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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