Neonatal cholestasis
Gene: ATP7BComment on list classification: Based on comments by Helen Britain, Genomics England Clinical FellowCreated: 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.
Publications
This panel has been subjected to extensive internal and external review.
Gene: atp7b has been classified as Green List (High Evidence).
Gene: atp7b has been classified as Green List (High Evidence).
Publications for gene: ATP7B were set to 23556051; 30120852
Gene: atp7b has been classified as Red List (Low Evidence).
Mode of inheritance for gene: ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease 277900
ATP7B was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
ATP7B was created by Ellen McDonagh