Metal Metabolism Disorders
Gene: CP
CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS Genomic Medicine Service
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- 604290 ACERULOPLASMINEMIA
- 604290 Hemosiderosis, systemic, due to aceruloplasminemia
- OMIM
- 117700
- Clinvar variants
- Variants in CP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Early-onset Dementia
- Neurodegeneration with brain iron accumulation
- Additional findings_Paediatric
- Dystonia - complex
- Ataxia - adult onset
- Mendeliome
- BabyScreen+ newborn screening
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
History Filter Activity
22 Jan 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CP was added gene: CP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CP were set to 15338274 Phenotypes for gene: CP were set to 604290 ACERULOPLASMINEMIA; 604290 Hemosiderosis, systemic, due to aceruloplasminemia