Cerebral Palsy
Gene: BRAT1EnsemblGeneIds (GRCh38): ENSG00000106009
EnsemblGeneIds (GRCh37): ENSG00000106009
OMIM: 614506, Gene2Phenotype
BRAT1 is in 11 panels
1 review
Luisa Weiss (University of Adelaide)
Biallelic BRAT1 mutations cause a neurodevelopmental phenotype with evidence of marked genotype–phenotype correlation: homozygous null variants result in a severe phenotype, whereas compound heterozygosity for null/hypomorphic variants is associated with a milder phenotype. In one study one patient with homozygous hypomorphic variants was diagnosed as a congenital cerebral palsy due to spastic paraplegia.
Sources: LiteratureCreated: 22 May 2023, 11:52 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056; neonatal lethal rigidity and multifocal seizure syndrome MIM#614498
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056
- neonatal lethal rigidity and multifocal seizure syndrome MIM#614498
- OMIM
- 614506
- Clinvar variants
- Variants in BRAT1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brat1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: brat1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: BRAT1 was added gene: BRAT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRAT1 were set to 29997391 Phenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures MIM#618056; neonatal lethal rigidity and multifocal seizure syndrome MIM#614498 Review for gene: BRAT1 was set to AMBER