Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.

ABSTRACT:

Purpose

Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not.

Methods

Using the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relation

SUBMITTER: Riggs ER 

PROVIDER: S-EPMC10200330 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature