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Mendeliome v1.2302 ABCB4 Katrina Bell Tag SV/CNV tag was added to gene: ABCB4.
Mendeliome v0.10917 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Gallbladder disease 1 (MIM#600803)
Mendeliome v0.10916 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to 8666348; 17726488
Mendeliome v0.10915 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10913 ABCB4 Lucy Spencer reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18482588, 28924228, 32376413; Phenotypes: Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.8094 ABCB4 Zornitza Stark Marked gene: ABCB4 as ready
Mendeliome v0.8094 ABCB4 Zornitza Stark Gene: abcb4 has been classified as Green List (High Evidence).
Mendeliome v0.8094 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Mendeliome v0.8093 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to
Mendeliome v0.8092 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCB4 was set to Unknown