| Panel | Mode of inheritance | Details |
|---|---|---|
5 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 2.60 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant), Diabetes mellitus, noninsulin-dependent, OMIM:125853, Diabetes mellitus, transient neonatal 2, OMIM:610374, Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450, Hypoglycemia of infancy, leucine-sensitive, OMIM:240800, Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive) |
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 |
Green in Pulmonary arterial hypertensionR-numbers: R188 Signed-off version 3.8 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Diabetes mellitus, Hypoglycaemia, Pulmonary arterial hypertension |