Genetic epilepsy syndromesRegion: ISCA-37423-Gain
8p23.1 recurrent region (includes GATA4) Gain
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:28533195.
Created: 15 Aug 2019, 2:42 p.m. | Last Modified: 15 Aug 2019, 2:42 p.m.
Panel Version: 1.239
Haploinsufficiency Score for ISCA-37423-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37423-Gain.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-37423-Gain was added Region: ISCA-37423-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203 Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome