CARS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Combined oxidative phosphorylation defect type 27

  0.75

• neurodegenerative disease

  0.55

• hereditary disease

  0.47

• atrial fibrillation

  0.33

• coronary artery disorder

  0.31

• temporomandibular joint disorder

  0.28

• Parkinson disease

  0.24

• nephritis

  0.24

• ovarian neoplasm

  0.24

• bone remodeling disease

  0.23

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

Protein function (UniProt)