Aliases:
Chromosome No: 19
Chromosome Band: 19q13.42
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 5
Recent Reports: 0
Annotated variants: 26
Associated CNVs: 4
Evidence score: 3
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Relevance to Autism
Bradbrook et al., 2025 described a cohort of 18 patients with protein-truncating variants in the ZNF865 gene (the majority of which were de novo in origin and clustered toward the C-terminus) presenting with a neurodevelopmental disorder characterized by speech delay, cognitive delay or intellectual disability, hypotonia, brain MRI abnormalities, and dysmorphic features; seven patients were reported to have been diagnosed with autism spectrum disorder, with two additional patients having autistic features without a confirmed diagnosis. Additional de novo variants in ZNF865, including two protein-truncating variants and four missense variants, have been reported in ASD probands from the Simons Simplex Collection, SPARK, the Autism Sequencing Consortium, MSSNG, and a Chinese ASD cohort (Satterstrom et al., 2020; Zhou et al., 2022; Wang et al., 2023).
Molecular Function
Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.
External Links
