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 |
|---|---|---|---|---|---|
| APC | monoallelic_autosomal | absent gene product | APC-related ADENOMATOUS POLYPOSIS COLI | Cancer,Eye,Skin | |
| APC | monoallelic_autosomal | uncertain | APC-related DESMOID DISEASE, HEREDITARY | Skin |