Genes in panel

Hereditary neuropathy

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 15 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Multiple C5s in Bristol with specific phenotype including vocal cord involvement. Also well established from looking at HGMD. PubMed: 20037586 - Trpv4-knockout mice show sensorineural hearing loss and impairment of bladder voiding, suggesting that some clinical manifestations of HMSN2C may be due to loss of TRPV4 function as well as toxic gain of function. One reportedly HOMOZYGOUS loss-of-function variant in dHMN (https://www.biorxiv.org/content/10.1101/402388v2)
Created: 29 Apr 2019, 12:30 p.m.

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

Phenotypes
other disorders; Hereditary motor and sensory neuropathy, type IIc, 606071

Publications

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

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.
Comment on publications: corrected formating
Created: 30 Nov 2017, 10:51 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Publications

Ellen McDonagh (Genomics England Curator)

This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of dHMN.
Created: 10 Jun 2016, 1:50 p.m.
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 1:10 p.m.
Comment on mode of pathogenicity: Missense variants are relevant, and these will be reported in tier 2.
Created: 10 May 2016, 11:29 a.m.
Comment on list classification: Multiple reviewers agreeing this should be green, and diagnostically tested for.
Created: 10 May 2016, 11:24 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

null mutations have been shown to be benign polymorphisms
Created: 9 Dec 2015, 8:48 a.m.

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

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

null mutations have been shown to be benign polymorphisms
Created: 8 Dec 2015, 3:05 p.m.

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

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary motor and sensory neuropathy, type IIc, 606071
OMIM
605427
Clinvar variants
Variants in TRPV4
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071 to Hereditary motor and sensory neuropathy, type IIc, 606071

29 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071; other disorders; other disorders; others to Hereditary motor and sensory neuropathy, type IIc, 606071

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary motor and sensory neuropathy, type IIc, 606071; other disorders for gene: TRPV4 Publications for gene TRPV4 were changed from 25900305; 26392352 to 20037586

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to TRPV4.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TRPV4.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to TRPV4. Rating Changed from Green List (high evidence) to Green List (high evidence)

30 Nov 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TRPV4 were set to 25900305; 26392352

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TRPV4 were set to PMID: 25900305; PMID: 26392352

10 May 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for TRPV4 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TRPV4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRPV4 was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert list,UKGTN,Emory Genetics Laboratory