Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
Green in Glycogen storage diseaseR-numbers: R274 Signed-off version 1.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780, Epilepsy, progressive myoclonic 2A (Lafora) 254780 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 2.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 2A (Lafora) |
R-numbers: R58 Signed-off version 2.178 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epilepsy, progressive myoclonic 2A (Lafora), OMIM:254780 |