Incidentalome
Gene: XK
XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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