Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hermansky-Pudlak syndrome 4 |
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 614073 Hermansky-Pudlak syndrome 4 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hermansky-Pudlak syndrome 4, 614073 |
Green in Pulmonary fibrosis familialR-numbers: R421 Signed-off version 1.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hermansky-Pudlak syndrome 4, OMIM:614073 |