Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.38 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Myopathy, congenital, nonprogressive, OMIM:619967 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HACD1-related congenital myopathy |