FAR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bilateral congenital or childhood onset cataracts

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

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

• Peroxisomal disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• fatty acyl-CoA reductase 1 deficiency

  0.79

• vitamin deficiency disorder

  0.28

• vitamin D deficiency

  0.28

• parasitic infectious disease

  0.27

• Hodgkins lymphoma

  0.27

• myocardial infarction

  0.21

• hereditary disease

  0.19

• rheumatic disorder

  0.14

• myasthenia gravis

  0.12

• alcohol drinking

  0.11

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

Protein function (UniProt)