Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes congenital muscular dystrophies, congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9 |
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 4.24 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, OMIM:616538, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.34 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Limb girdle muscular dystrophy, congenital muscular dystrophy, Limb-girdle muscular dystrophy |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538 |