Arthrogryposis
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

Alice Gardham (Genomics England)

Green List (high evidence)

Arthrogryposis seen in distal SMA and allelic disorder metatropic dysplasia
Created: 22 Dec 2016, 2:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, distal, congenital nonprogressive 600175; Metatropic dysplasia 156530

Publications

Created: 22 Dec 2016, 2:43 p.m.

Panel version: 1.95

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
UKGTN
Expert list

Phenotypes

Spinal muscular atrophy, distal, congenital nonprogressive 600175
Metatropic dysplasia 156530

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4