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  2. FKTN

FKTN

fukutin
OMIM: 607440, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green FKTN in Hydrocephalus


Version 2.5
Signed off v.2.3 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Green FKTN in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.37
Signed off v.1.34 on 4 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Literature
    • UKGTN
    Phenotypes
    • Fukuyama congenital muscular dystrophy
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800

    Green FKTN in Neuromuscular disorders


    Version 5.44
    Signed off v.5.43 on 4 Mar 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fukuyama Congenital Muscular Dystrophy
    • Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
    • Limb-girdle muscular dystrophy
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
    • Fukuyama congenital muscular dystrophy
    • Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
    • Cardiomyopathy, dilated, 1X, 611615
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

    Green FKTN in Ataxia and cerebellar anomalies - narrow panel


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Fukuyama Congenital Muscular Dystrophy
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
    • Fukuyama congenital muscular dystrophy

    Green FKTN in Congenital disorders of glycosylation

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 4 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    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)

    Red FKTN in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.3
    Signed off v.2.2 on 19 Feb 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A4

    Green FKTN in Malformations of cortical development

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.5
    Signed off v.2.2 on 25 Feb 2020

    Component of the following Super Panels:

  • Cerebral malformations

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
    Tags
    • non-coding-known-pathogenic

    Amber FKTN in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.65

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    • London South GLH
    • Wessex and West Midlands GLH
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 1X
    • Dilated Cardiomyopathy, Recessive

    Green FKTN in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Fukuyama congenital muscular dystrophy
    • Fukuyama Congenital Muscular Dystrophy
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
    Tags
    • structural-variant

    Green FKTN in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Fukuyama congenital muscular dystrophy
    • Fukuyama Congenital Muscular Dystrophy
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

    Green FKTN in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.6
    Signed off v.2.4 on 2 Mar 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    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 FKTN in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.39

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Fukuyama congenital muscular dystrophy
    • Fukuyama Congenital Muscular Dystrophy
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

    Green FKTN in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
    • 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

    Green FKTN in Inborn errors of metabolism


    Version 2.5
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    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)

    Amber FKTN in Dilated cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Sudden cardiac death

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Wessex and West Midlands GLH
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Dilated Cardiomyopathy, Recessive
    • Cardiomyopathy, dilated, 1X

    Green FKTN in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    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 FKTN in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    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

    Red FKTN in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green FKTN in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.25
    Signed off v.2.2 on 13 Feb 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    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 FKTN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.23
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    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 FKTN in Structural eye disease


    Version 1.5
    Signed off v.1.3 on 4 Mar 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800

    Green FKTN in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Green
    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)

    Red FKTN in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Red FKTN in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green FKTN in Severe Paediatric Disorders


    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    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
    • Cardiomyopathy, dilated, 1X, 611615
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588