Hereditary spastic paraplegia - childhood onsetGene: FAR1
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 affecting the Arg480 residue (PMID: 33239752). Paediatric onset.
Created: 4 May 2021, 2:04 p.m. | Last Modified: 28 Jun 2021, 11:18 a.m.
Panel Version: 2.41
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Gene: far1 has been classified as Amber List (Moderate Evidence).
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