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Likely inborn error of metabolism v4.55 SLC12A3 Achchuthan Shanmugasundram Tag monogenic - polygenic was removed from gene: SLC12A3.
Tag monogenic-polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism v4.46 SLC12A3 Sarah Leigh Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis to Gitelman syndrome, OMIM: 263800; Gitelman syndrome, MONDO:0009904
Likely inborn error of metabolism v4.45 SLC12A3 Sarah Leigh Tag monogenic-polygenic was removed from gene: SLC12A3.
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism v4.45 SLC12A3 Sarah Leigh Publications for gene: SLC12A3 were set to 27604308
Likely inborn error of metabolism v4.44 SLC12A3 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A3.
Likely inborn error of metabolism v4.44 SLC12A3 Sarah Leigh commented on gene: SLC12A3: Heterozygous digenic SLC12A3 and CLCNKB variants have been associated with a variant of Gitelman syndrome (PMID: 26770037;30999883). However, the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Likely inborn error of metabolism v1.389 SLC12A3 Catherine Snow Classified gene: SLC12A3 as Green List (high evidence)
Likely inborn error of metabolism v1.389 SLC12A3 Catherine Snow Gene: slc12a3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.388 SLC12A3 Catherine Snow Classified gene: SLC12A3 as Green List (high evidence)
Likely inborn error of metabolism v1.388 SLC12A3 Catherine Snow Gene: slc12a3 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.387 SLC12A3 Catherine Snow reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22009145; Phenotypes: Gitelman syndrome, 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.47 SLC12A3 Ivone Leong Source NHS GMS was added to SLC12A3.
Source London North GLH was added to SLC12A3.
Likely inborn error of metabolism v0.4 SLC12A3 Ellen McDonagh gene: SLC12A3 was added
gene: SLC12A3 was added to Inborn errors of metabolism. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A3 were set to 27604308
Phenotypes for gene: SLC12A3 were set to Gitelman syndrome (Disorder of magnesium metabolism); Renal tubular acidosis