Aliases:
Chromosome No: 11
Chromosome Band: 11q13.1
Genetic Category: Rare single gene variant
ASD Reports: 7
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
|
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
