CAV3

caveolin 3
OMIM: 601253, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CAV3 in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.14 Latest signed off version: v5.4 (30 Apr 2025) 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 Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory UKGTN Phenotypes Myopathy, distal, Tateyama type, OMIM:614321 Rippling muscle disease, OMIM:606072
No list CAV3 in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.16	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 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: 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 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 Level 2: Cardiology Version 3.16 Latest signed off version: v3.14 (30 Apr 2025) 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 Brugada syndrome (Version 1.7) Long QT syndrome (Version 1.5) Emory Genetics Laboratory
Red CAV3 in Long QT syndrome Level 2: Cardiology Version 3.12 Latest signed off version: v3.10 (30 Apr 2025) 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 2: Cardiology Version 3.14 Latest signed off version: v3.12 (30 Apr 2025) 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 Expert Review Red Expert list Phenotypes Brugada syndrome, MONDO:0015263
Red CAV3 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	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 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) 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 1.506	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Red CAV3 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green CAV3 in Acute rhabdomyolysis Level 2: Neurology Version 2.7 Latest signed off version: v2.0 (30 Apr 2025)	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