Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R56 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dystonia-1, torsion, OMIM:128100, Dystonic disorder, MONDO:0003441 |
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947, Arthrogryposis multiplex congenita 5, MONDO:0100218, Dystonia-1, torsion, OMIM:128100, Dystonic disorder, MONDO:0003441 |
R-numbers: R57 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dystonia-1, torsion, OMIM:128100, Arthrogryposis multiplex congenita 5, OMIM:618947 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947, Arthrogryposis multiplex congenita 5, MONDO:0100218 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Arthrogryposis multiplex congenita 5, OMIM:618947, Arthrogryposis multiplex congenita 5, MONDO:0100218 |