Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Familial Intrahepatic Cholestasis, Cholestasis, progressive familial intrahepatic 2, 601847, Cholestasis, Progressive Familial Intrahepatic 2, PFIC2, Cholestasis, benign recurrent intrahepatic, 2, 605479, Neonatal and Adult Cholestasis |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport), Cholestasis, benign recurrent intrahepatic, 2 605479, Cholestasis, progressive familial intrahepatic 2 601847 |