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| Cardiomyopathy_Paediatric v1.10 | FXN_FRDA_GAA | Zornitza Stark Marked STR: FXN_FRDA_GAA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.10 | FXN_FRDA_GAA | Zornitza Stark Str: fxn_frda_gaa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.10 | Zornitza Stark Copied STR FXN_FRDA_GAA from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.10 | FXN_FRDA_GAA |
Zornitza Stark STR: FXN_FRDA_GAA was added STR: FXN_FRDA_GAA was added to Cardiomyopathy_Paediatric. Sources: Expert list,Expert Review Green,Expert Review Green,Expert list paediatric-onset tags were added to STR: FXN_FRDA_GAA. Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916 Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300 |
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| Cardiomyopathy_Paediatric v1.0 | GAA | Gene migrated from ENSG00000171298 to ENSG00000171298 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | GAA |
Zornitza Stark gene: GAA was added gene: GAA was added to Cardiomyopathy_Paediatric. Sources: London South GLH,MetBioNet,Expert Review Green,NHS GMS,South West GLH Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to HCM, mixed; Glycogen storage disease II, 232300; syndromic HCM; Hypotonia, muscle weakness, progressive respiratory failure; Glycogen storage disease type II (Pompe disease) |
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