KCNJ11

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

12 panels

Panel Reviews Mode of inheritance Details
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 4.3
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 4.5
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 5.14
    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 6.26
    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