| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hyperinsulinism, Dominant, MODY, type II, 125851 |
R-numbers: R142 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Transient Neonatal Diabetes, Recessive, MODY2, Diabetes mellitus, permanent neonatal, 606176, Maturity-Onset Diabetes Of The Young, Hyperinsulinemic hypoglycemia, familial, 3, 602485, Diabetes mellitus, noninsulin-dependent, late onset, 125853, Permanent neonatal diabetes, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2, Permanent Neonatal Diabetes Mellitus (recessive), Maturity-onset diabetes of the young (MODY), Permanent Neonatal Diabetes Mellitus, Maturity Onset Diabetes of the Young (Dominant), Diabetes mellitus, gestational, 125851, MODY, type II, 125851, Maturity Onset Diabetes of the Young, Neonatal diabetes, Fasting hyperglycaemia |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | 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) |