Ectodermal dysplasia without a known gene mutation
Gene: TP63

TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

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.

Created: 25 Jul 2016, 8:51 a.m.

Panel version: 0.80

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

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

Complete

Panels with this gene

History Filter Activity

31 Aug 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TP63 were changed from Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Split-hand/foot malformation 4, 605289; Hay-Wells syndrome, 106260; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400; Orofacial cleft 8, 129400; Orofac; Adult Syndrome; Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate; Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3; Limb-Mammary Syndrome; Rapp-Hodgkin Syndrome; Split-Hand/foot Malformation 4; ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 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

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

25 Jul 2016, Gel status: 4