Cerebellar and Pontocerebellar Hypoplasia
Gene: BRAT1EnsemblGeneIds (GRCh38): ENSG00000106009
EnsemblGeneIds (GRCh37): ENSG00000106009
OMIM: 614506, Gene2Phenotype
BRAT1 is in 11 panels
1 review
Chirag Patel (Genetic Health Queensland)
At least 4 individuals reported from unrelated families and bi-allelic variants in this gene.
Sources: LiteratureCreated: 26 Jan 2022, 9:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
- 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 Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: brat1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: BRAT1 was added gene: BRAT1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRAT1 were set to PMID: 26483087, 26494257, 27282546 Phenotypes for gene: BRAT1 were set to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Review for gene: BRAT1 was set to GREEN