Ectodermal Dysplasia
Gene: TP63
TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 12 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Hair disorders
- Fetal anomalies
- Clefting disorders
- Severe Combined Immunodeficiency (absent T present B cells)
- Amelogenesis imperfecta
- Mendeliome
- Intellectual disability syndromic and non-syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Desmosomal disorders
- Hand and foot malformations
- Ectodermal Dysplasia
History Filter Activity
14 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TP63 was added gene: TP63 was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP63 were set to Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome