Genes in panel

Hereditary ataxia - adult onset

Gene: CP

Green List (high evidence)

CP (ceruloplasmin)
EnsemblGeneIds (GRCh38): ENSG00000047457
EnsemblGeneIds (GRCh37): ENSG00000047457
OMIM: 117700, Gene2Phenotype
CP is in 14 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

On Sheffield panel. Iron accumulation in brain can cause ataxia. 56 DM in HGMD.
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple reports in literature
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aceruloplasminemia, 604290

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
  • Cerebellar ataxia, 604290
  • Aceruloplasminemia, 604290
OMIM
117700
Clinvar variants
Variants in CP
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to CP.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Aceruloplasminemia, 604290 for gene: CP

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CP.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CP.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CP were changed from Cerebellar ataxia, to Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: CP was added gene: CP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CP were set to Cerebellar ataxia,