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Hereditary neuropathy v1.80 | TRPV4 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | TRPV4 | Louise Daugherty commented on gene: TRPV4: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.70 | TRPV4 | Louise Daugherty Phenotypes for gene: TRPV4 were changed from Hereditary motor and sensory neuropathy, type IIc, 606071 to Hereditary motor and sensory neuropathy, type IIc, 606071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.64 | TRPV4 | Louise Daugherty 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.63 | TRPV4 | Louise Daugherty commented on gene: TRPV4: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.60 | TRPV4 |
Louise Daugherty 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 |
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Hereditary neuropathy v1.58 | TRPV4 | Natalie Forrester reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: 20037586; Phenotypes: other disorders, Hereditary motor and sensory neuropathy, type IIc, 606071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | TRPV4 | Louise Daugherty Source South West GLH was added to TRPV4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | TRPV4 | Louise Daugherty edited their review of gene: TRPV4: Added comment: Review and rating submitted by James Polke (North Bristol NHS Trust, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | TRPV4 | James Polke reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | TRPV4 | Louise Daugherty Source NHS GMS was added to TRPV4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | TRPV4 |
Louise Daugherty Source London North GLH was added to TRPV4. Rating Changed from Green List (high evidence) to Green List (high evidence) |