For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
The GenCC develops consistent terminology for describing gene-disease validity. As part of the GenCC we aligned our existing terms to the new terminology.
Please find out more about the update here.
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| MSH2 | biallelic_autosomal | absent gene product | CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME | Cancer | |
| MSH2 | monoallelic_autosomal | absent gene product | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1 | Cancer | |
| MSH2 | biallelic_autosomal | absent gene product | CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME (CCMRD) | Skin | |
| MSH2 | monoallelic_autosomal | absent gene product | MUIR-TORRE SYNDROME | Skin |