Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 16 614465 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome with oculorenal defect, Joubert syndrome 16 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome with oculorenal defect, Joubert syndrome 16 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome with oculorenal defect, Joubert syndrome 16 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 16 614465 |