Congenital myopathy
Gene: CAV3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072
Comment when marking as ready: Phenotypes listed are not consistent with congenital myopathy. The main muscular phenotype is limb-girdle muscular dystrophy (associated with dystrophic muscle changes: an exclusion criteria for this phenotype) and not of infantile onset.Created: 3 Feb 2017, 11:41 a.m.
Phenotypes listed are not consistent with congenital myopathy. The main muscular phenotype is limb-girdle muscular dystrophy (associated with dystrophic muscle changes: an exclusion criteria for this phenotype) and not of infantile onset.Created: 30 Jan 2017, 2:18 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072
Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for CAV3 were set to Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072
Mode of inheritance for CAV3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
CAV3 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen