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Genetic epilepsy syndromes

Gene: BRAT1

Green List (high evidence)

BRAT1 (BRCA1 associated ATM activator 1)
EnsemblGeneIds (GRCh38): ENSG00000106009
EnsemblGeneIds (GRCh37): ENSG00000106009
OMIM: 614506, Gene2Phenotype
BRAT1 is in 4 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene originally listed on Intellectual disability panel V2.42
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal 614498
OMIM
614506
Clinvar variants
Variants in BRAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to BRAT1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to BRAT1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to BRAT1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to BRAT1. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

BRAT1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

9 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

BRAT1 was created by Sarah Leigh