Cholestasis

Gene: ATP7B

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.

Panel Version: 1.105

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

Green List (high evidence)

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

Phenotypes
Wilson disease, MIM# 277900

Variants in this GENE are reported as part of current diagnostic practice