CAV3

caveolin 3
OMIM: 601253, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red CAV3 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, familial hypertrophic, MIM# 192600
Amber CAV3 in Long QT Syndrome Level 2: Cardiovascular disorders Version 0.61 Component of the following Super Panels: Adult Cardiac SuperPanel Arrhythmia_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Long QT syndrome 9, MIM# 611818
Green CAV3 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, distal, Tateyama type MIM#614321 Rippling muscle disease 2 MIM#606072 Creatine phosphokinase, elevated serum MIM#123320
Amber CAV3 in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 0.27	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Literature Phenotypes Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072
Green CAV3 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.27 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, distal, Tateyama type 614321 Rippling muscle disease 2 606072
Green CAV3 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Muscular dystrophy, limb-girdle, type IC 607801 Rippling muscle disease 606072 Myopathy, distal, Tateyama type 614321
Green CAV3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene BabySeq Category A gene Phenotypes Muscular dystrophy, limb-girdle, type IC Caveolinopathy
Red CAV3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Myopathy, distal, Tateyama type MIM#614321 Rippling muscle disease 2 MIM#606072 Creatine phosphokinase, elevated serum MIM#123320