ACTA1

actin, alpha 1, skeletal muscle
OMIM: 102610, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ACTA1 in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Red ACTA1 in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.9 Latest signed off version: v4.8 (1 May 2024) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Hypertrophic cardiomyopathy Dilated cardiomyopathy
Red ACTA1 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Literature Phenotypes Dilated cardiomyopathy Hypertrophic cardiomyopathy
Amber ACTA1 in Congenital muscular dystrophy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.24 Latest signed off version: v4.23 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes CMD with rigid spine Nemaline myopathy 3, autosomal dominant or recessive 161800 Myopathy, congenital, with fiber-type disproportion 1 255310
Green ACTA1 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.3 Latest signed off version: v6.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list 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 ACTA1 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS London South GLH Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN 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
Red ACTA1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.33 Latest signed off version: v4.32 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Myopathy, scapulohumeroperoneal, 616852
Green ACTA1 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Green ACTA1 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes NEMALINE MYOPATHY 3, 161800
Green ACTA1 in Paediatric or syndromic cardiomyopathy Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green 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
Green ACTA1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, 161800 Nemaline myopathy 3, autosomal dominant or recessive, 161800 Myopathy, congenital, with fiber-type disproportion 1, 255310 Myopathy, actin, congenital, with cores, 161800