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Newborns main panel

Gene: CP

Amber List (moderate evidence)
CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 13 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 32235485 - 11 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CP. Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP

31 May 2023, Gel status: 1

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP

9 May 2023, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Red was added to CP. Added phenotypes Hemosiderosis, systemic, due to aceruloplasminemia for gene: CP Rating Changed from No List (delete) to Red List (low evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CP was added gene: CP was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal