PIK3R2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hydrocephalus

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Malformations of cortical development

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Neurological segmental overgrowth

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+4 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

  0.79

• megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1

  0.77

• cancer

  0.59

• megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

  0.51

• overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

  0.46

• Seizure

  0.44

• breast cancer

  0.42

• hereditary disease

  0.42

• non-small cell lung carcinoma

  0.40

• neurodegenerative disease

  0.37

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

Protein function (UniProt)