Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435, Arthrogryposis, distal, type 2B2, MONDO:0032750 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes TNNT3-associated congenital myopathy (biallelic) |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Arthrogryposis, distal, type 2B2, OMIM:618435, Arthrogryposis, distal, type 2B2, MONDO:0032750 |