Genetic epilepsy syndromesRegion: ISCA-46290-Gain
Xp11.22p11.23 recurrent region (includes SHROOM4) 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.
Created: 15 Aug 2019, 2:45 p.m. | Last Modified: 15 Aug 2019, 2:45 p.m.
Panel Version: 1.239
Haploinsufficiency Score for ISCA-46290-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-46290-Gain.
11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.
Region: ISCA-46290-Gain was added Region: ISCA-46290-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46290-Gain were set to 25425167; 19716111; 21418194 Phenotypes for Region: ISCA-46290-Gain were set to Idiopathic mental retardation, speech delay, and a peculiar electroencephalographic (EEG) pattern in childhood. Autism and epilepsy, severe intellectual disability and dysmorphic facial features. Moderate to severe intellectual disability, early onset of puberty, language impairment, and age related epileptic syndromes such as West syndrome and focal epilepsy with activation during sleep evolving in some patients to continuous spikes-and-waves during slow sleep; 300801