Peroxisomal disorders

Gene: FAR1

Green List (high evidence)

FAR1 (fatty acyl-CoA reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Due to feedback from expert reviewer and internal discussion, this gene was upgraded from red to green after promotion of the panel to version 1.
Created: 6 Oct 2016, 1:19 p.m.

Sarah Leigh (Genomics England Curator)

Ian Berry commented: I think this is a well-characterised disease gene so it would probably be suitable for the green list. (3/10/2016)
Created: 5 Oct 2016, 1:12 p.m.
Associated with phenotype in OMIM and G2P. Three variants reported in two as compound heterozygotes in two sibblings and one as a homozygote in an unrelated individual
Created: 22 Aug 2016, 8:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder 616154

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder 616154
OMIM
616107
Clinvar variants
Variants in FAR1
Penetrance
Complete
Publications
  • 25439727
  • model of function postulated by Honsho et al. (J. Biol. Chem. 285: 8537-8542, 2010) for the protein
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FAR1 were set to 25439727;model of function postulated by Honsho et al. (J. Biol. Chem. 285: 8537-8542, 2010) for the protein

6 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Oct 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FAR1 was created by sleigh

22 Aug 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

FAR1 was added to Peroxisomal disorderspanel. Sources: Literature