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 |
|---|---|---|---|---|---|
| NF2 | monoallelic_autosomal | absent gene product | NF2-related SCHWANNOMATOSIS | Cancer,Skin | |
| NF2 | monoallelic_autosomal | absent gene product | NF2-related NEUROFIBROMATOSIS, TYPE 2 | Eye |