| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Craniofacial with neurodevelopment disorders |
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 Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies |
Component of the following Super Panels:
Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Developmental delay, Intellectual disability, Neurodegeneration, Epilepsy, Facial dysmorphism, Congenital anomalies |