Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Cleft palate, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Short stature, palatal anomalies, congenital heart disease, and skeletal malformations |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Short stature, palatal anomalies, congenital heart disease, and skeletal malformations, Brachydactyly, type A2 112600 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Brachydactyly, type A2 112600, Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877., Brachydactyly, type A2 112600, {HFE hemochromatosis, modifier of} 235200 |