ACTA1

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ACTA1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.427 Component of the following Super Panels: Neuromuscular Superpanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ACTA1 in Mendeliome Version 1.3512	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital myopathy 2C, severe infantile, autosomal dominant, MIM# 620278 Myopathy, actin, congenital, with cores, MIM#161800 Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Myopathy, congenital, with fiber-type disproportion 1, MIM#255310 Nemaline myopathy 3, MIM#161800 ?Myopathy, scapulohumeroperoneal
Green ACTA1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800
Red ACTA1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Nemaline myopathy 3, MIM#161800 Myopathy, actin, congenital, with cores, MIM#161800
Green ACTA1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Myopathy, scapulohumeroperoneal 616852
Green ACTA1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Green ACTA1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.207	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH South West GLH NHS GMS Phenotypes Hypertrophic cardiomyopathy Nemaline myopathy 3, autosomal dominant or recessive 161800 Dilated cardiomyopathy Myopathy, congenital, with fiber-type disproportion 1 255310 CMD with rigid spine
Red ACTA1 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 A gene Phenotypes Nemaline myopathy Congenital myopathy with fiber type disproportion
Green ACTA1 in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800 Nemaline myopathy 3, MIM#161800 Myopathy, actin, congenital, with cores, MIM#161800
Green ACTA1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Red ACTA1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy Congenital myopathy with fiber type disproportion