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  2. Palmoplantar Keratoderma and Erythrokeratoderma
  3. TRPV3
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: TRPV3

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 6 families reported. Note the T-G transversion (rs786205869) resulting in a Q580P substitution in a Chinese father and son (PMID:25285920, He et al., 2015) is a gain-of-function change.
Created: 12 Aug 2020, 8:11 a.m. | Last Modified: 12 Aug 2020, 8:11 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Olmsted syndrome, MIM# 614594

Publications

Mode of pathogenicity
Other

Created: 12 Aug 2020, 8:11 a.m.
Last Modified: 12 Aug 2020, 8:11 a.m.
Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Olmsted syndrome, MIM# 614594
OMIM
607066
Clinvar variants
Variants in TRPV3
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

12 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpv3 has been classified as Green List (High Evidence).

12 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRPV3 were changed from to Olmsted syndrome, MIM# 614594

12 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPV3 were set to

12 Aug 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TRPV3 was changed from to Other

12 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRPV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPV3 was added gene: TRPV3 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRPV3 was set to Unknown