| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468, INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epileptic encephalopathy, early infantile, 76, 618468, Global developmental delay, Intellectual disability, Seizures, Spasticity, epileptic encephalopathy |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Global developmental delay, Intellectual disability |