Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes arthrogryposis multiplex congenita, Spinal muscular atrophy, lower extremity-predominant, 2A, 615290, autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291, arthrogryposis multiplex congenita (AMC), reduced fetal movements, hydrops fetalis, Pterygium |
R-numbers: R78 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 |
Green in Paediatric motor neuronopathiesComponent of the following Super Panels:
Signed-off version 3.7 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290 |