Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
R-numbers: R132 Signed-off version 2.17 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked 310300 |
Component of the following Super Panels:
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 Emery-Dreifuss muscular dystrophy 1, X-linked 310300 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.44 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 |
Component of the following Super Panels:
R-numbers: R328 Signed-off version 2.5 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Heart conduction disease, MONDO:0000992 |