Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
R-numbers: R78 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Charcot-Marie-Tooth, X-linked, Charcot Marie Tooth neuropathy, X linked dominant, 1, 302800 |
Green in White matter disorders - adult onsetR-numbers: R62 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 |
Component of the following Super Panels:
Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 |