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 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450, Hypoglycemia of infancy, leucine-sensitive, OMIM:240800, Diabetes mellitus, transient neonatal 2, OMIM:610374, Diabetes mellitus, noninsulin-dependent, OMIM:125853, Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
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