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Prepair 1000+

Gene: SLC25A38

Green List (high evidence)
SLC25A38 (solute carrier family 25 member 38)
EnsemblGeneIds (GRCh38): ENSG00000144659
EnsemblGeneIds (GRCh37): ENSG00000144659
OMIM: 610819, Gene2Phenotype
SLC25A38 is in 11 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Hematological disorder characterized by the presence of ringed sideroblasts (bone marrow erythroid precursors containing pathologic iron deposits within mitochondria). Most affected individuals present in infancy with reticulocytopenic, microcytic anemia. Patients require regular blood transfusions and some require bone marrow transplant.
>90 families from diverse geographic and ethnic backgrounds have been described.
Created: 1 Jan 2025, 11:30 p.m. | Last Modified: 1 Jan 2025, 11:30 p.m.
Panel Version: 1.984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anemia, sideroblastic, 1, MIM #300751

Publications

Created: 1 Jan 2025, 11:30 p.m.
Last Modified: 1 Jan 2025, 11:30 p.m.
Panel version: 1.984

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Anaemia, sideroblastic, 1, MIM #300751
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a38 has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3) to Anaemia, sideroblastic, 1, MIM #300751

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A38 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A38 was added gene: SLC25A38 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)