Likely inborn error of metabolism - targeted testing not possible
Gene: FAR1The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 2:05 p.m. | Last Modified: 14 Mar 2022, 2:05 p.m.
Panel Version: 2.229
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
Tag Q2_21_rating was removed from gene: FAR1.
Source Expert Review Red was added to FAR1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Publications for gene: FAR1 were set to
Gene: far1 has been classified as Green List (High Evidence).
Tag Q2_21_rating tag was added to gene: FAR1.
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
Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Phenotypes for gene: FAR1 were changed from to Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
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