GLRX5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  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

• Pyruvate dehydrogenase (PDH) deficiency

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• sideroblastic anemia 3

  0.74

• Adult-onset autosomal recessive sideroblastic anemia

  0.74

• spasticity-ataxia-gait anomalies syndrome

  0.74

• autosomal recessive sideroblastic anemia

  0.54

• neurodegenerative disease

  0.44

• liver disorder

  0.24

• lymphatic system cancer

  0.23

• non-Hodgkin lymphoma

  0.23

• Waldenstrom macroglobulinemia

  0.08

• clonal hematopoiesis

  0.08

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

Protein function (UniProt)