Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Cholestasis v0.20 GNAS Ivone Leong Marked gene: GNAS as ready
Cholestasis v0.20 GNAS Ivone Leong Gene: gnas has been classified as Amber List (Moderate Evidence).
Cholestasis v0.20 GNAS Ivone Leong Classified gene: GNAS as Amber List (moderate evidence)
Cholestasis v0.20 GNAS Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence for this gene to be rated green. Therefore, demoted from green to amber.
Cholestasis v0.20 GNAS Ivone Leong Gene: gnas has been classified as Amber List (Moderate Evidence).
Cholestasis v0.10 GNAS Ivone Leong Source Other was added to GNAS.
Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene GNAS was changed from to Other - please provide details in the comments
Added phenotypes Cholestasis; McCune-Albright syndrome for gene: GNAS
Publications for gene GNAS were changed from to 10673080
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.5 GNAS Anna de Burca Deleted their comment
Cholestasis v0.4 GNAS Ivone Leong Source Expert Review Green was added to GNAS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Cholestasis v0.3 GNAS Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cholestasis v0.2 GNAS Ivone Leong gene: GNAS was added
gene: GNAS was added to Cholestasis. Sources: NHS GMS
Mode of inheritance for gene: GNAS was set to