Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Cerebral vascular malformationsR-numbers: R336 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Arterial tortuosity syndrome, OMIM:208050 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARTERIAL TORTUOSITY SYNDROME 208050 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ARTERIAL TORTUOSITY SYNDROME |
R-numbers: R125 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Arterial tortuosity syndrome, 208050, Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders |