ABCB7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Cytopenias and congenital anaemias

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Hereditary ataxia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Iron metabolism disorders - NOT common HFE mutations

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Mitochondrial disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Possible mitochondrial disorder - nuclear genes

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• X-linked sideroblastic anemia with ataxia

  0.82

• sideroblastic anemia

  0.37

• hereditary disease

  0.34

• spinocerebellar ataxia type 1

  0.33

• mitochondrial disease

  0.19

• inborn mitochondrial metabolism disorder

  0.19

• epilepsy

  0.12

• myelodysplastic syndrome

  0.10

• myelodysplastic syndrome with ring sideroblasts

  0.06

• cardiac hypertrophy

  0.05

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

Protein function (UniProt)