SLC25A38

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Iron metabolism disorders - NOT common HFE mutations

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Adult-onset autosomal recessive sideroblastic anemia

  0.79

• autosomal recessive sideroblastic anemia

  0.75

• gestational diabetes

  0.26

• hereditary disease

  0.19

• bronchial disorder

  0.18

• hypothyroidism

  0.14

• acute lymphoblastic leukemia

  0.08

• mixed connective tissue disease

  0.02

• neoplasm

  0.02

• urolithiasis

  0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)