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  2. Renal Tubulopathies and related disorders
  3. SLC34A1
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Renal Tubulopathies and related disorders

Gene: SLC34A1

Green List (high evidence)
SLC34A1 (solute carrier family 34 member 1)
EnsemblGeneIds (GRCh38): ENSG00000131183
EnsemblGeneIds (GRCh37): ENSG00000131183
OMIM: 182309, Gene2Phenotype
SLC34A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 6 Apr 2021, 2:25 a.m. | Last Modified: 6 Apr 2021, 2:25 a.m.
Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercalcaemia, infantile, 2 MIM#616963

Publications

Created: 6 Apr 2021, 2:25 a.m.
Last Modified: 6 Apr 2021, 2:25 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Hypercalcaemia panel version 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286
  • Hypercalcaemia, infantile, 2 MIM#616963
OMIM
182309
Clinvar variants
Variants in SLC34A1
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: SLC34A1 was added gene: SLC34A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC34A1 were set to 33099630; 32216560; 31188746; 30943683; 26047794; 33516786; 30778725; 12324554; 32866123 Phenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Hypercalcaemia, infantile, 2 MIM#616963