Childhood onset dystonia, chorea or related movement disorder
Gene: XK
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
5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert listCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
Gene: xk has been classified as Red List (Low Evidence).
Tag Q3_22_rating was removed from gene: XK. Tag Q3_22_MOI was removed from gene: XK.
Publications for gene: XK were set to 11761473; 30128557; 8004674; 8619554
Gene: xk has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: XK. Tag Q3_22_MOI tag was added to gene: XK.
Gene: xk has been classified as Amber List (Moderate Evidence).
Publications for gene: XK were set to 11761473; 30128557; 8004674
Publications for gene: XK were set to 11761473; 30128557
Publications for gene: XK were set to 11761473
Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease MIM#300842 to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945
gene: XK was added gene: XK was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: XK were set to 11761473 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease MIM#300842 Review for gene: XK was set to GREEN gene: XK was marked as current diagnostic