Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GRM7-related neurodevelopmental disorder |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 5.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922 |