Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Ullrich congenital muscular dystrophy 1 254090, Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090Myosclerosis, congenital, 255600 |
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy, 158810, Ullrich congenital muscular dystrophy, 254090 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy, OMIM:158810, Ullrich congenital muscular dystrophy, OMIM: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 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Ullrich congenital muscular dystrophy 1 254090, Bethlem myopathy 1 158810 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Bethlem myopathy 1 158810 |