CAV3

caveolin 3
OMIM: 601253, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green CAV3 in Rhabdomyolysis and metabolic muscle disorders Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.48 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, imprinted status unknown	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Rippling muscle disease, OMIM:606072
Green CAV3 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	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 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 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 3.10 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event	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 3.7 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 and cardiac sodium channel disease Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.8 Latest signed off version: v3.2 (22 Mar 2023) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event	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 5.22 Latest signed off version: v5.0 (22 Mar 2023)	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 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 Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myopathy, distal, Tateyama type, OMIM:614321
Green CAV3 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 Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Rippling muscle disease 2, OMIM:606072 Myopathy, distal, Tateyama type, OMIM:614321
Red CAV3 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Red CAV3 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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 1.184	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
Green CAV3 in Acute rhabdomyolysis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 1.18 Latest signed off version: v1.7 (31 May 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Rippling muscle disease, OMIM:606072 Myopathy, distal, Tateyama type, OMIM:614321