du panel : Dystonia MDG-1210.00
Gènes inclus dans le panel :
ACTB
ADAR
ADCY5
ANO3
AP1S2
APTX
ARSA
ATM
ATP13A2
ATP1A2
ATP1A3
ATP7B
AUH
BCAP31
C19orf12
CACNA1A
CHMP2B
CIZ1
COASY
CP
CSTB
CYP27A1
DCAF17
DCTN1
DDC
DLAT
DRD2
DRD5
EARS2
ERCC6
FA2H
FASTKD2
FBXO7
FOXRED1
FTL
GAMT
GCDH
GCH1
GNAL
GNAO1
HPCA
HPRT1
HTRA2
KCNQ2
KCTD17
KMT2B
L2HGDH
MAT1A
MCOLN1
MECR
MMADHC
MPV17
MR1
MT-ND6
NDUFA12
NKX6-2
NPC2
PANK2
PCDH12
PDGFB
PDGFRB
PDHX
PINK1
PLA2G6
PLP1
PNKD
PNPT1
PRKN
PRKRA
PRRT2
PTS
QDPR
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
SCP2
SDHAF1
SERAC1
SGCE
SLC19A3
SLC20A2
SLC2A1
SLC30A10
SLC39A14
SLC46A1
SLC6A3
SPR
SUCLA2
SUOX
TAF1
TH
THAP1
TIMM8A
TOR1A
TOR1AIP1
TPK1
TREM2
TREX1
TUBB4A
VAC14
WDR45
WDR73
YY1
Aicardi-Goutières Syndrome7 genes
Nom et numéro du panel : Aicardi-Goutières Syndrome MDG-1220.00
Gènes inclus dans le panel :
ADAR
IFIH1
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
TREX1
Oncology
Pheochromocytoma/paraganglioma17 genes
Nom et numéro du panel : Pheochromocytoma/paraganglioma MDG-2110.01
Gènes inclus dans le panel :
DLST
EGLN1
EGLN2
EPAS1
FH
IDH1
KIF1B
MAX
NF1
RET
SDHA
SDHAF2
SDHB
SDHC
SDHD
TMEM127
VHL
Skin Tumors Susceptibility30 genes
Nom et numéro du panel : Skin Tumors Susceptibility MDG-1902.00
Gènes inclus dans le panel :
AKT1
BAP1
BRCA1
BRCA2
CDK4
CDKN2A
EPCAM
FLCN
KLLN
MC1R
MITF
MLH1
MSH2
MSH6
NF2
PIK3CA
PMS2
POT1
PTCH1
PTCH2
PTEN
RB1
SDHB
SDHD
SMARCB1
SUFU
TERT
TP53
TSC1
TSC2
Syndromes with tumor susceptibility124 genes
Nom et numéro du panel : Syndromes with tumor susceptibility MDG-1802.00
Gènes inclus dans le panel :
ABRAXAS1
AIP
AKT1
ALK
APC
ATM
ATR
AXIN2
BAP1
BARD1
BLM
BMPR1A
BRCA1
BRCA2
BRIP1
CCND1
CDC73
CDH1
CDK4
CDKN1B
CDKN1C
CDKN2A
CHEK2
CYLD
DDB2
DICER1
DIS3L2
EPCAM
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FH
FLCN
GREM1
HNF1A
HNF1B
HOXB13
HRAS
IL1B
IL1RN
KIT
LIG4
LZTR1
MAD2L2
MAX
MC1R
MEN1
MET
MITF
MLH1
MRE11
MSH2
MSH3
MSH6
MUTYH
NBN
NF1
NF2
NTHL1
PALB2
PALLD
PIK3CA
PMS2
POLD1
POLE
POLH
POT1
PRKAR1A
PRSS1
PTCH1
PTEN
RAD50
RAD51
RAD51C
RAD51D
RASAL1
RB1
RECQL4
RET
RHBDF2
RINT1
RNF43
RPS20
SCG5
SDHA
SDHAF2
SDHB
SDHC
SDHD
SEC23B
SLX4
SMAD4
SMARCA4
SMARCB1
SMARCE1
SPINK1
SPRED1
SRGAP1
STK11
SUFU
TMEM127
TP53
TSC1
TSC2
UBE2T
VHL
WRN
WT1
XPA
XPC
XRCC2
YAP1
Haematological Malignancies Susceptibility89 genes
Nom et numéro du panel : Haematological Malignancies Susceptibility MDG-1806.00
Gènes inclus dans le panel :
ACD
ANKRD26
ATM
BLM
BRCA1
BRCA2
BRIP1
CBL
CEBPA
CTC1
DDX41
DKC1
DOCK8
ELANE
ERCC4
ETV6
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAS
GATA1
GATA2
GBA
HAX1
ITK
LIG4
MAD2L2
MLH1
MSH2
MSH6
NAF1
NBN
NF1
NHP2
NOP10
PALB2
PARN
PAX5
PMS2
PRF1
PTPN11
RAD51
RAD51C
RMRP
RPL11
RPL15
RPL23
RPL26
RPL27
RPL31
RPL35A
RPL36
RPL5
RPS10
RPS15
RPS17
RPS19
RPS24
RPS26
RPS27
RPS27A
RPS28
RPS29
RPS7
RTEL1
RUNX1
SAMD9L
SBDS
SH2B3
SH2D1A
SLX4
STAT3
STN1
TERC
TERT
TINF2
TP53
TSR2
UBE2T
WAS
WRAP53
XRCC2
Ophthalmology
Ophtalmologic diseases392 genes
Nom et numéro du panel : Ophtalmologic diseases MDG-1101.01
Gènes inclus dans le panel :
ABCA4
ABCB6
ABCC6
ABHD12
ACBD5
ACO2
ADAM9
ADAMTS18
ADGRA3
ADGRV1
ADIPOR1
AFG3L2
AGBL5
AGK
AHI1
AIPL1
ALDH1A3
ALDH6A1
ALMS1
AP3B1
ARHGEF18
ARL13B
ARL2BP
ARL3
ARL6
ASRGL1
ATF6
ATXN7
B9D1
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCOR
BEST1
BFSP1
BFSP2
BLOC1S3
BLOC1S6
BMP4
C12orf57
C12orf65
C1QTNF5
C8orf37
CA4
CABP4
CACNA1F
CACNA2D4
CAPN5
CC2D2A
CCDC28B
CCT2
CDH23
CDH3
CDHR1
CEP104
CEP164
CEP250
CEP290
CEP41
CERKL
CFAP410
CFH
CHD7
CHM
CHMP4B
CIB2
CISD2
CLN3
CLRN1
CLUAP1
CNGA1
CNGA3
CNGB1
CNGB3
CNKSR1
CNNM4
COL11A1
COL11A2
COL2A1
COL9A1
COL9A2
CPLANE1
CRB1
CRX
CRYAA
CRYAB
CRYBA1
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGA
CRYGB
CRYGC
CRYGD
CRYGS
CSPP1
CTDP1
CTNNA1
CYP1B1
CYP4V2
DHDDS
DHX38
DMD
DRAM2
DSC3
DTHD1
DTNBP1
EFEMP1
ELOVL4
EMC1
EPHA2
EXOSC2
EYA1
EYS
FAM126A
FAM161A
FGFR2
FLVCR1
FOXC1
FOXE3
FREM1
FSCN2
FTL
FYCO1
FZD4
GALK1
GCNT2
GDF3
GDF6
GJA3
GJA8
GNAT1
GNAT2
GNB3
GNPTG
GPR143
GPR179
GRK1
GRM6
GUCA1A
GUCA1B
GUCY2D
HARS
HCCS
HESX1
HGSNAT
HK1
HMCN1
HMGB3
HMX1
HPS1
HPS3
HPS4
HPS5
HPS6
HSF4
IDH3B
IFT140
IFT172
IFT27
IFT81
IMPDH1
IMPG1
IMPG2
INPP5E
INVS
IPO13
IQCB1
ITM2B
JAG1
KCNJ13
KCNV2
KIAA0556
KIAA0586
KIAA1549
KIF11
KIF7
KIZ
KLHL7
KMT2D
LAMA1
LAMB2
LCA5
LIM2
LRAT
LRIT3
LRMDA
LRP5
LSS
LYST
LZTFL1
MAB21L2
MAF
MAK
MAPKAPK3
MC1R
MERTK
MFN2
MFRP
MFSD8
MIP
MIR204
MKKS
MKS1
MTTP
MVK
MYO10
MYO7A
NAA10
NBAS
NDP
NEK2
NEUROD1
NHS
NMNAT1
NPHP1
NPHP3
NPHP4
NR2E3
NR2F1
NRL
NYX
OAT
OCA2
OCRL
OFD1
OPA1
OPA3
OPN1LW
OPN1MW
OPN1SW
OTX2
P3H2
PANK2
PAX2
PAX6
PCARE
PCDH15
PCYT1A
PDE6A
PDE6B
PDE6C
PDE6D
PDE6G
PDE6H
PDZD7
PEX1
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGK1
PHYH
PITPNM3
PITX2
PITX3
PLA2G5
PLK4
PNPLA6
POC1B
POMGNT1
PRCD
PRDM13
PROKR2
PROM1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
PRPS1
PRSS56
PXDN
RAB28
RAB3GAP1
RAB3GAP2
RARB
RAX
RAX2
RB1
RBP3
RBP4
RCBTB1
RD3
RDH11
RDH12
RDH5
REEP6
RGR
RGS9
RGS9BP
RHO
RIMS1
RLBP1
RNF13
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
RPGRIP1
RPGRIP1L
RS1
RTN4IP1
SAG
SALL4
SAMD11
SCLT1
SDCCAG8
SEMA4A
SHH
SIL1
SIPA1L3
SIX6
SLC16A12
SLC18A2
SLC24A1
SLC24A5
SLC25A46
SLC45A2
SLC7A14
SMOC1
SNRNP200
SOX2
SOX3
SPATA7
SPG7
SPP2
STRA6
TAX1BP3
TBC1D32
TCTN1
TCTN2
TCTN3
TDRD7
TEAD1
TENM3
TIMM8A
TIMP3
TMEM126A
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TOPORS
TRAF3IP1
TREX1
TRIM32
TRNT1
TRPM1
TSPAN12
TTC21B
TTC8
TTLL5
TTPA
TUB
TUBGCP4
TUBGCP6
TULP1
TYR
TYRP1
UNC119
USH1C
USH1G
USH2A
VAX1
VAX2
VCAN
VIM
VPS13B
VSX2
WDPCP
WDR19
WFS1
WHRN
ZNF219
ZNF408
ZNF423
ZNF513
Microphthalmia71 genes
Nom et numéro du panel : Microphthalmia MDG-1106.01
Gènes inclus dans le panel :
ABCB6
ALDH1A3
ALDH6A1
BCOR
BMP4
BMP7
C12orf57
CHD7
CNKSR1
COX7B
CRYAA
CRYBA4
DSC3
ERCC1
ERCC2
ERCC5
ERCC6
FOXE3
FOXL2
FRAS1
FREM1
FREM2
GDF3
GDF6
GJA1
GRIP1
HCCS
HESX1
HMGB3
HMX1
IPO13
KMT2D
LAMB2
MAB21L2
MARK3
MFRP
MITF
MYO10
NAA10
NDP
NDUFB11
OCRL
OTX2
PAX2
PAX6
PITX3
PRSS56
PXDN
RAB18
RAB3GAP1
RAB3GAP2
RARB
RAX
RBP4
SALL1
SALL2
SCLT1
SHH
SIX3
SIX6
SLC18A2
SMOC1
SOX2
STRA6
TBC1D20
TBC1D32
TENM3
TFAP2A
VAX1
VSX2
ZNF219
Retinitis Pigmentosa110 genes
Nom et numéro du panel : Retinitis Pigmentosa MDG-1102.00
Gènes inclus dans le panel :
ABCA4
ADGRA3
ADIPOR1
AGBL5
AHI1
AIPL1
ARHGEF18
ARL2BP
ARL3
ARL6
BBS1
BBS2
BEST1
C2orf71
C8orf37
CA4
CDHR1
CERKL
CLRN1
CNGA1
CNGB1
CRB1
CRX
CYP4V2
DHDDS
DHX38
EMC1
EYS
FAM161A
FLVCR1
FSCN2
GNPTG
GUCA1B
HGSNAT
HK1
IDH3B
IFT140
IFT172
IMPDH1
IMPG2
KIAA1549
KIZ
KLHL7
LRAT
MAK
MERTK
MT-ATP6
MT-CO3
MT-ND1
MT-ND2
MT-ND3
MT-ND4
MT-ND5
MT-ND6
MT-TI
MT-TK
MT-TL1
MT-TL2
MT-TV
MT-TW
MVK
NEK2
NEUROD1
NMNAT1
NR2E3
NRL
OFD1
PDE6A
PDE6B
PDE6G
POMGNT1
PRCD
PROM1
PRPF3
PRPF31
PRPF4
PRPF6
PRPF8
PRPH2
RBP3
RBP4
RDH11
RDH12
REEP6
RGR
RHO
RLBP1
ROM1
RP1
RP1L1
RP2
RP9
RPE65
RPGR
SAG
SAMD11
SCAPER
SEMA4A
SLC7A14
SNRNP200
SPATA7
SPP2
TOPORS
TRNT1
TTC8
TUB
TULP1
USH2A
ZNF408
ZNF513
Cataract130 genes
Nom et numéro du panel : Cataract MDG-1103.00
Gènes inclus dans le panel :
ABCA3
ADAMTSL4
AGK
AKR1E2
ALDH18A1
BCOR
BEST1
BFSP1
BFSP2
CAV1
CHMP4B
COL11A1
COL18A1
COL2A1
COL4A1
COL4A2
COL4A5
CRYAA
CRYAB
CRYBA1
CRYBA2
CRYBA4
CRYBB1
CRYBB2
CRYBB3
CRYGA
CRYGB
CRYGC
CRYGD
CRYGS
CTDP1
CYP27A1
CYP51A1
DOCK6
ENTPD1
EPG5
EPHA2
ETFA
ETFB
ETFDH
EYA1
FAM111A
FAM126A
FOXC1
FOXE3
FTL
FYCO1
FZD4
GALK1
GCNT2
GDNF
GFER
GJA1
GJA3
GJA8
HMX1
HSF4
IARS2
JAM3
KCTD1
KIF1B
KLHDC8B
LEMD2
LIM2
LMNA
LONP1
LSS
MAF
MAP2K2
MAX
MIP
MIR184
MIR204
MSMO1
MT-CO3
MT-CYB
MT-ND1
MT-ND4
MT-ND5
MT-ND6
MT-TL1
MT-TS1
MT-TS2
MYH9
NDP
NF2
NHS
OCRL
OPA3
P3H2
PAX6
PEX11B
PEX5
PEX7
PHGDH
PIGY
PITX2
PITX3
POMT1
PTGS1
PTGS2
PXDN
RAB18
RAB3GAP1
RAB3GAP2
RECQL4
RET
RGS6
RNLS
RRAGA
SC5D
SDHB
SDHD
SIL1
SIPA1L3
SIX6
SLC16A12
SLC33A1
TBC1D20
TDRD7
TFAP2A
TMEM127
TMEM70
UNC45B
VHL
VIM
VSX2
WDR87
WFS1
WRN
Glaucoma42 genes
Nom et numéro du panel : Glaucoma MDG-1104.00
Gènes inclus dans le panel :
ACVR1
ADAMTS10
ASB10
BEST1
BMP4
CANT1
COL18A1
COL4A1
COL8A2
CREBBP
CYP1B1
FBN1
FOXC1
FOXE3
GJA1
ISPD
LMX1B
LOXL1
LTBP2
MAF
MYOC
NTF4
OPA1
OPA3
OPTC
OPTN
PAX6
PIK3R1
PITX2
PITX3
POMT1
PRSS56
PXDN
RPS19
RRM2B
SBF2
SH3PXD2B
