CA5A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Hyperammonaemia

  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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

  0.78

• epilepsy

  0.37

• duodenal ulcer

  0.37

• urolithiasis

  0.24

• hereditary disease

  0.19

• placenta praevia

  0.19

• osteoarthritis

  0.13

• obstructive sleep apnea syndrome

  0.07

• multinodular goiter

  0.06

• musculoskeletal system disorder

  0.06

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

Protein function (UniProt)