Non-syndromic familial congenital anorectal malformations

Gene: TP63

Red List (low evidence)

TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 13 panels

1 review

Eleanor Williams (Genomics England Curator)

This gene was added as a candidate gene to the panel due to a report in Su et al 2013 (PMID: 23736768) describing anorectal malformation associated with a mutation in the P63 gene in a Chinese family with split hand-foot malformation. Affected individuals were found to have an Arg227Gln P63 gene mutation. However the same variant is in Clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/30348/ associated with Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 so not clear that the variant is associated with anorectal malformation rather than ectrodactyly.
Created: 4 Aug 2018, 10:48 p.m.

History Filter Activity

8 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: This gene was added as a candi

3 Aug 2018, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

TP63 was added to Non-syndromic familial congenital anorectal malformations panel. Sources: Literature

3 Aug 2018, Gel status: 1

Created

Eleanor Williams (Genomics England Curator)

TP63 was created by Eleanor Williams