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| Hereditary neuropathy v1.80 | DNM2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | DNM2 | Louise Daugherty commented on gene: DNM2: 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 | DNM2 | Louise Daugherty commented on gene: DNM2: 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 | DNM2 |
Louise Daugherty Added phenotypes Charcot Marie Tooth disease, dominant intermediate B, 606482; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth, Intermediate for gene: DNM2 Publications for gene DNM2 were changed from to 15731758 |
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| Hereditary neuropathy v1.58 | DNM2 | Natalie Forrester reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15731758; Phenotypes: Charcot-Marie-Tooth, Intermediate , Charcot Marie Tooth disease, dominant intermediate B, 606482, Charcot Marie Tooth disease, axonal, type 2M, 606482, Myopathy, centronuclear, 160150, Lethal congenital contracture syndrome 5, 615368; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | DNM2 | Louise Daugherty Source South West GLH was added to DNM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | DNM2 | Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | DNM2 | James Polke reviewed gene: DNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | DNM2 | Louise Daugherty Source NHS GMS was added to DNM2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | DNM2 |
Louise Daugherty Source London North GLH was added to DNM2. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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