MTR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• methylcobalamin deficiency type cblG

  0.82

• neural tube defects, folate-sensitive

  0.57

• homocystinuria without methylmalonic aciduria

  0.50

• methylmalonic aciduria and homocystinuria type cblG

  0.46

• Intellectual disability

  0.44

• hereditary disease

  0.42

• disorders of vitamin D metabolism

  0.42

• isolated spina bifida

  0.37

• methylmalonic aciduria and homocystinuria type cblE

  0.37

• homocystinuria

  0.33

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

Protein function (UniProt)