MYPN

PanelMode of inheritanceDetails
3 panels
R-numbers: R135
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomypathy, familial hypertrophic, 22,, Cardiomyopathy, dilated, 1KK
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital cap myopathy, Nemaline myopathy, 617336
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 11, autosomal recessive, 617336