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Adult onset neurodegenerative disorder

Gene: TRPV4

No list
TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 14 panels

1 review

Oliver Ziff (University College London)

Green List (high evidence)

Causes scapuloperoneal SMA and dHMN. The progressive motor weakness frequently mimics LMN-predominant MND, necessitating upfront R460.1 screening. Inclusion prevents sequential WGS reanalysis on R460.1 requests.
Sources: Literature, Expert Review
Created: 22 May 2026, 1:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary motor and sensory neuropathy, type IIc, 606071

Publications

Mode of pathogenicity
Other

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

Created: 22 May 2026, 1:15 p.m.

Panel version: 9.1

History Filter Activity

22 May 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Oliver Ziff (University College London)

gene: TRPV4 was added gene: TRPV4 was added to Adult onset neurodegenerative disorder. Sources: Literature,Expert Review Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV4 were set to 20037586 Phenotypes for gene: TRPV4 were set to Hereditary motor and sensory neuropathy, type IIc, 606071 Penetrance for gene: TRPV4 were set to Complete Mode of pathogenicity for gene: TRPV4 was set to Other Review for gene: TRPV4 was set to GREEN gene: TRPV4 was marked as current diagnostic