KCNJ11

potassium voltage-gated channel subfamily J member 11
OMIM: 600937
PanelMode of inheritanceDetails
6 panels
R-numbers: R144
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinism, Dominant/Recessive, Hyperinsulinemic hypoglycemia, familial, 2, 601820
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090, FAMILIAL HYPERINSULINISM 3272
R-numbers: R143
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 2, 601820, Diabetes, permanent neonatal, 606176, Diabetes mellitus, permanent neonatal, with neurologic features, 606176, {Diabetes mellitus, type 2, susceptibility to}, 125853, Diabetes mellitus, transient neonatal, 3, 610582, Transient Neonatal Diabetes, Dominant, Diabetes Mellitus, PermanentNeonatal, Diabetes Mellitus, Transient Neonatal, 3, Transient Neonatal diabetes mellitus (Dominant), Isolated permanent neonatal diabetes, isolated transient neonatal diabetes, neonatal diabetes and developmental delay
R-numbers: R59
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes, permanent neonatal, with or without neurologic features, 606176, DEND syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582, FAMILIAL HYPERINSULINISM
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Transient Neonatal diabetes mellitus (Dominant), Transient Neonatal Diabetes, Dominant, Diabetes mellitus, transient neonatal, 3, 610582, Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive), Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582, Diabetes, permanent neonatal, 606176, Diabetes mellitus, permanent neonatal, with neurologic features, 606176, Maturity Onset Diabetes of the Young, {Diabetes mellitus, type 2, susceptibility to}, 125853, Hyperinsulinemic hypoglycemia, familial, 2, 601820, Transient Neonatal, 3, Maturity Onset Diabetes of the Young (Dominant), Diabetes Mellitus, Permanent Neonatal, Diabetes mellitus, trans, Diabetes Mellitus, Transient Neonatal, 3