Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes nemaline myopathy, Nemaline Myopathy, Nemaline myopathy 1, autosomal dominant or recessive, 609284, Myopathy, congenital, with fiber-type disproportion 255310 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.38 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes CAP myopathy 1, OMIM:609284, Myopathy, congenital, with fiber-type disproportion, OMIM:255310, Nemaline myopathy 1, autosomal dominant or recessive, OMIM:609284 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Nemaline/Cap myopathy |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Congenital fiber-type disproportion myopathy 255310 |