For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panels | Go to page |
|---|---|---|---|---|---|
| MAP3K1 | monoallelic_autosomal | absent gene product | MAP3K1-related Breast cancer, susceptibility to | Cancer | |
| MAP3K1 | monoallelic_autosomal | absent gene product | MAP3K1-related 46XY SEX REVERSAL 6 | DD |