MGME1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial DNA maintenance disorder

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• mitochondrial DNA depletion syndrome 11

  0.73

• Progressive external ophthalmoplegia - myopathy - emaciation

  0.63

• inborn mitochondrial metabolism disorder

  0.37

• mitochondrial disease

  0.37

• hereditary disease

  0.19

• hypothyroidism

  0.14

• Parkinson disease

  0.14

• Hypercholesterolemia

  0.13

• metabolic disease

  0.12

• myxedema

  0.11

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

Protein function (UniProt)