OLA1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• pilocytic astrocytoma

  0.32

• smoking initiation

  0.31

• urinary system disorder

  0.29

• neurodevelopmental disorder

  0.27

• Abnormality of the skeletal system

  0.27

• Ehlers-Danlos syndrome, hypermobility type

  0.26

• microcephaly

  0.26

• urolithiasis

  0.24

• alcohol drinking

  0.24

• brain cancer

  0.22

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

Protein function (UniProt)