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Relevance to Autism

A maternally-inherited deletion involving the SNX19 gene was identified in a male patient with autism, mild ID, and epilepsy (Wisniowiecka-Kowalnik et al., 2012). This deletion was also detected in an affected brother.

Molecular Function

This gene, which belongs to the sorting nexin family, may be involved in several stages of intracellular trafficking.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
ASD
DD/ID
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN466R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN466R002 
 missense_variant 
 c.2410G>A 
 p.Val804Met 
 De novo 
  
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN466C001 
 intergenic_variant 
 rs35774874 
 T>C 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 5
 
11
Duplication
 1
 
11
Deletion-Duplication
 4
 
11
Deletion
 6
 
11
Deletion-Duplication
 11
 
11
Deletion
 8
 

No Animal Model Data Available

 

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