Peroxisomal disorders
Gene: FAR1EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 10 panels
3 reviews
Zornitza Stark (Australian Genomics)
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
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 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM: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
-
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- DDG2P
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Created
Sarah Leigh (Genomics England Curator)FAR1 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)FAR1 was added to Peroxisomal disorderspanel. Sources: Literature