SIX6
TBK1
TMEM126A
TTR
WDR36
Oculocutaneous Albinism19 genes
Nom et numéro du panel : Oculocutaneous Albinism MDG-1109.00
Gènes inclus dans le panel :
AP3B1
AP3D1
BLOC1S3
BLOC1S6
DTNBP1
GPR143
HPS1
HPS3
HPS4
HPS5
HPS6
LRMDA
LYST
OCA2
SLC24A5
SLC38A8
SLC45A2
TYR
TYRP1
Leber Congenital Amaurosis28 genes
Nom et numéro du panel : Leber Congenital Amaurosis MDG-1108.00
Gènes inclus dans le panel :
AIPL1
BBS4
CABP4
CCT2
CEP290
CLUAP1
CRB1
CRX
DTHD1
GDF6
GUCY2D
IFT140
IMPDH1
IQCB1
KCNJ13
LCA5
LRAT
MERTK
NMNAT1
OTX2
PRPH2
RD3
RDH12
RDH5
RPE65
RPGRIP1
SPATA7
TULP1
Bardet-Biedl Symptom29 genes
Nom et numéro du panel : Bardet-Biedl Symptom MDG-1105.00
Gènes inclus dans le panel :
ADIPOR1
ALMS1
ARL6
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
C8orf37
CCDC28B
CEP290
IFT172
IFT27
INPP5E
KCNJ13
LZTFL1
MKKS
MKS1
NPHP1
SDCCAG8
TMEM67
TRIM32
TTC21B
TTC8
WDPCP
Macular Degeneration36 genes
Nom et numéro du panel : Macular Degeneration MDG-1107.00
Gènes inclus dans le panel :
ABCA4
ARMS2
BEST1
BEST2
BEST3
BEST4
C1QTNF5
CDH3
CFH
CLN3
CNGB3
CRB1
CRX
CST3
CTNNA1
DRAM2
EFEMP1
ELOVL4
FBLN5
FBN2
FSCN2
GUCA1B
HMCN1
IMPG1
IMPG2
MFSD8
OTX2
PRDM13
PROM1
PRPH2
RAX2
RDH12
RP1L1
RPGR
TIMP3
TTLL5
Otorhinolaryngology (ENT)
Deafness186 genes
Nom et numéro du panel : Deafness MDG-1301.01
Gènes inclus dans le panel :
ABHD12
ACTG1
ADCY1
ADGRV1
AIFM1
ALMS1
ANKH
ATP2B2
ATP6V1B1
BCAP31
BCS1L
BDP1
BSND
CABP2
CACNA1D
CATSPER2
CCDC50
CD151
CD164
CDC14A
CDH23
CDKN1C
CEACAM16
CHD7
CHSY1
CIB2
CISD2
CLDN14
CLIC5
CLPP
CLRN1
COCH
COL11A1
COL11A2
COL2A1
COL4A3
COL4A4
COL4A5
COL4A6
COL9A1
COL9A2
COL9A3
CRYL1
CRYM
DCDC2
DIABLO
DIAPH1
DIAPH3
DNMT1
DSPP
EDN3
EDNRB
EFTUD2
ELMOD3
EPS8
EPS8L2
ESPN
ESRRB
EXOSC2
EYA1
EYA4
FGF3
FOXI1
GATA3
GIPC3
GJB2
GJB3
GJB6
GPRASP2
GPSM2
GRHL2
GRXCR1
GRXCR2
GSDME
HARS
HARS2
HGF
HOMER2
HOXB1
HSD17B4
ILDR1
KARS
KCNE1
KCNJ10
KCNQ1
KCNQ4
KITLG
LARS2
LHFPL5
LOXHD1
LOXL3
LRTOMT
MAN2B1
MANBA
MARVELD2
MCM2
MET
MIR96
MITF
MSRB3
MT-RNR1
MT-TE
MT-TK
MT-TL1
MT-TS1
MYH14
MYH9
MYO15A
MYO1A
MYO3A
MYO6
MYO7A
NARS2
NDP
NLRP12
NLRP3
OPA1
OSBPL2
OTOA
OTOF
OTOG
OTOGL
P2RX2
PAX3
PBX1
PCDH15
PDZD7
PEX1
PEX6
PJVK
PNPT1
POLR1C
POLR1D
POU3F4
POU4F3
PRPS1
PTPRQ
RDX
RIPOR2
ROR1
S1PR2
SALL1
SALL4
SEMA3E
SERPINB6
SIX1
SIX5
SLC12A1
SLC17A8
SLC19A2
SLC22A4
SLC26A4
SLC26A5
SLITRK6
SMPX
SNAI2
SOX10
SPATA5
STRC
SYNE4
TBC1D24
TBX1
TCOF1
TECTA
TECTB
TFAP2A
TIMM8A
TJP2
TMC1
TMC2
TMEM132E
TMIE
TMPRSS3
TNC
TPRN
TRAF7
TRIOBP
TSPEAR
TWNK
TYR
USH1C
USH1G
USH2A
WBP2
WFS1
WHRN
Pediatrics / Developmental disorders
Noonan syndrome22 genes
Nom et numéro du panel : Noonan syndrome MDG-2215.00
Gènes inclus dans le panel :
A2ML1
ACTB
ACTG1
BRAF
CBL
HRAS
KRAS
LZTR1
MAP2K1
MAP2K2
NF1
NRAS
PPP1CB
PTPN11
RAF1
RASA1
RASA2
RIT1
SHOC2
SOS1
SOS2
SPRED1
Clefting175 genes
Nom et numéro du panel : Clefting MDG-2205.01
Gènes inclus dans le panel :
ACTB
ACTG1
ALX3
AMER1
ANKRD11
ARHGAP31
ASXL1
ATR
B3GALT6
B3GLCT
B4GALT7
BCOR
BUB1B
C2CD3
CC2D2A
CDC45
CDH1
CDKN1C
CHD7
CHRNG
CHST14
COL11A1
COL11A2
COL2A1
COL9A1
COL9A2
COLEC10
COLEC11
CPLANE1
CTCF
CTNND1
DDX3X
DDX59
DHCR7
DHODH
DLL4
DLX4
DOCK6
DVL1
DVL3
DYNC2H1
DYNC2LI1
EBP
EDNRA
EFNB1
EFTUD2
EIF2S3
EOGT
EPG5
ESCO2
EYA1
FAM20C
FGD1
FGFR1
FGFR2
FLNA
FLNB
FOXC2
FOXP2
FRAS1
FTO
GATA3
GJA1
GLI3
GNB1
GPC3
GRHL3
HDAC8
HYLS1
ICK
IFT140
IFT172
IFT52
IFT80
IMPAD1
IRF6
KAT6A
KCNJ2
KDM1A
KDM6A
KIAA0586
KIF1BP
KIF7
KMT2D
LMNA
MAP3K7
MAPRE2
MASP1
MBTPS2
MED13L
MED25
MEIS2
MEOX1
MID1
MKS1
MSX1
MYMK
NECTIN1
NEDD4L
NEK1
NIPBL
NOTCH1
OFD1
PAX3
PHF8
PHGDH
PIEZO2
PIGN
PIGV
POLR1C
POLR1D
PORCN
PTCH1
RARB
RBM10
RBPJ
ROR2
RPL5
RPS26
RPS28
RYR1
SALL4
SATB2
SCARF2
SEC23A
SEPTIN9
SF3B4
SHH
SIX1
SIX3
SIX5
SKI
SLC26A2
SMAD3
SMAD4
SMC1A
SMC3
SMG9
SMS
SNRPB
SON
SOX9
SPECC1L
STAMBP
TBX1
TBX15
TBX22
TCOF1
TCTN3
TELO2
TFAP2A
TGDS
TGFB3
TGFBR1
TGFBR2
TMCO1
TP63
TRAPPC9
TRIM37
TTC21B
TUBB
TXNL4A
USP9X
WDR19
WDR34
WDR35
WDR60
WNT5A
XYLT1
ZBTB24
ZEB2
ZIC2
ZIC3
ZMPSTE24
ZSWIM6
Cerebellar hypoplasia98 genes
Nom et numéro du panel : Cerebellar hypoplasia MDG-1230.00
Gènes inclus dans le panel :
ADGRG1
