Genetic epilepsy syndromesRegion: ISCA-37411-Loss
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) 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. Evidence for inclusion: PMID:19289393.
Created: 15 Aug 2019, 2:41 p.m. | Last Modified: 15 Aug 2019, 2:41 p.m.
Panel Version: 1.239
Triplosensitivity Score for ISCA-37411-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37411-Loss.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-37411-Loss was added Region: ISCA-37411-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37411-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37411-Loss were set to 19289393; 19136953; 18278044 Phenotypes for Region: ISCA-37411-Loss were set to PMID: 19289393 incomplete penetrance for developmental delay, mental retardation, or borderline IQ in most and autistic spectrum disorder (6/14), speech delay, aggressiveness, attention deficit hyperactivity disorder, and other behavioural problems; 612001; PMID: 18278044 mental retardation, epilepsy and variable facial and digital dysmorphisms; PMID: 19136953 idiopathic generalized epilepsy without other features previously associated with 15q13.3 microdeletions, such as intellectual disability, autism or schizophrenia