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 |
|---|---|---|---|---|---|
| SDHD | monoallelic_autosomal | absent gene product | PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS | Cancer,Skin | |
| SDHD | monoallelic_autosomal | altered gene product structure | CARCINOID TUMORS, INTESTINAL | Cancer,Skin | |
| SDHD | monoallelic_autosomal | altered gene product structure | Pheochromocytoma | Skin |