Childhood onset dystonia, chorea or related movement disorder

Gene: XK

Red List (low evidence)

Comment on list classification: Not appropriate for this panel, as older onset.

Created: 6 Sep 2022, 5:14 p.m. | Last Modified: 6 Sep 2022, 5:14 p.m.

Panel Version: 1.258

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants have been reported in cases of McLeod syndrome with or without chronic granulomatous disease (OMIM:300842), including at least two cases in females; severe symptoms were apparent in the index case (11.1) who had marked skewed X-inactivation favouring the wild type allele (PMID: 8619554).
After consultation with Helen Brittain (Clinical Fellow, Genomics England) it has been concluded that it is not appropriate for XK to be green on the Childhood onset dystonia or chorea or related movement disorder panel, as the phenotype is not evident in childhood, but rather from the 4th decade of life (PMIDs: 11761473;8004674;11032622;11261514;33652783;30128557), therefore, variants in XK could be predictive of possible future conditions.

Created: 11 Aug 2022, 9:44 a.m. | Last Modified: 6 Sep 2022, 5:03 p.m.

Panel Version: 1.257

Publications

• 8619554

Green List (high evidence)

5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list

Created: 10 Sep 2020, 11:01 p.m.

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

Publications

• 11761473

Variants in this GENE are reported as part of current diagnostic practice