Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Ehlers Danlos syndromesR-numbers: R101 Signed-off version 2.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Aortic aneurysm, familial thoracic 10, 617168 |
R-numbers: R125 Signed-off version 2.1 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Aortic aneurysm, familial thoracic 10, 617168, aortic aneurysm |