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  2. Hereditary Neuropathy_CMT - isolated
  3. TRPV4
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Hereditary Neuropathy_CMT - isolated

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 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with multiple skeletal and neurological phenotypes.
Created: 11 May 2021, 10:49 a.m. | Last Modified: 11 May 2021, 10:49 a.m.
Panel Version: 0.151

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175

Created: 11 May 2021, 10:49 a.m.
Last Modified: 11 May 2021, 10:49 a.m.
Panel version: 0.151

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN, dHMN/dSMA
  • Hereditary motor and sensory neuropathy, type IIc, MIM# 606071
  • Neuronopathy, distal hereditary motor, type VIII, MIM# 600175
OMIM
605427
Clinvar variants
Variants in TRPV4
Penetrance
None
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpv4 has been classified as Green List (High Evidence).

11 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRPV4 were changed from HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071 to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175

11 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRPV4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: TRPV4 was added gene: TRPV4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPV4 were set to HMSN, dHMN/dSMA; Hereditary motor and sensory neuropathy, type IIc, 606071