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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 |