MYH4
Homo sapiens
Gene Name: Myosin, heavy chain 4, skeletal muscle
Aliases: MYH2B, MyHC-2B, MyHC-IIb
Chromosome No: 17
Chromosome Band: 17p13.1
Genetic Category: Rare single gene variant
Aliases: MYH2B, MyHC-2B, MyHC-IIb
Chromosome No: 17
Chromosome Band: 17p13.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 5
Evidence score: 2
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A novel recurrent deletion involving the MYH4 gene was identified in two unrelated ASD cases (Prasad et al., 2012).
Molecular Function
Gene product involved muscle contraction
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD