ACTN2

actinin alpha 2
OMIM: 102573, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red ACTN2 in Progressive cardiac conduction disease Version 2.8 Latest signed off version: v2.7 (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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Red Phenotypes Heart conduction disease, MONDO:0000992
Green ACTN2 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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green South West GLH London South GLH Wessex and West Midlands GLH Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC 612158 Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Green ACTN2 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 London South GLH North West GLH Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC (612158) Dilated Cardiomyopathy, Dominant Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
Green ACTN2 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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS London South GLH Phenotypes Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654
Amber ACTN2 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 Amber Literature Phenotypes Myopathy, distal, 6, adult onset, OMIM:618655 Tags watchlist_moi Q2_23_promote_green
Green ACTN2 in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.25 Latest signed off version: v2.23 (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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN South West GLH Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) Cardiomyopathy, dilated, 1AA, with or without LVNC (612158) Dilated Cardiomyopathy, Dominant
Red ACTN2 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Green ACTN2 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, Dominant
Red ACTN2 in Hereditary neuropathy or pain disorder Version 4.9 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green ACTN2 in Congenital muscular dystrophy and congenital myopathy Version 0.230	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London South GLH Expert Review Green NHS GMS Phenotypes Myopathy, congenital with structured cores and Z-line abnormalities, OMIM:618654