Familial hypercholesterolaemia
Gene: CAV3
Established for myopathy with/without elevated creatine
Red for HCM
Amber for LongQTCreated: 4 Apr 2022, 6:37 a.m. | Last Modified: 4 Apr 2022, 6:37 a.m.
Panel Version: 0.12544
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old.
PMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia.
Summary: 2 patients reported
Sources: LiteratureCreated: 15 Jun 2020, 5:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072
Publications
Gene: cav3 has been classified as Amber List (Moderate Evidence).
Publications for gene: CAV3 were set to PMID: 32004987; 28807458
Gene: cav3 has been classified as Amber List (Moderate Evidence).
gene: CAV3 was added gene: CAV3 was added to Familial hypercholesterolaemia. Sources: Literature Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to PMID: 32004987; 28807458 Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072 Review for gene: CAV3 was set to AMBER