Custom 74-Gene Panel Identifies De Novo POGZ Variants in Autism Cohort
Researchers tested a targeted panel of 74 autism-associated genes in 53 individuals with autism spectrum disorder (ASD), identifying 102 rare variants overall. Nine participants carried likely pathogenic or pathogenic variants, including two de novo variants in POGZ — one classified as a variant of uncertain significance and one as pathogenic. The newly identified variants were submitted to ClinVar, expanding the known mutational landscape of ASD-linked genes and aiding future diagnostic interpretation.