AKT3
AMPD2
ASPM
ATAD3A
ATP8A2
ATR
B3GALNT2
B4GAT1
CA8
CACNA1G
CASK
CDK5RAP2
CENPF
CENPJ
CEP152
CEP63
CHMP1A
CLP1
COASY
CREBBP
CRPPA
CWF19L1
DAG1
DCC
DKC1
DYNC1H1
DYRK1A
EFTUD2
EXOSC3
EXOSC9
FKRP
FKTN
GFM1
GMPPB
ITPR1
KANSL1
KATNB1
KCNC3
KIF11
LARGE1
LIG4
MACF1
MBD5
MCPH1
MFSD2A
MRE11
MYCN
NDE1
NHEJ1
OPHN1
PAFAH1B1
PCNT
PHGDH
PLK4
PNKP
POMGNT1
POMGNT2
POMT1
POMT2
PQBP1
PTF1A
RARS2
RELN
ROBO3
RTTN
RXYLT1
SEPSECS
SMPD4
SNX14
SPTAN1
SPTBN2
STAMBP
STIL
TERT
TINF2
TOE1
TSEN15
TSEN2
TSEN34
TSEN54
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBG1
TUBGCP4
TUBGCP6
VLDLR
VPS53
VRK1
WDR37
WDR62
WDR73
WDR81
XRCC4
Intrauterine Growth Restriction (IUGR)285 genes
Nom et numéro du panel : Intrauterine Growth Restriction (IUGR) MDG-2109.02
Gènes inclus dans le panel :
ACAN
ACP5
ACTB
ACTG1
ADAMTS10
ADAMTS17
ADAMTSL2
ADAMTSL4
ANKRD11
ARFGEF2
ARID1B
ASPM
ASXL1
ASXL3
ATR
ATRIP
ATRX
B3GALT6
B3GAT3
B4GALT7
BCS1L
BLM
BMP2
BMPR1B
BRAF
BTK
BUB1B
CANT1
CASK
CBL
CCDC8
CCN6
CDC45
CDC6
CDK5RAP2
CDK6
CDKL5
CDKN1C
CDT1
CENPE
CENPF
CENPJ
CEP135
CEP152
CEP63
CHD7
CHST14
CHST3
CHSY1
COL10A1
COL11A1
COL11A2
COL27A1
COL2A1
COL9A1
COL9A2
COL9A3
COMP
CREBBP
CRIPT
CTNNB1
CUL7
DDR2
DDX11
DHCR7
DIAPH1
DNA2
DNMT3A
DOK7
DSE
DVL1
DYM
DYRK1A
EFTUD2
EIF2AK3
EP300
EPHX1
ERCC2
ERCC3
ERCC5
ERCC6
ERCC8
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FBN1
FGD1
FGF8
FGFR1
FGFR3
FKBP14
FLNA
FLNB
FOXG1
GDF5
GH1
GHR
GHRH
GHRHR
GHSR
GLI2
GLI3
GNAS
GPC4
GPC6
GPR161
GPX4
H19
HDAC8
HESX1
HOXD13
HRAS
HSPG2
IER3IP1
IFT172
IGF1
IGF1R
IGF2
IGFALS
IGSF1
IHH
IMPAD1
INPPL1
INSR
IRS1
KATNB1
KDM6A
KIF11
KIF1BP
KIF22
KMT2A
KMT2D
KNL1
KRAS
LARP7
LEMD2
LHX3
LHX4
LIFR
LIG1
LIG4
LONP1
LTBP2
LTBP3
LZTR1
MAP2K1
MAP2K2
MAP3K7
MATN3
MCM5
MCM9
MCPH1
MECP2
MED17
MFSD2A
MMP13
MMP9
MYCN
NBAS
NBN
NDE1
NHEJ1
NIN
NIPBL
NKX3-2
NOG
NOTCH2
NPR2
NRAS
OBSL1
ORC1
ORC4
ORC6
OTX2
PAM16
PAPPA2
PAPSS2
PCNT
PCYT1A
PDE4D
PGM3
PHC1
PIK3R1
PITX2
PLK4
PLOD1
PNKP
PNPLA6
POC1A
POU1F1
PQBP1
PRKAR1A
PROKR2
PROP1
PTH1R
PTHLH
PTPN11
PYCR2
QARS
RAB18
RAB33B
RAB3GAP1
RAB3GAP2
RAD21
RAD50
RAF1
RAPSN
RASA2
RBBP8
RIT1
RMRP
RNF13
RNPC3
RNU4ATAC
ROR2
RPL10
RPS6KA3
RRAS
RSPRY1
RTTN
RUNX2
SAMD9
SASS6
SBDS
SH3PXD2B
SHOC2
SHOX
SHOX2
SLC25A19
SLC26A2
SLC2A1
SLC35D1
SLC39A13
SLC9A6
SMAD4
SMARCAL1
SMC1A
SMC3
SOS1
SOS2
SOX2
SOX3
SOX9
SRCAP
STAMBP
STAT5B
STIL
TAF6
TBC1D20
TBCE
TBX19
TBX3
TCF4
TGDS
THRB
TRAPPC2
TRAPPC9
TRIM37
TRIP11
TRMT10A
TRPS1
TRPV4
TSEN2
TSEN34
TSEN54
TUBGCP4
TUBGCP6
UBE3A
WDR62
WNK3
WNT5A
WRN
WWOX
XRCC4
XYLT1
ZEB2
ZFP57
ZNF335
Oligodontia15 genes
Nom et numéro du panel : Oligodontia MDG-2501.00
Gènes inclus dans le panel :
AXIN2
EDA
EDAR
EDARADD
GJB6
IKBKG
LRP6
LTBP3
MSX1
NFKBIA
PAX9
PTH1R
TP63
WNT10A
WNT10B
Primary ciliary dyskinesia36 genes
Nom et numéro du panel : Primary ciliary dyskinesia MDG-2214.00
Gènes inclus dans le panel :
ARMC4
CCDC103
CCDC114
CCDC151
CCDC39
CCDC40
CCDC65
CCNO
CFAP298
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH1
DNAH11
DNAH5
DNAI1
DNAI2
DNAJB13
DNAL1
DRC1
GAS8
HYDIN
LRRC6
MCIDAS
NME8
OFD1
PIH1D3
RPGR
RSPH1
RSPH3
RSPH4A
RSPH9
SPAG1
ZMYND10
Arthrogryposis337 genes
Nom et numéro du panel : Arthrogryposis MDG-2213.00
Gènes inclus dans le panel :
AARS
ABHD5
ACAD9
ACADM
ACADS
ACADVL
ACTA1
ADAMTS10
ADCY6
ADGRG6
ADSL
AGL
AGRN
AIMP1
ALDOA
ALG14
ALG2
ALS2
AMPD1
ANO5
ANTXR2
ANXA3
AR
ASAH1
ASCC1
ASXL1
ATP2A1
ATP7A
B3GALNT2
B4GAT1
BAG3
BICD2
BIN1
BSCL2
BVES
CACNA1S
CAPN3
CASK
CASQ1
CAV3
CCDC78
CFL2
CHAT
CHCHD10
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST14
CHUK
CLCF1
CNBP
CNTN1
CNTNAP1
COASY
COL12A1
COL13A1
COL4A1
COL4A2
COL6A1
COL6A2
COL6A3
COL9A3
COLQ
CPT1B
CPT2
CRLF1
CRPPA
CRYAB
CTDP1
CUL4B
CYP2C8
DAG1
DCTN1
DES
DHCR24
DMD
DMPK
DNAJB2
DNAJB6
DNM2
DOK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DUX4
DYNC1H1
DYSF
ECEL1
EGR2
EMD
ENO3
EPG5
ERBB3
ERCC5
ERCC6
ERCC8
ETFA
ETFB
ETFDH
EXOSC3
EXOSC8
FAM111B
FAM20C
FBN2
FBP2
FBXO38
FGFR2
FGFR3
FHL1
FKBP10
FKBP14
FKRP
FKTN
FLNB
FLNC
FLVCR2
GAA
GARS
GBA
GBE1
GDAP1
GFER
GFPT1
GLDN
GLE1
GMPPB
GNE
GRN
GYG1
GYS1
HACD1
HADH
HADHA
HADHB
