Fetal anomalies
Gene: TRPV3

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

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for OLMSTED SYNDROME
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

OLMSTED SYNDROME

OMIM

607066

Clinvar variants

Variants in TRPV3

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: TRPV3 was added gene: TRPV3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME

Fetal anomalies Gene: TRPV3