ACTA1

actin, alpha 1, skeletal muscle
OMIM: 102610
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, actin, congenital, with cores, OMIM:161800, Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800, Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310, Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800, CMD with rigid spine
R-numbers: R135
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated cardiomyopathy, MONDO:0005021, Hypertrophic cardiomyopathy, MONDO:0005045, Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800, CMD with rigid spine, Myopathy, congenital, with fiber-type disproportion 1, OMIM: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
Myopathy, actin, congenital, with cores, OMIM:161800, Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800, Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310, Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
R-numbers: R21, R412
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800