KCNJ11

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

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green KCNJ11 in Hyperinsulinism Level 2: Endocrine disorders Version 1.16	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, type 2, susceptibility to} 125853 Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Maturity-onset diabetes of the young, type 13 616329 AD
Green KCNJ11 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Diabetes mellitus, type 2, susceptibility to} 125853 Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Maturity-onset diabetes of the young, type 13 616329 AD
Green KCNJ11 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820
Red KCNJ11 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Expert Review Red Genetic Health Queensland
Green KCNJ11 in Maturity-onset Diabetes of the Young Level 2: Endocrine disorders Version 1.21	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green 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
Red KCNJ11 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820
Green KCNJ11 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes permanent neonatal diabetes mellitus MONDO:0100164
Green KCNJ11 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Green KCNJ11 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial
Amber KCNJ11 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Diabetes mellitus, transient neonatal 3 (MIM#610582) Diabetes, permanent neonatal 2, with or without neurologic features (MIM#618856)
Green KCNJ11 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Green KCNJ11 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Diabetes mellitus, transient neonatal, 3 610582 Tags treatable endocrine
Green KCNJ11 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Diabetes mellitus, trans Maturity Onset Diabetes of the Young (Dominant) Diabetes Mellitus, Permanent Neonatal Transient Neonatal diabetes mellitus (Dominant) {Diabetes mellitus, type 2, susceptibility to}, 125853 Transient Neonatal Diabetes, Dominant Diabetes mellitus, permanent neonatal, with neurologic features, 606176 Diabetes, permanent neonatal, 606176 Diabetes mellitus, transient neonatal, 3, 610582 Diabetes Mellitus, Transient Neonatal, 3 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 Maturity Onset Diabetes of the Young Transient Neonatal, 3 Hyperinsulinemic hypoglycemia, familial, 2, 601820
Green KCNJ11 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)