1. Genes and Genomic Entities
  2. FLNC

FLNC

filamin C
OMIM: 102565, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green FLNC in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myopathy, distal, 4, OMIM:614065
    • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289
    Green FLNC in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Myopathy, myofibrillar, 5, 609524
    • Myopathy, myofibrillar, 5
    • Distal myopathy 4, 614065
    Red FLNC in Progressive cardiac conduction disease


    Version 2.6
    Latest signed off version: v2.2 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Heart conduction disease, MONDO:0000992
    Green FLNC in Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.7
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • Wessex and West Midlands GLH
    • Oxford Medical Genetics Laboratory
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    Green FLNC in Arrhythmogenic right ventricular cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 3.9
    Latest signed off version: v3.5 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    Amber FLNC in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • Oxford Medical Genetics Laboratory
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289
    Green FLNC in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    • Myopathy, distal, 4, OMIM:614065
    • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289
    Amber FLNC in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myopathy, distal, 4, OMIM:614065
    • Myopathy, myofibrillar, 5, OMIM:609524
    Green FLNC in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Emory Genetics Laboratory
    Phenotypes
    • Myopathy, distal, 4, OMIM:614065
    • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289
    Green FLNC in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289
    Green FLNC in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Arthrogryposis, MONDO:0008779
    Green FLNC in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289
    Green FLNC in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 26, OMIM:617047
    • Cardiomyopathy, familial restrictive 5, OMIM:617047
    • Hypertrophic cardiomyopathy 26, MONDO:0014883
    • Myopathy, distal, 4, OMIM:614065
    • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289