TUBGCP2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

  0.73

• Abnormality of neuronal migration

  0.38

• influenza A (H1N1)

  0.21

• autosomal recessive spondylocostal dysostosis

  0.07

• spondylolisthesis

  0.06

• Pilonidal sinus

  0.05

• microcephaly

  0.05

• Prata-Liberal-Goncalves syndrome

  0.05

• osteofibrous dysplasia

  0.05

• spondyloepiphyseal dysplasia tarda, autosomal dominant

  0.05

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

Protein function (UniProt)