Adult onset dystonia, chorea or related movement disorder
Gene: CPEnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Cerebellar ataxia, OMIM:604290
- Hypoceruloplasminemia, hereditary, OMIM:604290
- Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
- OMIM
- 117700
- Clinvar variants
- Variants in CP
- Penetrance
- None
- Panels with this gene
-
- Iron metabolism disorders - NOT common HFE mutations
- Hereditary ataxia
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- 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
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CP were changed from Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 to Cerebellar ataxia, OMIM:604290; Hypoceruloplasminemia, hereditary, OMIM:604290; Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CP.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to CP.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CP was added gene: CP was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia 604290; Aceruloplasminemia; Hypoceruloplasminemia, hereditary 604290; Dystonia; Hemosiderosis, systemic, due to aceruloplasminemia 604290