Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic kidney disease 4, with or without hepatic disease, OMIM:263200, MONDO:0044327 |
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal Recessive Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Recessive, Polycystic kidney and hepatic disease, 263200 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE |
Green in Polycystic liver diseaseR-numbers: R173 Signed-off version 1.26 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200, Caroli disease, MONDO:0010913 |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 3.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic kidney and hepatic disease, 263200 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Polycystic Kidney Disease, Autosomal Recessive, Polycystic kidney and hepatic disease, 263200, Autosomal Recessive Polycystic Kidney Disease |