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Hereditary neuropathy v1.80 | PLEKHG5 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.80 | PLEKHG5 | Louise Daugherty commented on gene: PLEKHG5: 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 | PLEKHG5 | Louise Daugherty commented on gene: PLEKHG5: 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 | PLEKHG5 |
Louise Daugherty Added phenotypes Charcot Marie Tooth disease, recessive intermediate C, 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 for gene: PLEKHG5 Publications for gene PLEKHG5 were changed from to 23844677; 17564964 |
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Hereditary neuropathy v1.58 | PLEKHG5 | Natalie Forrester reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23844677, 17564964; Phenotypes: Charcot Marie Tooth disease, recessive intermediate C, 615376, Spinal muscular atrophy, distal, autosomal recessive, 4, 611067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.56 | PLEKHG5 | Louise Daugherty Source South West GLH was added to PLEKHG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.55 | PLEKHG5 | Louise Daugherty reviewed gene: PLEKHG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.52 | PLEKHG5 | James Polke reviewed gene: PLEKHG5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.51 | PLEKHG5 | Louise Daugherty Source NHS GMS was added to PLEKHG5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hereditary neuropathy v1.50 | PLEKHG5 |
Louise Daugherty Source London North GLH was added to PLEKHG5. Rating Changed from Green List (high evidence) to Green List (high evidence) |