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Childhood onset dystonia or chorea or related movement disorder

Gene: CP

Red List (low evidence)

CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 14 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Confirmed Red rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. red - Onset between age 30-50 years
Created: 12 Dec 2019, 3:48 p.m. | Last Modified: 12 Dec 2019, 3:48 p.m.
Panel Version: 0.258

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to CP. Mode of inheritance for gene CP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar ataxia 604290; Dystonia; [Hypoceruloplasminemia, hereditary] 604290; Aceruloplasminemia; Hemosiderosis, systemic, due to aceruloplasminemia 604290 for gene: CP

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CP was added gene: CP was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CP was set to