Panel | Mode of inheritance | Details |
---|---|---|
10 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 DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME TYPE 4 609583, NEPHRONOPHTHISIS TYPE 1 256100, SENIOR-LOKEN SYNDROME TYPE 1 266900 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SENIOR-LOKEN SYNDROME TYPE 1, NEPHRONOPHTHISIS TYPE 1, JOUBERT SYNDROME TYPE 4 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nephronophthisis 1, juvenile, 256100Senior-Loken syndrome-1, 266900Joubert syndrome 4, 609583, SENIOR-LOKEN SYNDROME TYPE 1 (SLSN1) |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 4, Senior-Loken syndrome, 256100 Senior-Loken syndrome-1, 266900, 609583 Nephronophthisis 1, juvenile, Nephronophthisis |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 4 MIM 609583, Senior-Loken syndrome-1 MIM 266900, Nephronopthisis 1, juvenile MIM 256100 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 4 609583, Ciliopathy genes associated with cystic kidney disease, Senior-Loken syndrome-1 266900, Nephronophthisis 1, juvenile 256100 |