Peeling skin syndrome
Gene: TP63
TP63 (tumor protein p63)
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000073282
EnsemblGeneIds (GRCh37): ENSG00000073282
OMIM: 603273, Gene2Phenotype
TP63 is in 15 panels
1 review
David Kelsell (Queen Mary University of London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hay-Wells syndrome, 106260; Red, cracking, peeling skin at birth
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Phenotypes
-
- Hay-Wells syndrome, 106260
- Red, cracking, peeling skin at birth
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Ectodermal dysplasia
- Skeletal dysplasia
- Primary ovarian insufficiency
- Clefting
- Epidermolysis bullosa and congenital skin fragility
- Intellectual disability
- Amelogenesis imperfecta
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- DDG2P
- Limb disorders
- Fetal anomalies
History Filter Activity
12 Dec 2016, Gel status: 0
panel promoted to version 1
Rebecca Foulger (Genomics England curator)12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.
8 Dec 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)TP63 was created by rfoulger
8 Dec 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)TP63 was added to Peeling skin syndromepanel. Sources: Other