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Prepair 1000+

Gene: BRAT1

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

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

RMFSL: Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life. More than 5 unrelated families reported.

Neurodevelopmental disorder with cerebellar atrophy, with or without seizures: at least 4 families reported with this milder disorder, which typically has onset in infancy. The two disorders likely represent a continuum.

Both disorders associated with this gene have microcephaly as a feature. At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Created: 10 Oct 2024, 11:46 p.m. | Last Modified: 10 Oct 2024, 11:46 p.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056

Publications

Created: 10 Oct 2024, 11:46 p.m.
Last Modified: 10 Oct 2024, 11:46 p.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498
  • Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
OMIM
614506
Clinvar variants
Variants in BRAT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: brat1 has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056

11 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BRAT1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) for gene: BRAT1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BRAT1 was added gene: BRAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)