Dystonia - complex

Gene: XK

Green List (high evidence)

XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 9:40 a.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
McLeod syndrome with or without chronic granulomatous disease MIM#300842

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
  • Expert list
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease MIM#300842
OMIM
314850
Clinvar variants
Variants in XK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

6 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: XK was added gene: XK was added to Dystonia - complex. Sources: Expert list 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 11761473 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842 Review for gene: XK was set to GREEN