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  3. SLC13A5
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Mitochondrial disorders

Gene: SLC13A5

Red List (low evidence)
SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

There is no evidence for this gene being involved with mitochondrial disorders.
Created: 16 Apr 2025, 12:39 p.m. | Last Modified: 16 Apr 2025, 12:39 p.m.
Panel Version: 8.24
Created: 16 Apr 2025, 12:39 p.m.
Last Modified: 16 Apr 2025, 12:39 p.m.
Panel version: 8.24

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

Green List (high evidence)

The SLC13A5 gene encodes a tricarboxylate plasma transporter with a preference for citrate. The SLC13A5 gene should be include in Mitochondrial disorder panel because it is included in International Classification of Inborn Metabolic Disorders (ICIMD), Disorders of the Krebs cycle.
Sources: Literature
Created: 21 Jul 2021, 7:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Plasma membrane citrate transporter deficiency; Epileptic encephalopathy; Delayed psychomotor development.

Publications

Created: 21 Jul 2021, 7:31 a.m.

Panel version: 2.47

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Plasma membrane citrate transporter deficiency
  • Epileptic encephalopathy
  • Delayed psychomotor development.
OMIM
608305
Clinvar variants
Variants in SLC13A5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Apr 2025, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc13a5 has been classified as Red List (Low Evidence).

21 Jul 2021, Gel status: 0

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

Andžela Lazdāne (Children's Clinical University Hospital of Latvia)

gene: SLC13A5 was added gene: SLC13A5 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to PMID: 33340416 Phenotypes for gene: SLC13A5 were set to Plasma membrane citrate transporter deficiency; Epileptic encephalopathy; Delayed psychomotor development. Penetrance for gene: SLC13A5 were set to Complete Review for gene: SLC13A5 was set to GREEN