BRAT1

BRCA1 associated ATM activator 1
OMIM: 614506
PanelMode of inheritanceDetails
3 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rigidity and multifocal seizure syndrome, lethal neonatal 614498
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME