Progressive Myoclonic Epilepsy
Gene: BRAT1

BRAT1 (BRCA1 associated ATM activator 1)
EnsemblGeneIds (GRCh38): ENSG00000106009
EnsemblGeneIds (GRCh37): ENSG00000106009
OMIM: 614506, Gene2Phenotype
BRAT1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: Expert list
Created: 24 Nov 2019, 2:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056

Publications

Created: 24 Nov 2019, 2:48 a.m.

Panel version: Imported from Genetic Epilepsy panel version Imported from Intellectual Disability syndromic and nonsyndromic_VCGS panel version 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Royal Melbourne Hospital
Expert Review Green
Expert Review Green
Expert list
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Rigidity and multifocal seizure syndrome, lethal neonatal 614498

OMIM

614506

Clinvar variants

Variants in BRAT1

Penetrance

None

Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: BRAT1 was added gene: BRAT1 was added to Progressive Myoclonic Epilepsy_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal 614498

Progressive Myoclonic Epilepsy Gene: BRAT1