Hereditary spastic paraplegia - childhood onset

Gene: FAR1

Amber List (moderate 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)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update
Created: 4 May 2021, 2:05 p.m. | Last Modified: 4 May 2021, 2:05 p.m.
Panel Version: 2.30
Associated with relevant phenotype in OMIM and has a 'confirmed' disease confidence rating for 'Severe intellectual disability, epilepsy, and cataracts' in Gene2Phenotype.

Both biallelic and monoallelic variants have been linked to disease; both supported by functional data but showing distinct biochemical phenotypes. Spastic quadriparesis or spasticity were reported in 5/5 patients (4 families - 2 with same founder variant) with biallelic variants (PMIDs: 25439727; 30561787) and spastic paraparesis was a feature in 12/12 patients with heterozygous de novo variants (PMID: 33239752). Paediatric onset.
Sources: Literature
Created: 4 May 2021, 2:04 p.m.

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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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

4 May 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: far1 has been classified as Amber List (Moderate Evidence).

4 May 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: FAR1 was added gene: FAR1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q2_21_rating tags were added to gene: FAR1. Mode of inheritance for gene: FAR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FAR1 were set to 25439727; 30561787; 33239752 Phenotypes for gene: FAR1 were set to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Review for gene: FAR1 was set to GREEN