Aliases: AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
Chromosome No: 8
Chromosome Band: 8q21.3
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 5
Evidence score: 3
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Relevance to Autism
Two de novo loss-of-function (LoF) variants and a de novo missense variant in the RUNX1T1 gene have been identified in ASD probands from the Autism Sequencing Consortium, the SPARK cohort, and the Simons Simplex Collection (Satterstrom et al., 2020; Zhou et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified RUNX1T1 as an ASD-associated gene with a false discovery rate (FDR) < 0.1.
Molecular Function
Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes.
External Links
