Genomics England

DYSF

dysferlin

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Miyoshi muscular dystrophy 1, OMIM:254130, Myopathy, distal, with anterior tibial onset, OMIM:606768, Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601
Green in Distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 7.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601, Miyoshi muscular dystrophy 1, OMIM:254130, Myopathy, distal, with anterior tibial onset, OMIM:606768
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 6.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601, Miyoshi muscular dystrophy 1, OMIM:254130, Myopathy, distal, with anterior tibial onset, OMIM:606768
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601, Miyoshi muscular dystrophy 1, OMIM:254130, Myopathy, distal, with anterior tibial onset, OMIM:606768