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  2. Calcium and Phosphate disorders
  3. SLC34A1
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Calcium and Phosphate 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 Hypercalcaemia panel version 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 2 MIM#616963
OMIM
182309
Clinvar variants
Variants in SLC34A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc34a1 has been classified as Green List (High Evidence).

31 May 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963

31 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: SLC34A1 were set to

31 May 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: SLC34A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC34A1 was added gene: SLC34A1 was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: SLC34A1 was set to Unknown