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| Renal Macrocystic Disease v2.0 | SLC34A3 |
Sarah Ostrowski gene: SLC34A3 was added gene: SLC34A3 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC34A3 were set to PMID: 35386604; 37981601 Phenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Review for gene: SLC34A3 was set to GREEN gene: SLC34A3 was marked as current diagnostic Added comment: PMID: 35386604: case series of individuals with hypophosphatemic rickets with hypercalciuria AND kidney cysts, reports 4 unrelated individuals with biallelic SLC34A3 variants and multiple kidney cysts. PMID: 37981601: another 2 HHRH patients from the same family with biallelic variants, also reported with renal cysts. Sources: Literature |
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