GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

ABSTRACT: We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY.

SUBMITTER: Sanyoura M 

PROVIDER: S-EPMC6544496 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature