Paul Sabatier University EA-4555 (Paul Sabatier University)
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 65
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADAM17 | 1 | Dec 17, 2015 |
| ARR3 | 1 | Dec 17, 2015 |
| CDH1 | 1 | Dec 17, 2015 |
| CEP83 | 1 | Dec 17, 2015 |
| CHRD | 1 | Dec 17, 2015 |
| CHST5 | 1 | Dec 17, 2015 |
| CYP26C1 | 1 | Dec 17, 2015 |
| DAB1 | 1 | Dec 17, 2015 |
| DACT1 | 1 | Dec 17, 2015 |
| DICER1 | 1 | Dec 17, 2015 |
| EFHD1 | 1 | Dec 17, 2015 |
| EPHB2 | 1 | Dec 17, 2015 |
| FAT1 | 1 | Dec 17, 2015 |
| FAT4 | 2 | Dec 17, 2015 |
| FGFR3 | 1 | Dec 17, 2015 |
| FRAS1 | 2 | Dec 17, 2015 |
| FREM1 | 1 | Dec 17, 2015 |
| GLI2 | 1 | Dec 17, 2015 |
| GLIS3 | 1 | Dec 17, 2015 |
| IFT172 | 2 | Dec 17, 2015 |
| KIF21A | 1 | Dec 17, 2015 |
| KRTCAP3 | 1 | Dec 17, 2015 |
| LOC100507346 | 1 | Dec 17, 2015 |
| LOC122861314 | 1 | Dec 17, 2015 |
| LOC126806173 | 1 | Dec 17, 2015 |
| MAP3K1 | 1 | Dec 17, 2015 |
| MITF | 1 | Dec 17, 2015 |
| MYO1C | 1 | Dec 17, 2015 |
| NDST2 | 2 | Dec 17, 2015 |
| NDST2-ZSWIM8-AS1 | 2 | Dec 17, 2015 |
| NOTCH1 | 2 | Dec 17, 2015 |
| NOTCH4 | 1 | Dec 17, 2015 |
| NR5A2 | 1 | Dec 17, 2015 |
| PAX6 | 1 | Dec 17, 2015 |
| PFKP | 1 | Dec 17, 2015 |
| PITRM1 | 1 | Dec 17, 2015 |
| PITRM1-AS1 | 1 | Dec 17, 2015 |
| PLXNC1 | 1 | Dec 17, 2015 |
| PRPF8 | 1 | Dec 17, 2015 |
| PTCH1 | 8 | Dec 17, 2015 |
| RAB41 | 1 | Dec 17, 2015 |
| RARG | 1 | Dec 17, 2015 |
| RPGRIP1 | 2 | Dec 17, 2015 |
| SALL3 | 1 | Dec 17, 2015 |
| SEZ6L2 | 1 | Dec 17, 2015 |
| SFRP2 | 1 | Dec 17, 2015 |
| SOX14 | 1 | Dec 17, 2015 |
| STRA6 | 3 | Dec 17, 2015 |
| SULF1 | 1 | Dec 17, 2015 |
| TAMALIN | 1 | Dec 17, 2015 |
| TSHZ2 | 2 | Dec 17, 2015 |
| VAX2 | 1 | Dec 17, 2015 |
| VSX2 | 2 | Dec 17, 2015 |
| WNT7A | 1 | Dec 17, 2015 |
| WNT7B | 2 | Aug 31, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Anophthalmia-microphthalmia syndrome | 51 | Aug 31, 2017 |
| Congenital aniridia | 2 | Dec 17, 2015 |
| Irido-corneo-trabecular dysgenesis | 10 | Dec 17, 2015 |
| Matthew-Wood syndrome | 1 | Aug 31, 2017 |
| Rieger anomaly | 6 | Dec 17, 2015 |