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  3. SLC25A38
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Metal Metabolism Disorders

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
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 205950 Anemia, sideroblastic, 2, pyridoxine-refractory
  • Sideroblastic anaemia - increased serum ferritin
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A38 was added gene: SLC25A38 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 21393332; 19412178; 24323989 Phenotypes for gene: SLC25A38 were set to 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Sideroblastic anaemia - increased serum ferritin