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  3. XK
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Early onset or syndromic epilepsy

Gene: XK

Amber List (moderate evidence)
XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

After consultation with Helen Brittain (Clinical Fellow, Genomics England), the recommendation for XK has been changed to Amber. This is because there appear to be adult onset of neurological symptoms, including seizures. The scope of the Genetic epilepsy syndromes panel is targeting early onset severe or syndromic epilepsy.
Created: 6 Sep 2022, 1:45 p.m. | Last Modified: 6 Sep 2022, 1:45 p.m.
Panel Version: 2.590
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). Generalized seizures are reported in 20-40% cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842) according to OMIM.
Created: 11 Aug 2022, 9:44 a.m. | Last Modified: 11 Aug 2022, 10:12 a.m.
Panel Version: 2.567

Publications

Created: 11 Aug 2022, 9:44 a.m.
Last Modified: 11 Aug 2022, 10:12 a.m.
Copied from panel: Childhood onset dystonia or chorea or related movement disorder v1.245

Zornitza Stark (Australian Genomics)

Green List (high evidence)

5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list
Created: 10 Sep 2020, 11:01 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
McLeod syndrome with or without chronic granulomatous disease MIM#300842

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 10 Sep 2020, 11:01 p.m.

Copied from panel: Childhood onset dystonia or chorea or related movement disorder v1.245

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 Amber
  • Expert list
Phenotypes
  • McLeod syndrome with or without chronic granulomatous disease, OMIM:300842
  • McLeod neuroacanthocytosis syndrome, MONDO:0018945
OMIM
314850
Clinvar variants
Variants in XK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 2

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_22_rating was removed from gene: XK. Tag Q3_22_MOI was removed from gene: XK.

11 Aug 2022, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: XK was added gene: XK was added to Genetic epilepsy syndromes. Sources: Expert list,Expert Review Amber Q3_22_rating, Q3_22_MOI tags were added to gene: XK. 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; 30128557; 8004674; 8619554 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945