Fetal anomalies
Gene: TP63

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 2:03 p.m.

DDG2P rating in original PAGE list: Confirmed for ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, Confirmed for SPLIT-HAND/FOOT MALFORMATION TYPE 4, Confirmed for ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, Confirmed for NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, Confirmed for ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, Confirmed for ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME and Confirmed for LIMB-MAMMARY SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as LOF for ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3, and listed as Uncertain for SPLIT-HAND/FOOT MALFORMATION TYPE 4, ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE, NON-SYNDROMIC OROFACIAL CLEFT TYPE 8, ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE, ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE and LIMB-MAMMARY SYNDROME.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.161

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

PAGE DD-Gene2Phenotype
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
Orofacial cleft 8, OMIM:618149
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

History Filter Activity

31 Aug 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH 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; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289

8 Nov 2018, Gel status: 4