Genetic epilepsy syndromesRegion: ISCA-37493-Loss
1q43q44 terminal region (includes AKT3) 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:28283832. Review Comment: Depienne et al state, demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability.
Created: 15 Aug 2019, 2:44 p.m. | Last Modified: 15 Aug 2019, 2:44 p.m.
Panel Version: 1.239
Triplosensitivity Score for ISCA-37493-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37493-Loss.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-37493-Loss was added Region: ISCA-37493-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713 Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum