Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Hermansky-pudlak syndrome 9 614171 AR |
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 614171 ?Hermansky-pudlak syndrome 9 |
R-numbers: R15 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hermansky-pudlak syndrome 9, 614171, HPS9, palladin deficiency (NK cell defect), Immune Dysregulation |