PanelMode of inheritanceDetails
3 panels
R-numbers: R144
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hyperinsulinism, Dominant, MODY, type II, 125851
R-numbers: R143
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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)
R-numbers: R141
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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