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Hereditary neuropathy v1.456 FBLN5 Arina Puzriakova Phenotypes for gene: FBLN5 were changed from to Charcot-Marie-Tooth disease, demyelinating, type 1H, OMIM:619764; Neuropathy, hereditary, with or without age-related macular degeneration, OMIM:608895
Hereditary neuropathy v1.80 FBLN5 Louise Daugherty Deleted their comment
Hereditary neuropathy v1.80 FBLN5 Louise Daugherty commented on gene: FBLN5: 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 v1.55 FBLN5 Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.52 FBLN5 James Polke reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary neuropathy v1.51 FBLN5 Louise Daugherty Source NHS GMS was added to FBLN5.
Hereditary neuropathy v1.50 FBLN5 Louise Daugherty Source London North GLH was added to FBLN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)