Incidentalome_PREGEN_DRAFT
Gene: ATP7B
ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 22 panels
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 22 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
A gene related to Wilson disease which is in part treatable but is unlikely to present in fetal life.
Needs discussionCreated: 4 Dec 2020, 3:59 a.m. | Last Modified: 4 Dec 2020, 3:59 a.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Panels with this gene
-
- Cerebral Palsy
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Additional findings_Adult
- Prepair 1000+
- Cholestasis
- Brain Channelopathies
- Liver Failure_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Metal Metabolism Disorders
- Transplant Co-Morbidity Superpanel
- Early-onset Parkinson disease
- Regression
- Incidentalome
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Prepair 500+
History Filter Activity
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP7B was added gene: ATP7B was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: ATP7B was set to Unknown