HBG2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Rare anaemia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Sickle cell, thalassaemia and other haemoglobinopathies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenias and congenital anaemias

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• cyanosis, transient neonatal

  0.77

• Hereditary persistence of fetal hemoglobin - beta-thalassemia

  0.67

• hemoglobinopathy Toms River

  0.63

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

  0.60

• hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

  0.37

• beta thalassemia

  0.34

• malaria

  0.08

• Sepsis

  0.06

• hemoglobin E disease

  0.06

• anemia

  0.06

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

Protein function (UniProt)