Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 6.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy, OMIM:158810, Ullrich congenital muscular dystrophy, OMIM:254090 |
Component of the following Super Panels:
R-numbers: R432 Signed-off version 1.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy, OMIM:158810, Ullrich congenital muscular dystrophy, OMIM:254090 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes DYSTONIA 27 616411, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 |
R-numbers: R101 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy 1, OMIM:158810, Ullrich congenital muscular dystrophy 1, OMIM:254090 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy, OMIM:158810, Ullrich congenital muscular dystrophy, OMIM:254090 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.33 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy, OMIM:158810, Ullrich congenital muscular dystrophy, OMIM:254090 |