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Hereditary neuropathy v1.80 | GJB1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | GJB1 | Louise Daugherty commented on gene: GJB1: 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 v1.63 | GJB1 | Louise Daugherty commented on gene: GJB1: 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 | GJB1 |
Louise Daugherty Added phenotypes Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800; Charcot-Marie-Tooth, X-linked for gene: GJB1 Publications for gene GJB1 were changed from to 8266101 |
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Hereditary neuropathy v1.58 | GJB1 | Natalie Forrester reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8266101; Phenotypes: Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 , Charcot-Marie-Tooth, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | GJB1 | Louise Daugherty Source South West GLH was added to GJB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | GJB1 | Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | GJB1 | James Polke reviewed gene: GJB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | GJB1 | Louise Daugherty Source NHS GMS was added to GJB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | GJB1 |
Louise Daugherty Source London North GLH was added to GJB1. Rating Changed from Green List (high evidence) to Green List (high evidence) |