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  3. SLC34A1
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Newborns main panel

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 6 panels

1 review

Arina Puzriakova (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF)
Created: 31 Dec 2025, 2:36 p.m. | Last Modified: 31 Dec 2025, 2:36 p.m.
Panel Version: 0.499
PMID: 38504242, PMID: 26047794 (15 cases)
Created: 31 Dec 2025, 2:28 p.m. | Last Modified: 31 Dec 2025, 2:28 p.m.
Panel Version: 0.498
Created: 31 Dec 2025, 2:27 p.m.
Last Modified: 31 Dec 2025, 2:27 p.m.
Panel version: 0.499

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypercalcemia, infantile, 2
OMIM
182309
Clinvar variants
Variants in SLC34A1
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SLC34A1 was added gene: SLC34A1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: SLC34A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A1 were set to Hypercalcemia, infantile, 2