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Hereditary neuropathy v1.80 DYNC1H1 Louise Daugherty commented on gene: DYNC1H1: 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 v1.72 DYNC1H1 Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600 to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
Hereditary neuropathy v1.71 DYNC1H1 Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; others to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600
Hereditary neuropathy v1.63 DYNC1H1 Louise Daugherty commented on gene: DYNC1H1: 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 DYNC1H1 Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563 for gene: DYNC1H1
Publications for gene DYNC1H1 were changed from PMID: 21820100; PMID: 26392352 to 21820100; 26392352
Hereditary neuropathy v1.58 DYNC1H1 Natalie Forrester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820100, 26392352; Phenotypes: Charcot Marie Tooth disease, axonal, type 20, 614228, Mental retardation, autosomal dominant 13, 614563, Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hereditary neuropathy v1.56 DYNC1H1 Louise Daugherty Source South West GLH was added to DYNC1H1.
Hereditary neuropathy v1.55 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 DYNC1H1 James Polke reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Hereditary neuropathy v1.51 DYNC1H1 Louise Daugherty Source NHS GMS was added to DYNC1H1.
Hereditary neuropathy v1.50 DYNC1H1 Louise Daugherty Source London North GLH was added to DYNC1H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)