Human Gene Module / Chromosome 11 / BRSK2

BRSK2BR serine/threonine kinase 2

Score
-
No Rating
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
11 / 0
Aliases
BRSK2, C11orf7,  PEN11B,  SAD1,  SADA,  STK29
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation, Syndromic
Chromosome Band
11p15.5
Associated Disorders
-
Relevance to Autism

A de novo loss-of-function variant in the BRSK2 gene was identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014), while a de novo in-frame deletion variant in this gene was observed in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). Hiatt et al., 2019 identified nine individuals with rare heterozygous variants in the BRSK2 gene that presented with a neurodevelopmental disorder characterized by speech delay, intellectual disability, motor delay, autism, and behavioral abnormalities.

Molecular Function

Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion.

Reports related to BRSK2 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Synaptic, transcriptional and chromatin genes disrupted in autism. De Rubeis S , et al. (2014) Yes -
2 Support The contribution of de novo coding mutations to autism spectrum disorder. Iossifov I , et al. (2014) Yes -
3 Recent Recommendation Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Hiatt SM , et al. (2019) Yes Speech delay, motor delay, developmental regressio
Rare Variants   (11)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - splice_site_variant De novo - - 25363760 De Rubeis S , et al. (2014)
- - inframe_deletion De novo - Simplex 25363768 Iossifov I , et al. (2014)
c.730C>T p.Gln244Ter stop_gained De novo - - 30879638 Hiatt SM , et al. (2019)
c.1861C>T p.Arg621Cys missense_variant Unknown - - 30879638 Hiatt SM , et al. (2019)
c.273-1G>A p.? splice_site_variant De novo - Simplex 30879638 Hiatt SM , et al. (2019)
c.530+1G>A p.? splice_site_variant De novo - Simplex 30879638 Hiatt SM , et al. (2019)
c.194G>A p.Arg65Gln missense_variant De novo - Simplex 30879638 Hiatt SM , et al. (2019)
c.635G>A p.Gly212Glu missense_variant De novo - Simplex 30879638 Hiatt SM , et al. (2019)
c.1281_1287+5del p.? splice_site_variant Unknown - Unknown 30879638 Hiatt SM , et al. (2019)
c.1395_1396del p.Ser466GlnfsTer83 frameshift_variant De novo - Simplex 30879638 Hiatt SM , et al. (2019)
c.1532_1533del p.Glu511ValfsTer38 frameshift_variant Unknown Not maternal - 30879638 Hiatt SM , et al. (2019)
Common Variants  

No common variants reported.

CNVs associated with BRSK2(1 CNVs)
11p15.5 20 Deletion-Duplication 32  /  68
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