List of diseases covered by
Hyperinsulinism NGS panel
Gene | Condition |
ABCC8 | Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal 2; Hyperinsulinemic hypoglycemia, familial, 1; Hypoglycemia of infancy, leucine-sensitive |
GCK | Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal; Hyperinsulinemic hypoglycemia, familial, 3; MODY, type II |
GLUD1 | Hyperinsulinism-hyperammonemia syndrome |
HADH | Hyperinsulinemic hypoglycemia, familial, 4; 3-hydroxyacyl-CoA dehydrogenase deficiency |
HK1 | Hemolytic anemia due to hexokinase deficiency; Neurodevelopmental disorder with visual defects and brain anomalies; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79 |
HNF1A | Diabetes mellitus, insulin-dependent, 20; MODY, type III; Renal cell carcinoma; Diabetes mellitus, insulin-dependent; Diabetes mellitus, noninsulin-dependent, 2 |
HNF4A | MODY, type I; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young; Diabetes mellitus, noninsulin-dependent |
INSR | Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5; Leprechaunism; Rabson-Mendenhall syndrome |
KCNJ11 | Diabetes mellitus, transient neonatal, 3; Diabetes, permanent neonatal, with or without neurologic features; Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young, type 13; Diabetes mellitus, type 2, susceptibility to |
PMM2 | Congenital disorder of glycosylation, type Ia |
SLC16A1 | Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency |
UCP2 | Obesity, susceptibility to, BMIQ4 |