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DDG2P

Gene: SLC13A1

Green List (high evidence)
SLC13A1 (solute carrier family 13 member 1)
EnsemblGeneIds (GRCh38): ENSG00000081800
EnsemblGeneIds (GRCh37): ENSG00000081800
OMIM: 606193, Gene2Phenotype
SLC13A1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC13A1-related hypersulfaturia and hyposulfatemia are moderate, biallelic_autosomal and loss of function (PMIDs: 36175384, 39925707). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03395.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease SLC13A1-associated hypersulfaturia and hyposulfatemia is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:36175384).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SLC13A1-associated hypersulfaturia and hyposulfatemia; SLC13A1-related hypersulfaturia and hyposulfatemia

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • SLC13A1-associated hypersulfaturia and hyposulfatemia
OMIM
606193
Clinvar variants
Variants in SLC13A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SLC13A1. Rating Changed from Red List (low evidence) to Green List (high evidence)

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC13A1 was added gene: SLC13A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A1 were set to 36175384 Phenotypes for gene: SLC13A1 were set to SLC13A1-associated hypersulfaturia and hyposulfatemia