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Childhood onset dystonia, chorea or related movement disorder v1.258 XK Sarah Leigh Classified gene: XK as Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v1.258 XK Sarah Leigh Added comment: Comment on list classification: Not appropriate for this panel, as older onset.
Childhood onset dystonia, chorea or related movement disorder v1.258 XK Sarah Leigh Gene: xk has been classified as Red List (Low Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Tag Q3_22_rating was removed from gene: XK.
Tag Q3_22_MOI was removed from gene: XK.
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh edited their review of gene: XK: Changed rating: RED
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh changed review comment from: 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 would be predictive of possible future conditions.; to: 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.
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh changed review comment from: 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).; to: 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 would be predictive of possible future conditions.
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Deleted their comment
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Deleted their comment
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Added comment: Comment on publications: 11761473;8004674;11032622;11261514;33652783;30128557;8619554
Childhood onset dystonia, chorea or related movement disorder v1.257 XK Sarah Leigh Publications for gene: XK were set to 11761473; 30128557; 8004674; 8619554
Childhood onset dystonia, chorea or related movement disorder v1.246 XK Sarah Leigh Classified gene: XK as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.246 XK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.246 XK Sarah Leigh Gene: xk has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.245 XK Sarah Leigh Deleted their comment
Childhood onset dystonia, chorea or related movement disorder v1.245 XK Sarah Leigh Tag Q3_22_rating tag was added to gene: XK.
Tag Q3_22_MOI tag was added to gene: XK.
Childhood onset dystonia, chorea or related movement disorder v1.245 XK Sarah Leigh Classified gene: XK as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.245 XK Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Childhood onset dystonia, chorea or related movement disorder v1.245 XK Sarah Leigh Gene: xk has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.244 XK Sarah Leigh Publications for gene: XK were set to 11761473; 30128557; 8004674
Childhood onset dystonia, chorea or related movement disorder v1.243 XK Sarah Leigh reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8619554; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.243 XK Sarah Leigh Publications for gene: XK were set to 11761473; 30128557
Childhood onset dystonia, chorea or related movement disorder v1.242 XK Sarah Leigh Publications for gene: XK were set to 11761473
Childhood onset dystonia, chorea or related movement disorder v1.241 XK Sarah Leigh 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
Childhood onset dystonia, chorea or related movement disorder v1.51 XK Zornitza Stark 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
Added comment: 5 out of 13 cases had dystonia as a feature of the condition.
Sources: Expert list