Genomics England
GMS Panels
Panels
Genes and Entities

CAV3

caveolin 3
OMIM: 601253
PanelMode of inheritanceDetails
3 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
caveolinopathy MONDO:0016146, Myopathy, distal, Tateyama type, OMIM:614321, Rippling muscle disease 2, OMIM:606072, rippling muscle disease 2, MONDO:0019947, distal myopathy, Tateyama type, MONDO:0013686
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 6.17
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
caveolinopathy MONDO:0016146, Myopathy, distal, Tateyama type, OMIM:614321, Rippling muscle disease 2, OMIM:606072, rippling muscle disease 2, MONDO:0019947, distal myopathy, Tateyama type, MONDO:0013686
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
caveolinopathy MONDO:0016146, Myopathy, distal, Tateyama type, OMIM:614321, Rippling muscle disease 2, OMIM:606072, rippling muscle disease 2, MONDO:0019947, distal myopathy, Tateyama type, MONDO:0013686