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Relevance to Autism

A homozygous missense variant in the WDR93 gene was found to segregate with ASD in a consanguineous multiplex family (Alazami et al., 2015).

Molecular Function

GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
ASD
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
 GEN699R001a 
 missense_variant 
 c.280T>C 
 p.Tyr94His 
 Familial 
 Both parents 
 Multiplex 
 GEN699R002 
 frameshift_variant 
 c.1533del 
 p.Ser513ProfsTer207 
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Duplication
 1
 
15
Duplication
 1
 
15
Deletion
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 27
 
15
Duplication
 1
 

No Animal Model Data Available

No PIN Data Available
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