MRPS34

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• Mitochondrial disorder due to a defect in mitochondrial protein synthesis

  0.73

• hereditary disease

  0.47

• neurodegenerative disease

  0.37

• Leigh syndrome

  0.31

• mitochondrial disease

  0.12

• autosomal recessive limb-girdle muscular dystrophy type 2C

  0.05

• Emery-Dreifuss muscular dystrophy

  0.05

• congenital myasthenic syndromes with glycosylation defect

  0.05

• carnitine palmitoyl transferase II deficiency, severe infantile form

  0.04

• TMEM199-CDG

  0.04

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

Protein function (UniProt)