BRAT1

BRCA1 associated ATM activator 1
OMIM: 614506, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green BRAT1 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Amber BRAT1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056 neonatal lethal rigidity and multifocal seizure syndrome MIM#614498
Green BRAT1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Green BRAT1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Green BRAT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Green BRAT1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Green BRAT1 in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.19	review	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
Green BRAT1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Green BRAT1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498
Green BRAT1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Green BRAT1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)