Genomics England

FAR1

fatty acyl-CoA reductase 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 5.10	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154, fatty acyl-CoA reductase 1 deficiency, MONDO:0014510
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154