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Newborns main panel

Gene: SLC25A13

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
citrin deficiency curation results by ClinGen activity (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SLC25A13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Citrullinemia, type II, neonatal-onset for gene: SLC25A13

5 Jul 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC25A13. Added phenotypes Citrullinemia, type II, neonatal-onset for gene: SLC25A13 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

31 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to SLC25A13. Added phenotypes Citrullinemia, type II, neonatal-onset for gene: SLC25A13 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

5 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC25A13. Added phenotypes Citrullinemia, type II, neonatal-onset for gene: SLC25A13 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Citrullinemia, type II, neonatal-onset for gene: SLC25A13

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC25A13 was added gene: SLC25A13 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal