Peroxisomal Disorders

Gene: FAR1

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, 8:01 a.m. | Last Modified: 14 Apr 2021, 8:01 a.m.

Panel Version: 0.15

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cataracts, spastic paraparesis, and speech delay, MIM#619338

Publications

• 33239752

I don't know

3 variants from 2 families reported with the associated phenotype in 2014 with supporting functional studies. Amber pending additional reports.

PMID: 25439727: 3 siblings from 2 families affected by severe ID, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
Sources: Expert Review

Created: 20 Jul 2020, 4:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154)

Publications

• 25439727