Neurodegeneration with brain iron accumulation
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
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Aceruloplasminemia is characterised by iron accumulation in the brain and viscera.
Well established gene disease association with multiple reported cases with variants in CP and imaging suggestive of iron accumulation.
Heterozygous individuals have been reported to have a milder phenotype but can also present with iron accumulation.Created: 3 Dec 2024, 5:42 a.m. | Last Modified: 3 Dec 2024, 5:42 a.m.
Panel Version: 0.35
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
aceruloplasminemia MONDO:0011426
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- GeneReviews
- Expert Review Green
- Phenotypes
-
- Aceruloplasminemia
- OMIM
- 117700
- Clinvar variants
- Variants in CP
- Penetrance
- None
- 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
10 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CP was added gene: CP was added to Neuroferritinopathies. Sources: Expert Review Green,GeneReviews Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Aceruloplasminemia