ZWILCH
Homo sapiens
Gene Name: zwilchkinetochore protein
Aliases: KNTC1AP, hZwilch
Chromosome No: 15
Chromosome Band: 15q22.31
Genetic Category: Rare single gene variant-
Aliases: KNTC1AP, hZwilch
Chromosome No: 15
Chromosome Band: 15q22.31
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 3
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 3
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
This gene was identified as a novel ASD candidate gene in Gonzalez-Mantilla et al., 2016 based on the presence of two potentially pathogenic loss-of-function variants in ASD cases (a de novo frameshift variant in an SSC proband in Iossifov et al., 2014, and a de novo frameshift variant in an ASD proband from a multiplex family in Yuen et al., 2015).
Molecular Function
Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Recent Recommendation
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN798R001
frameshift_variant
c.1364_1365insG
p.Asn456LysfsTer3
De novo
Simplex
GEN798R002
frameshift_variant
c.344_345insC
p.Ser116PhefsTer7
De novo
Multiplex
Common
No Common Variants Available
