| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 1, 256450 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Diabetes mellitus, permanent neonatal, 6, Transient Neonatal Diabetes, Dominant, transient neonatal diabetes (Dominant), Diabetes mellitus, noninsulin-dependent, 125853, DIABETES MELLITUS, NONINSULIN-DEPENDENT, Diabetes mellitus, transient neonatal 2, 610374, Hyperinsulinemic hypoglycemia, familial, 1, 256450, Hypoglycemia of infancy, leucine-sensitive, 240800, Permanent neonatal diabetes mellitus, Permanent Neonatal Diabetes Mellitus (recessive), Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6, Permanent Neonatal Diabetes Mellitus |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450, Hypoglycemia of infancy, leucine-sensitive, OMIM:240800, Diabetes mellitus, transient neonatal 2, OMIM:610374, Diabetes mellitus, noninsulin-dependent, OMIM:125853, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857 |
Green in Neonatal diabetes - small panelR-numbers: R143.1 Signed-off version 1.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes |