MECR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Optic neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Structural basal ganglia disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

  0.80

• optic atrophy 16

  0.48

• neurodegenerative disease

  0.45

• optic atrophy

  0.39

• Autosomal recessive isolated optic atrophy

  0.37

• mitochondrial disease

  0.33

• nervous system benign neoplasm

  0.28

• placental abruption

  0.23

• ankylosing spondylitis

  0.22

• head injury

  0.22

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

Protein function (UniProt)