ACTN2

PanelMode of inheritanceDetails
4 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated Cardiomyopathy, Dominant
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Multiple structured Core Disease, progressive early-onset muscle weakness
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R132
Signed-off version 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158), Cardiomyopathy, dilated, 1AA, with or without LVNC (612158), Dilated Cardiomyopathy, Dominant
Component of the following Super Panels:
  • - Sudden cardiac death
R-numbers: R131
Signed-off version 2.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1AA, with or without LVNC 612158, Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158