COPA

coatomer protein complex subunit alpha
OMIM: 601924, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green COPA in COVID-19 research


Level 2: Viral research
Version 1.141

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Autoimmune interstitial lung disease-arthritis syndrome
  • Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production
  • Autoinflammatory Disorders
  • Autoimmune inflammatoy arthritis and interstial lung disease, 616414
  • COPA syndrome
Green COPA in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Autoimmune inflammatoy arthritis and interstial lung disease, 616414
  • Autoimmune interstitial lung disease-arthritis syndrome
  • COPA syndrome
  • Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production
  • Autoinflammatory Disorders
Tags
  • missense
Green COPA in Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • {Autoimmune interstitial lung, joint, and kidney disease}, 616414