ACTA1

actin, alpha 1, skeletal muscle
OMIM: 102610
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 3, autosomal dominant or recessive 161800, Myopathy, actin, congenital, with excess of thin myofilaments 161800, Myopathy, actin, congenital, with cores 161800, nemaline myopathy, Nemaline myopathy 3, autosomal dominant or recessive, 161800Myopathy, actin, congenital, with excess of thin myofilaments, 161800Myopathy, actin, congenital, with cores, 161800Myopathy, congenital, with fiber-type disproportion 1, 255310, Nemaline Myopathy, CMD with rigid spine
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Nemaline myopathy 3, autosomal dominant or recessive 161800, CMD with rigid spine, Myopathy, congenital, with fiber-type disproportion 1 255310
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 3, 161800
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
NEMALINE MYOPATHY 3