Paroxysmal Dyskinesia
Gene: ATP7BEnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 22 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
In a recent cohort of 82 affected individuals, movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%).
Paroxysmal dyskinesia does not appear to be a common feature, and the gene is already included in the Dystonia_Complex panel. However, there are rare reports and this is a treatable disorder.Created: 11 Sep 2020, 7:23 a.m. | Last Modified: 15 Sep 2020, 1:04 a.m.
Panel Version: 0.79
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, MIM# 277900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Children's Hospital Neurology Department
- Victorian Clinical Genetics Services
- Phenotypes
-
- Wilson disease, MIM# 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7b has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP7B were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp7b has been classified as Red List (Low Evidence).
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 Paroxysmal dyskinesia_VCGS. Sources: Victorian Clinical Genetics Services,Expert Review Green,Royal Children's Hospital Neurology Department Mode of inheritance for gene: ATP7B was set to Unknown