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Autism

Gene: BRSK1

Red List (low evidence)
BRSK1 (BR serine/threonine kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000160469
EnsemblGeneIds (GRCh37): ENSG00000160469
OMIM: 609235, Gene2Phenotype
BRSK1 is in 2 panels

1 review

Arina Puzriakova (Genomics England Curator)

Suratanee and Plaimas 2023 (https://doi.org/10.3390/app13158980) also reference BRSK1 as a new ASD candidate gene, highlighted in context of statistically significant enrichment of GO terms of ASD associated genes, in this case ‘Protein Serine/Threonine Kinase Activity’ (GO:0004674)
Created: 10 Jun 2025, 9:33 a.m. | Last Modified: 10 Jun 2025, 9:33 a.m.
Panel Version: 0.37
Possible candidate gene for ASD.

PMID: 35982159 (2022) reports de novo coding variants in 5 unrelated individuals with ASD or other neurodevelopmental disorders. 4/5 affected individuals harboured missense or synonymous variants. This cohort also includes 4 unaffected individuals with missense or synonymous variants.

Overall there is currently not enough evidence to conclusively implicate this gene in ASD.
Sources: Literature
Created: 23 Apr 2025, 2:41 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Autism spectrum disorder

Publications

Created: 23 Apr 2025, 2:41 p.m.

Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Autism spectrum disorder
OMIM
609235
Clinvar variants
Variants in BRSK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: BRSK1 was added gene: BRSK1 was added to Autism. Sources: Literature Mode of inheritance for gene: BRSK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: BRSK1 were set to 35982159 Phenotypes for gene: BRSK1 were set to Autism spectrum disorder