Early onset dystonia
Gene: CPEnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 13 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to feedback from Huw Morris (UCL). From the GeneReviews Neurodegeneration with Brain Iron Accumulation Disorders Overview, list of the genetic basis of ten types of NBIA (http://www.ncbi.nlm.nih.gov/books/NBK121988/)Created: 19 Aug 2016, 9:23 a.m.
Comment on list classification: This gene is not mentioned in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:15 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- Aceruloplasminemia
- Cerebellar ataxia, 604290
- Hemosiderosis, systemic, due to aceruloplasminemia, 604290
- OMIM
- 117700
- Clinvar variants
- Variants in CP
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia to Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CP were set to Dystonia; Aceruloplasminemia
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CP was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()CP was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory