Research panel - Severe Paediatric Disorders
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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TRPV4; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Avascular necrosis of femoral head, primary, 2, 617383 (3) | Brachyolmia type 3, 113500 (3) | Digital arthropathy-brachydactyly, familial, 606835 (3) | Hereditary motor and sensory neuropathy, type IIc, 606071 (3) | Metatropic dysplasia, 156530 (3) | Parastremmatic dwarfism, 168400 (3) | SED, Maroteaux type, 184095 (3) | Scapuloperoneal spinal muscular atrophy, 181405 (3) | [Sodium serum level QTL 1], 613508 (3) | Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3) | Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | ND | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Digital arthropathy-brachydactyly, familial, 606835
Metatropic dysplasia, 156530
Spinal muscular atrophy, distal, congenital nonprogressive, 600175
Brachyolmia type 3, 113500
Hereditary motor and sensory neuropathy, type IIc, 606071
Scapuloperoneal spinal muscular atrophy, 181405
[Sodium serum level QTL 1], 613508
Spondylometaphyseal dysplasia, Kozlowski type, 184252
SED, Maroteaux type, 184095
?Avascular necrosis of femoral head, primary, 2, 617383
Parastremmatic dwarfism, 168400

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

None

Publications

30847515

Panels with this gene