Undiagnosed metabolic disorders
Gene: SLC12A3
Promoted from Amber to Green. SLC12A3 is associated with an appropriate phenotype on OMIM. There are >3 unrelated cases listed on OMIM. Therefore, enough evidence for this gene to be promoted to Green status.Created: 31 Oct 2019, 1:58 p.m. | Last Modified: 31 Oct 2019, 1:58 p.m.
Panel Version: 1.408
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gitelman syndrome, 263800
Publications
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.Created: 10 Aug 2023, 3:13 p.m. | Last Modified: 10 Aug 2023, 3:13 p.m.
Panel Version: 1.596
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular acidosis
Tag monogenic - polygenic was removed from gene: SLC12A3. Tag monogenic-polygenic tag was added to gene: SLC12A3.
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
Publications for gene: SLC12A3 were set to 27604308
Tag monogenic - polygenic tag was added to gene: SLC12A3.
Gene: slc12a3 has been classified as Green List (High Evidence).
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
SLC12A3 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
SLC12A3 was created by sleigh
SLC12A3 was added to Undiagnosed metabolic disorderspanel. Sources: Literature