Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes X-linked anophthalmia syndrome/Lenz, NONPECIFIC SEVERE ID, X-linked anophthalmia syndrome, OGDEN SYNDROME 300855 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes X-linked anophthalmia syndrome/Lenz, OGDEN SYNDROME, NONPECIFIC SEVERE ID, X-linked anophthalmia syndrome |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes N-terminal acetyltransferase deficiency, 300855, NONPECIFIC SEVERE ID |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Microphthalmia, syndromic 1, 309800 |