FAR1

fatty acyl-CoA reductase 1
OMIM: 616107, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green FAR1 in Cataract Level 2: Ophthalmological disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cataracts, spastic paraparesis, and speech delay, MIM#619338 Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Green FAR1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cataracts, spastic paraparesis, and speech delay MIM#619338
Green FAR1 in Mendeliome Version 2.588	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338
Green FAR1 in Peroxisomal Disorders Level 2: Metabolic disorders Version 1.8 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154) Cataracts, spastic paraparesis, and speech delay, MIM#619338
Amber FAR1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.42 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154
Green FAR1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154 Cataracts, spastic paraparesis, and speech delay, MIM#619338
Red FAR1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Fatty acyl-CoA reductase 1 deficiency MONDO:0014510
Green FAR1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.5 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cataracts, spastic paraparesis, and speech delay, MIM#619338 Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM# 616154
Green FAR1 in Fetal anomalies Version 2.81	2 reviews	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