SNX19
Homo sapiens
Gene Name: sorting nexin 19
Aliases: CHET8
Chromosome No: 11
Chromosome Band: 11q24.3-q25
Genetic Category: Rare single gene variant-Genetic association
Aliases: CHET8
Chromosome No: 11
Chromosome Band: 11q24.3-q25
Genetic Category: Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 8
Evidence score: 0
| Associated Disorders: |
|
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
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
