Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: XKEnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554).Created: 11 Aug 2022, 9:43 a.m. | Last Modified: 11 Aug 2022, 9:43 a.m.
Panel Version: 1.79
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Katherine Schon (University of Cambridge)
McLeod syndrome causes a multi-system disorder. The presentation can resemble Huntington Disease with movement disorder, psychiatric symptoms and cognitive impairment.
Sources: LiteratureCreated: 3 Aug 2022, 12:43 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis
Publications
Details
- Mode of Inheritance
- 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
- Phenotypes
-
- McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
- McLeod neuroacanthocytosis syndrome, MONDO:0018945
- OMIM
- 314850
- Clinvar variants
- Variants in XK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Rare anaemia
- Dilated Cardiomyopathy and conduction defects
- Early onset or syndromic epilepsy
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: xk has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: XK were set to 30128557; 20301528
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: XK were changed from Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Katherine Schon (University of Cambridge)gene: XK was added gene: XK was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Literature Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: XK were set to 30128557; 20301528 Phenotypes for gene: XK were set to Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis Penetrance for gene: XK were set to Complete Review for gene: XK was set to GREEN