Rare genetic inflammatory skin disorders
Gene: ATP7B
ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
1 review
Catherine Snow (Genomics England)
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:ATP7B; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.14
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Panels with this gene
-
- Iron metabolism disorders - NOT common HFE mutations
- Brain channelopathy
- Neonatal cholestasis
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Wilson disease
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Cholestasis
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
History Filter Activity
2 Sep 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: ATP7B was added gene: ATP7B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal