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 | Panel |
|---|---|---|---|---|
| EPCAM | not specified | loss of function | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 | |
| EPCAM | biallelic | loss of function | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL |