OPLAH

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• 5-oxoprolinase deficiency

  0.76

• inborn errors of metabolism

  0.37

• autoimmune disorder of central nervous system

  0.21

• placenta praevia

  0.18

• late-onset Alzheimers disease

  0.15

• familial sleep-related hypermotor epilepsy

  0.12

• Dupuytren Contracture

  0.09

• early-onset non-syndromic cataract

  0.08

• retinitis pigmentosa

  0.07

• Leber congenital amaurosis

  0.07

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

Protein function (UniProt)