Panel | Mode of inheritance | Details |
---|---|---|
12 panels | ||
Green in Bardet Biedl syndromeR-numbers: R107 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes {Bardet-Biedl syndrome 14, modifier of}, 615991 |
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 NEPHRONOPHTHISIS TYPE 11 613550, MECKEL SYNDROME TYPE 3 607361, COACH SYNDROM 216360, JOUBERT SYNDROME TYPE 6 610688 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes JOUBERT SYNDROME TYPE 6, MECKEL SYNDROME TYPE 3, COACH SYNDROM, NEPHRONOPHTHISIS TYPE 11 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome 3, 607361Joubert syndrome 6, 610688{Bardet-Biedl syndrome 14, modifier of}, 209900COACH syndrome, 216360Nephronophthisis 11, 613550, COACH SYNDROME(COACHS) |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COACH syndrome 216360, Joubert syndrome 6 610688, Meckel syndrome 3 607361, {Bardet-Biedl syndrome 14, modifier of} 615991, Polydactyly |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome, nephronophthisis, COACH syndrome, Joubert syndrome 6, ?Bardet-Biedl syndrome?, Senior-Boichis syndrome, 613550, 607361, Meckel-Gruber syndrome, Meckel syndrome, 610688, Nephronophthisis 11, 216360 |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome, nephronophthisis, COACH syndrome, Joubert syndrome 6, ?Bardet-Biedl syndrome?, Senior-Boichis syndrome, 613550, 607361, Meckel-Gruber syndrome, Meckel syndrome, 610688, Nephronophthisis 11, 216360 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome, nephronophthisis, COACH syndrome, Joubert syndrome 6, ?Bardet-Biedl syndrome?, Senior-Boichis syndrome, 613550, 607361, Meckel-Gruber syndrome, Meckel syndrome, 610688, Nephronophthisis 11, 216360 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes COACH syndrome, 216360, Joubert syndrome 6, 610688, {Bardet-Biedl syndrome 14, modifer of}, 615991, Meckel syndrome 3, 607361, COACH syndrome, 216360, Nephronophthisis 11, 613550 |
Green in Tubulointerstitial kidney diseaseR-numbers: R202 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?RHYNS syndrome MIM 602152, COACH syndrome 216360 AR 3, {Bardet-Biedl syndrome 14, modifier of} MIM 615991, ?RHYNS syndrome 602152 AR 3, COACH syndrome, MIM 216306, Joubert syndrome 6, MIM 610688, Nephronopthisis 11 MIM 613550, Meckel syndrome 3, MIM 607361 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Joubert syndrome 6 610688, Nephronophthisis 11 613550, Meckel syndrome 3 607361, Ciliopathy genes associated with cystic kidney disease, {Bardet-Biedl syndrome 14, modifier of} 615991, COACH syndrome 216360 |