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Relevance to Autism

A de novo missense variant in the POLA2 gene was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014); this variant was later determined to be a postzygotic mosaic mutation (PZM) in Lim et al., 2017. A second non-synonymous PZM in this gene were identified in an ASD proband in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 2/84,448 expected; hypergeometric P-value of 4.6E-05).

Molecular Function

May play an essential role at the early stage of chromosomal DNA replication by coupling the polymerase alpha/primase complex to the cellular replication machinery.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Recent Recommendation
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN922R001 
 missense_variant 
 c.877G>A 
 p.Glu293Lys 
 De novo 
  
 Simplex 
 GEN922R002 
 missense_variant 
 G>C 
 p.Gly209Arg 
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Deletion
 11
 

No Animal Model Data Available

 

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