For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
We need your help!
If you’ve ever found our data helpful, please take our impact survey (15 min). Your replies will help keep the data flowing to the scientific community.
For example: CRYBA1, ZEB2, TBX1, CHANARIN-DORFMAN SYNDROME or Severe Neurodevelopmental Syndrome
| Gene symbol | Genotype | Mutation consequence | Disease | Panel |
|---|---|---|---|---|
| TP63 | monoallelic | all missense/in frame | LIMB-MAMMARY SYNDROME | |
| TP63 | monoallelic | loss of function | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | |
| TP63 | monoallelic | loss of function | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 | |
| TP63 | monoallelic | uncertain | ADULT SYNDROME | |
| TP63 | monoallelic | dominant negative | RAPP-HODGKIN SYNDROME | |
| TP63 | monoallelic | loss of function | ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 | |
| TP63 | monoallelic | uncertain | ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE |