Neurodegeneration with brain iron accumulation

Gene: CP

Green List (high evidence)

CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 12 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

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

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