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Newborns main panel

Gene: SLC25A38

Amber List (moderate evidence)
SLC25A38 (solute carrier family 25 member 38)
EnsemblGeneIds (GRCh38): ENSG00000144659
EnsemblGeneIds (GRCh37): ENSG00000144659
OMIM: 610819, Gene2Phenotype
SLC25A38 is in 11 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
PMID: 19412178 - 3 families and 12 other individuals
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

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC25A38. Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC25A38. Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC25A38. Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC25A38. Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SLC25A38. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC25A38 was added gene: SLC25A38 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal