MYH2

myosin heavy chain 2
OMIM: 160740, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green MYH2 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637
Red MYH2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Congenital myopathy 6 with ophthalmoplegia, MIM#605637
Green MYH2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637
Green MYH2 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Phenotypes Myopathy, proximal, and ophthalmoplegia MONDO:0011577
Green MYH2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Proximal myopathy and ophthalmoplegia
Green MYH2 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 1.8	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637
Green MYH2 in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Proximal myopathy and ophthalmoplegia, OMIM:605637 Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
Red MYH2 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637