Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Episodic ataxia/myokymia syndrome, |
R-numbers: R57 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes EPISODIC ATAXIA, TYPE 1, myokymia with periodic ataxia |
R-numbers: R54 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome, EPISODIC ATAXIA, TYPE 1, Episodic ataxia/myokymia syndrome, 160120 |
R-numbers: R66 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Episodic Ataxia, EPISODIC ATAXIA, TYPE 1, Episodic ataxia/myokymia syndrome, 160120, EA1, Myokymia, myokymia with periodic ataxia, Episodic Ataxia, Type 1 |
Green in Skeletal muscle channelopathyR-numbers: R76 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Episodic ataxia type 1/myokymia syndrome OMIM:160120 |