Clefting disorders
Gene: TP63EnsemblGeneIds (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
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400
- EEC3
- Limb-mammary syndrome, 603543
- AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260
- EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting)
- ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
- Cleft lip
- Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TP63 was added gene: TP63 was added to Clefting_GEL. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services,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 Orofacial cleft 8, EEC SYNDROME 3, Rapp Hodgkins syndrome, 129400; EEC3; Limb-mammary syndrome, 603543; AEC (Ankyloblepharon filiforme adnatum, Ectodermal defects and Clefting), Hay Wells syndrome 106260; EEC syndrome (Ectrodactyly, Ectodermal dysplasia and Clefting); ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; Cleft lip; Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3, 604292