FANCI

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours

  BIALLELIC, autosomal or pseudoautosomal

• Childhood solid tumours cancer susceptibility

  BIALLELIC, autosomal or pseudoautosomal

• Confirmed Fanconi anaemia or Bloom syndrome

  BIALLELIC, autosomal or pseudoautosomal

• COVID-19 research

  BIALLELIC, autosomal or pseudoautosomal

• Cytopenias and congenital anaemias

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

+13 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Fanconi anemia complementation group I

  0.83

• Fanconi anemia

  0.82

• mitochondrial DNA depletion syndrome 4a

  0.57

• Alpers syndrome

  0.57

• mitochondrial disease

  0.53

• Sensory ataxic neuropathy - dysarthria - ophthalmoparesis

  0.52

• sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

  0.52

• Bone marrow hypocellularity

  0.50

• progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

  0.50

• mitochondrial neurogastrointestinal encephalomyopathy

  0.50

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

Protein function (UniProt)