| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493 |
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 Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493, Seizures, Intellectual disability, Global developmental delay |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormality of the eye, Seizures, Dysautonomia, Central hypotonia, Muscular hypotonia, Hypoventilation, Intellectual disability, Sleep apnea, Global developmental delay, Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia |