Genomics England

KCNJ11

potassium voltage-gated channel subfamily J member 11

Panel	Mode of inheritance	Details
Filter panels7 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 4.15	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 6.9	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 7.51	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