KCNK9

potassium two pore domain channel subfamily K member 9
OMIM: 605874, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green KCNK9 in Genomic imprinting


Version 0.138

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Literature
  • Expert Review Green
  • Imprinting GeCIP Subdomain
Phenotypes
  • Birk-Barel syndrome
  • Phenotype resulting from under expression: mental retardation, hypotonia, dysmprophism
  • Affected tissue: brain

Red KCNK9 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • BIRK-BAREL SYNDROME 612292

    Green KCNK9 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    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 MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Birk-Barel mental retardation dysmorphism syndrome 612292

    Green KCNK9 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Birk-Barel mental retardation dysmorphism syndrome, 612292