INF2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Proteinuric renal disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Unexplained kidney failure in young people

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Atypical haemolytic uraemic syndrome

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

Disease associations (Open Targets)

• focal segmental glomerulosclerosis 5

  0.81

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

  0.79

• Charcot-Marie-Tooth disease dominant intermediate E

  0.74

• focal segmental glomerulosclerosis

  0.61

• familial idiopathic steroid-resistant nephrotic syndrome

  0.55

• hereditary disease

  0.50

• kidney disorder

  0.47

• Proteinuria

  0.44

• Renal insufficiency

  0.44

• acute kidney injury

  0.37

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

Protein function (UniProt)

Diseases associated with INF2

Curated MONDO disease pages that list INF2 among their top associated genes.

• kidney disorderRare
• focal segmental glomerulosclerosisRare