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 |
|---|---|---|---|---|---|
| JUP | biallelic_autosomal | altered gene product structure | JUP-related Naxos disease | Cardiac | |
| JUP | biallelic_autosomal | absent gene product | PPK Naxos (+ woolly hair + ECG abnormalities, NAXOS disease) | Skin |