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| Adult onset neurodegenerative disorder v3.49 | XK | Arina Puzriakova Tag Q3_22_rating was removed from gene: XK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.49 | XK | Arina Puzriakova edited their review of gene: XK: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.48 | XK |
Arina Puzriakova Source NHS GMS was added to XK. Source Expert Review Green was added to XK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset neurodegenerative disorder v2.277 | XK | Arina Puzriakova Tag Q3_22_rating tag was added to gene: XK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.277 | XK | Arina Puzriakova Classified gene: XK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.277 | XK | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated Green at the next major review. Neurodegenerative component resembling Huntington disease becomes apparent in older individuals. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.277 | XK | Arina Puzriakova Gene: xk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.276 | XK | Arina Puzriakova Entity copied from Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.79 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.276 | XK |
Arina Puzriakova gene: XK was added gene: XK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green,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; 8004674 Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, OMIM:300842; McLeod neuroacanthocytosis syndrome, MONDO:0018945 Penetrance for gene: XK were set to Complete |
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