Kleine-Levin syndrome
Gene: TRPV4

TRPV4 (transient receptor potential cation channel subfamily V member 4)
EnsemblGeneIds (GRCh38): ENSG00000111199
EnsemblGeneIds (GRCh37): ENSG00000111199
OMIM: 605427, Gene2Phenotype
TRPV4 is in 13 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: reformatted phenotype
Created: 30 Nov 2017, 10:58 a.m.

Created: 30 Nov 2017, 10:58 a.m.

Panel version: 1.3

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Potential involvement of TRPV4 in the twins mentioned in PMID 22547884 is from personal communication with the author, Rosa Peraita-Adrados. There is no mention of the genetic variants in this publication
Created: 24 Jan 2017, 2:15 p.m.

Created: 24 Jan 2017, 2:15 p.m.

Panel version: 0.50

Rosa Peraita-Adrados (Sleep and Epilepsy Unit-Clinical Neurophysiology Service. Gregorio Maranon University Hospital. Complutense University of Madrid (UCM).Madrid.Spain.)

Red List (low evidence)

Rosa Peraita-Adrados et al. Monozygotic Twins Affected with Kleine-Levin Syndrome.
Sleep 2012; 35(5):595-6.
Created: 19 Dec 2016, 3:35 p.m.

Transient receptor potential vanilloid (TRPV4) is a brodly expressed Ca(2+) permeable catión channel in the vanilloid subfamily of transient receptor potential channels.
It is activated by warm temperature, lipids downstream of arachidonic acid metabolism, hypoosmolarity, or mechanical stimulation.Mutations in TRPV4 are associated with dominant neuropathies.
Created: 19 Dec 2016, 3:28 p.m.

Mode of inheritance
Unknown

Phenotypes
Monozygotic twins concordant for Kleine-Levin Syndrome; recurrent hypersomnia; behavioral disturbances; compulsive eating and drinking (or decreased eating); sexual disinhibition; irritability; confusion; feeling of unreality; altered tactile, gustative, and olphatory perceptions; apathy; impaired speech; impaired memory; depression and anxiety; transient symptoms at the end: amnesia; moderate elation and insomnia; normality between episodes: HLA typing heterozygosity; DQB1*06:01; VARICOCELE.

Publications

PMID: 22547884

Created: 8 Jan 2017, 11:10 a.m.

Panel version: 0.50

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red

Phenotypes

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

OMIM

605427

Clinvar variants

Variants in TRPV4

Penetrance

Complete

Publications

22547884

Panels with this gene

History Filter Activity

30 Nov 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

1 Feb 2017, Gel status: 1