Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
R-numbers: R57 Signed-off version 3.56 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 9} OMIM:607682, {Epilepsy, juvenile myoclonic, susceptibility to, 6} OMIM:607682, Episodic ataxia, type 5 OMIM:613855, Intellectual disability |