Clinical Domain Working Groups

Monogenic Diabetes Gene Curation Expert Panel

Membership

The initial scope of the work is to curate the 14 genes designated as MODY (maturity onset diabetes of the young) genes by OMIM and or the peer-reviewed literature and often included on commercial monogenic diabetes genetic testing panels, including HNF1A, HNF4A, GCK, HNF1B, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, and APPL1.  These genes are being considered for sequence variant pathogenicity evaluation with the concordant Monogenic Diabetes VCEP.  The status of some of the genes as MODY genes has been called into question, and the initial set of curations will help to clarify which genes are legitimate monogenic diabetes genes.

Future curation endeavors will include extending this list to a broader range of genes asserted to be involved with monogenic diabetes.

Expert Panel Status - Approved Expert Panel

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Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.