Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

Gene, Volume 595, Issue 2, 31 December 2016, Pages 131–141
Pubmed Abstract

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Fabric Genomics’ (formerly Omicia) Opal clinical genetic interpretation software was used to identify an EHMT1 mutation in autism.  “Phenotypic effects of the final candidate variants were evaluated using the ACMG guidelines & Omicia Opal.”  Opal has integrated the most up-to-date ACMG classification guidelines in the software.