KCTD17:Ensemblv90

potassium channel tetramerization domain containing 17
OMIM: 616386, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green KCTD17 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dystonia 26, myoclonic MIM#616398

Green KCTD17 in Dystonia - isolated/combined


Level 2: Neurology and neurodevelopmental disorders
Version 1.42

Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Dystonia 26, myoclonic MIM#616398

    Green KCTD17 in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Dystonia 26, myoclonic MIM#616398