Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, VACTERLX |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683, HETEROTAXY SYNDROME 207574 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS, HETEROTAXY SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes VACTERL association, X-linked, OMIM:314390 |
Green in Laterality disorders and isomerismR-numbers: R139 Signed-off version 3.9 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Heterotaxy, visceral, 1, X-linked, 306955, Congenital heart defects, nonsyndromic, 1, X-linked |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.2 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes VACTERL association, X-linked 314390 |