A de novo frameshift variant in the QRICH1 gene was identified in an ASD proband from the Autism Sequencing Consortium in De Rubeis et al., 2014. De novo loss-of-function variants in QRICH1 were subsequently identified in three patients presenting with developmental delay/intellectual disability in Ververi et al., 2017; one of these three patients was also diagnosed with ASD.
This gene encodes a protein of unknown function.
Type of Disorder
Synaptic, transcriptional and chromatin genes disrupted in autism.