CHAT

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Congenital myaesthenic syndrome

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Congenital myasthenic syndromes

  0.80

• Presynaptic congenital myasthenic syndromes

  0.66

• congenital myasthenic syndrome

  0.56

• gastroesophageal reflux disease

  0.43

• Respiratory insufficiency

  0.43

• lactic acidosis

  0.43

• flatfoot

  0.43

• Decreased activity of the pyruvate dehydrogenase complex

  0.43

• External ophthalmoplegia

  0.43

• central sleep apnea syndrome

  0.43

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

Protein function (UniProt)