Aliases:
Chromosome No: 18
Chromosome Band: 18q21.32
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 9
Evidence score: null
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Relevance to Autism
A de novo loss-of-function (LoF) variant in the ZNF532 gene was identified 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. Two de novo missense variants in the ZNF532 gene were identified in ASD probands from the SSC and SPARK cohort (Iossifov et al., 2014; Trost et al., 2022), while a maternally-inherited splice-site variant in this gene was identified in two individuals diagnosed with ASD from two unrelated multiplex families from AGRE (Cirnigliaro et al., 2023).
Molecular Function
Predicted to enable DNA binding activity and metal ion binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus.
External Links
