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  2. Epidermolysis bullosa and congenital skin fragility
  3. TRPV3
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Epidermolysis bullosa and congenital skin fragility

Gene: TRPV3

Red List (low evidence)
TRPV3 (transient receptor potential cation channel subfamily V member 3)
EnsemblGeneIds (GRCh38): ENSG00000167723
EnsemblGeneIds (GRCh37): ENSG00000167723
OMIM: 607066, Gene2Phenotype
TRPV3 is in 8 panels

1 review

David Kelsell (Queen Mary University of London)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Olmsted syndrome, 614594; superficial peeling of the skin

Created: 12 Dec 2016, 11:51 a.m.

Panel version: Imported from Peeling skin syndrome panel version 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • superficial peeling of the skin
  • Olmsted syndrome, 614594
OMIM
607066
Clinvar variants
Variants in TRPV3
Penetrance
None
Panels with this gene

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: TRPV3 was added gene: TRPV3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Red Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV3 were set to superficial peeling of the skin; Olmsted syndrome, 614594