| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism), Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome, Orofacial Clefting with skeletal features |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes KBG SYNDROME 148050 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes KBG syndrome, 148050 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes KBG SYNDROME |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes KBG syndrome, 148050, KBG SYNDROME |
Green in Monogenic short statureR-numbers: R453 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes KBG syndrome, OMIM:148050 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes KBG syndrome 148050 |