Genetic epilepsy syndromesRegion: ISCA-46295-Loss
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
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, 2:45 p.m. | Last Modified: 15 Aug 2019, 2:45 p.m.
Panel Version: 1.239
Triplosensitivity Score for ISCA-46295-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-46295-Loss.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-46295-Loss was added Region: ISCA-46295-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350 Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy