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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
Integrating de novo and inherited variants in 42
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.
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN799R001 
 copy_number_loss 
  
  
 De novo 
  
 Unknown 
 GEN799R002 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN799R003 
 splice_site_variant 
 c.-14-31064A>G 
  
 Familial 
 Paternal 
 Multiplex 
 GEN799R004 
 missense_variant 
 c.946T>C 
 p.Ser316Pro 
 De novo 
  
  
 GEN799R005 
 splice_site_variant 
 c.-14-31002G>T 
  
 Familial 
 Maternal 
 Multiplex 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
12
Deletion-Duplication
 10
 
12
Deletion
 3
 
12
Deletion
 1
 
12
Deletion
 2
 
12
Deletion
 4
 
12
Duplication
 5
 
12
Deletion
 1
 
12
Duplication
 1
 

No Animal Model Data Available

 

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