Structural basal ganglia disorders
Gene: CP
CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 13 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 5 variants reportedCreated: 6 Mar 2017, 1:13 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebellar ataxia 604290
- Hemosiderosis, systemic, due to aceruloplasminemia 604290
- [Hypoceruloplasminemia, hereditary] 604290
- OMIM
- 117700
- Clinvar variants
- Variants in CP
- Penetrance
- Complete
- Panels with this gene
-
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- 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
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CP were set to Cerebellar ataxia 604290; Hemosiderosis, systemic, due to aceruloplasminemia 604290; [Hypoceruloplasminemia, hereditary] 604290
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)CP was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)CP was added to Structural basal ganglia disorderspanel. Sources: Literature