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 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 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HERMANSKY-PUDLAK SYNDROME 9 614171 |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hermansky-pudlak syndrome 9, 614171, HPS9, palladin deficiency (NK cell defect), Immune Dysregulation |