PSPH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  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)

• PSPH deficiency

  0.73

• 3-phosphoserine phosphatase deficiency

  0.73

• neurodegenerative disease

  0.54

• Neu-Laxova syndrome 1

  0.47

• Neu-Laxova syndrome

  0.39

• peripheral neuropathy

  0.28

• neurometabolic disorder due to serine deficiency

  0.21

• hereditary disease

  0.19

• intracranial hemorrhage

  0.18

• autonomic nervous system disorder

  0.13

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

Protein function (UniProt)