HNRNPA1
HNRNPDL
HRAS
HSPB1
HSPB3
HSPB8
HSPG2
HTRA2
IBA57
IGHMBP2
INPP5K
IRF6
ISCU
ITGA7
KAT6B
KBTBD13
KIAA1109
KLHL40
KLHL41
KLHL7
KLHL9
KY
LAMA2
LAMB2
LAMP2
LARGE1
LDB3
LDHA
LGI4
LIMS2
LMNA
LMOD3
LPIN1
LRP4
MAP3K20
MATR3
MEG3
MEGF10
MFN2
MICU1
MPZ
MT-TL1
MTM1
MTMR1
MTMR14
MUSK
MYBPC1
MYBPC3
MYF6
MYH14
MYH2
MYH3
MYH7
MYH8
MYL1
MYMK
MYO18B
MYO9A
MYOT
MYPN
NALCN
NEB
NEFL
NEK9
OBSCN
ORAI1
PABPN1
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PGAM2
PGK1
PGM1
PHKA1
PHKB
PHKG1
PI4KA
PIEZO2
PIP5K1C
PLEC
PLEKHG5
PLOD1
PLOD2
PMM2
PNPLA2
POLG
POLG2
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POR
PREPL
PRG4
PRKAG2
PSD3
PUS1
PYGM
RAPSN
RBCK1
REEP1
RIPK4
RRM2B
RXYLT1
RYR1
SCARF2
SCN4A
SCO2
SELENON
SETX
SGCA
SGCB
SGCD
SGCG
SIGMAR1
SIL1
SKI
SLC18A3
SLC22A12
SLC22A5
SLC25A4
SLC25A42
SLC2A9
SLC35A3
SLC52A1
SLC52A2
SLC52A3
SLC5A7
SMAD3
SMAD4
SMCHD1
SMN1
SMN2
SMPD4
SNAP25
SNRPN
SPEG
SPG11
SPTBN4
SQSTM1
STAC3
STIM1
STIM2
SUCLA2
SYNE1
SYNE2
SYT2
TCAP
TGFB2
TGFB3
TGFBR1
TGFBR2
TIA1
TK2
TMEM43
TNNI2
TNNT1
TNNT3
TPM2
TPM3
TRAPPC11
TRIM32
TRIP4
TRPV4
TSEN2
TSEN34
TSEN54
TSFM
TTN
TYMP
UBA1
UBQLN1
UTRN
VAMP1
VAPB
VCP
VIPAS39
VMA21
VPS33B
VPS8
VRK1
YARS2
ZBTB42
ZC4H2
ZMPSTE24
Heterotaxis and situs inversus32 genes
Nom et numéro du panel : Heterotaxis and situs inversuss MDG-2212.00
Gènes inclus dans le panel :
ACVR2B
ANKS6
ARMC4
CCDC103
CCDC114
CCDC151
CCDC39
CCDC40
CFAP298
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH11
DNAH5
DNAI1
DNAI2
DNAL1
FOXH1
GDF1
INVS
LEFTY2
LRRC6
MMP21
NODAL
PIH1D3
PKD1L1
SPAG1
TTC25
ZIC3
ZMYND10
Syndactyly and brachydactyly34 genes
Nom et numéro du panel : Syndactyly and brachydactyly MDG-2211.02
Gènes inclus dans le panel :
BMP2
BMPR1B
CACNA1C
CCNQ
CHSY1
DHCR7
ESCO2
FBLN1
FGF16
FGFR1
FGFR2
FMN1
GDF5
GJA1
GLI3
GNAS
GREM1
HOXA13
HOXD13
IHH
LMBR1
LSS
MYCN
NOG
PDE4D
PTDSS1
PTHLH
RAB23
RECQL4
ROR2
SHH
SOX9
TP63
TWIST1
Microcephaly147 genes
Nom et numéro du panel : Microcephaly MDG-2206.02
Gènes inclus dans le panel :
AGMO
AKT3
ANKLE2
AP4M1
ARFGEF2
ASPM
ASXL3
ATR
ATRIP
ATRX
BLM
BRCA2
BRIP1
CARS
CASK
CDC6
CDK5RAP2
CDK6
CDKL5
CDT1
CENPE
CENPF
CENPJ
CEP135
CEP152
CEP63
CHMP1A
CIT
CKAP2L
CREBBP
CRIPT
CTNNB1
DDX11
DHCR7
DIAPH1
DNA2
DONSON
DPP6
DYRK1A
EFTUD2
EOMES
ERCC4
ERCC5
ERCC6
ERCC8
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FOXG1
GMNN
GPC4
HDAC8
IARS
IER3IP1
IGF1
IGF1R
KATNB1
KIF11
KIF1BP
KNL1
LARP7
LIG4
MCPH1
MECP2
MED17
MFSD2A
MRE11
MSMO1
MYCN
NBN
NDE1
NHEJ1
NIN
NIPBL
NSMCE2
ORC1
ORC4
ORC6
PALB2
PCNT
PDHA1
PHC1
PLAA
PLK4
PNKP
POC1A
POLA1
PPP1R15B
PQBP1
PRUNE1
PUS7
PYCR2
QARS
RAB18
RAB3GAP1
RAB3GAP2
RAD21
RAD50
RAD51C
RBBP8
RNF13
RNU4ATAC
RPL10
RTTN
SASS6
SLC25A19
SLC2A1
SLC9A6
SLX4
SMC1A
SMC3
STAMBP
STIL
SVBP
TAF13
TBC1D20
TCF4
TLE1
TRAIP
TRAPPC9
TRMT10A
TSEN2
TSEN34
TSEN54
TUBB2B
TUBB3
TUBGCP3
TUBGCP4
TUBGCP6
UBE3A
WDFY3
WDR4
WDR62
WDR73
WNK3
WWOX
XRCC4
ZEB2
ZMIZ1
ZNF335
Skeletal Dysplasia274 genes
Nom et numéro du panel : Skeletal Dysplasia MDG-1401.01
Gènes inclus dans le panel :
ACAN
ACP5
ADAMTSL2
AGPS
ALPL
ALX4
AMER1
ANKH
ANO5
AP2S1
ARHGAP31
ARSE
ATP6V0A2
ATR
B3GALT6
B3GAT3
B4GALT7
BHLHA9
BMP1
BMP2
BMPER
BMPR1B
CA2
CANT1
CASR
CC2D2A
CCDC8
CCN6
CCNQ
CDC6
CDH3
CDKN1C
CDT1
CENPJ
CEP120
CEP152
CEP290
CEP63
CHST14
CHST3
CHSY1
CLCN5
CLCN7
COG4
COL10A1
COL11A1
COL11A2
COL1A1
COL1A2
COL2A1
COL9A1
COL9A2
COL9A3
COMP
CREBBP
CRTAP
CSF1R
CSPP1
CTSK
CUL7
CYP24A1
CYP27B1
CYP2R1
DDR2
DHCR24
DHCR7
DLL3
DLX3
DMP1
DNA2
DYM
DYNC2H1
EBP
EFNB1
EIF2AK3
ENPP1
EP300
ERF
ESCO2
EVC
EVC2
EXT1
EXT2
FAM111A
FAM20C
FBLN1
FBN1
FBXW4
FERMT3
FGF10
FGF16
FGF23
FGF9
FGFR1
FGFR2
FGFR3
FKBP10
FLNA
FLNB
FREM1
GALNT3
GCM2
GDF3
GDF5
GDF6
GJA1
GLI3
GNA11
GNAS
GNPAT
GORAB
GPC4
GPC6
GSC
HDAC4
HES7
HOXA11
HOXD13
HPGD
HSPG2
ICK
IFITM5
IFT122
IFT140
IFT172
IFT43
IFT80
IHH
IL11RA
IMPAD1
INPPL1
KIAA0586
KIF22
KIF7
LARP7
LBR
LEMD3
LFNG
LIFR
LMBR1
LMNA
LMX1B
LRP4
LRP5
LSS
MAFB
MASP1
MATN3
MEGF8
MEOX1
MESP2
MGP
MKS1
MMP13
MMP2
MMP9
MSX2
MTAP
MYCN
NEK1
NIN
NIPBL
NKX3-2
NOG
NOTCH2
NPR2
NSDHL
OBSL1
OFD1
ORC1
ORC4
ORC6
OSTM1
P3H1
PAPSS2
PCNT
PCYT1A
PDE4D
