Hereditary neuropathy
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.Created: 9 May 2019, 5 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on list classification: Added by a reviewer and rated green by a second reviewer. More than 3 family reports, and 3 different variants reported in OMIM for association with neuropathy, hereditary, with or without macular degeneration.Created: 6 May 2016, 8:37 a.m.
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
Source NHS GMS was added to FBLN5.
Source London North GLH was added to FBLN5. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
FBLN5 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
FBLN5 was created by MReilly-925