Early onset or syndromic epilepsy
Gene: BRAT1

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

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

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

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

Created: 9 Apr 2018, 3:42 p.m.

Panel version: 0.62

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