PEX7
PHEX
PIGV
PITX1
PLEKHM1
PLOD2
PLS3
POC1A
POLE
POP1
POR
PPIB
PRKAR1A
PTDSS1
PTH
PTH1R
PTHLH
PTPN11
PYCR1
RAB23
RAB33B
RASGRP2
RBBP8
RBM8A
RECQL4
RMRP
RNU4ATAC
ROR2
RPGRIP1L
RUNX2
SALL1
SALL4
SBDS
SERPINF1
SERPINH1
SF3B4
SH3PXD2B
SHH
SHOX
SKI
SLC25A12
SLC26A2
SLC34A1
SLC34A3
SLC35D1
SLC39A13
SLC9A3R1
SLCO2A1
SLCO5A1
SMARCAL1
SNX10
SOST
SOX9
SP7
SULF1
TBCE
TBX15
TBX3
TBX5
TBX6
TBXAS1
TCF12
TCIRG1
TCOF1
TCTN3
TGFB1
THPO
TMEM216
TMEM38B
TMEM67
TNFRSF11A
TNFRSF11B
TNFSF11
TONSL
TP63
TRAPPC2
TREM2
TRIP11
TRPS1
TRPV4
TTC21B
TWIST1
TYROBP
VDR
WDR19
WDR34
WDR35
WDR60
WNT1
WNT10B
WNT3
WNT5A
WNT7A
XYLT1
ZMPSTE24
ZSWIM6
Limb reduction defects76 genes
Nom et numéro du panel : Limb reduction defects MDG-2210.01
Gènes inclus dans le panel :
ADAMTSL2
ALPL
ARHGAP31
ATR
BHLHA9
BMP2
BMPR1B
BRCA2
BRIP1
DHODH
DLL4
DLX5
DOCK6
EIF4A3
EOGT
ERCC4
ESCO2
EVC
EVC2
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FBLN1
FGF10
FGF16
FGFR2
FGFR3
GDF5
GJA1
GLI3
HDAC8
HOXA11
HOXD13
IHH
LMBR1
LRP4
MMP13
NIPBL
NOG
NOTCH1
NSDHL
PALB2
PAX3
PTHLH
RAD21
RAD51C
RBM8A
RBPJ
RECQL4
ROR2
RPL11
RPS19
RUNX2
SALL1
SALL4
SF3B4
SHH
SLX4
SMC1A
SMC3
TBX3
TBX5
TP63
TRPV4
UBE2T
WNT10B
WNT3
WNT7A
XRCC2
Renal tubular acidosis9 genes
Nom et numéro du panel : Renal tubular acidosis MDG-1608.00
Gènes inclus dans le panel :
ATP6V0A4
ATP6V1B1
BCS1L
CA2
OCRL
SLC4A1
SLC4A4
VIPAS39
VPS33B
RASopathies29 genes
Nom et numéro du panel : RASopathies MDG-2207.00
Gènes inclus dans le panel :
A2ML1
ACTB
ACTG1
AKT3
BRAF
CBL
CCND2
HRAS
KAT6B
KRAS
LZTR1
MAP2K1
MAP2K2
NF1
NRAS
PIK3CA
PIK3R2
PPP1CB
PTPN11
RAF1
RASA1
RASA2
RIT1
RRAS
SHOC2
SOS1
SOS2
SPRED1
STAMBP
Congenital Anomalies473 genes
Nom et numéro du panel : Congenital Anomalies MDG-2203.00
Gènes inclus dans le panel :
A2ML1
ACTB
ACTG1
AGMO
AHCY
AKR1B1
ALG1
ALG9
ALX3
AMER1
ANKLE2
ANKRD11
ANTXR1
AP1S1
AP3B1
ARCN1
ARHGAP29
ARHGAP31
ASAH1
ASPM
ASXL1
ATR
ATRIP
ATRX
B3GALT6
B3GAT3
B3GLCT
B4GALT7
BCOR
BLM
BMP2
BMP4
BMPR1B
BRAF
BRCA2
BRIP1
BUB1B
C2CD3
CANT1
CASK
CBL
CC2D2A
CCBE1
CDC45
CDC6
CDH3
CDK5RAP2
CDK6
CDKN1C
CDT1
CENPE
CENPF
CENPJ
CEP135
CEP152
CEP290
CEP63
CHD1
CHD4
CHD7
CHRNG
CHST14
CHSY1
CIT
CKAP2L
COL11A1
COL11A2
COL2A1
COL9A1
COL9A2
COLEC10
COLEC11
CPLANE1
CREBBP
CRIPT
CTCF
CTDP1
CTNNB1
CTNND1
CTSA
DACT1
DDB1
DDB2
DDX11
DDX3X
DDX59
DHCR7
DHODH
DIAPH1
DIS3L2
DLG1
DLL4
DLX4
DMPK
DNA2
DNMT3B
DOCK6
DONSON
DPP6
DUSP5
DVL1
DYNC2H1
DYNC2LI1
DYRK1A
EBP
EDNRA
EFNB1
EFTUD2
EIF2S3
EOGT
EOMES
EPG5
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ESCO2
EYA1
FAM111A
FAM20C
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FBLN1
FBXW4
FGD1
FGF10
FGFR1
FGFR2
FGFR3
FH
FIG4
FLNA
FLNB
FLT4
FMN1
FOXC2
FOXP2
FOXP3
FRAS1
FREM2
FTO
GALNS
GATA3
GATA6
GBA
GBE1
GDF1
GDF5
GJA1
GLA
GLB1
GLE1
GLI3
GMNN
GNAS
GNB1
GNPTAB
GPC3
GREM1
GRHL3
GRIP1
GTF2E2
GTF2H5
GUSB
GYPE
HAAO
HADHA
HBA1
HBA2
HBZ
HDAC4
HDAC8
HOXA13
HOXA2
HOXD13
HRAS
HYLS1
IARS
ICK
IDUA
IER3IP1
IFT140
IFT172
IFT52
IFT80
IGF1
IGF1R
IHH
IMPAD1
IRF6
KANSL1
KAT6A
KAT6B
KCNH1
KCNJ2
KDM1A
KDM6A
KDR
KIAA0586
KIF11
KIF1BP
KIF22
KIF7
KLF1
KMT2D
KNL1
KRAS
KYNU
LAMP2
LARP7
LARS2
LBR
LIG4
LIPA
LMBR1
LMNA
LMX1B
LRP4
LYST
LZTR1
MAP2K1
MAP2K2
MAP3K7
MAPRE2
MASP1
MBTPS2
MCPH1
MED12
MED13L
MED25
MEIS2
MEOX1
METTL23
MFSD2A
MGP
MID1
MIR17HG
MKS1
MLPH
MPLKIP
MRE11
MSMO1
MSX1
MYCN
MYMK
MYO5A
NBN
NDE1
NECTIN1
NEDD4L
NEK1
NEU1
NF1
NHEJ1
NIN
NIPBL
NKX2-5
NKX2-6
NOG
NOTCH1
NPC1
NRAS
NSDHL
NSMCE2
OFD1
ORC1
ORC4
ORC6
PALB2
PAX3
PCNT
PDHA1
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP2
PHC1
PHF8
PHGDH
PIEZO1
PIEZO2
PIGA
PIGL
PIGN
PIGV
PIK3R2
PITX1
PLAA
PLK4
PMM2
PNKP
POC1A
POLH
POLR1C
POLR1D
POMT1
POMT2
PORCN
PPP1CB
PPP1R15B
PQBP1
PRUNE1
PSAT1
PTCH1
PTDSS1
PTEN
PTHLH
PTPN11
PUF60
QARS
RAB27A
RAD21
RAD51C
RAF1
RAI1
RAP1A
RAP1B
RARB
RASA2
RBBP8
RBM10
RBM8A
RBPJ
RECQL4
RIT1
RNF113A
RNU4ATAC
ROR2
RPGRIP1L
RPL10
RPL11
RPL15
RPL26
RPL35A
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS28
RPS29
RPS7
RTTN
RYR1
SALL1
SALL4
SAMD9
SASS6
SATB2
SCARF2
SEC23A
SEPT9
SF3B4
SGPL1
SHH
SHOC2
SHOX
SIL1
SIX1
SIX3
SIX5
SKI
SLC17A5
