Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cholestasis, progressive familial intrahepatic, 9, OMIM:619849 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis |