PIGT

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

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• multiple congenital anomalies-hypotonia-seizures syndrome 3

  0.84

• Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome

  0.70

• hereditary disease

  0.50

• paroxysmal nocturnal hemoglobinuria 2

  0.44

• Neurodevelopmental delay

  0.43

• multiple congenital anomalies-hypotonia-seizures syndrome

  0.37

• Multiple congenital anomalies - hypotonia - seizures syndrome

  0.37

• Global developmental delay

  0.26

• Seizure

  0.26

• paroxysmal nocturnal hemoglobinuria 1

  0.12

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

Protein function (UniProt)