Paroxysmal central nervous system disorders
Gene: TRPV4
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
Not a CNS disorderCreated: 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]
Gene: trpv4 has been classified as Red List (Low Evidence).
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
Source NHS GMS was added to TRPV4.
Source London North GLH was added to TRPV4.
Source Wessex and West Midlands GLH was added to TRPV4.
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
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