EXOC6B
Homo sapiens
Gene Name: exocyst complex component 6B
Aliases: SEC15B, SEC15L2
Chromosome No: 2
Chromosome Band: 2p13.2
Genetic Category: Rare single gene variant-Multigenic CNV
Aliases: SEC15B, SEC15L2
Chromosome No: 2
Chromosome Band: 2p13.2
Genetic Category: Rare single gene variant-Multigenic CNV
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 5
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
The EXOC6B gene was found to be disrupted by a de novo balanced translocation t(2;8)(p13.2;q22.1) in a female patient with a severe clinical phenotype including intellectual disability, epilepsy, behavioral features resembling autism, and minor dysmorphic features (Fruhmesser et al., 2013).
Molecular Function
Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
ID
Epilepsy
Support
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p...
ID
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights t...
ASD, ADHD
