PNPO

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

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

• Neurotransmitter disorders

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• pyridoxal phosphate-responsive seizures

  0.81

• hereditary disease

  0.49

• Seizure

  0.40

• neuronopathy, distal hereditary motor, type 5A

  0.34

• Growth delay

  0.33

• fetal growth restriction

  0.33

• Global developmental delay

  0.19

• type 1 diabetes mellitus

  0.11

• neoplasm

  0.09

• cancer

  0.08

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

Protein function (UniProt)