| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.9 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperinsulinism, Dominant, MODY, type II, 125851 |
R-numbers: R142 Signed-off version 1.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MODY, type II, OMIM:125851, Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853, Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485, Diabetes mellitus, permanent neonatal 1, OMIM:606176, maturity-onset diabetes of the young type 2, MONDO:0007453, permanent neonatal diabetes mellitus 1, MONDO:0100165, hyperinsulinism due to glucokinase deficiency, MONDO:0011236 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 3.26 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485, Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853, MODY, type II, OMIM:125851, Diabetes mellitus, permanent neonatal 1, OMIM:606176 |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 6.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes MODY, type II, OMIM:125851, Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853, Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485, Diabetes mellitus, permanent neonatal 1, OMIM:606176, Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive) |