Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ghosal hematodiaphyseal syndrome, OMIM:231095, ?Thromboxane synthase deficiency, OMIM:614158, Bleeding disorder, platelet-type, 14, OMIM:614158 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes GHOSAL HEMATODIAPHYSEAL SYNDROME 231095 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ghosal hematodiaphyseal syndrome, OMIM:231095 |