BRIDGE_SPEED_NEURO_20170705
Gene: TRPV4

TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 13 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Activating; All missense/in frame
Created: 28 Jul 2017, 10:55 a.m.

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

Publications

25529582

Mode of pathogenicity

Created: 2 Aug 2017, 8 p.m.

Panel version: 0.191

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Brachyolmia type 3, 113500
Spondylometaphyseal dysplasia, Kozlowski type, 184252
Metatropic dysplasia, 156530
Hereditary motor and sensory neuropathy, type IIc, 606071
Scapuloperoneal spinal
muscular atrophy, 181405
[Sodium serum level QTL 1], 613508
Parastremmatic dwarfism, 168400
SED, Maroteaux type, 184095
Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Digital arthropathy-brachydactyly, familial, 606835

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TRPV4 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source