Leukodystrophy - adult onset
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
Bryony Thompson (Royal Melbourne Hospital)
White matter changes have been reported in Wilson's disease, but it doesn't appear to be a common feature of the condition.
Sources: Expert listCreated: 18 Jan 2020, 1:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, 277900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Wilson disease, 277900
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Publications
- 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
3 May 2020, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7b has been classified as Amber List (Moderate Evidence).
18 Jan 2020, Gel status: 2
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atp7b has been classified as Amber List (Moderate Evidence).
18 Jan 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATP7B was added gene: ATP7B was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 16966556; 12020274 Phenotypes for gene: ATP7B were set to Wilson disease, 277900 Review for gene: ATP7B was set to AMBER