XK

X-linked Kx blood group
OMIM: 314850, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green XK in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.55

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • McLeod syndrome with or without chronic granulomatous disease (MIM#300842)

    Green XK in Incidentalome


    Version 0.430

    2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • McLeod Syndrome with or without chronic granulomatous disease (MIM#300842)

    Green XK in Dystonia and Chorea


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.340

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • McLeod syndrome with or without chronic granulomatous disease MIM#300842

    Green XK in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • McLeod syndrome with or without chronic granulomatous disease (MIM#300842)

    Green XK in Red cell disorders


    Level 2: Haematological disorders
    Version 1.46

    1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • London South GLH
    • NHS GMS
    Phenotypes
    • McLeod syndrome with or without chronic granulomatous disease MIM# 300842
    • absence of red blood cell Kx antigen
    • weak expression of Kell red blood cell antigens
    • neuroacanthocytosis (peripheral and central nervous systems)
    • cardiovascular abnormalities
    • myopathy