MRPS22

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  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

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• hypotonia with lactic acidemia and hyperammonemia

  0.79

• 46,XX gonadal dysgenesis

  0.63

• neurodegenerative disease

  0.52

• 46 XX gonadal dysgenesis

  0.52

• hereditary disease

  0.47

• androgenetic alopecia

  0.43

• mitochondrial disease

  0.41

• inborn mitochondrial metabolism disorder

  0.37

• combined oxidative phosphorylation deficiency

  0.37

• lobe attachment

  0.35

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