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| BabyScreen+ newborn screening v1.114 | ABCB4 | Tommy Li Added phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803) for gene: ABCB4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.54 | ABCB4 | Zornitza Stark Marked gene: ABCB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.54 | ABCB4 | Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.54 | ABCB4 | Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.53 | ABCB4 | Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.52 | ABCB4 | Zornitza Stark Classified gene: ABCB4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.52 | ABCB4 | Zornitza Stark Gene: abcb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.51 | ABCB4 | Zornitza Stark reviewed gene: ABCB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 3 MIM#602347, disorder of bile acid metabolism, Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | ABCB4 |
Zornitza Stark gene: ABCB4 was added gene: ABCB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 |
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