Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.5 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SYT2-related congenital onset presynaptic myasthenic syndrome |