SLC25A19
SLC26A2
SLC35B4
SLC9A6
SLX4
SMAD3
SMAD4
SMC1A
SMC3
SMG9
SMOC1
SMPD1
SMS
SNAP29
SNRPB
SON
SOS1
SOS2
SOX2
SOX9
SPECC1L
SPRED1
STAMBP
STIL
STRA6
STXBP1
SUMF1
SUMO1
TAF13
TALDO1
TBX1
TBX15
TBX22
TBX3
TBX5
TCOF1
TCTN3
TELO2
TFAP2A
TGDS
TGFB3
TGFBR1
THPO
TMCO1
TP63
TRAIP
TRAP1
TRAPPC9
TRIM37
TRMT10A
TTC21B
TUBB
TUBGCP3
TUBGCP4
TUBGCP6
TWIST2
TXNL4A
UBB
UBE2T
UQCC2
UROS
VAX1
VPS13B
WASHC5
WDFY3
WDR19
WDR34
WDR35
WDR4
WDR60
WDR62
WDR73
WNT3
WNT5A
WNT7A
XPA
XPC
XRCC4
XYLT1
YAP1
ZBTB24
ZEB2
ZIC2
ZIC3
ZMPSTE24
ZNF335
ZSWIM6
VACTERL-like Phenotypes58 genes
Nom et numéro du panel : VACTERL-like Phenotypes MDG-2208.00
Gènes inclus dans le panel :
ARHGAP31
BMP2
BMPR1B
CC2D2A
CDH3
CEP290
CHD4
CHD7
CHSY1
EFTUD2
ESCO2
FANCB
FBLN1
FBXW4
FGF10
FGFR2
FGFR3
FMN1
GDF5
GLI3
GNAS
GREM1
HAAO
HDAC4
HOXA13
HOXD13
IHH
KIF7
KYNU
LMBR1
LRP4
MGP
MIR17HG
MKS1
MYCN
NIPBL
NOG
PIGV
PITX1
PTEN
PTHLH
PUF60
RECQL4
ROR2
RPGRIP1L
SALL1
SALL4
SHH
SOX9
TBX15
TBX3
TBX5
THPO
TP63
TRAP1
WNT3
WNT7A
ZIC3
Overgrowth Syndromes60 genes
Nom et numéro du panel : Overgrowth Syndromes MDG-2209.00
Gènes inclus dans le panel :
ABCC9
AKT1
AKT2
AKT3
ASPA
ASXL2
BRWD3
CCND2
CDKN1C
CHD8
CUL4B
DICER1
DIS3L2
DNMT3A
EED
EIF2B5
EZH2
GFAP
GLI3
GNAQ
GPC3
GPSM2
GRIA3
H19
HEPACAM
HERC1
HIST1H1E
HUWE1
IGF2
KCNQ1OT1
KIF7
KPTN
L1CAM
MED12
MLC1
NF1
NFIX
NPR2
NSD1
OFD1
PDGFRB
PHF6
PIK3CA
PIK3R2
PPP2R5D
PTCH1
PTEN
RAB39B
RNF125
RNF135
SETD2
SNX14
SPRED1
STRADA
SYN1
TBC1D7
TSC1
TSC2
UPF3B
WASHC5
Craniosynostosis Syndromes65 genes
Nom et numéro du panel : Craniosynostosis Syndromes MDG-2204.00
Gènes inclus dans le panel :
ADAMTSL4
ALPL
ALX4
ASXL1
ATR
CDC45
COLEC11
CTSK
CYP26B1
DHRS3
EFNA4
EFNB1
ERF
ESCO2
FAM20C
FBN1
FGFR1
FGFR2
FGFR3
FLNA
FREM1
GLI3
GNAS
GNPTAB
GPC3
HUWE1
IDS
IDUA
IFT122
IHH
IL11RA
IRX5
JAG1
KAT6A
KMT2D
KRAS
LMX1B
LRP5
MASP1
MEGF8
MSX2
PHEX
POR
PRRX1
RAB23
RECQL4
RUNX2
SCARF2
SH3PXD2B
SIX1
SKI
SMAD6
SMO
SPECC1L
STAT3
TCF12
TCOF1
TGFBR1
TGFBR2
TICRR
TMCO1
TWIST1
WDR35
ZEB2
ZIC1
Episodic Ataxia and hemiplegia6 genes
Nom et numéro du panel : Episodic Ataxia and hemiplegia MDG-1217.00
Gènes inclus dans le panel :
ATP1A2
ATP1A3
CACNA1A
CACNB4
KCNA1
SLC1A3
Paroxysmal Dyskinesia6 genes
Nom et numéro du panel : Paroxysmal Dyskinesia MDG-1216.00
Gènes inclus dans le panel :
ADCY5
KCNMA1
PNKD
PRRT2
SCN8A
SLC2A1
Monogenic obesity including syndromic48 genes
Nom et numéro du panel : Monogenic obesity including syndromic MDG-2107.00
Gènes inclus dans le panel :
AFF4
AKR1C2
ALMS1
ARL6
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
CEP19
CEP290
CPE
CUL4B
DYRK1B
GNAS
IFT172
IFT74
INPP5E
KIDINS220
KSR2
LEP
LEPR
MAGEL2
MC4R
MKKS
MKS1
MRAP2
MYT1L
NR0B2
NTRK2
PCSK1
PHF6
POMC
PPARG
PRMT7
SDCCAG8
SETD2
SH2B1
SIM1
TRIM32
TTC8
TUB
UCP3
VPS13B
WDPCP
Intrauterine Growth Restriction (IUGR)109 genes
Nom et numéro du panel : Intrauterine Growth Restriction (IUGR) MDG-2105.00
Gènes inclus dans le panel :
ACAN
ANKRD11
ATRIP
ATRX
BLM
BRAF
BTK
CBL
CCDC8
CDC6
CDKN1C
CDT1
CENPJ
CHD7
CREBBP
CRIPT
CUL7
DHCR7
DNA2
DOK7
EP300
EPHX1
ERCC6
ERCC8
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FGD1
FGF8
FGFR1
GH1
GHR
GHRHR
GHSR
GLI2
GLI3
GPR161
H19
HDAC8
HESX1
HRAS
IFT172
IGF1
IGF1R
IGF2
IGFALS
INSR
KDM6A
KMT2D
KRAS
LHX3
LHX4
LIG1
LIG4
MAP2K1
MAP2K2
MCM5
NBN
NIPBL
NRAS
OBSL1
ORC1
ORC4
ORC6
OTX2
PAPPA2
PCNT
PIK3R1
PITX2
PNPLA6
POU1F1
PROKR2
PROP1
PTPN11
RAD21
RAF1
RAPSN
RBBP8
RIT1
RNPC3
RNU4ATAC
ROR2
RPL10
RPS6KA3
SAMD9
SHOC2
SHOX
SHOX2
SMARCAL1
SMC1A
SMC3
SOS1
SOX2
SOX3
SRCAP
STAT5B
TBCE
THRB
TRIM37
WRN
XRCC4
ZFP57
Ciliopathies200 genes
Nom et numéro du panel : Ciliopathies MDG-2201.00
Gènes inclus dans le panel :
ACVR2B
ADGRV1
AGPAT2
AHI1
AIPL1
ALMS1
ANKS6
ARL13B
ARL6
ARMC4
ARMC9
ATXN10
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
C2CD3
C2orf71
C8orf37
CC2D2A
CCDC103
CCDC114
CCDC151
CCDC28B
CCDC39
CCDC40
CCDC65
CCNO
CDH23
CENPF
CEP104
CEP120
CEP164
CEP290
CEP41
CEP55
CEP83
CFAP298
CFAP43
CFAP44
CFAP53
CFC1
CFTR
CLRN1
CPLANE1
CRB1
CRB2
CRELD1
CRX
CSPP1
DCDC2
DDX59
DHCR7
DNAAF1
DNAAF2
DNAAF3
DNAAF4
DNAAF5
