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Calcium and Phosphate disorders v0.69 | SLC12A1 | Chirag Patel Classified gene: SLC12A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Calcium and Phosphate disorders v0.69 | SLC12A1 | Chirag Patel Gene: slc12a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Calcium and Phosphate disorders v0.68 | SLC12A1 |
Chirag Patel gene: SLC12A1 was added gene: SLC12A1 was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A1 were set to PMID: 8640224, 9355073, 28095294 Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678 Review for gene: SLC12A1 was set to GREEN Added comment: Hypercalciuria and hypercalcemia seen in patients. Sources: Expert list |