POR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Differences in sex development

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

  0.83

• Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

  0.81

• congenital adrenal hyperplasia

  0.53

• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

  0.44

• coffee consumption

  0.42

• hereditary disease

  0.42

• autoimmune disorder of central nervous system

  0.31

• ovarian neoplasm

  0.28

• substance-related disorder

  0.27

• Fine-Lubinsky syndrome

  0.27

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

Protein function (UniProt)