FAR1

fatty acyl-CoA reductase 1
OMIM: 616107, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green FAR1 in Peroxisomal disorders Level 3: Peroxisomal disorders Level 2: Metabolic disorders Version 1.19	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green FAR1 in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green FAR1 in Childhood onset hereditary spastic paraplegia Version 4.42 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green FAR1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Red FAR1 in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green FAR1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green FAR1 in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Green FAR1 in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Expert Review Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 fatty acyl-CoA reductase 1 deficiency, MONDO:0014510
Green FAR1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 Tags to_be_confirmed_NHSE
Red FAR1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green FAR1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154