PanelApp
  1. Genes and Genomic Entities
  2. FKTN

FKTN

fukutin
OMIM: 607440, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green FKTN in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800

    Green FKTN in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.427

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber FKTN in Cataract


    Level 2: Ophthalmological disorders
    Version 0.375

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Limb Girdle Muscular Dystrophy with No Mental Retardation
    • Congenital Cataract

    Green FKTN in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 1.78

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    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

    Amber FKTN in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.91

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert Review
    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
    • Walker-Warburg syndrome

    Amber FKTN in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.48

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Cardiomyopathy, dilated, 1X MIM#611615
    Tags
    • SV/CNV

    Green FKTN in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.132

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKTN in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy MONDO:0018276
    Tags
    • deep intronic

    Green FKTN in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy MONDO:0018276

    Green FKTN in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy MONDO:0018276

    Green FKTN in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.565

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKTN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Myopathy caused by variation in FKTN MONDO:0700067

    Green FKTN in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

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

    Red FKTN in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
    • Fukuyama congenital muscular dystrophy

    Green FKTN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)

    Green FKTN in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.207

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
    • Dilated Cardiomyopathy, Recessive
    • Fukuyama Congenital Muscular Dystrophy
    • Fukuyama congenital muscular dystrophy
    • 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
    • Cardiomyopathy, dilated, 1X
    • Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

    Green FKTN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
    • Muscular dystrophy, Fukuyama

    Green FKTN in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800

    Green FKTN in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cardiomyopathy, dilated, 1X MIM#611615
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4MIM#253800
    • Muscular dystrophy-dystroglycanopathy (congenital without impaired intellectual development), type B, 4 MIM#613152
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 MIM# 611588

    Red FKTN in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy MONDO:0018276

    Green FKTN in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy MONDO:0018276