XK

X-linked Kx blood group
OMIM: 314850, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green XK in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

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
  • Literature
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
  • McLeod neuroacanthocytosis syndrome, MONDO:0018945
Red XK in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
Red XK in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic DCM
Green XK in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
Green XK in Rare anaemia


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
  • McLeod neuroacanthocytosis syndrome, MONDO:0018945
Green XK in Adult onset neurodegenerative disorder


Version 4.46
Latest signed off version: v4.34 (31 Jul 2023)

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
  • NHS GMS
  • Literature
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
  • McLeod neuroacanthocytosis syndrome, MONDO:0018945
Green XK in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
  • McLeod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
Amber XK in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.164
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 Amber
    • Expert list
    Phenotypes
    • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
    • McLeod neuroacanthocytosis syndrome, MONDO:0018945
    Red XK in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 Red
    Phenotypes
    • X-linked mental retardation
    Amber XK in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Mceod syndrome, Onset 25-60, acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy
    • McLeod syndrome with or without chronic granulomatous disease, 300842
    Red XK in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    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 Red
    • Expert list
    Phenotypes
    • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
    • McLeod neuroacanthocytosis syndrome, MONDO:0018945