Peroxisomal disorders
Gene: FAR1
Two families reported only.Created: 20 Jul 2020, 10:05 a.m. | Last Modified: 20 Jul 2020, 10:05 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)
Publications
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.
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 individualCreated: 22 Aug 2016, 8:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder 616154
Publications
Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
This gene has been classified as Green List (High Evidence).
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
This gene has been classified as Green List (High Evidence).
Promoted to V1 3rd October 2016
This gene has been classified as Red List (Low Evidence).
FAR1 was created by sleigh
FAR1 was added to Peroxisomal disorderspanel. Sources: Literature