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Hereditary neuropathy v1.80 | LRSAM1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | LRSAM1 | Louise Daugherty commented on gene: LRSAM1: 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 | LRSAM1 | Louise Daugherty commented on gene: LRSAM1: 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 | LRSAM1 |
Louise Daugherty Added phenotypes Charcot Marie Toothe disease, axonal, type 2P, 614436 for gene: LRSAM1 Publications for gene LRSAM1 were changed from to 22781092; 28335037 |
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Hereditary neuropathy v1.58 | LRSAM1 | Natalie Forrester reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22781092, 28335037; Phenotypes: Charcot Marie Toothe disease, axonal, type 2P, 614436; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | LRSAM1 | Louise Daugherty Source South West GLH was added to LRSAM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | LRSAM1 | Louise Daugherty reviewed gene: LRSAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | LRSAM1 | James Polke reviewed gene: LRSAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | LRSAM1 | Louise Daugherty Source NHS GMS was added to LRSAM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | LRSAM1 |
Louise Daugherty Source London North GLH was added to LRSAM1. Rating Changed from Green List (high evidence) to Green List (high evidence) |