Hereditary neuropathy
Region: ISCA-37436-Loss17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Loss
Genomic coordinates updated based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 70-80% of Charcot-Marie-Tooth type 1A (CMT1A) cases associated with duplications in this region.Created: 2 Feb 2023, 3:22 p.m. | Last Modified: 2 Feb 2023, 3:22 p.m.
Panel Version: 1.458
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:33 p.m. | Last Modified: 16 Mar 2022, 1:33 p.m.
Panel Version: 1.442
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 deletionCreated: 29 Apr 2019, 10:03 a.m.
GRCh38 position for ISCA-37436-Loss was changed from 14194598-15567587 to 14194598-15519638.
Required Overlap Percentage for ISCA-37436-Loss was changed from 80 to 60.
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