Dilated Cardiomyopathy and conduction defects
Gene: XK
XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 12 panels
2 reviews
Rebecca Whittington (South West GLH)
McLeod syndrome with or without chronic granulomatous disease OMIM#300842Created: 25 Mar 2019, 4:30 p.m.
https://omim.org/clinicalSynopsis/300842 - 60% of patients have DCM and AF. R Many pathogenic variants reported on HGMD. Appears that DCM may be a key feature but may not be a presenting featureCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic DCM
- OMIM
- 314850
- Clinvar variants
- Variants in XK
- Penetrance
- Complete
- Panels with this gene
-
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Rare anaemia
- Hereditary neuropathy or pain disorder
- Cytopenias and congenital anaemias
- Adult onset dystonia, chorea or related movement disorder
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Intellectual disability
- Hereditary neuropathy
- Early onset or syndromic epilepsy
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to XK. Mode of inheritance for gene XK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)XK was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list