Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: COPA

Green List (high evidence)

COPA (coatomer protein complex subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000122218
EnsemblGeneIds (GRCh37): ENSG00000122218
OMIM: 601924, Gene2Phenotype
COPA is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: COPA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? not submitted; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Primary immunodeficiency
Created: 27 Feb 2019, 3:14 p.m.

Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)

Green List (high evidence)

Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.
Created: 27 Feb 2019, 2:22 p.m.

Details

Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
OMIM
601924
Clinvar variants
Variants in COPA
Penetrance
None
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to COPA. Rating Changed from Red List (low evidence) to Green List (high evidence)

27 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to COPA.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: COPA was added gene: COPA was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: COPA was set to