Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME, 614615 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 35, OMIM:618161 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.5 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 35, OMIM:61816, cone-rod dystrophy, MONDO:0015993, Retinitis pigmentosa 83, OMIM:618173 |
Green in Retinal disordersR-numbers: R32 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 35, OMIM:61816, cone-rod dystrophy, MONDO:0015993, Retinitis pigmentosa 83, OMIM:618173 |