Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes PIDD1-related neurodevelopmental disorder |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Global developmental delay, Intellectual disability, Seizures, Autism, Behavioral abnormality, Psychosis, Pachygyria, Lissencephaly, Abnormality of the corpus callosum |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Pachygyria, Lissencephaly, Seizures |