Undiagnosed metabolic disorders
Gene: ATP7BEnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Wilson disease (Disorder of copper metabolism); Early onset dystoniaCreated: 6 Mar 2017, 12:41 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. More than 20 variants reportedCreated: 6 Mar 2017, 12:41 p.m.
Comment on phenotypes: Wilson disease (Disorder of copper metabolism); Early onset dystoniaCreated: 6 Mar 2017, 12:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early onset dystonia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Wilson disease 277900
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Wilson disease
- Rare genetic inflammatory skin disorders
- Structural basal ganglia disorders
- Cholestasis
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Paroxysmal central nervous system disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
- Iron metabolism disorders - NOT common HFE mutations
- Brain channelopathy
- Neonatal cholestasis
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATP7B were set to Wilson disease 277900
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATP7B were set to Wilson disease 277900
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
Set Mode of Inheritance, Added New Source
Sarah Leigh (Genomics England Curator)ATP7B was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)ATP7B was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)ATP7B was created by sleigh