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 |
|---|---|---|---|---|---|
| CDKN1C | monoallelic_autosomal | absent gene product | BECKWITH-WIEDEMANN SYNDROME | DD | |
| CDKN1C | monoallelic_autosomal | altered gene product structure | IMAGe Syndrome | DD | |
| CDKN1C | monoallelic_autosomal | uncertain | BECKWITH-WIEDEMANN SYNDROME | Skin |