Dilated Cardiomyopathy and conduction defects

Gene: XK

Red List (low evidence)

XK (X-linked Kx blood group)
EnsemblGeneIds (GRCh38): ENSG00000047597
EnsemblGeneIds (GRCh37): ENSG00000047597
OMIM: 314850, Gene2Phenotype
XK is in 8 panels

2 reviews

Rebecca Whittington (South West GLH)

I don't know

McLeod syndrome with or without chronic granulomatous disease OMIM#300842
Created: 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 feature
Created: 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)

I don't know

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

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