Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes nemaline myopathy, Nemaline Myopathy, Recessive, Nemaline myopathy 5, Amish type, 605355 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.42 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Nemaline myopathy 5, Amish type, OMIM:605355 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nemaline myopathy, Amish type 605355 |