Genomics England
GMS Panels
Panels
Genes and Entities

KCNJ11

potassium voltage-gated channel subfamily J member 11
OMIM: 600937
PanelMode of inheritanceDetails
7 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
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 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090, FAMILIAL HYPERINSULINISM 3272
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Diabetes, permanent neonatal, with or without neurologic features, 606176, DEND syndrome
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
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
Green
in Monogenic diabetes
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
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinemic hypoglycemia, familial, 2, 601820, Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856, {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853, Diabetes mellitus, transient neonatal, 3, OMIM:610582, Maturity-onset diabetes of the young, type 13, OMIM:616329
Green
in Neonatal diabetes - small panel
R-numbers: R143.1
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes