Genetic epilepsy syndromesRegion: ISCA-37429-Loss
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
90% of people with WHS develop epilepsy, multiple case series to demonstrate this
Created: 7 Oct 2019, 2:18 p.m. | Last Modified: 7 Oct 2019, 2:18 p.m.
Panel Version: 1.352
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Green rating by Alisdair McNeill (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of ISCA-37429-Loss CNV.
Created: 8 Oct 2019, 9:48 a.m. | Last Modified: 8 Oct 2019, 9:51 a.m.
Panel Version: 1.353
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested rating: Green.
Created: 15 Aug 2019, 2:42 p.m. | Last Modified: 15 Aug 2019, 2:42 p.m.
Panel Version: 1.239
Region: isca-37429-loss has been classified as Green List (High Evidence).
Triplosensitivity Score for ISCA-37429-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37429-Loss.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome