Activity
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| Adult onset dystonia, chorea or related movement disorder v4.10 | XK | Arina Puzriakova Classified gene: XK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.10 | XK | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.10 | XK | Arina Puzriakova Gene: xk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.9 | XK | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.9 | XK | Arina Puzriakova Added comment: Comment on publications: PMID:39315078 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.9 | XK | Arina Puzriakova Publications for gene: XK were set to 8619554; 21714011; 11761473; 17469188; 23192927; 37720304; 34487382; 35977449; 24098554; 39315078 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.8 | XK | Arina Puzriakova Classified gene: XK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.8 | XK | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.8 | XK | Arina Puzriakova Gene: xk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v4.7 | XK |
Arina Puzriakova gene: XK was added gene: XK was added to Adult onset dystonia, chorea or related movement disorder. Sources: Literature Q1_25_ promote_green tags were added to gene: XK. 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 8619554; 21714011; 11761473; 17469188; 23192927; 37720304; 34487382; 35977449; 24098554; 39315078 Phenotypes for gene: XK were set to McLeod syndrome, OMIM:300842 Review for gene: XK was set to GREEN Added comment: Numerous variants have been reported in cases of McLeod syndrome (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). McLeod syndrome causes a multi-system disorder. The presentation can resemble Huntington Disease. Typically primary manifestations are neurological (e.g. chorea, tics, parkinsonism, dystonia, seizures) and muscular (myopathy, peripheral neuropathy), some patients also exhibited cognitive issues, psychiatric symptoms (psychosis, delusions, depression, obsessive-compulsive features), and emotional lability. Onset is typically in the 4th decade of life and therefore appropriate for this panel. Sources: Literature |
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