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.
Created: 29 Oct 2020, 3:47 p.m. | Last Modified: 29 Oct 2020, 3:47 p.m.
Panel Version: 1.57
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
Created: 8 Aug 2020, 5:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Wilson disease, MIM# 277900
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: ATP7B were set to
Phenotypes for gene: ATP7B were changed from Wilson disease, MIM# 277900 to Wilson disease, 277900
Gene: atp7b has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: ATP7B.
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