PRODH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• hyperprolinemia type 1

  0.82

• hereditary disease

  0.48

• schizophrenia

  0.21

• neurodegenerative disease

  0.16

• neoplasm

  0.09

• breast cancer

  0.08

• breast carcinoma

  0.08

• cancer

  0.08

• renal carcinoma

  0.08

• melanoma

  0.08

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

Protein function (UniProt)