KCNJ11

potassium voltage-gated channel subfamily J member 11
OMIM: 600937, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
No list KCNJ11 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 Maturity Onset Diabetes of the Young Transient Neonatal Diabetes, Dominant Monogenic Diabetes Diabetes Mellitus, Transient Neonatal, 3 Diabetes Mellitus, Permanent Neonatal Neonatal Diabetes Tags curated_removed
Green KCNJ11 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 {Diabetes mellitus, type 2, susceptibility to}, 125853 Diabetes mellitus, trans Maturity Onset Diabetes of the Young Transient Neonatal Diabetes, Dominant Diabetes Mellitus, Permanent Neonatal Diabetes Mellitus, Transient Neonatal, 3 Transient Neonatal diabetes mellitus (Dominant) Maturity Onset Diabetes of the Young (Dominant) Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive) Transient Neonatal, 3
Green KCNJ11 in Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.6 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 KCNJ11 in Congenital hyperinsulinism Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Hyperinsulinism, Dominant/Recessive Hyperinsulinemic hypoglycemia, familial, 2, 601820
Green KCNJ11 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen 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 Maturity Onset Diabetes of the Young
Green KCNJ11 in Monogenic diabetes Version 2.58 Latest signed off version: v2.2 (25 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Diabetes mellitus, transient neonatal, 3, OMIM:610582 Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856 Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820 Maturity-onset diabetes of the young, type 13, OMIM:616329
Red KCNJ11 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL FAMILIAL HYPERINSULINISM
Green KCNJ11 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 FAMILIAL HYPERINSULINISM 3272
Green KCNJ11 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.6 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Diabetes, permanent neonatal, with or without neurologic features, 606176 DEND syndrome
Green KCNJ11 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen 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 KCNJ11 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Diabetes mellitus, transient neonatal, 3, 610582 Maturity-onset diabetes of the young, type 13, 616329 Diabetes, permanent neonatal, with or without neurologic features, 606176 Hyperinsulinemic hypoglycemia, familial, 2, 601820
Green KCNJ11 in Neonatal diabetes - small panel Version 1.3 Latest signed off version: v1.2 (26 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS