CCDC91
Homo sapiens
Gene Name: coiled-coil domain containing 91
Aliases: HSD8, p56
Chromosome No: 12
Chromosome Band: 12p11.22
Genetic Category: Rare single gene variant-
Aliases: HSD8, p56
Chromosome No: 12
Chromosome Band: 12p11.22
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 8
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 8
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 single gene deletion in Shen et al., 2010, and a maternally-inherited single gene deletion in Nava et al., 2014).
Molecular Function
Involved in the regulation of membrane traffic through the trans-Golgi network (TGN).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Clinical genetic testing for patients with autism spectrum disorders.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
ASD
Recent Recommendation
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
