HK1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hyperinsulinism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Optic neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• neurodevelopmental disorder with visual defects and brain anomalies

  0.76

• non-spherocytic hemolytic anemia due to hexokinase deficiency

  0.75

• Charcot-Marie-Tooth disease type 4G

  0.71

• retinitis pigmentosa 79

  0.60

• retinitis pigmentosa

  0.50

• Retinal dystrophy

  0.48

• diabetes mellitus

  0.42

• type 2 diabetes mellitus

  0.39

• hereditary disease

  0.38

• congenital isolated hyperinsulinism

  0.37

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

Protein function (UniProt)