CSNK1G1
Homo sapiens
Gene Name: casein kinase 1 gamma 1
Aliases: CK1gamma1
Chromosome No: 15
Chromosome Band: 15q22.31
Genetic Category: Rare single gene variant-Syndromic
Aliases: CK1gamma1
Chromosome No: 15
Chromosome Band: 15q22.31
Genetic Category: Rare single gene variant-Syndromic
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: 3
ASD Reports: 3
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 4
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Gold et al., 2020 presented detailed clinical histories for five individuals with variants in the CSNK1G1 gene (one patient who was previously reported in Martin et al., 2014, and four previously unpublished patients); all five patients presented with developmental delay, and three individuals were reported to have a diagnosis of autism spectrum disorder.
Molecular Function
This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder
DD
ASD, ADHD, epilepsy/seizures
Support
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
DD, epilepsy/seizures
