Aliases: C22orf30
Chromosome No: 22
Chromosome Band: 22q12.2
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 6
Evidence score: 3
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Relevance to Autism
Three de novo loss-of-function (LoF) variants and two de novo missense variants in the PRR14L gene have been identified in ASD probands from the MSSNG cohort, the Autism Sequencing Consortium, and the SPARK cohort (Yuen et al., 2017; 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 PRR14L as an ASD-associated gene with a false discovery rate (FDR) < 0.1.
Molecular Function
Although the molecular function of the protein encoded by this gene is thus far unknown, Chase et al., 2019 reported an association of chromosome 22 acquired uniparental disomy (aUPD) with mutations that delete the C-terminus of PRR14L in patients with chronic myelomonocytic leukemia (CMML), related myeloid neoplasms and age-related clonal hematopoiesis (ARCH); RNA-Seq and cellular localization studies in this report suggested a role for PRR14L in cell division.
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