CAV3

caveolin 3
OMIM: 601253, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red CAV3 in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	1 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 1.0	3 reviews	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 2.0	1 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
Green CAV3 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert list Phenotypes Caveolinopathy MONDO:0016146
Amber CAV3 in Familial hypercholesterolaemia Level 2: Cardiovascular disorders Version 2.0	2 reviews	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 2.0	3 reviews	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 2.0	2 reviews	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 1.0	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 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