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
monoallelic_autosomal
absent gene product
loss_of_function_variant
| Panel | Confidence category |
|---|---|
| DD | definitive |
No comments have been assigned to the G2P entry yet.
List of publications that have been assigned to the G2P entry:
List of phenotypes that have been assigned to the G2P entry:
List of organs that have been assigned to the G2P entry: