ACTN2

actinin alpha 2
OMIM: 102573, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ACTN2 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.37 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158
Green ACTN2 in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 1.0 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158
Green ACTN2 in Mendeliome Version 1.2302	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655 Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158 Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158 Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654
Green ACTN2 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Other Expert Review Amber Expert list Phenotypes Congenital Myopathy 8 (MIM#618654 MONDO: 0032852)
Green ACTN2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Victorian Clinical Genetics Services Phenotypes Myopathy, distal, 6, adult onset MIM#618655
Green ACTN2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green London South GLH South West GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Dilated Cardiomyopathy, Dominant
Red ACTN2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category B gene Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated
Red ACTN2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category B gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated