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| Hereditary Spastic Paraplegia - paediatric v1.13 | FAR1 | Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 to Cataracts, spastic paraparesis, and speech delay, MIM#619338; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.12 | FAR1 | Zornitza Stark edited their review of gene: FAR1: Changed rating: GREEN; Changed phenotypes: Cataracts, spastic paraparesis, and speech delay, MIM#619338; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.10 | FAR1 | Zornitza Stark Marked gene: FAR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.10 | FAR1 | Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic disorder Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 also has spasticity as a feature, in addition to ID and cataracts. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.10 | FAR1 | Zornitza Stark Gene: far1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.10 | FAR1 | Zornitza Stark Phenotypes for gene: FAR1 were changed from spastic paraparesis and bilateral cataracts to spastic paraparesis and bilateral cataracts; Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.9 | FAR1 | Zornitza Stark Mode of inheritance for gene: FAR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.8 | FAR1 | Chirag Patel Classified gene: FAR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.8 | FAR1 | Chirag Patel Gene: far1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.7 | FAR1 |
Chirag Patel gene: FAR1 was added gene: FAR1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAR1 were set to PMID: 33239752 Phenotypes for gene: FAR1 were set to spastic paraparesis and bilateral cataracts Review for gene: FAR1 was set to GREEN Added comment: 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 |
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