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Chan et al. J Transl Genet Genom 2024;8:13-34 https://dx.doi.org/10.20517/jtgg.2023.36 Page 121

Table 1. List of genes implicated in monogenic diabetes. Adapted from [67]

Maturity-onset diabetes of the young
ABCC8 ATP binding cassette subfamily C member 8
APPL1 Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
CEL Carboxyl ester lipase
GCK Glucokinase
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A Hepatocyte nuclear factor 4 alpha
INS Insulin
KCNJ11 Potassium inwardly rectifying channel subfamily J member 11
NEUROD1 Neuronal differentiation 1
PAX4 Paired box 4
PDX1 Pancreatic and duodenal homeobox 1
RFX6 Regulatory factor X6
ZFP57 ZFP57 zinc finger protein

Syndromic diabetes
CEL Carboxyl ester lipase
CISD2 CDGSH iron sulfur domain 2
DCAF17 DDB1 and CUL4 associated factor 17
DNAJC3 DnaJ heat shock protein family (Hsp40) member C3
DYRK1B Dual-specificity tyrosine-phosphorylation-regulated kinase 1B
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
HNF1B HNF1 homeobox B
PAX6 Paired box 6
PCBD1 Pterin-4 alpha-carbinolamine dehydratase 1
PIK3R1 Phosphoinositide-3-kinase regulatory subunit 1
PPP1R15B Protein phosphatase 1 regulatory subunit 15B
SLC29A3 Solute carrier family 29 member 3
TRMT10A tRNA methyltransferase 10A
WFS1 Wolframin ER transmembrane glycoprotein
ZBTB20 Zinc finger and BTB domain containing 20

Neonatal diabetes
ABCC8 ATP binding cassette subfamily C member 8
CISD2 CDGSH iron sulfur domain 2
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GCK Glucokinase
HNF1B HNF1 homeobox B
INS Insulin
INSR Insulin receptor
KCNJ11 Potassium inwardly rectifying channel subfamily J member 11
NEUROD1 Neuronal differentiation 1
PDX1 Pancreatic and duodenal homeobox 1
RFX6 Regulatory factor X6
SLC29A3 Solute carrier family 29 member 3
WFS1 Wolframin ER transmembrane glycoprotein