Hereditary neuropathyRegion: ISCA-37436-Loss
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
Green rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment: HNPP common deletion
Created: 29 Apr 2019, 10:03 a.m.
Region: ISCA-37436-Loss was added Region: ISCA-37436-Loss was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37436-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Loss were set to 20301566 Phenotypes for Region: ISCA-37436-Loss were set to 162500; Charcot-Marie-Tooth disease, type 1A; muscle weakness; repeated focal pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop; Neuropathy, recurrent, with pressure palsies; mild to moderate peripheral neuropathy