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| Unexplained young onset end-stage renal disease v0.29 | SLC3A1 | Eleanor Williams Classified gene: SLC3A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.29 | SLC3A1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.29 | SLC3A1 | Eleanor Williams Gene: slc3a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.28 | SLC3A1 |
Eleanor Williams gene: SLC3A1 was added gene: SLC3A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Cystinuria 220100 Added comment: Adding gene to the panel on recommendation of Genomics England clinical team Sources: Other |
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