Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 4.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation) |
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.134 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital myasthenic syndrome, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation) |