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Renal Tubulopathies and related disorders v0.4 | KCNJ16 |
Zornitza Stark gene: KCNJ16 was added gene: KCNJ16 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ16 were set to 33811157; 33840812 Phenotypes for gene: KCNJ16 were set to deafness; Renal tubulopathy; Inherited renal tubular disease, MONDO:0015962, KCNJ16-related |
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Renal Tubulopathies and related disorders v0.4 | KCNJ10 |
Zornitza Stark gene: KCNJ10 was added gene: KCNJ10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ10 were set to 21849804; 19420365; 19289823; 11466414 Phenotypes for gene: KCNJ10 were set to SESAME syndrome, MIM# 612780 |
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Renal Tubulopathies and related disorders v0.4 | KCNJ1 |
Zornitza Stark gene: KCNJ1 was added gene: KCNJ1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNJ1 were set to 19096086; 12086641; 8841184; 9580661; 12122007; 7635463 Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, MIM#241200 |