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  2. Congenital anaemias
  3. SLC25A38
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Congenital anaemias

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
  • Hereditary Sideroblastic Anemia
  • Sideroblastic anaemia
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
Complete
Panels with this gene

History Filter Activity

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A38 was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A38 was added to Congenital anaemiaspanel. Source: UKGTN

30 Sep 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal

30 Sep 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A38 was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC25A38 was added to Congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

SLC25A38 was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

SLC25A38 was added to Congenital anaemiaspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SLC25A38 was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen