PIGO

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• hyperphosphatasia-intellectual disability syndrome

  0.75

• Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

  0.50

• hereditary disease

  0.42

• complex neurodevelopmental disorder

  0.37

• Hirschsprung disease

  0.12

• Aganglionic megacolon

  0.12

• Intellectual disability

  0.11

• sinoatrial node dysfunction and deafness

  0.05

• neoplasm

  0.02

• infection

  0.01

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

Protein function (UniProt)