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Skeletal dysplasia

Gene: SLC13A1

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39925707 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 17 Mar 2025, 3:20 p.m. | Last Modified: 17 Mar 2025, 3:20 p.m.
Panel Version: 7.29
PMID: 39925707 reports five biallelic SLC13A1 variants in five children with skeletal phenotypes from four unrelated families. Inheritance of the variants from the parents has been established in all cases. Functional studies suggested that the SLC13A1 variants resulted in complete loss of sulfate transport activity, evidence of this was seen when two of the probands were tested and found to have reduction in plasma sulfate level and/or increase in urinary sulfate excretion (PMID: 39925707).
Sources: Literature
Created: 17 Mar 2025, 3:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
impaired sulfate transport and skeletal dysplasia

Publications

Created: 17 Mar 2025, 3:18 p.m.

Panel version: 7.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • impaired sulfate transport and skeletal dysplasia
Tags
gene-checked Q1_25_ promote_green
OMIM
606193
Clinvar variants
Variants in SLC13A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: SLC13A1.

17 Mar 2025, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC13A1 were set to 39925707

17 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc13a1 has been classified as Amber List (Moderate Evidence).

17 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SLC13A1 was added gene: SLC13A1 was added to Skeletal dysplasia. Sources: Literature Q1_25_ promote_green tags were added to gene: SLC13A1. Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A1 were set to 39925707 Phenotypes for gene: SLC13A1 were set to impaired sulfate transport and skeletal dysplasia Review for gene: SLC13A1 was set to GREEN