DNAH1
DNAH11
DNAH5
DNAH8
DNAI1
DNAI2
DNAJB13
DNAL1
DNHD1
DRC1
DYNC2H1
DYNC2LI1
EVC
EVC2
EXOC8
FOXH1
GAS8
GDF1
GLI3
GLIS2
GUCY2D
HNF1B
HYDIN
HYLS1
IFT122
IFT140
IFT172
IFT27
IFT43
IFT52
IFT74
IFT80
IFT81
IMPDH1
INPP5E
INVS
IQCB1
KCNJ13
KIAA0556
KIAA0586
KIAA0753
KIF14
KIF7
LBR
LCA5
LEFTY2
LRAT
LRRC56
LRRC6
LZTFL1
MAPKBP1
MCIDAS
MKKS
MKS1
MRE11
MUC1
MYO7A
NEK1
NEK8
NKX2-5
NME8
NODAL
NPHP1
NPHP3
NPHP4
OCRL
OFD1
PCDH15
PDE6D
PIBF1
PIH1D3
PKD1
PKD2
PKHD1
PMM2
POC1A
POC1B
PRKCSH
RD3
RDH12
RPE65
RPGR
RPGRIP1
RPGRIP1L
RSPH1
RSPH3
RSPH4A
RSPH9
SBDS
SCLT1
SCNN1A
SCNN1B
SCNN1G
SDCCAG8
SEC63
SPAG1
SPATA7
TAPT1
TBC1D32
TCTN1
TCTN2
TCTN3
TMEM107
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TOPORS
TRAF3IP1
TRIM32
TSC1
TSC2
TTBK2
TTC21B
TTC8
TULP1
UMOD
USH1C
USH1G
USH2A
VHL
VPS13B
WDPCP
WDR19
WDR34
WDR35
WDR60
WDR63
WHRN
XPNPEP3
ZIC3
ZMYND10
ZNF423
ZSWIM6
Disorders of Sex Development51 genes
Nom et numéro du panel : Disorders of Sex Development MDG-2103.00
Gènes inclus dans le panel :
AKR1C2
AR
ARX
ATP6V0A4
ATRX
CBX2
CDKN1C
CHD7
CUL4B
CYB5A
CYP11A1
CYP11B1
CYP17A1
CYP19A1
CYP21A2
DGKQ
DHCR7
DHH
DMRT1
ERAL1
GATA4
GLI2
HHAT
HSD17B2
HSD17B3
HSD3B2
INPP5E
LHCGR
MAMLD1
MAP3K1
MCM5
NR0B1
NR5A1
PAX6
POR
RPL10
RSPO1
SAMD9
SEMA3E
SGPL1
SOX10
SOX9
SRD5A2
SRY
STAR
TAF4B
TOE1
TSPYL1
TWIST2
WT1
ZFPM2
Pneumology
Pulmonary Hypertension18 genes
Nom et numéro du panel : Pulmonary Hypertension MDG-2002.00
Gènes inclus dans le panel :
ACVRL1
AQP1
ATP13A3
BMPR1B
BMPR2
CAV1
CBLN2
EIF2AK4
ENG
GDF2
KCNA5
KCNK3
RASA1
SMAD1
SMAD4
SMAD9
SOX17
TBX4
Lung Disorders94 genes
Nom et numéro du panel : Lung Disorders MDG-2001.00
Gènes inclus dans le panel :
ABCA3
ACVRL1
ALDH18A1
AP3B1
ASAH1
ASCL1
ATM
ATP6V0A2
ATP7A
ATR
BDNF
BLOC1S3
BLOC1S6
BMPR2
CASR
CCDC39
CCDC40
CFTR
COL3A1
CSF2RA
CSF2RB
DKC1
DNAAF1
DNAAF2
DNAH11
DNAH5
DNAI1
DNAI2
DNAL1
DOCK8
DTNBP1
EDN3
EFEMP2
ELMOD2
ELN
ENG
FAM111B
FBLN5
FBN1
FLCN
FOXF1
GBA
GDF2
GDNF
HPS1
HPS3
HPS4
HPS5
HPS6
ITGA3
KRIT1
LTBP4
MRE11
MTHFR
MUC5B
NF1
NKX2-1
NME8
PARN
PHOX2B
PIK3CA
PYCR1
RASA1
RET
RSPH4A
RSPH9
RTEL1
SCNN1A
SCNN1B
SCNN1G
SERPINA1
SFTPA1
SFTPA2
SFTPB
SFTPC
SFTPD
SLC34A2
SLC7A7
SMAD3
SMAD4
SMAD9
SMPD1
SOX18
STAT3
TEK
TERC
TERT
TGFB2
TGFB3
TGFBR1
TGFBR2
TINF2
TSC1
TSC2
Sketetal dysplasia
Skeletal Dysplasia274 genes
Nom et numéro du panel : Skeletal Dysplasia MDG-1401.01
Gènes inclus dans le panel :
ACAN
ACP5
ADAMTSL2
AGPS
ALPL
ALX4
AMER1
ANKH
ANO5
AP2S1
ARHGAP31
ARSE
ATP6V0A2
ATR
B3GALT6
B3GAT3
B4GALT7
BHLHA9
BMP1
BMP2
BMPER
BMPR1B
CA2
CANT1
CASR
CC2D2A
CCDC8
CCN6
CCNQ
CDC6
CDH3
CDKN1C
CDT1
CENPJ
CEP120
CEP152
CEP290
CEP63
CHST14
CHST3
CHSY1
CLCN5
CLCN7
COG4
COL10A1
COL11A1
COL11A2
COL1A1
COL1A2
COL2A1
COL9A1
COL9A2
COL9A3
COMP
CREBBP
CRTAP
CSF1R
CSPP1
CTSK
CUL7
CYP24A1
CYP27B1
CYP2R1
DDR2
DHCR24
DHCR7
DLL3
DLX3
DMP1
DNA2
DYM
DYNC2H1
EBP
EFNB1
EIF2AK3
ENPP1
EP300
ERF
ESCO2
EVC
EVC2
EXT1
EXT2
FAM111A
FAM20C
FBLN1
FBN1
FBXW4
FERMT3
FGF10
FGF16
FGF23
FGF9
FGFR1
FGFR2
FGFR3
FKBP10
FLNA
FLNB
FREM1
GALNT3
GCM2
GDF3
GDF5
GDF6
GJA1
GLI3
GNA11
GNAS
GNPAT
GORAB
GPC4
GPC6
GSC
HDAC4
HES7
HOXA11
HOXD13
HPGD
HSPG2
ICK
IFITM5
IFT122
IFT140
IFT172
IFT43
IFT80
IHH
IL11RA
IMPAD1
INPPL1
KIAA0586
KIF22
KIF7
LARP7
LBR
LEMD3
LFNG
LIFR
LMBR1
LMNA
LMX1B
LRP4
LRP5
LSS
MAFB
MASP1
MATN3
MEGF8
MEOX1
MESP2
MGP
MKS1
MMP13
MMP2
MMP9
MSX2
MTAP
MYCN
NEK1
NIN
NIPBL
NKX3-2
NOG
NOTCH2
NPR2
NSDHL
OBSL1
OFD1
ORC1
ORC4
ORC6
OSTM1
P3H1
PAPSS2
PCNT
PCYT1A
PDE4D
PEX7
PHEX
PIGV
PITX1
PLEKHM1
PLOD2
PLS3
POC1A
POLE
POP1
POR
PPIB
PRKAR1A
PTDSS1
PTH
PTH1R
PTHLH
PTPN11
PYCR1
RAB23
RAB33B
RASGRP2
RBBP8
RBM8A
RECQL4
RMRP
RNU4ATAC
ROR2
RPGRIP1L
RUNX2
SALL1
SALL4
SBDS
SERPINF1
SERPINH1
SF3B4
SH3PXD2B
SHH
SHOX
SKI
SLC25A12
SLC26A2
SLC34A1
SLC34A3
SLC35D1
SLC39A13
SLC9A3R1
SLCO2A1
SLCO5A1
SMARCAL1
SNX10
SOST
SOX9
SP7
SULF1
TBCE
TBX15
TBX3
TBX5
TBX6
TBXAS1
TCF12
TCIRG1
TCOF1
TCTN3
TGFB1
THPO
TMEM216
TMEM38B
TMEM67
TNFRSF11A
TNFRSF11B
TNFSF11
TONSL
TP63
TRAPPC2
TREM2
TRIP11
TRPS1
TRPV4
TTC21B
TWIST1
TYROBP
VDR
WDR19
WDR34
WDR35
WDR60
WNT1
WNT10B
WNT3
WNT5A
WNT7A
XYLT1
ZMPSTE24
ZSWIM6
