Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067, LISSENCEPHALY X-LINKED TYPE 1 300067 |
Green in Fetal anomaliesR-numbers: R21, R412 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 SUBCORTICAL BAND HETEROTOPIA X-LINKED, LISSENCEPHALY X-LINKED TYPE 1 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Lissencephaly, X-linked 300067, Subcortical laminal heterotopia, X-linked 300067 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Lissencephaly, X-linked, 300067Subcortical laminal heteropia, X-linked, 300067, SUBCORTICAL BAND HETEROTOPIA X-LINKED (SBHX) |
Component of the following Super Panels:
Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Lissencephaly, X-linked 300067, Subcortical laminal heteropia, X-linked 300067, Classic Lissencephaly/Subcortical Band Heterotopia |