Paroxysmal central nervous system disorders

Gene: TRPV4

Red List (low 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

3 reviews

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

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

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

Phenotypes
Hereditary motor and sensory neuropathy, type IIc, 606071; [also many others]

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Hereditary motor and sensory neuropathy, type IIc, 606071
  • sexual disinhibition
  • confusion
  • apathi
  • impaired memory
  • impaired speech
  • compulsive eating and drinking (or decreased eating)
  • irritability
  • recurrent hypersomnia
  • behavioral disturbances
  • transient symptoms at the end, amnesia, moderate elation and insomnia
  • Monozygotic twins concordant for Kleine-Levin Syndrome
  • altered tactile, gustative, and olphatory perceptions
  • normality between episodes
  • feeling of unreality
  • depression and anxiety
OMIM
605427
Clinvar variants
Variants in TRPV4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trpv4 has been classified as Red List (Low Evidence).

24 Sep 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TRPV4 were changed from sexual disinhibition; confusion; apathi; impaired memory; impaired speech; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; behavioral disturbances; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; altered tactile, gustative, and olphatory perceptions; normality between episodes; feeling of unreality; depression and anxiety to Hereditary motor and sensory neuropathy, type IIc, 606071; sexual disinhibition; confusion; apathi; impaired memory; impaired speech; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; behavioral disturbances; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; altered tactile, gustative, and olphatory perceptions; normality between episodes; feeling of unreality; depression and anxiety

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TRPV4.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TRPV4.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TRPV4.

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety for gene: TRPV4

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TRPV4 was added gene: TRPV4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPV4 were set to 22547884 Phenotypes for gene: TRPV4 were set to sexual disinhibition; apathi; feeling of unreality; impaired memory; impaired speech; altered tactile, gustative, and olphatory perceptions; compulsive eating and drinking (or decreased eating); irritability; recurrent hypersomnia; transient symptoms at the end, amnesia, moderate elation and insomnia; Monozygotic twins concordant for Kleine-Levin Syndrome; confusion; normality between episodes; behavioral disturbances; depression and anxiety