Aliases:
Chromosome No: 6
Chromosome Band: 6q12
Genetic Category: Rare single gene variant
ASD Reports: 5
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 3
Evidence score: 3
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Relevance to Autism
A de novo loss-of-function (LoF) variant in the PHF3 gene was first identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). A second de novo LoF variant in this gene was identified by whole genome sequencing in an ASD proband from a multiplex family as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of two de novo LoF variants in ASD cases, a probability of LoF intolerance rate (pLI) > 0.9, and a higher-than expected mutation rate (a false discovery rate < 15%), PHF3 was determined to be an ASD candidate gene in Yuen et al., 2017.
Molecular Function
This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development.
External Links
