1. Genes and Genomic Entities
  2. BRAT1

BRAT1

BRCA1 associated ATM activator 1
OMIM: 614506, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green BRAT1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.196
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • PAGE DD-Gene2Phenotype
Phenotypes
  • LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
Green BRAT1 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498
    Green BRAT1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.195
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review 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
    Green BRAT1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.400
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME