PSAT1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

• Childhood onset dystonia, chorea or related movement disorder

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Neu-Laxova syndrome 2

  0.81

• Phosphoserine aminotransferase deficiency

  0.68

• Neu-Laxova syndrome

  0.63

• PSAT deficiency

  0.62

• neurometabolic disorder due to serine deficiency

  0.44

• Neu-Laxova syndrome 1

  0.37

• type 2 diabetes mellitus

  0.31

• smoking initiation

  0.27

• heart disorder

  0.25

• bronchial disorder

  0.23

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

Protein function (UniProt)