| KCNJ11 |
Kir6.2 |
DEND, PNDM, TNDM, MODY |
Mainly autosomal dominant. Reduced β cell function. Most treatable with SU. DEND patients also have developmental delay and epilepsy. Linkage to T2DM. |
(Flanagan et al., 2009, Gloyn et al., 2004, Hattersley and Ashcroft, 2005) |
| ABCC8 |
SUR1 |
DEND, PNDM, TNDM |
Genetically heterogenous. Reduced β cell function. Most treatable with SU. |
(Ellard et al., 2007, Hattersley and Ashcroft, 2005) |
| INS |
Insulin |
PNDM, MODY |
Increased β cell destruction. Treated with insulin. |
(Støy et al., 2010) |
| GCK |
Glucokinase |
PNDM, MODY2 |
PNDM, autosomal recessive. MODY, autosomal dominant. Reduced β cell function. |
(Osbak et al., 2009) |
| SCLC2A2 |
GLUT2 |
PNDM |
Autosomal dominant. Reduced β cell function. |
(Yoo et al., 2002) |
| PDX1 |
Insulin promoter factor 1 |
PNDM, MODY4 |
PNDM, autosomal recessive.cMODY, autosomal dominant. Pancreatic agenesis. |
(Stoffers et al., 1997) |
| GLIS3 |
GLIS3 (transcription factor) |
Syndromic |
Autosomal recessive. Reduced β cell function plus congenital hypothyrodism, glaucoma, liver fibrosis, polycystic kidneys. |
(Senée et al., 2006) |
| FOXP3 |
Forkhead box P3 |
Syndromic |
X-linked. Reduced β cell mass (increased β cell destruction) plus immune dysregulation, polyendocrinopathy, enteropathy. |
(Bennett et al., 2001) |
| EIF2AK3 |
Eukaryotic translation initiation factor 2-alpha kinase 3 |
Syndromic |
Autosomal recessive. Wolcott-Rallison syndrome. ND plus skeletal abnormalities and liver dysfucntion. |
(Delépine et al., 2000) |
| PTF1A |
Pancreas transcription factor 1A |
Syndromic |
Autosomal recessive. Pancreatic and cerebellar agenesis. |
(Sellick et al., 2004) |
| Rfx6 |
Rfx6 transcription factor |
Syndromic |
Autosomal recessive. Pancreatic agenesis. Bowel atresia. |
(Smith et al., 2010) |
| 6q24 abnormality |
|
TNDM |
Abnormality in a region of chromosome 6q24, causing overexpression of ZAC and HYMAI. |
(Temple and Shield, 2010) |
| TCF2 |
Hepatic nuclear factor 1β |
TNDM, MODY5 |
Autosomal dominant, diabetes only. Autosomal recessive, diabetes plus renal cysts, kidney, uterine, and genital developmental disorders. |
(Servitja and Ferrer, 2004) |
| HNF4A |
Hepatic nuclear factor 4α |
MODY1 |
Autosomal dominant, diabetes only. Autosomal recessive, diabetes plus lipid abnormalities. Linkage to T2DM. |
(Servitja and Ferrer, 2004) |
| TCF1 |
Hepatic nuclear factor 1α |
MODY3 |
Autosomal dominant, diabetes only, treatable with sulphonylureas. Autosomal recessive, diabetes plus extrapancreatic effects. Linkage to T2DM. |
(Servitja and Ferrer, 2004) |
| NEUROD1 |
Neurogenic differentiation factor 1 |
MODY6 |
Autosomal dominant. |
(Servitja and Ferrer, 2004) |
