Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nephronophthisis 15 614845 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ciliopathies, Nephronophthisis 15, Senior-Loken syndrome, Nephronophthisis 15, 614845 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ciliopathies, Nephronophthisis 15, Senior-Loken syndrome, Nephronophthisis 15, 614845 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Genetic Retinal Degeneration Conditions |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nephronopthisis 15 MIM 614845 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease, Nephronophthisis 15 614845 |