Rui Chen Lab (Baylor College of Medicine)
General information
Personnel
- Rui Chen
Phone: 713-798-5194
Email: ruichen@bcm.edu
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 26
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCA4 | 3 | May 15, 2017 |
| ADGRA3 | 1 | May 15, 2017 |
| AHI1 | 1 | May 15, 2017 |
| CACNA1F | 1 | May 15, 2017 |
| CEP290 | 2 | May 15, 2017 |
| CLUAP1 | 1 | Apr 29, 2015 |
| CRB1 | 1 | May 15, 2017 |
| GIGYF2 | 1 | May 15, 2017 |
| KCNJ13 | 1 | May 15, 2017 |
| KIAA1549 | 1 | May 15, 2017 |
| LOC130056226 | 1 | May 15, 2017 |
| PDE6A | 1 | May 15, 2017 |
| RP2 | 2 | May 15, 2017 |
| RPE65 | 2 | May 15, 2017 |
| RPGR | 1 | May 15, 2017 |
| RPGRIP1 | 3 | May 15, 2017 |
| SLC38A8 | 1 | May 15, 2017 |
| SPATA7 | 2 | May 15, 2017 |
| USH2A | 2 | May 15, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Leber congenital amaurosis | 17 | May 15, 2017 |
| Retinal dystrophy | 1 | May 15, 2017 |
| Retinitis pigmentosa | 4 | May 15, 2017 |
| Stargardt disease | 2 | May 15, 2017 |
| Usher syndrome type 2A | 2 | May 15, 2017 |