This Panel is marked as Internal
Intellectual disability update Jan 2018
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
1 review
Sarah Leigh (Genomics England Curator)
Not relevant to the ID panel, as adult age of onset and phenotype does not include features of intellectual disabilityCreated: 2 Jan 2018, 3:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
[Hypoceruloplasminemia, hereditary], 604290; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Details
- Sources
-
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
- OMIM
- 117700
- Clinvar variants
- Variants in CP
- Penetrance
- None
- Panels with this gene
-
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Early onset dystonia
- Hereditary ataxia with onset in adulthood
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Intellectual disability
- Iron metabolism disorders - NOT common HFE mutations
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
2 Jan 2018, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)CP was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber
18 Dec 2017, Gel status: 2
Created
Ellen McDonagh (Genomics England Curator)CP was created by Ellen McDonagh