Neurodegeneration with brain iron accumulation
Gene: ATP7BEnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 22 panels
2 reviews
Shekeeb Mohammad (Children's Hospital at Westmead)
the MRI correlate of iron deposition in Wilson's disease is different from copper related changes and Iron deposition is well described on tissue analysis as well as longitudinal studies.Created: 14 Feb 2024, 2:13 p.m. | Last Modified: 14 Feb 2024, 2:13 p.m.
Panel Version: 0.31
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Coper rather than iron deposition. Rated Amber due to possible phenotypic overlap.Created: 10 Jul 2023, 10:19 a.m. | Last Modified: 10 Jul 2023, 10:19 a.m.
Panel Version: 0.26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, MIM# 277900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Wilson disease, MIM# 277900
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- 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
- Additional findings_Adult
- Dystonia - complex
- Ataxia - adult onset
- Prepair 500+
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7b has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP7B were changed from dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia to Wilson disease, MIM# 277900
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Shekeeb Mohammad (Children's Hospital at Westmead)gene: ATP7B was added gene: ATP7B was added to Neuroferritinopathies. Sources: Literature,Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 27543917; 28376267 Phenotypes for gene: ATP7B were set to dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia gene: ATP7B was marked as current diagnostic