1. Genes and Genomic Entities
  2. KCNK9

KCNK9

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green KCNK9 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Birk-Barel syndrome, OMIM:612292
Red KCNK9 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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, OMIM:612292
    Green KCNK9 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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