Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: XK
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).Created: 11 Aug 2022, 9:43 a.m. | Last Modified: 11 Aug 2022, 9:43 a.m.
Panel Version: 1.79
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
McLeod syndrome causes a multi-system disorder. The presentation can resemble Huntington Disease with movement disorder, psychiatric symptoms and cognitive impairment.
Sources: LiteratureCreated: 3 Aug 2022, 12:43 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
Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis
Publications
Gene: xk has been classified as Green List (High Evidence).
Publications for gene: XK were set to 30128557; 20301528
Phenotypes for gene: XK were changed from Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis 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 Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Literature 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 30128557; 20301528 Phenotypes for gene: XK were set to Chorea; Dystonia; Cognitive impairment; Myopathy; Cardiomyopathy; Peripheral neuropathy; Seizures; Acanthocytosis; Compensated haemolysis Penetrance for gene: XK were set to Complete Review for gene: XK was set to GREEN