Calcium and Phosphate disorders
Gene: SLC34A3

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. Presents with rickets and nephrolithiasis.
Created: 1 Jun 2022, 9:12 p.m. | Last Modified: 1 Jun 2022, 9:12 p.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphataemic rickets with hypercalciuria, (MIM#241530)

Publications

32524022

Created: 1 Jun 2022, 9:12 p.m.
Last Modified: 1 Jun 2022, 9:12 p.m.
Panel version: 0.35

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

32524022

Created: 30 Jun 2021, 1:36 a.m.
Last Modified: 30 Jun 2021, 1:36 a.m.
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

Phenotypes

Hypophosphataemic rickets with hypercalciuria, (MIM#241530)

OMIM

609826

Clinvar variants

Variants in SLC34A3

Penetrance

None

Publications

32524022

Panels with this gene