PanelApp
  1. Genes and Genomic Entities
  2. FKRP

FKRP

fukutin related protein
OMIM: 606596, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green FKRP in Cobblestone Malformations


Level 2: Neurology and neurodevelopmental disorders
Version 1.1

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  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, 5, MIM# 613153

    Green FKRP in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.417

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber FKRP in Cataract


    Level 2: Ophthalmological disorders
    Version 0.373

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 5
    • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 5
    • Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5

    Green FKRP in Congenital Disorders of Glycosylation


    Level 2: Metabolic disorders
    Version 1.60

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  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, 5 613153
    • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155

    Green FKRP in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153
    • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
    • Walker–Warburg syndrome

    Green FKRP in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.37

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155

    Green FKRP in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.127

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKRP in Mendeliome


    Version 1.2374

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

    Green FKRP in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • myopathy caused by variation in FKRP MONDO:0700066

    Amber FKRP in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, MIM#613153

    Green FKRP in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green FKRP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • myopathy caused by variation in FKRP MONDO:0700066

    Green FKRP in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Limb-girdle muscular dystrophy
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type

    Green FKRP in Rhabdomyolysis and Metabolic Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.20

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155

    Green FKRP in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)

    Amber FKRP in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS

    Green FKRP in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Muscle-eye-brain disease
    • Muscular dystrophy, limb girdle 2I

    Green FKRP in Fetal anomalies


    Version 1.314

    		review 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, 5 613153

    Green FKRP in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Myopathy caused by variation in FKRP MONDO:0700066

    Red FKRP in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

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

    Green FKRP in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155

    Green FKRP in Prepair 500+


    Level 2: Screening
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)