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| Hereditary neuropathy v1.80 | MPZ | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | MPZ | Louise Daugherty commented on gene: MPZ: 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 | MPZ | Louise Daugherty commented on gene: MPZ: 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 | MPZ | Louise Daugherty Added phenotypes Charcot Marie Tooth disease, type 2I, 607677; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2J, 607736; Roussy Levy syndrome, 180800; Charcot Marie Tooth disease, dominant intermediate D, 607791; Dejerine Sottas disease, 145900; Neuropathy, congenital hypomyelinating, 605253 for gene: MPZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.58 | MPZ | Natalie Forrester reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth disease, type 1B, 118200, Dejerine Sottas disease, 145900, Neuropathy, congenital hypomyelinating, 605253, Charcot Marie Tooth disease, type 2J, 607736, Roussy Levy syndrome, 180800, Charcot Marie Tooth disease, type 2I, 607677, Charcot Marie Tooth disease, dominant intermediate D, 607791; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | MPZ | Louise Daugherty Source South West GLH was added to MPZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | MPZ | Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | MPZ | James Polke reviewed gene: MPZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | MPZ | Louise Daugherty Source NHS GMS was added to MPZ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | MPZ |
Louise Daugherty Source London North GLH was added to MPZ. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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