Ectodermal dysplasia
Gene: TP63EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels
2 reviews
John McGrath (King's College London)
Phenotypes
Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome); Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC syndrome); Cleft lip/palate-ectodermal dysplasia syndrome; EEC Syndrome; Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome (EEC syndrome); Limb-mammary syndrome; Rapp-Hodgkin syndrome
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Source: OMIM and Gene2Phenotype.Created: 25 Jul 2016, 8:51 a.m.
Comment on list classification: Promoted from amber to green due to expert review. It is a confirmed DD gene for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE. Multiple cases reported in OMIM.Created: 25 Jul 2016, 8:51 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- ADULT syndrome, OMIM:103285
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292
- Hay-Wells syndrome, OMIM:106260
- Limb-mammary syndrome, OMIM:603543
- Rapp-Hodgkin syndrome, OMIM:129400
- Split-hand/foot malformation 4, OMIM:605289
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- VACTERL-like phenotypes
- Amelogenesis imperfecta
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- DDG2P
- Primary ovarian insufficiency
- Clefting
- Ectodermal dysplasia
- Epidermolysis bullosa and congenital skin fragility
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TP63 were changed from Limb-mammary syndrome, 603543; Rapp-Hodgkin Syndrome; ADULT syndrome, 103285; Orofac; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Orofacial cleft 8, 129400; Hay-Wells syndrome, 106260; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; Split-Hand/foot Malformation 4; Split-hand/foot malformation 4, 605289; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; Rapp-Hodgkin syndrome, 129400; Limb-Mammary Syndrome; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Adult Syndrome to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TP63 was added gene: TP63 was added to Ectodermal dysplasia. Sources: 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 Limb-mammary syndrome, 603543; Rapp-Hodgkin Syndrome; ADULT syndrome, 103285; Orofac; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Orofacial cleft 8, 129400; Hay-Wells syndrome, 106260; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; Split-Hand/foot Malformation 4; Split-hand/foot malformation 4, 605289; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; Rapp-Hodgkin syndrome, 129400; Limb-Mammary Syndrome; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Adult Syndrome