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| Cholestasis v0.21 | ABCB4 | Ivone Leong Marked gene: ABCB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | ABCB4 | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | ABCB4 | Ivone Leong Gene: abcb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | ABCB4 |
Ivone Leong Source Other was added to ABCB4. Mode of inheritance for gene ABCB4 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene ABCB4 was changed from to Other - please provide details in the comments Added phenotypes Progressive Familial Intrahepatic Cholestasis; modifier in other forms of genetic cholestasis; Familial Intrahepatic Cholestasis; gallstones; cholelithiasis; PFIC; PFIC3; Cholestasis, progressive familial intrahepatic 3, 602347; Cholestasis, intrahepatic, of pregnancy, 3, 614972; Neonatal and Adult Cholestasis; Cholestasis, Progressive Familial Intrahepatic 3 for gene: ABCB4 |
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| Cholestasis v0.4 | ABCB4 |
Ivone Leong Source Expert Review Green was added to ABCB4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | ABCB4 | Ivone Leong reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | ABCB4 |
Ivone Leong gene: ABCB4 was added gene: ABCB4 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ABCB4 was set to |
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