MYPN

myopalladin
OMIM: 608517, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red MYPN in Hypertrophic cardiomyopathy_HCM Level 2: Cardiovascular disorders Version 0.178 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Cardiomyopathy, hypertrophic, 22 (MIM# 615248)
Green MYPN in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nemaline myopathy 11, autosomal recessive MIM#617336 AR cardiomyopathy MIM#615248 AD
Green MYPN 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Expert Review Green Expert list Phenotypes Nemaline Myopathy (MIM#617336 MONDO:0018958)
Amber MYPN in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber South West GLH NHS GMS Phenotypes Congenital myopathy 24, MIM# 617336 Cardiomyopathy, dilated, 1KK, MIM# 615248 Cardiomyopathy, hypertrophic, 22, MIM# 615248
Red MYPN in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Cardiomyopathy, hypertrophic Cardiomyopathy, dilated
Red MYPN in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Nemaline myopathy 11, autosomal recessive, MIM# 617336
Red MYPN in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Cardiomyopathy, dilated