KANK1
Homo sapiens
Gene Name: KN motif and ankyrin repeat domains 1
Aliases: RP11-130C19.4, ANKRD15, CPSQ2, KANK
Chromosome No: 9
Chromosome Band: 9p24.3
Genetic Category: Rare single gene variant-Rare single gene variant/multigenic CNV
Aliases: RP11-130C19.4, ANKRD15, CPSQ2, KANK
Chromosome No: 9
Chromosome Band: 9p24.3
Genetic Category: Rare single gene variant-Rare single gene variant/multigenic CNV
Summary Statistics:
ASD Reports: 12
Recent Reports: 1
Annotated variants: 19
Associated CNVs: 13
Evidence score: 2
ASD Reports: 12
Recent Reports: 1
Annotated variants: 19
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Paternally-inherited deletions in the KANK1 gene have been identified in a male proband with ASD, intellectual disability, and motor and speech delays (Vanzo et al., 2013), as well as in nine affected children from a four-generation family presenting with cerebral palsy, quadriplegia, and intellectual disability (Lerer et al., 2005).
Molecular Function
The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Familial KANK1 deletion that does not follow expected imprinting pattern.
ASD
ID
Negative Association
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.
ASD, DD, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Brain abnormalities, hypotonia
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.
ID
Cerebral palsy
Support
Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
ASD, DD
ADHD
Recent Recommendation
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
ASD
