Chromosome No: 22
Chromosome Band: 22q11.1-q11.21
Genetic Category: Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 5
Evidence score: 2
Relevance to Autism
A deletion disurpting an exon of the CECR2 gene was detected in a female ASD patient; this variant was not observed in controls (Prasad et al., 2012).
This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome.