Hereditary retinoblastoma
Information
- Disease name
- Hereditary retinoblastoma
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| RB1 | 13 | 48,303,751 | 48,481,890 | 46 |
| PTCH1 | 9 | 95,442,980 | 95,509,266 | 10 |
| ATM | 11 | 108,222,804 | 108,369,102 | 6 |
| BRCA2 | 13 | 32,315,508 | 32,400,268 | 6 |
| BRCA1 | 17 | 43,044,295 | 43,125,483 | 6 |
| TMEM127 | 2 | 96,248,514 | 96,265,997 | 6 |
| TSHR | 14 | 80,955,043 | 81,146,302 | 4 |
| TERT | 5 | 1,253,167 | 1,295,068 | 4 |
| TSC2 | 16 | 2,047,985 | 2,089,491 | 4 |
| RAD51C | 17 | 58,692,602 | 58,735,611 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03026998 | Active, not recruiting | N/A | MRI Screening of Second Primary Cancer Occurring Within Radiation Fields After Treatment by External Beam Radiation Therapy for Hereditary Retinoblastoma (DepiSCARRH) | March 19, 2017 | March 2034 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 |