KCNJ11

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

11 panels

Panel Reviews Mode of inheritance Details
11 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 1.66

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 Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.38
Latest signed off version: v2.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Tags
  • Q1_22_MOI

Green KCNJ11 in Congenital hyperinsulinism

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.10
Latest signed off version: v2.3 (25 Feb 2020)

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 1.66

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 2.50
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 1.900
Latest signed off version: v1.92 (21 Aug 2020)

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 2.76
Latest signed off version: v2.2 (13 Feb 2020)

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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.127

    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