MYO5C
Homo sapiens
Gene Name: myosin VC
Aliases:
Chromosome No: 15
Chromosome Band: 15q21.2
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 15
Chromosome Band: 15q21.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 5
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Two de novo missense variants in the MYO5C gene were identified in ASD probands from the Simons Simplex Collection in Iossifov et al., 2014; one of these variants was later determined to be a postzygotic mosaic mutation (PZM) in Lim et al., 2017. A second non-synonymous PZM in this gene was identified in an ASD proband in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 14/84,448 expected; hypergeometric P-value of 3.9E-03).
Molecular Function
May be involved in transferrin trafficking. Likely to power actin-based membrane trafficking in many physiologically crucial tissues.
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
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Recent Recommendation
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
