This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
Gene: SLC25A38
SLC25A38 (solute carrier family 25 member 38)
EnsemblGeneIds (GRCh38): ENSG00000144659
EnsemblGeneIds (GRCh37): ENSG00000144659
OMIM: 610819, Gene2Phenotype
SLC25A38 is in 11 panels
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
-
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Sideroblastic anaemia
- ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
- OMIM
- 610819
- Clinvar variants
- Variants in SLC25A38
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
30 Sep 2015, Gel status: 1
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: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLC25A38 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
12 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLC25A38 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Eligibility statement prior genetic testing