| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cholestasis v0.21 | ATP8B1 | Ivone Leong Marked gene: ATP8B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | ATP8B1 | 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 | ATP8B1 | Ivone Leong Gene: atp8b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | ATP8B1 |
Ivone Leong Source Other was added to ATP8B1. Mode of inheritance for gene ATP8B1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mode of pathogenicity for gene ATP8B1 was changed from to Other - please provide details in the comments Added phenotypes Familial Intrahepatic Cholestasis; Cholestasis, intrahepatic, of pregnancy, 1, 147480; Cholestasis, Progressive Familial Intrahepatic 1; Cholestasis, benign recurrent intrahepatic, 243300; Cholestasis, progressive familial intrahepatic 1, 211600; Neonatal and Adult Cholestasis for gene: ATP8B1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.4 | ATP8B1 |
Ivone Leong Source Expert Review Green was added to ATP8B1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.3 | ATP8B1 | Ivone Leong reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | ATP8B1 |
Ivone Leong gene: ATP8B1 was added gene: ATP8B1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: ATP8B1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||