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  3. CP
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Dystonia - complex

Gene: CP

Green List (high evidence)
CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Iron deposition in brain, specifically in basal ganglia, resulting in extrapyramidal movement disorders as part of the neurodegenerative phenotype.
Created: 5 Sep 2020, 4:49 a.m. | Last Modified: 5 Sep 2020, 4:49 a.m.
Panel Version: 0.84

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aceruloplasminaemia, MIM#604290

Created: 29 Nov 2019, 10:09 p.m.
Last Modified: 29 Nov 2019, 10:09 p.m.
Panel version: 0.84

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Aceruloplasminaemia, MIM#604290
OMIM
117700
Clinvar variants
Variants in CP
Penetrance
None
Panels with this gene

History Filter Activity

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cp has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CP were changed from Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290 to Aceruloplasminaemia, MIM#604290

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CP was added gene: CP was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290