PIGA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital disorders of glycosylation

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Thrombophilia with a likely monogenic cause

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• multiple congenital anomalies-hypotonia-seizures syndrome 2

  0.80

• paroxysmal nocturnal hemoglobinuria 1

  0.75

• Multiple congenital anomalies-hypotonia-seizures syndrome type 2

  0.65

• ferro-cerebro-cutaneous syndrome

  0.60

• paroxysmal nocturnal hemoglobinuria

  0.53

• infantile spasms

  0.37

• epilepsy of infancy with migrating focal seizures

  0.37

• multiple congenital anomalies-hypotonia-seizures syndrome

  0.37

• malignant migrating partial seizures of infancy

  0.37

• Multiple congenital anomalies - hypotonia - seizures syndrome

  0.37

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

Protein function (UniProt)