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  3. SLC34A3
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Renal Tubulopathies and related disorders

Gene: SLC34A3

Green List (high evidence)
SLC34A3 (solute carrier family 34 member 3)
EnsemblGeneIds (GRCh38): ENSG00000198569
EnsemblGeneIds (GRCh37): ENSG00000198569
OMIM: 609826, Gene2Phenotype
SLC34A3 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 32524022 Literature review with 29 affecteds from 21 compound het families (13 of whom were reported to have rickets) and 27 affecteds from 13 homozygote families. Typically presents with rickets and other bone abnormalities as well as nephrolithiasis.
Created: 1 Jun 2022, 9:14 p.m. | Last Modified: 1 Jun 2022, 9:14 p.m.
Panel Version: 0.64

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphataemic rickets with hypercalciuria, (MIM#241530)

Publications

Created: 1 Jun 2022, 9:14 p.m.
Last Modified: 1 Jun 2022, 9:14 p.m.
Panel version: Imported from Nephrolithiasis and Nephrocalcinosis panel version 0.64

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 32524022
Literature review with 29 affecteds from 21 compound het families (13 of whom were reported to have rickets) and 27 affecteds from 13 homozygote families, all of whom reported to have rickets
Created: 30 Jun 2021, 1:36 a.m. | Last Modified: 30 Jun 2021, 1:36 a.m.
Panel Version: 0.8145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatemic rickets with hypercalciuria, (MIM#241530)

Publications

Created: 30 Jun 2021, 1:36 a.m.
Last Modified: 30 Jun 2021, 1:36 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.8145

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
OMIM
609826
Clinvar variants
Variants in SLC34A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC34A3 was added gene: SLC34A3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC34A3 were set to 32524022 Phenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)