CAV3

caveolin 3
OMIM: 601253, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green CAV3 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.43
Latest signed off version: v1.34 (4 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Muscular dystrophy, limb-girdle, type IC 607801
    • Myopathy, distal, Tateyama type 614321
    • Rippling muscle disease 606072

    Green CAV3 in Neuromuscular disorders


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

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Myopathy, distal, Tateyama type, 614321
    • Limb-Girdle Muscular Dystrophy, Dominant
    • Cardiomyopathy, familial hypertrophic, 192600
    • Cardiomyopathy, familial hypertrophic 192600
    • Muscular dystrophy, limb-girdle, type IC, 607801
    • Rippling muscle disease, 606072
    • Limb-girdle muscular dystrophy
    • Creatine phosphokinase, elevated serum 123320
    • Myopathy, distal, Tateyama type 614321
    • Rippling muscle disease 606072
    • Long QT syndrome 9 611818
    • Creatine phosphokinase, elevated serum, 123320
    • Muscular dystrophy, limb-girdle, type IC
    • Muscular dystrophy, limb-girdle, type IC 607801

    No list CAV3 in Sudden death in young people

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 1.15

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Removed
    • Literature
    • Emory Genetics Laboratory
    • Other
    Phenotypes
    • Cardiomyopathy, familial hypertrophic, 192600
    • Sudden death
    • sudden death in young subjects
    • Sudden Infant Death Syndrome
    • SIDS
    • Sudden Cardiac Arrest
    • Sudden Infant Death Syndrome
    Tags
    • curated_removed

    Red CAV3 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
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy, familial hypertrophic,

    Red CAV3 in Short QT syndrome


    Version 2.7
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Brugada syndrome (Version 1.7)
    • Long QT syndrome (Version 1.5)
    • Emory Genetics Laboratory

    Red CAV3 in Long QT syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.20 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Long QT syndrome-9

    Red CAV3 in Brugada syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 2.33
    Latest signed off version: v2.4 (20 Aug 2020)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • Brugada syndrome, MONDO:0015263

    Red CAV3 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 Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, type IC, 607801Rippling muscle disease, 606072Creatine phosphokinase, elevated serum, 123320Myopathy, distal, Tateyama type, 614321Cardiomyopathy, familial hypertrophic, 192600

    Red CAV3 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
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, familial hypertrophic 192600
    • Creatine phosphokinase, elevated serum 123320
    • Long QT syndrome 9 611818
    • Muscular dystrophy, limb-girdle, type IC 607801
    • Myopathy, distal, Tateyama type 614321
    • Rippling muscle disease 606072

    Green CAV3 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
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Limb-Girdle Muscular Dystrophy, Dominant
    • Muscular dystrophy, limb-girdle, type IC, 607801
    • Rippling muscle disease, 606072
    • Creatine phosphokinase, elevated serum, 123320
    • Myopathy, distal, Tateyama type, 614321
    • Cardiomyopathy, familial hypertrophic, 192600
    • Limb-girdle muscular dystrophy

    Red CAV3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Red CAV3 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy

    Green CAV3 in Severe Paediatric Disorders


    Version 1.77

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, distal, Tateyama type, 614321
    • Long QT syndrome 9, 611818
    • Creatine phosphokinase, elevated serum, 123320
    • Cardiomyopathy, familial hypertrophic, 192600
    • Rippling muscle disease 2, 606072