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פאנלים

Monogenic diabetes

GC_1

Last update: 06.01.2026

Monogenic diabetes results from pathogenic variants affecting pancreatic β-cell development or function, insulin secretion, insulin signaling, or other pathways involved in glucose homeostasis. Clinical presentations include neonatal diabetes, maturity-onset diabetes of the young (MODY), syndromic diabetes, mitochondrial diabetes, and other inherited forms of non-autoimmune diabetes.

This panel includes genes associated with the major forms of monogenic diabetes, including MODY, neonatal diabetes, insulin resistance syndromes, mitochondrial diabetes, and syndromic forms of diabetes.

This panel is recommended for patients with early-onset, non-autoimmune, familial, or otherwise unexplained diabetes, particularly when the clinical presentation is atypical for type 1 or type 2 diabetes or when a molecular diagnosis may influence treatment, surveillance, or family testing.
ABCC8, AGPAT2, AIRE, AKT2, APPL1, BLK, BSCL2, CEL, CISD2, CNOT1, DCAF17, DNAJC3, DUT, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FICD, FOXP3, GATA4, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, KBTBD2, KCNJ11, KLF11, LMNA, LRBA, MNX1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, NEUROD1, NEUROG3, NKX2-2, ONECUT1, PAX4, PAX6, PCBD1, PDIA6, PDX1, PIK3R1, PLIN1, POC5, POLD1, PPARG, PPP1R15B, PTF1A, RFX6, RNU4ATAC, RNU6ATAC, SLC16A1, SLC19A2, SLC29A3, SLC2A2, SMPD4, STAT3, TARS2, TMEM167A, TRMT10A, UCP2, WFS1, YIPF5, ZBTB20, ZFP57, ZMPSTE24, ZNF808

ClinVar P/LP variants (IDs) not covered: -

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