FAR1

fatty acyl-CoA reductase 1
OMIM: 616107, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green FAR1 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cataracts, spastic paraparesis, and speech delay, MIM#619338
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154

Green FAR1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cataracts, spastic paraparesis, and speech delay MIM#619338

Green FAR1 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
  • Cataracts, spastic paraparesis, and speech delay, MIM#619338

Green FAR1 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.53

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)
    • Cataracts, spastic paraparesis, and speech delay, MIM#619338

    Amber FAR1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154

    Green FAR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
    • Cataracts, spastic paraparesis, and speech delay, MIM#619338

    Green FAR1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.76

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cataracts, spastic paraparesis, and speech delay, MIM#619338
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154

    Green FAR1 in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    • Genetic Health Queensland
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
    • Cataracts, spastic paraparesis, and speech delay, MIM#619338