MRPL3

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

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Hypertrophic cardiomyopathy

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• combined oxidative phosphorylation defect type 9

  0.72

• neurodegenerative disease

  0.46

• disturbance of skin sensation

  0.32

• cutaneous lupus erythematosus

  0.29

• neonatal encephalopathy

  0.27

• inborn mitochondrial metabolism disorder

  0.19

• mitochondrial disease

  0.19

• hyperlipidemia

  0.13

• stroke disorder

  0.12

• alcohol drinking

  0.12

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