Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Loeys-Dietz syndrome 5 615582 |
Green in CleftingComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LOEYS-DIETZ SYNDROME 5, LDS5 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LOEYS-DIETZ SYNDROME 615582 |
Green in Ehlers Danlos syndromesR-numbers: R101 Signed-off version 2.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Loeys-Dietz syndrome 5, 615582 |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes LOEYS-DIETZ SYNDROME |
Green in Pneumothorax - familialR-numbers: R190 Signed-off version 2.17 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Loeys-Dietz syndrome, Pulmonary emphysema, Loeys-Dietz syndrome 5, 615582 |
R-numbers: R125 Signed-off version 1.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Loeys-Dietz syndrome 5, 615582, Arrhythmogenic right ventricular dysplasia 1, 107970 |