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 |
|---|---|---|---|---|---|
| EPCAM | monoallelic_autosomal | 5_prime or 3_prime UTR mutation,absent gene product | EPCAM-related COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 | Cancer | |
| EPCAM | biallelic_autosomal | absent gene product | EPCAM-related DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | DD |