MOCS1

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

  0.83

• sulfite oxidase deficiency due to molybdenum cofactor deficiency

  0.66

• encephalopathy due to sulfite oxidase deficiency

  0.46

• alcohol drinking

  0.41

• neurodegenerative disease

  0.28

• atrial fibrillation

  0.25

• Abnormal toe morphology

  0.25

• complex regional pain syndrome

  0.24

• major depressive disorder

  0.21

• septic shock

  0.20

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

Protein function (UniProt)