Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Cholestasis v1.59 ATP7B Ivone Leong Publications for gene: ATP7B were set to
Cholestasis v1.58 ATP7B Ivone Leong Phenotypes for gene: ATP7B were changed from Wilson disease, MIM# 277900 to Wilson disease, 277900
Cholestasis v1.57 ATP7B Ivone Leong Classified gene: ATP7B as Amber List (moderate evidence)
Cholestasis v1.57 ATP7B Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.4) with the following review:
"Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on comments by Helen Britain, Genomics England Clinical Fellow
Created: 3 Sep 2018, 11:31 a.m.

Associated with phenotype in OMIM and not in Gen2Phen. Numerous variants identified in unrelated cases, however, seldom reported in young children.

Comments of Helen Britain, Genomics England Clinical Fellow "the age of onset is often later than the target range of this panel, however when there is a juvenile onset, the presentation is often primarily hepatic. There are treatment options for affected individuals and confirmatory biochemical tests. Therefore, even though this is not a classical phenotypic fit, I think on balance it worth including."
Created: 14 Aug 2018, 9:33 a.m."

Therefore, this Gene has been given an Amber gene rating and will be promoted to Green status at next review.
Cholestasis v1.57 ATP7B Ivone Leong Gene: atp7b has been classified as Amber List (Moderate Evidence).
Cholestasis v1.56 ATP7B Ivone Leong Tag for-review tag was added to gene: ATP7B.
Cholestasis v1.16 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Cholestasis. Sources: Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, MIM# 277900
Review for gene: ATP7B was set to GREEN
gene: ATP7B was marked as current diagnostic
Added comment: Although the classic presentation of Wilson's disease is with hepatitis or liver failure, consider including in this panel as a relatively common, treatable cause of liver disease.
Sources: Expert list