Neurodegenerative disorders, adult onset

Gene: TRPV4

I don't know

TRPV4 is associated with a range of phenotypes including Neuronopathy, distal hereditary motor, autosomal dominant 8 (OMIM:600175, Hereditary motor and sensory neuropathy, type IIc (OMIM:606071), and Scapuloperoneal spinal muscular atrophy (OMIM:181405) (accessed 10/2026).

NHS England review is ongoing to determine whether TRPV4 falls within the intended scope of the adult-onset neurodegenerative disorders panel, based on its diagnostic utility as a potential lower-motor-neuron-predominant MND mimic rather than an established association with adult-onset MND.

Created: 6 Oct 2026, 2:44 p.m. | Last Modified: 6 Oct 2026, 2:44 p.m.

Panel Version: 9.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuronopathy, distal hereditary motor, autosomal dominant 8 (OMIM:600175); Hereditary motor and sensory neuropathy, type IIc (OMIM:606071); Scapuloperoneal spinal muscular atrophy (OMIM:181405)

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

• 20037586

Mode of pathogenicity
Other

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