| Panel | Mode of inheritance | Details |
|---|---|---|
9 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.5 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes CORNELIA DE LANGE SYNDROME TYPE 2 300590, EPILEPTIC ENCEPHALOPATHY |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 8.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
Green in Holoprosencephaly - NOT chromosomalComponent of the following Super Panels:
R-numbers: R85 Signed-off version 5.1 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 9.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
Green in Limb disordersComponent of the following Super Panels:
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 Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 8.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370, Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044, Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 8.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Cornelia de Lange syndrome 2, OMIM:300590, Cornelia de Lange syndrome 2, MONDO:0010370 |