Panel | Mode of inheritance | Details |
---|---|---|
9 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 3 604387, RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540, MECKEL SYNDROME TYPE 7 267010 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MECKEL SYNDROME TYPE 7, RENAL-HEPATIC-PANCREATIC DYSPLASIA, NEPHRONOPHTHISIS TYPE 3 |
Green in Neurological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis |
Green in Ophthalmological ciliopathiesComponent of the following Super Panels:
Signed-off version 3.5 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Renal-hepatic-pancreatic dysplasia, Senior-Loken syndrome, Nephronophthisis 3, 604387, Meckel syndrome 7, 267010, Renal-hepatic-pancreatic dysplasia 1, 208540, Nephronophthisis |
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 Renal-hepatic-pancreatic dysplasia 1, MIM 208540, Meckel syndrome 7, MIM 267010, Nephronopthisis 3 MIM 604387 |
R-numbers: R257 Signed-off version 3.11 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Meckel syndrome 7, 267010, Renal-Hepatic-Pancreatic Dysplasia, Ciliopathy genes associated with cystic kidney disease, Nephronophthisis 3, 604387, Renal-hepatic-pancreatic dysplasia 1, 208540 |