Research panel - Severe Paediatric Disorders
Gene: BRAT1

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BRAT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3) | Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:16 p.m.
Last Modified: 20 Feb 2020, 5:16 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

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

OMIM

614506

Clinvar variants

Variants in BRAT1

Penetrance

None

Publications

30847515

Panels with this gene