Motor Neurone Disease
Gene: TRPV4

TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Congenital onset, better included in the Peripheral Neuropathy panels.
Created: 28 Sep 2020, 4:25 a.m. | Last Modified: 28 Sep 2020, 4:25 a.m.

Panel Version: 0.78

Created: 28 Sep 2020, 4:25 a.m.
Last Modified: 28 Sep 2020, 4:25 a.m.
Panel version: 0.78

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

SMA is a motor neuron disease
Sources: Expert list
Created: 16 Jan 2020, 3:40 a.m.

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

Phenotypes
Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175

Created: 16 Jan 2020, 3:40 a.m.

Panel version: Imported from Amyotrophic Lateral Sclerosis and Motor Neuron Disease panel version 0.58

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert list
Melbourne Genomics Health Alliance Complex Neurology Flagship
Victorian Clinical Genetics Services

Phenotypes

Spinal muscular atrophy, distal, congenital nonprogressive, 600175

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

None

Panels with this gene