Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 4.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Trismus-pseudocamptodactyly syndrome (ARTHROGRYPOSIS, DISTAL, TYPE 7, DA7) 158300 |
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Trismus-pseudocamptodactyly syndrome, OMIM:158300 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300, CARNEY COMPLEX VARIANT 608837 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes DISTAL ARTHROGRYPOSIS TYPE, CARNEY COMPLEX VARIANT |