Article
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.
Clinical genetics - 1 Jun 2026
Andriessen Evi, de Boer Elke, Lyon Gholson J, de Vries Bert B A, Ockeloen Charlotte W, Dingemans Alexander J M
Abstract excerpt
KBG syndrome (KBGS, OMIM #148050) is a rare genetic disorder caused by heterozygous truncating or missense variants in the ANKRD11 gene or a deletion of 16q24.3 involving ANKRD11. While truncating variants clearly disrupt protein function, the interpretation of missense variants is more challenging, as many remain variants of uncertain significance (VUS). To address this, we evaluated PhenoScore, an open-source...
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