Genes in panel

Inborn errors of metabolism

Gene: FAR1

Green List (high evidence)

FAR1 (fatty acyl-CoA reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 11 panels

1 review

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

Comment on list classification: In view of the normal metabolic screening (excluding very specific functional work, which will not be in routine NHS practice) there is no clear alignment with the metabolic panels and therefore FAR1 should be demoted from Green to Red at the next GMS panel update (discussed with Helen Brittain, Genomic England Clinical Team)
Created: 28 Jun 2021, 11:55 a.m. | Last Modified: 28 Jun 2021, 11:55 a.m.
Panel Version: 2.144
Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic (PMIDs: 25439727; 30561787) and monoallelic variants (PMID: 33239752) have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. FAR1-deficient patients had a profound deficiency of plasmalogens whereas the patients with the heterozygous de novo variants had elevated levels of ether lipids, including plasmalogens. Both MOI's are associated with similar phenotypes including DD/ID, spasticity, cataracts, and seizures.

All individuals (both mono- and biallelic cases) that has undergone metabolic investigations had normal results.
Created: 28 Jun 2021, 11:51 a.m. | Last Modified: 28 Jun 2021, 11:51 a.m.
Panel Version: 2.143

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Tags
Q2_21_rating
OMIM
616107
Clinvar variants
Variants in FAR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FAR1 were set to

28 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: far1 has been classified as Green List (High Evidence).

28 Jun 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: FAR1.

13 Apr 2021, Gel status: 3

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

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (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, 616154

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: FAR1 was added gene: FAR1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal