Genetic epilepsy syndromesRegion: ISCA-37415-Loss
16p13.11 recurrent region (includes MYH11) 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:10573006.
Created: 15 Aug 2019, 2:42 p.m. | Last Modified: 15 Aug 2019, 2:42 p.m.
Panel Version: 1.239
Triplosensitivity Score for ISCA-37415-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37415-Loss.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-37415-Loss was added Region: ISCA-37415-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141 Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects