Genes in panel

Adult onset movement disorder

Gene: CP

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia 604290
  • Aceruloplasminemia
  • Hypoceruloplasminemia, hereditary 604290
  • Dystonia
  • Hemosiderosis, systemic, due to aceruloplasminemia 604290
OMIM
117700
Clinvar variants
Variants in CP
Penetrance
None
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CP.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to CP.

3 Jan 2019, Gel status: 4

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