Aliases: DCR1, GLOW, MNG1, aviD, Dicer, HERNA, RMSE2, Dicer1e, K12H4.8-LIKE
Chromosome No: 14
Chromosome Band: 14q32.13
Genetic Category: Functional-Rare single gene variant
ASD Reports: 7
Recent Reports: 0
Annotated variants: 11
Associated CNVs: 8
Evidence score: 3
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Relevance to Autism
DeNovoWest analysis of an integrated cohort of over 40,000 ASD cases across unpublished and published global cohort in Tan et al., 2026 identified DICER1 as an ASD risk gene with a false discovery rate of <0.05; among the ASD-associated variants used in this analysis were a de novo loss-of-function variant identified in a SPARK proband and seven de novo missense variants identified in ASD probands from the Simons Simplex Collection, the Autism Sequencing Consortium, the SPARK cohort, the MSSNG cohort, and a Chinese ASD cohort from Wang et al., 2023.
Molecular Function
This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Postzygotic mutations in this gene are responsible for GLOW syndrome (OMIM 618272), a syndrome of global developmental delay, lung cysts, overgrowth, and Wilms tumor.
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