CAV3

PanelMode of inheritanceDetails
3 panels
R-numbers: R419
Signed-off version 1.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Rippling muscle disease, OMIM:606072, Myopathy, distal, Tateyama type, OMIM:614321
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rippling muscle disease 2, OMIM:606072, Myopathy, distal, Tateyama type, OMIM:614321
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, distal, Tateyama type, OMIM:614321, Rippling muscle disease, OMIM:606072