Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 4.19 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ciliopathy genes associated with cystic kidney disease |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEPHRONOPHTHISIS TYPE 4 606966 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEPHRONOPHTHISIS TYPE 4 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Senior-Loken syndrome, Nephronophthisis, Senior-Loken syndrome 4, 606996, Nephronophthisis 4, 606966 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Senior-Loken syndrome, Nephronophthisis, Senior-Loken syndrome 4, 606996, Nephronophthisis 4, 606966 |
Green in Retinal disordersR-numbers: R32 Signed-off version 4.42 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Senior-Loken syndrome 4 MIM 606996, Nephronopthisis 4 MIM 606966 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Senior-Loken syndrome 4 606996, Ciliopathy genes associated with cystic kidney disease, Nephronophthisis 4 606966 |