Amelogenesis imperfecta

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

Rebecca Foulger (Genomics England curator)

PMID:22065540 report a mother and son with split hand-split foot. The son was affected with amelogenesis imperfecta. Mutation analysis showed a heterozygous c.588-2A > C mutation in TP63 in the mother and her son. This is the first report of amelogenesis imperfecta associated with a TP63 mutation.
Created: 12 Jun 2017, 9:13 a.m.

History Filter Activity

2 Feb 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

12 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TP63 was added to Amelogenesis Imperfectapanel. Sources: Literature

12 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TP63 was created by rfoulger