| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 4.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes X-linked myotubular myopathy, Myotubular myopathy, X-linked, 310400 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MYOTUBULAR MYOPATHY, X-LINKED 310400 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MYOTUBULAR MYOPATHY, X-LINKED |
Green in Limb girdle muscular dystrophyComponent of the following Super Panels:
R-numbers: R82 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Myotubular myopathy, X-linked, 310400 |