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Hereditary neuropathy v1.80 | NEFL | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | NEFL | Louise Daugherty commented on gene: NEFL: 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 | NEFL | Louise Daugherty commented on gene: NEFL: 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 | NEFL |
Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734; Charcot-Marie-Tooth disease, dominant intermediate G, 617882 for gene: NEFL Publications for gene NEFL were changed from to 23618875; 10841809 |
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Hereditary neuropathy v1.58 | NEFL | Natalie Forrester reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10841809, 23618875; Phenotypes: Charcot Marie Tooth disease, type 2E, 607684, Charcot Marie Tooth disease, type 1F, 607734, Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | NEFL | Louise Daugherty Source South West GLH was added to NEFL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | NEFL | Louise Daugherty reviewed gene: NEFL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | NEFL | James Polke reviewed gene: NEFL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | NEFL | Louise Daugherty Source NHS GMS was added to NEFL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | NEFL |
Louise Daugherty Source London North GLH was added to NEFL. Rating Changed from Green List (high evidence) to Green List (high evidence) |