TPM3

PanelMode of inheritanceDetails
3 panels
R-numbers: R83
Signed-off version 4.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
nemaline myopathy, Nemaline Myopathy, Nemaline myopathy 1, autosomal dominant or recessive, 609284, Myopathy, congenital, with fiber-type disproportion 255310
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
CAP myopathy 1 609284, Myopathy, congenital, with fiber-type disproportion 255310, Nemaline myopathy 1, autosomal dominant or recessive 609284
R-numbers: R21, R412
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital fiber-type disproportion myopathy 255310