Cytopenias and congenital anaemias
Gene: XKEnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels
1 review
Rachel Jones (GSTT)
Several publications including those given above regarding this well characterised link between XK gene and McLeod syndrome in many patients. Phenotype is acanthosis, haemolysis and elevated CK. Neurological phenotype (from OMIM) "Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy"
Testing not currently offered by UK labs but several accredited European laboratories are offering testing
Sources: LiteratureCreated: 23 Sep 2019, 11:08 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
McLeod syndrome with or without chronic granulomatous disease OMIM 300842
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
- OMIM
- 314850
- Clinvar variants
- Variants in XK
- Penetrance
- Incomplete
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842 to McLeod syndrome with or without chronic granulomatous disease,OMIM:300842
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: xk has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease OMIM 300842 to McLeod syndrome with or without chronic granulomatous disease, 300842
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Rachel Jones (GSTT)gene: XK was added gene: XK was added to Cytopenias and congenital anaemias. Sources: Literature Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: XK were set to 11761473; 11761473 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease OMIM 300842 Penetrance for gene: XK were set to Incomplete Review for gene: XK was set to GREEN gene: XK was marked as current diagnostic