Activity
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10 actions
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| Likely inborn error of metabolism v2.229 | FXN_GAA | Sarah Leigh commented on STR: FXN_GAA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.226 | FXN_GAA | Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v2.133 | FXN_GAA | Sarah Leigh Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v1.47 | GAA |
Ivone Leong Source NHS GMS was added to GAA. Source London North GLH was added to GAA. |
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| Likely inborn error of metabolism v1.19 | GAA | Louise Daugherty Phenotypes for gene: GAA were changed from to Glycogen storage disease II, 232300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.24 | FXN_GAA | Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.24 | FXN_GAA | Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.23 | FXN_GAA |
Louise Daugherty STR: FXN_GAA was added STR: FXN_GAA was added to Inborn errors of metabolism. Sources: Expert list STR tags were added to STR: FXN_GAA. Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300 Review for STR: FXN_GAA was set to GREEN Added comment: Source PanelApp panels : Mitochondrial disorders v1.86 Sources: Expert list |
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| Likely inborn error of metabolism v0.4 | GAA |
Ellen McDonagh gene: GAA was added gene: GAA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal |
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| Likely inborn error of metabolism v0.4 | COA3 |
Ellen McDonagh gene: COA3 was added gene: COA3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: COA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA3 were set to Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. |
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