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Skeletal dysplasia

Gene: TP63

Green List (high evidence)

TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

17 Dec 2019, Gel status: 3

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