Neonatal cholestasis
Gene: ATP7BEnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Wilson disease 277900
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Wilson disease
- Rare genetic inflammatory skin disorders
- Structural basal ganglia disorders
- Cholestasis
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Brain channelopathy
- Neonatal cholestasis
- Paroxysmal central nervous system disorders
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp7b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp7b has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ATP7B were set to 23556051; 30120852
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: atp7b has been classified as Red List (Low Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: ATP7B was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ATP7B were set to Wilson disease 277900
Added New Source
Ellen McDonagh (Genomics England Curator)ATP7B was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)ATP7B was created by Ellen McDonagh