Incidentalome

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progressive neurological disorder, some clinical similarities with HD, including choreoathetosis. Cognitive impairment in ~50% according to OMIM.
Created: 14 Aug 2023, 9:02 a.m. | Last Modified: 14 Aug 2023, 9:02 a.m.
Panel Version: 0.166

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)

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Well established gene causative of McLeod's Syndrome:
10 affected brothers from 4 unrelated families with different variants causative of the condition.
Created: 29 Mar 2023, 5:05 a.m. | Last Modified: 29 Mar 2023, 5:05 a.m.
Panel Version: 0.223

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
McLeod Syndrome with or without chronic granulomatous disease (MIM#300842)

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
OMIM
314850
Clinvar variants
Variants in XK
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XK was added gene: XK was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: XK was set to Unknown