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 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Green ACTN2 in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158 ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Green ACTN2 in Mendeliome Version 2.0	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 2.0	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Congenital Myopathy 8 (MIM#618654 MONDO: 0032852) ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Green ACTN2 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Amber Phenotypes Myopathy, distal, 6, adult onset MIM#618655 ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Green ACTN2 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Dilated Cardiomyopathy, Dominant ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Red ACTN2 in Additional findings_Paediatric Level 2: Screening Version 1.0	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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	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