FLNC

filamin C
OMIM: 102565, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green FLNC in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • 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 Neuromuscular disorders


    Version 5.164
    Latest signed off version: v5.43 (4 Mar 2020)

    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 1.37
    Latest signed off version: v1.5 (20 Aug 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.21
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.9 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 1.70

    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

    Amber FLNC in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.98
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • 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
    Tags
    • for-review

    Amber FLNC in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.28
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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
    • Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550
    • Myopathy, myofibrillar, 5, OMIM:609524
    • Myopathy, myofibrillar, 5, MONDO:0012289

    Green FLNC in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 Cardiomyopathies - including childhood onset


    Version 1.42
    Latest signed off version: v1.4 (19 Feb 2020)

    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 1.77

    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