| Abnormal pancreatic development: |
| PLAGL1/HYMAI |
6q24 |
Variable (imprinting) |
TNDM ± macroglossia ± umbilical hernia |
| ZFP57 |
6p22.1 |
Recessive |
TNDM (multiple hypomethylation syndrome) ± macroglossia ± developmental delay ± umbilical defects ± congenital heart disease |
| PDX1 |
13q12.1 |
Recessive |
PNDM + pancreatic agenesis (steatorrhea) |
| PTF1A |
10p12.2 |
Recessive |
PNDM + pancreatic agenesis (steatorrhea) + cerebellar hypoplasia/aplasia + central respiratory dysfunction |
| PTF1A enhancer |
10p12.2 |
Recessive |
PNDM + pancreatic agenesis without CNS features |
| HNF1B |
17q21.3 |
Dominant |
TNDM + pancreatic hypoplasia and renal cysts |
| RFX6 |
6q22.1 |
Recessive |
PNDM + intestinal atresia + gall bladder agenesis |
| GATA6 |
18q11.1‐q11.2 |
Dominant |
PNDM + pancreatic agenesis + congenital heart defects + biliary abnormalities |
| GATA4 |
8p23.1 |
Dominant |
PNDM + pancreatic agenesis + congenital heart defects |
| GLIS3 |
9p24.3‐p23 |
Recessive |
PNDM + congenital hypothyroidism + glaucoma + hepatic fibrosis + renal cysts |
| NEUROG3 |
10q21.3 |
Recessive |
PNDM + enteric anendocrinosis (malabsorptive diarrhea) |
| NEUROD1 |
2q32 |
Recessive |
PNDM + cerebellar hypoplasia + visual impairment + deafness |
| PAX6 |
11p13 |
Recessive |
PNDM + microphthalmia + brain malformations |
| MNX1 |
7q36.3 |
Recessive |
PNDM + developmental delay + sacral agenesis + imperforate anus |
| NKX2‐2 |
20p11.22 |
Recessive |
PNDM + developmental delay + hypotonia + short stature + deafness + constipation |
| CNOT1 |
16q21 |
Spontaneous |
PNDM + pancreatic agenesis + holoprosencephaly |
| ONECUT1 |
15q21.3 |
Recessive |
PNDM + pancreatic hypoplasia + gall bladder hypoplasia |
| Abnormal β‐cell function: |
| KCNJ11 |
11p15.1 |
Spontaneous or dominant |
PNDM/ TNDM ± DEND |
| ABCC8 |
11p15.1 |
Spontaneous, dominant or recessive |
TNDM/PNDM ± DEND |
| INS |
11p15.5 |
Recessive |
Isolated PNDM or TNDM |
| GCK |
7p15‐p13 |
Recessive |
Isolated PNDM |
| SLC2A2 (GLUT2) |
3q26.1‐q26.3 |
Recessive |
Fanconi‐Bickel syndrome: PNDM + hypergalactosemia, liver dysfunction |
| SLC19A2 |
1q23.3 |
Recessive |
Roger’s syndrome: PNDM + thiamine‐responsive megaloblastic anemia, sensorineural deafness |
| KCNMA1 |
10q22.3 |
Spontaneous |
PNDM (not all cases) + developmental delay + intestinal malformations + cardiac malformations + bone dysplasia + dysmorphic features |
| Destruction of β cells: |
| INS |
11p15.5 |
Spontaneous or dominant |
Isolated PNDM |
| EIF2AK3 |
2p11.2 |
Recessive |
Wolcott‐Rallison syndrome: PNDM + skeletal dysplasia + recurrent liver dysfunction |
| IER3IP1 |
18q21.2 |
Recessive |
PNDM + microcephaly + lissencephaly + epileptic encephalopathy |
| FOXP3 |
Xp11.23‐p13.3 |
X‐linked, recessive |
IPEX syndrome (autoimmune enteropathy, eczema, autoimmune hypothyroidism, elevated IgE) |
| WFS1 |
4p16.1 |
Recessive |
PNDM a + optic atrophy ± diabetes insipidus ± deafness |
| WFS1 |
4p16.1 |
Dominant |
PNDM or infancy‐onset diabetes + congenital cataracts + deafness |
| EIF2B1 |
12q24.31 |
Spontaneous |
PNDM + episodic hepatic dysfunction |
| YIPF5 |
5q31.3 |
Recessive |
PNDM + severe microcephaly + epilepsy |
| STAT3 |
17q21.2 |
Spontaneous |
PNPM + enteropathy + other autoimmunity such as cytopenias |
| CTLA4 |
2q33.2 |
Spontaneous |
Lymphoproliferative syndrome + enteropathy + cytopenias + diabetes + thyroiditis |
| ITCH |
20q11.22 |
Recessive |
PNDM + facial dysmorphism + multi‐system autoimmunity |
| IL2RA |
10p15.1 |
Recessive |
Lymphoproliferation + multi‐system autoimmunity + diabetes |
| LRBA |
4q31.3 |
Recessive |
PNDM + enteropathy + hypothyroidism + autoimmune hemolytic anemia |
