Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb disorders

Gene: TRPV4

Green List (high evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

Genomics England clinical team notes - Agree with green rating. Agree this phenotype only (also presents as short limb dwarfism).
Created: 9 Sep 2018, 5:59 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Three cases/families reported in PMID: 21964574 for digital arthropathy-brachydactyly. This gene is green on the Unexplained skeletal dysplasia gene panel (version 1.99).
Created: 9 Apr 2018, 4:05 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Digital arthropathy-brachydactyly, familial 606835
OMIM
605427
Clinvar variants
Variants in TRPV4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TRPV4 were set to 21964574

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV4 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

TRPV4 was created by Ellen McDonagh