Epidermolysis bullosa and congenital skin fragility
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
-
- Expert Review Red
- Phenotypes
-
- Hay-Wells syndrome, 106260
- Red, cracking, peeling skin at birth
- OMIM
- 603273
- Clinvar variants
- Variants in TP63
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- DDG2P
- Primary ovarian insufficiency
- Intellectual disability
- Ectodermal dysplasia
- Clefting
- Epidermolysis bullosa and congenital skin fragility
- Amelogenesis imperfecta
- Ectodermal dysplasia without a known gene mutation
- Mosaic skin disorders - deep sequencing
- Peeling skin syndrome
- Fetal anomalies
- Skeletal dysplasia
History Filter Activity
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TP63 was added gene: TP63 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TP63 were set to Hay-Wells syndrome, 106260; Red, cracking, peeling skin at birth