SVIL

supervillin
OMIM: 604126, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber SVIL in Hypertrophic cardiomyopathy Level 2: Cardiology Version 6.2 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hypertrophic cardiomyopathy, MONDO:0005045
Amber SVIL in Arthrogryposis Level 2: Neurology Version 10.5 Latest signed off version: v10.0 (6 May 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Myofibrillar myopathy 10, OMIM:619040 myofibrillar myopathy 10, MONDO:0033620 Tags watchlist
Amber SVIL in Congenital myopathy Level 2: Neurology Version 7.1 Latest signed off version: v7.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10, OMIM:619040 myofibrillar myopathy 10, MONDO:0033620 Tags watchlist
Amber SVIL in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 6.1 Latest signed off version: v6.0 (6 May 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Myofibrillar myopathy 10, OMIM:619040 myofibrillar myopathy 10, MONDO:0033620 Tags watchlist