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 |
|---|---|---|---|---|---|
| NOP10 | biallelic_autosomal | absent gene product,altered gene product structure | NOP10-related Dyskeratosis congenita, autosomal recessive | Cancer | |
| NOP10 | biallelic_autosomal | altered gene product structure | NOP10-related DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 | DD |