Genomics England

MTM1

myotubularin 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.21	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.33	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes MYOTUBULAR MYOPATHY, X-LINKED 310400
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400
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 4.24	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Myopathy, centronuclear, X-linked, OMIM:310400