For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| TINF2 | monoallelic_autosomal | absent gene product,altered gene product structure | TINF2-related Dyskeratosis congenita, autosomal dominant | Cancer | |
| TINF2 | monoallelic_autosomal | absent gene product | TINF2-related EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE | DD,Eye |