Skeletal dysplasia
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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

TRPV4 group of SD, green - many variant with many phenotypes; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TRPV4; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 9:53 a.m.

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:14 p.m.

Created: 27 Jul 2016, 9:53 a.m.

Panel version: 0.704

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:09 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

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

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Brachyolmia type 3 113500; Hereditary motor and sensory neuropathy, type IIc 606071; Digital arthropathy-brachydactyly, familial 606835; SED, Maroteaux type 184095; Parastremmatic dwarfism 168400; Metatropic dysplasia 156530; Scapuloperoneal spinal muscular atrophy 181405; Spinal muscular atrophy, distal, congenital nonprogressive 600175; Spondylometaphyseal dysplasia, Kozlowski type 184252 for gene: TRPV4

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TRPV4. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4