PanelApp
  1. Genes and Genomic Entities
  2. XK

XK

X-linked Kx blood group
OMIM: 314850, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green XK in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.50

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 0.360

    		2 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services

    Green XK in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  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 - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.40

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • 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 1.33

    		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