Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: XK

Green List (high evidence)

XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 8 panels

1 review

Rachel Jones (GSTT)

Green List (high evidence)

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: Literature
Created: 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, 300842
OMIM
314850
Clinvar variants
Variants in XK
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

23 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: xk has been classified as Green List (High Evidence).

23 Sep 2019, Gel status: 0

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

23 Sep 2019, Gel status: 0

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