Childhood onset hereditary spastic paraplegia
Gene: FAR1EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel updateCreated: 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.
Sources: LiteratureCreated: 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
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 Green
- Literature
- Phenotypes
-
- Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
- OMIM
- 616107
- Clinvar variants
- Variants in FAR1
- Penetrance
- None
- Publications
- 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
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating was removed from gene: FAR1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to FAR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: far1 has been classified as Amber List (Moderate Evidence).
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