Aliases: AC1, DFNB44
Chromosome No: 7
Chromosome Band: 7p12.3
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 4
Evidence score: null
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Relevance to Autism
A de novo missense variant with a CADD score > 30 was identified in the ADCY1 gene in a Korean ASD proband in Kim et al., 2024; this gene was subsequently classified as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. A de novo loss-of-function variant and a de novo missense variant in ADCY1 had previously been reported in two SPARK probands (Zhou et al., 2022; Trost et al., 2022).
Molecular Function
This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development.
External Links
