FAR1

fatty acyl-CoA reductase 1
OMIM: 616107, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green FAR1 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

Amber FAR1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.74
Latest signed off version: v2.2 (19 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
  • Q2_21_rating

Amber FAR1 in Hereditary spastic paraplegia - childhood onset


Version 2.40
Latest signed off version: v2.18 (8 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
  • Q2_21_rating

Green FAR1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.460

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

Green FAR1 in Inborn errors of metabolism


Version 2.141
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

    Green FAR1 in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

    Green FAR1 in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS

    Amber FAR1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.374
    Latest signed off version: v2.2 (13 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

    Green FAR1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
    Tags
    • Q2_21_expert_review
    • Q2_21_MOI

    Red FAR1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green FAR1 in Severe Paediatric Disorders


    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154