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 are aligning our existing terms to the new terminology.
We are planning to move to the new terminology this autumn. Please find out more about the planned 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 | loss of function | PPK Naxos (+ woolly hair + ECG abnormalities, NAXOS disease) | Skin |