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Genetic Epilepsy

Gene: CP

Amber List (moderate evidence)

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

1 review

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Reports of patients x3 with seizures as part of this phenotype.
***This is an adult onset brain iron accumulation neurodegenerative disorder***
Sources: Expert list
Created: 4 Jan 2024, 1:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290
OMIM
117700
Clinvar variants
Variants in CP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cp has been classified as Amber List (Moderate Evidence).

4 Jan 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cp has been classified as Amber List (Moderate Evidence).

4 Jan 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

gene: CP was added gene: CP was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CP were set to PMID: 32741407, PMID: 18200628 Phenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290 Review for gene: CP was set to AMBER