Dilated Cardiomyopathy and conduction defectsGene: XK
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
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
XK was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list