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Relevance to Autism

A rare mutation in the CNTN3 gene has been identified in a patient with ASD (Vaags et al., 2012).

Molecular Function

Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Positive Association
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Tourette syndrome
Negative Association
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contacti...
ASD
Support
Identifying autism loci and genes by tracing recent shared ancestry.
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN306R001 
 missense_variant 
 c.2600G>A 
 p.Arg867Gln 
 Familial 
 Paternal 
 Simplex 
 GEN306R002a 
 copy_number_loss 
  
  
 Familial 
 Both parents 
 Simplex 
 GEN306R003 
 missense_variant 
 c.547A>T 
 p.Ile183Leu 
 Familial 
 Maternal 
 Multiplex 
 GEN306R004 
 missense_variant 
 c.2521C>T 
 p.Arg841Trp 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 21
 
3
Deletion
 1
 
3
Deletion
 2
 
3
Deletion
 1
 

No Animal Model Data Available

 

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