Fetal anomalies
Gene: FAR1

FAR1 (fatty acyl-CoA reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000197601
EnsemblGeneIds (GRCh37): ENSG00000197601
OMIM: 616107, Gene2Phenotype
FAR1 is in 8 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Sources: Literature
Created: 14 Apr 2021, 7:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spastic paraparesis and bilateral cataracts

Publications

PMID: 33239752

Created: 14 Apr 2021, 7:08 a.m.

Panel version: Imported from Cataract panel version 0.270

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID 33239752: 12 patients with paediatric onset spastic paraparesis and bilateral congenital/juvenile cataracts. Most also had speech and gross motor developmental delay and truncal hypotonia. Exome sequencing identified de novo variants affecting the Arg480 residue in FAR1 (p.Arg480Cys/His/Leu). Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.
Created: 14 Apr 2021, 7:57 a.m. | Last Modified: 14 Apr 2021, 7:57 a.m.

Panel Version: 0.3668

Onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly and seizures in 3 individuals from 2 families. Bialleleic variants identified in FAR1 (hom indel in consang family and compound het for a missense and a nonsense) and in vitro expression studies showed that all the variants resulted in a complete loss of enzyme activity.
Created: 22 Jan 2020, 7:51 a.m. | Last Modified: 22 Jan 2020, 7:51 a.m.

Panel Version: 0.1659

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338

Publications

Created: 22 Jan 2020, 7:51 a.m.
Last Modified: 22 Jan 2020, 7:51 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3784

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Literature
Genetic Health Queensland

Phenotypes

Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Cataracts, spastic paraparesis, and speech delay, MIM#619338

OMIM

616107

Clinvar variants

Variants in FAR1

Penetrance

None

Publications

Panels with this gene