| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 5.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Kabuki syndrome 2, 300867 |
Green in Congenital hyperinsulinismR-numbers: R144 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Kabuki syndrome 2, 300867, X-linked dominant neonatal hypoglycaemia as part of Kabuki syndrome |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes KABUKI SYNDROME 2 300867 |
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 KABUKI SYNDROME 2 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Kabuki syndrome 2, OMIM:300867 |
R-numbers: R15 Signed-off version 5.3 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Kabuki syndrome 2, OMIM:300867, Recurrent infections (otitis media, pneumonia), Autoimmunity, Combined immunodeficiencies with associated or syndromic features |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 3.79 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Kabuki syndrome 2, OMIM:300867, Kabuki syndrome 2, MONDO:0010465 |