DDG2P
Gene: SLC25A13

SLC25A13 (solute carrier family 25 member 13)
EnsemblGeneIds (GRCh38): ENSG00000004864
EnsemblGeneIds (GRCh37): ENSG00000004864
OMIM: 603859, Gene2Phenotype
SLC25A13 is in 10 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC25A13-related citrullinemia are definitive, biallelic_autosomal and loss of function (PMIDs: 29152073, 36599957, 37063661, 40992288). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03908.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0011601; OMIM:605814.0; SLC25A13-related citrullinemia

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

SLC25A13-related citrullinemia
OMIM:605814.0
MONDO:0011601

OMIM

603859

Clinvar variants

Variants in SLC25A13

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC25A13 was added gene: SLC25A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 29152073; 37063661; 40992288; 36599957 Phenotypes for gene: SLC25A13 were set to SLC25A13-related citrullinemia; OMIM:605814.0; MONDO:0011601

DDG2P Gene: SLC25A13