INSERM U1051 (Institut des Neurosciences de Montpellier), U1051
General information
Personnel
- Guy LENAERS
Phone: 33 499 63 60 53
Email: [email protected] - Beatrice Bocquet, Administrator
Phone: +33 4 67 33 69 74
Email: [email protected] - Isabelle Meunier, Coordinator
Phone: +33 4 67 33 69 75
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 38
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CDHR1 | 2 | Jul 13, 2020 |
| CERKL | 1 | Jul 13, 2020 |
| CNGB1 | 3 | Jul 13, 2020 |
| CRB1 | 5 | Jul 13, 2020 |
| EYS | 5 | Jul 13, 2020 |
| LCA5 | 1 | Jul 13, 2020 |
| LOC122152296 | 1 | Jul 13, 2020 |
| LOC125371495 | 1 | May 23, 2014 |
| LOC126860392 | 1 | Jul 13, 2020 |
| MERTK | 1 | Jul 13, 2020 |
| NDUFA13 | 1 | May 23, 2014 |
| PCARE | 3 | Jul 13, 2020 |
| PHF3 | 1 | Jul 13, 2020 |
| PRPF31 | 2 | Jul 13, 2020 |
| PRPF31-AS1 | 2 | Jul 13, 2020 |
| PRPF8 | 1 | Jul 13, 2020 |
| RHO | 1 | Jul 13, 2020 |
| RP1 | 2 | Jul 13, 2020 |
| RPE65 | 1 | Jul 13, 2020 |
| SNRNP200 | 1 | Jul 13, 2020 |
| TULP1 | 3 | Jul 13, 2020 |
| USH2A | 5 | Jul 13, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Mitochondrial complex I deficiency | 1 | May 23, 2014 |
| Retinitis pigmentosa | 37 | Jul 13, 2020 |