Activity
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10 actions
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| Hereditary neuropathy or pain disorder v6.148 | AMACR |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: AMACR. Tag Q3_24_NHS_review was removed from gene: AMACR. |
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| Hereditary neuropathy or pain disorder v6.148 | AMACR | Sarah Leigh edited their review of gene: AMACR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.147 | AMACR |
Sarah Leigh Source NHS GMS was added to AMACR. Source Expert Review Green was added to AMACR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v5.60 | AMACR |
Sarah Leigh Tag Q3_24_promote_green tag was added to gene: AMACR. Tag Q3_24_NHS_review tag was added to gene: AMACR. |
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| Hereditary neuropathy or pain disorder v5.60 | AMACR | Sarah Leigh reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.60 | AMACR | Sarah Leigh Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.59 | AMACR | Sarah Leigh Phenotypes for gene: AMACR were changed from cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa to Alpha-methylacyl-CoA racemase deficiency, OMIM:614307; alpha-methylacyl-CoA racemase deficiency, MONDO:0013681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.58 | AMACR | Sarah Leigh Classified gene: AMACR as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.58 | AMACR | Sarah Leigh Gene: amacr has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.16 | AMACR |
Alexander Rossor gene: AMACR was added gene: AMACR was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 21576695; 10655068; 20821052; 18032455 Phenotypes for gene: AMACR were set to cerebellar ataxia; peripheral neuropathy; seizures; cataracts; retinitis pigmentosa Penetrance for gene: AMACR were set to Complete Review for gene: AMACR was set to GREEN Added comment: multipel reports with peripheral neuropathy Sources: Expert list |
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