Skeletal dysplasia
Gene: SLC34A3

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

1 review

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

UKGTN
Expert Review Green
Radboud University Medical Center, Nijmegen
NHS GMS
Expert list
Emory Genetics Laboratory

Phenotypes

Hypophosphatemic rickets with hypercalciuria 241530

OMIM

609826

Clinvar variants

Variants in SLC34A3

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC34A3 was added gene: SLC34A3 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria 241530

Skeletal dysplasia Gene: SLC34A3