Activity
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12 actions
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| Paroxysmal central nervous system disorders v0.151 | TRPV4 | Rebecca Foulger Marked gene: TRPV4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.151 | TRPV4 | Rebecca Foulger Gene: trpv4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.151 | TRPV4 | Rebecca Foulger 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | TRPV4 | Rebecca Foulger Source NHS GMS was added to TRPV4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | TRPV4 | Rebecca Foulger commented on 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | TRPV4 | James Polke reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | TRPV4 | Rebecca Foulger Source London North GLH was added to TRPV4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | TRPV4 | Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | TRPV4 | Tracy Lester reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, 606071, [also many others]; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | TRPV4 | Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPV4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | TRPV4 | Ellen McDonagh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | TRPV4 |
Ellen McDonagh 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 |
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