Genomics England

FKTN

fukutin

Panel	Mode of inheritance	Details
Filter panels14 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fukuyama congenital muscular dystrophy, Fukuyama Congenital Muscular Dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fukuyama Congenital Muscular Dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type, Fukuyama congenital muscular dystrophy
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588, Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 4.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800, Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4, OMIM:613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, OMIM:611588
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588, CARDIOMYOPATHY DILATED TYPE 1X 611615, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152
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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800, seizures, Walker-warburg syndrome or muscle-eye-brain disease, Fukuyama congenital muscular dystrophy
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4, CARDIOMYOPATHY DILATED TYPE 1X, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152Cardiomyopathy, dilated, 1X, 611615Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 (MDDGB4)
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588, Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800, Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152, Cardiomyopathy, dilated, 1X, 611615, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588, Limb-girdle muscular dystrophy
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 5.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dilated Cardiomyopathy, Recessive, Fukuyama Congenital Muscular Dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type, Cardiomyopathy, dilated, 1X, Fukuyama congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588, Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800