Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Arthrogryposis, distal, type 1B, 614335, Lethal congenital contracture syndrome 4, 614915, Distal Arthrogryposis |
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 Arthrogryposis, distal, type 1B, OMIM:614335, Lethal congenital contracture syndrome 4, OMIM:614915, Myopathy, congenital, with tremor, OMIM:618524 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Lethal congenital contracture syndrome 4 614915, Arthrogryposis, distal, type 1B 614335 |