PI4KA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Primary immunodeficiency or monogenic inflammatory bowel disease

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

  0.75

• spastic paraplegia 84, autosomal recessive

  0.69

• multiple intestinal atresia

  0.59

• neurodegenerative disease

  0.49

• heparin cofactor 2 deficiency

  0.48

• CEDNIK syndrome

  0.47

• PI4KA-related disorder

  0.47

• gastrointestinal defect and immunodeficiency syndrome

  0.37

• pleural mesothelioma

  0.37

• bilateral perisylvian polymicrogyria

  0.37

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

Protein function (UniProt)