Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Cystic kidney diseaseComponent of the following Super Panels:
Signed-off version 2.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD) |
Green in Fetal anomaliesR-numbers: R21 Signed-off version 1.92 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Polycystic kidney disease, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD) |
Green in Polycystic liver disease interimR-numbers: R173 Signed-off version 1.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) |
Green in Renal ciliopathiesComponent of the following Super Panels:
Signed-off version 1.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD) |
R-numbers: R257 Signed-off version 1.2 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Polycystic kidney disease, adult type I, 173900, Autosomal recessive polycystic kidney disease (ARPKD), Autosomal dominant polycystic kidney disease (ADPKD) |