Hereditary neuropathy
Region: ISCA-37436-Gain17p12 recurrent (HNPP/CMT1A) region (includes PMP22) Gain
Genomic coordinates updated based on ClinGen Region Curation Results (version on 05 Aug 2022) following NHS Genomic Medicine Service approval. Additional comments: About 80% of hereditary neuropathy with liability to pressure palsies (HNPP) cases associated with this recurrent region.Created: 2 Feb 2023, 3:20 p.m. | Last Modified: 2 Feb 2023, 3:21 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, 1:35 p.m. | Last Modified: 16 Mar 2022, 1:35 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: CMT1A common duplicationCreated: 29 Apr 2019, 10:03 a.m.
GRCh38 position for ISCA-37436-Gain was changed from 14194598-15567587 to 14194598-15519638.
Required Overlap Percentage for ISCA-37436-Gain was changed from 80 to 60.
Region: ISCA-37436-Gain was added Region: ISCA-37436-Gain was added to Charcot-Marie-Tooth disease. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37436-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37436-Gain were set to 20301384 Phenotypes for Region: ISCA-37436-Gain were set to 118220; Charcot-Marie-Tooth neuropathy type 1; distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop; hereditary neuropathy