ABCC8

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Congenital hyperinsulinism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Diabetes with additional phenotypes suggestive of a monogenic aetiology

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Familial diabetes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Monogenic diabetes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Neonatal diabetes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Neonatal diabetes - small panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Pulmonary arterial hypertension

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• type 2 diabetes mellitus

  0.86

• hyperinsulinemic hypoglycemia, familial, 1

  0.86

• diabetes mellitus, permanent neonatal 3

  0.81

• diabetes mellitus, transient neonatal, 2

  0.79

• diabetes mellitus

  0.78

• leucine-induced hypoglycemia

  0.76

• permanent neonatal diabetes mellitus

  0.72

• transient neonatal diabetes mellitus

  0.70

• autosomal dominant hyperinsulinism due to SUR1 deficiency

  0.70

• Hypoglycemia

  0.68

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

Protein function (UniProt)

Diseases associated with ABCC8

Curated MONDO disease pages that list ABCC8 among their top associated genes.

• type 2 diabetes mellitusRare
• diabetes mellitusRare