SNX14
Homo sapiens
Gene Name: Sorting nexin 14
Aliases: RGS-PX2
Chromosome No: 6
Chromosome Band: 6q14.3
Genetic Category: Syndromic-Rare single gene variant-Rare single gene variant/Functional
Associated Syndrome(s): Autosomal recessive spinocerebellar ataxia-20
Aliases: RGS-PX2
Chromosome No: 6
Chromosome Band: 6q14.3
Genetic Category: Syndromic-Rare single gene variant-Rare single gene variant/Functional
Associated Syndrome(s): Autosomal recessive spinocerebellar ataxia-20
Summary Statistics:
ASD Reports: 10
Recent Reports: 1
Annotated variants: 27
Associated CNVs: 9
Evidence score: 2
ASD Reports: 10
Recent Reports: 1
Annotated variants: 27
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Biallelic variants in SNX14 were shown to cause a recessive syndrome in 12 families characterized by cerebellar atrophy, ataxia, coarsened facial features, and intellectual disability; detailed clinical characterization of affected individuals found that 22/22 displayed delayed or absent social development, while 12/22 displayed autistic-like behavior (Akizu et al., 2015).
Molecular Function
This gene encodes a member of the sorting nexin family that plays a role in maintaining normal neuronal excitability and synaptic transmission and may be involved in several stages of intracellular trafficking.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
ID, DD, cerebellar atrophy, hypotonia
Autistic features
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Autosomal recessive spinocerebellar ataxia-20
DD, ID
Support
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
ID
Microcephaly
Support
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
ID, cerebellar ataxia
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN717R003a
frameshift_variant
c.1182del
p.Lys395ArgfsTer22
Familial
Both parents
Multiplex
GEN717R005a
frameshift_variant
c.809_813del
p.Ile270ArgfsTer17
Familial
Both parents
Simplex
GEN717R006a
frameshift_variant
c.2737_2743del
p.Asp913Ter
Familial
Both parents
Multiplex
GEN717R009a
frameshift_variant
c.645dup
p.Glu216ArgfsTer25
Familial
Both parents
Multiplex
GEN717R011a
frameshift_variant
c.645dup
p.Glu216ArgfsTer25
Familial
Both parents
Simplex
GEN717R012a
frameshift_variant
c.2643del
p.Cys881Ter
Familial
Both parents
Extended multiplex
GEN717R013a
stop_gained
c.2596C>T
p.Gln866Ter
Familial
Both parents
Multiplex
GEN717R017a
frameshift_variant
c.1486dup
p.Arg496LysfsTer4
Familial
Both parents
Simplex
GEN717R020a
splice_site_variant
c.1867+1G>T
Familial
Both parents
Simplex
GEN717R022
frameshift_variant
c.1859_1860del
p.Glu620ValfsTer7
Familial
Maternal
Multiplex
GEN717R023a
frameshift_variant
c.686_687del
p.Ala229GlufsTer32
Familial
Both parents
Simplex
Common
No Common Variants Available
