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Hereditary neuropathy v1.80 | HSPB8 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | HSPB8 | Louise Daugherty commented on gene: HSPB8: 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 | HSPB8 | Louise Daugherty commented on gene: HSPB8: 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 | HSPB8 |
Louise Daugherty Added phenotypes Charcot Marie Tooth disease, axonal, type 2L, 608673; Neuropathy, distal hereditary motor, type IIA, 158590 for gene: HSPB8 Publications for gene HSPB8 were changed from to 28780615; 23389032 |
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Hereditary neuropathy v1.58 | HSPB8 | Natalie Forrester reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 28780615, 23389032; Phenotypes: Charcot Marie Tooth disease, axonal, type 2L, 608673, Neuropathy, distal hereditary motor, type IIA, 158590; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | HSPB8 | Louise Daugherty Source South West GLH was added to HSPB8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | HSPB8 | Louise Daugherty reviewed gene: HSPB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | HSPB8 | James Polke reviewed gene: HSPB8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | HSPB8 | Louise Daugherty Source NHS GMS was added to HSPB8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | HSPB8 |
Louise Daugherty Source London North GLH was added to HSPB8. Rating Changed from Green List (high evidence) to Green List (high evidence) |