GCK

PanelMode of inheritanceDetails
3 panels
R-numbers: R144
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism, Dominant, MODY, type II, 125851
R-numbers: R143
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
MODY, type II, 125851, Diabetes mellitus, noninsulin-dependent, late onset, 125853, Diabetes mellitus, gestational, 125851, Hyperinsulinemic hypoglycemia, familial, 3, 602485, Diabetes mellitus, permanent neonatal, 606176, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes, Recessive, Permanent neonatal diabetes, Fasting hyperglycaemia, permanent neonatal diabetes
R-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