Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Aminoacidopathy v1.125 | SLC7A5 | Zornitza Stark Marked gene: SLC7A5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v1.125 | SLC7A5 | Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v1.125 | SLC7A5 | Zornitza Stark Classified gene: SLC7A5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v1.125 | SLC7A5 | Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aminoacidopathy v1.113 | SLC7A5 |
Sangavi Sivagnanasundram gene: SLC7A5 was added gene: SLC7A5 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC7A5 was set to Unknown Publications for gene: SLC7A5 were set to 29884839 Phenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182) Review for gene: SLC7A5 was set to RED Added comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association. Sources: Other |