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 |
|---|---|---|---|---|---|
| KRT1 | monoallelic_autosomal | altered gene product structure | Ichthyosis hystrix, Curth-Macklin type | Skin | |
| KRT1 | monoallelic_autosomal | altered gene product structure | Ichthyosis, cyclic with epidermolytic hyperkeratosis | Skin | |
| KRT1 | monoallelic_autosomal | altered gene product structure | PPK Vorner-Unna-Thost (non-epidermolytic) | Skin | |
| KRT1 | monoallelic_autosomal | altered gene product structure | Ichthyosiform erythroderma, bullous | Skin |