| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aminoacidopathy v1.128 | SLC6A20 | Zornitza Stark Marked gene: SLC6A20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | SLC6A20 | Zornitza Stark Gene: slc6a20 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | SLC6A20 | Zornitza Stark Classified gene: SLC6A20 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | SLC6A20 | Zornitza Stark Gene: slc6a20 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | SLC6A20 |
Sangavi Sivagnanasundram gene: SLC6A20 was added gene: SLC6A20 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC6A20 were set to 36820062; 19033659; 24816252 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria MONDO:0007677 Review for gene: SLC6A20 was set to RED Added comment: Only one family reported with a rare missense variant and a clinical phenotype consistent with an inborn error of amino acid metabolism. Cases have been reported in 19033659 and 24816252 however the variant is too common for a mendelian disease. No other new publications have been released supporting the gene-disease association with relation to evidence of a biochemical abnormality. Sources: Other |
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