FLNC

filamin C
OMIM: 102565, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green FLNC in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cardiomyopathy, familial restrictive 5 617047
    • Myopathy, distal, 4 614065
    • Myopathy, myofibrillar, 5 609524

    Green FLNC in Arrhythmogenic Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 0.68

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Arrhythmogenic right ventricular cardiomyopathy

    Green FLNC in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.33

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Dilated cardiomyopathy

    Green FLNC in Hypertrophic cardiomyopathy_HCM


    Level 2: Cardiovascular disorders
    Version 0.178

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26

    Green FLNC in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Myofibrillar myopathy MONDO:0018943
    • Dilated cardiomyopathy MONDO:0005021
    • distal myopathy with posterior leg and anterior hand involvement MONDO:0013550

    Green FLNC in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, MIM# 617047

    Green FLNC in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial restrictive 5 617047
    • Myopathy, distal, 4 614065
    • Myopathy, myofibrillar, 5 609524

    Green FLNC in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS

    Red FLNC in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Myofibrillar myopathy

    Green FLNC in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Arthrogryposis
    • congenital myopathy
    • Myopathy, myofibrillar, 5 - MIM#609524

    Red FLNC in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Myofibrillar myopathy

    Green FLNC in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26
    • Arrhythmogenic right ventricular cardiomyopathy
    • Dilated cardiomyopathy