MRPS7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.53

• combined oxidative phosphorylation deficiency 34

  0.51

• Premature ovarian insufficiency

  0.33

• Sensorineural hearing impairment

  0.33

• Parkinson disease

  0.27

• Alzheimer disease

  0.27

• lysosomal storage disease

  0.26

• multiple sclerosis

  0.26

• neoplasm

  0.10

• cancer

  0.09

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