Groopman et al 2019 - Genes with diagnostic variants

Gene: SLC34A3

Red List (low evidence)

SLC34A3 (solute carrier family 34 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198569
EnsemblGeneIds (GRCh37): ENSG00000198569
OMIM: 609826, Gene2Phenotype
SLC34A3 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: SLC34A3; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Hypophosphatemic rickets with hypercalciuria; OMIM phenotype MIM No.: 241530; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review red
  • Literature
Phenotypes
  • MIM 241530
  • Nephropathy of unknown origin
  • Hypophosphatemic rickets with hypercalciuria
OMIM
609826
Clinvar variants
Variants in SLC34A3
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to SLC34A3.

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SLC34A3 was added gene: SLC34A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to MIM 241530; Nephropathy of unknown origin; Hypophosphatemic rickets with hypercalciuria