WDR93
Homo sapiens
Gene Name: WD repeat domain 93
Aliases:
Chromosome No: 15
Chromosome Band: 15q26.1
Genetic Category: Rare single gene variant
Aliases:
Chromosome No: 15
Chromosome Band: 15q26.1
Genetic Category: Rare single gene variant
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: |
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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
