Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes (Institut de génétique et de biologie moléculaire et cellulaire (IGBMC)), GPMNE
General information
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 109
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACSM2A | 2 | Jul 17, 2015 |
| ADAM19 | 1 | Jul 17, 2015 |
| AHNAK2 | 2 | Jul 17, 2015 |
| AIPL1 | 1 | Jul 17, 2015 |
| ARMCX4 | 1 | Jul 17, 2015 |
| ASNS | 1 | Jul 17, 2015 |
| ATXN7 | 2 | Jul 17, 2015 |
| BEX2 | 1 | Jul 17, 2015 |
| CACNA1F | 1 | Jul 17, 2015 |
| CELSR1 | 2 | Jul 17, 2015 |
| CFAP47 | 1 | Jul 17, 2015 |
| CLC | 1 | Jul 17, 2015 |
| COL3A1 | 1 | Jul 17, 2015 |
| CZ1P-ASNS | 1 | Jul 17, 2015 |
| DACH2 | 1 | Jul 17, 2015 |
| DHTKD1 | 1 | Jul 17, 2015 |
| DMD | 1 | Jul 17, 2015 |
| DROSHA | 1 | Jul 17, 2015 |
| DYNC1H1 | 1 | Jul 17, 2015 |
| DYRK1B | 1 | Jul 17, 2015 |
| EVPL | 2 | Jul 17, 2015 |
| FAM47A | 2 | Jul 17, 2015 |
| FAT2 | 1 | Jul 17, 2015 |
| FILIP1 | 3 | Jul 17, 2015 |
| FLNA | 1 | Jul 17, 2015 |
| FRMPD3 | 1 | Jul 17, 2015 |
| GDPD2 | 1 | Jul 17, 2015 |
| GRID1 | 2 | Jul 17, 2015 |
| GYG2 | 1 | Jul 17, 2015 |
| HDAC6 | 1 | Jul 17, 2015 |
| HLA-A | 2 | Jul 17, 2015 |
| KANK1 | 2 | Jul 17, 2015 |
| LACTB | 1 | Jul 17, 2015 |
| LOC105370947 | 1 | Jul 17, 2015 |
| LOC107988032 | 1 | Jul 17, 2015 |
| LOC126863198 | 1 | Jul 17, 2015 |
| LOC129936979 | 1 | Jul 17, 2015 |
| LOC130057223 | 1 | Jul 17, 2015 |
| LRRC66 | 1 | Jul 17, 2015 |
| MBTPS2 | 1 | Jul 17, 2015 |
| MEIS3 | 1 | Jul 17, 2015 |
| METTL1 | 1 | Jul 17, 2015 |
| MROH2A | 2 | Jul 17, 2015 |
| MUC16 | 6 | Jul 17, 2015 |
| NAP1L2 | 1 | Jul 17, 2015 |
| NAP1L3 | 1 | Jul 17, 2015 |
| NXPE3 | 3 | Jul 17, 2015 |
| PARP14 | 2 | Jul 17, 2015 |
| PHF24 | 5 | Jul 17, 2015 |
| PHKA2 | 1 | Jul 17, 2015 |
| PI4K2B | 2 | Jul 17, 2015 |
| PLA2G4E | 1 | Jul 17, 2015 |
| PLA2G4E-AS1 | 1 | Jul 17, 2015 |
| PLEKHG2 | 2 | Jul 17, 2015 |
| PLEKHG4B | 2 | Jul 17, 2015 |
| PNPLA4 | 1 | Jul 17, 2015 |
| PRR12 | 1 | Jul 17, 2015 |
| PTPRT | 1 | Jul 17, 2015 |
| RBMX2 | 1 | Jul 17, 2015 |
| RELN | 1 | Jul 17, 2015 |
| RFX1 | 1 | Jul 17, 2015 |
| SCN10A | 1 | Jul 17, 2015 |
| SLC13A1 | 2 | Jul 17, 2015 |
| SLC26A5-AS1 | 1 | Jul 17, 2015 |
| SLC38A5 | 1 | Jul 17, 2015 |
| SPATA31F1 | 5 | Jul 17, 2015 |
| STX7 | 1 | Apr 29, 2015 |
| TBC1D25 | 1 | Jul 17, 2015 |
| THADA | 2 | Jul 17, 2015 |
| TLR6 | 1 | Jul 17, 2015 |
| TMX2 | 1 | Jul 17, 2015 |
| TMX2-CTNND1 | 1 | Jul 17, 2015 |
| TNK2 | 2 | Jul 17, 2015 |
| TREX2 | 1 | Jul 17, 2015 |
| TTN | 4 | Jul 17, 2015 |
| TTN-AS1 | 3 | Jul 17, 2015 |
| TUBA1A | 1 | Jul 17, 2015 |
| URI1 | 2 | Jul 17, 2015 |
| VPS13B | 1 | Jul 17, 2015 |
| WDR62 | 2 | Jul 17, 2015 |
| WDR73 | 1 | Jul 17, 2015 |
| ZMAT1 | 1 | Jul 17, 2015 |
| ZNF41 | 1 | Jul 17, 2015 |
| ZNF75D | 1 | Jul 17, 2015 |
| ZSCAN2 | 1 | Jul 17, 2015 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormality of neuronal migration | 109 | Jul 17, 2015 |