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 NEURONAL CEROID LIPOFUSCINOSIS, PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 |
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 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 611726 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726, NEURONAL CEROID LIPOFUSCINOSIS |
Green in Neuronal ceroid lipofuscinosisR-numbers: R231 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726, progressive myoclonic epilepsy type 3 MONDO:0012721 |