Table 2 Mutations in genes associated with monogenic diabetes
Gene | Nucleotide change | Amino acid change | Exon/Intron | Segregation data | ACMG/AMP guidelines | Phenotype |
|---|---|---|---|---|---|---|
HNF1B | c.443C > T | p.S148L | 1 | NA | Pathogenic | MODY 5 |
KCNJ11 | c.602G > A | p.R201H | 1 | NA | Pathogenic | DEND syndrome |
WFS1 | c.2171C > T | p.P724L | 8 | Sibling | Pathogenic | Wolfram syndrome |
WFS1 | c.1725_1742del | p.G587_G592del | 8 | Sibling | Likely pathogenic | Wolfram syndrome |
INSR | c.3196C > T | p.R1066* | 17 | Paternal | Pathogenic | Donohue syndrome |
INSR | c.3614C > T | p.Q1232* | 21 | Maternal | Pathogenic | Donohue syndrome |
FOXP3 | c.201 + 1G > A | Splice site | 1 | Maternal | Pathogenic | IPEX syndrome |
SLC2A2 | c.13A > T | p.K5* | 1 | NA | Pathogenic | Fanconi-Bickel syndrome |
EIF2AK3 | c.1293G > A | p.W431* | 6 | NA | Likely pathogenic | Wolcott-Rallison syndrome |
CFTR | c.4056G > C | p.Q1352H | 25 | NA | Uncertain significance | CFRD |
CFTR | c.1322 T > C | p.L441P | 10 | NA | Uncertain significance | CFRD |
MTTL1 | m.3243A > G | Mitochondrial gene | Mitochondrial gene | NA | Pathogenic | MIDD |