Genomics England

ACTA1

actin, alpha 1, skeletal muscle

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	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, CMD with rigid spine
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 5.0	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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NEMALINE MYOPATHY 3, 161800
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.0	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 6.0	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