ABCC8

ATP binding cassette subfamily C member 8
OMIM: 600509
PanelMode of inheritanceDetails
3 panels
R-numbers: R144
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 1, 256450
R-numbers: R143
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 1, 256450, Hypoglycemia of infancy, leucine-sensitive, 240800, Diabetes mellitus, transient neonatal 2, 610374, Diabetes mellitus, noninsulin-dependent, 125853, Diabetes mellitus, permanent neonatal, 606176, Permanent Neonatal Diabetes Mellitus, Transient Neonatal Diabetes, Dominant, Permanent neonatal diabetes mellitus, transient neonatal diabetes (Dominant), Isolated permanent neonatal diabetes, isolated transient neonatal diabetes, neonatal diabetes and developmental delay
R-numbers: R141
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes mellitus, permanent neonatal, 6, Transient Neonatal Diabetes, Dominant, transient neonatal diabetes (Dominant), Diabetes mellitus, noninsulin-dependent, 125853, DIABETES MELLITUS, NONINSULIN-DEPENDENT, Diabetes mellitus, transient neonatal 2, 610374, Hyperinsulinemic hypoglycemia, familial, 1, 256450, Hypoglycemia of infancy, leucine-sensitive, 240800, Permanent neonatal diabetes mellitus, Permanent Neonatal Diabetes Mellitus (recessive), Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6, Permanent Neonatal Diabetes Mellitus