Skeletal dysplasia
Gene: TP63EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The TP63-related disorders comprise six overlapping phenotypes:
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome)
Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome
Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3)
Limb-mammary syndrome
Split-hand/foot malformation type 4 (SHFM4)
Isolated cleft lip/cleft palate (orofacial cleft 8)
Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias.
Well established gene-disease association.Created: 7 Apr 2022, 4:31 a.m. | Last Modified: 7 Apr 2022, 4:31 a.m.
Panel Version: 0.12750
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hay-Wells syndrome 106260
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292
- Limb-mammary syndrome 603543
- Rapp-Hodgkin syndrome 129400
- Orofacial cleft 8 129400
- ULT syndrome 103285
- Split-hand/foot malformation 4 605289
- 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 Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TP63 were set to Hay-Wells syndrome 106260; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 604292; Limb-mammary syndrome 603543; Rapp-Hodgkin syndrome 129400; Orofacial cleft 8 129400; ULT syndrome 103285; Split-hand/foot malformation 4 605289