Early onset or syndromic epilepsy
Gene: BRAT1
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 and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR neurodevelopmental disorder with cerebellar atrophy with/without seizures and lethal neonatal rigidity and multifocal seizure syndrome. hom and compound het variants reported in several families (OMIM and HGMDPro). No functional work undertaken.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056
Publications
Gene originally listed on Intellectual disability panel V2.42Created: 9 Apr 2018, 3:44 p.m.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 4 unrelated cases.Created: 9 Apr 2018, 3:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Publications
Source Wessex and West Midlands GLH was added to BRAT1.
Source NHS GMS was added to BRAT1.
Sarah Leigh: Associated with relevant pheno
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to BRAT1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to BRAT1. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
BRAT1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
BRAT1 was created by Sarah Leigh