Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: COPG1Comment on list classification: New gene added by Inga Nartisa. Not yet associated with any phenotype in OMIM or G2P. Only a single family reported to date with a homozygous variant (p.K652E) in this gene (PMID: 33529166). Five affected siblings presented with persistent bacterial and viral infections and defective humoral and cellular immunity. Some functional studies including a mouse model. However, as only a single case has been identified rating as Red for now, awaiting further cases/reports that corroborate this association.Created: 17 May 2023, 3:29 p.m. | Last Modified: 17 May 2023, 3:29 p.m.
Panel Version: 4.14
Sources: Expert Review, LiteratureCreated: 29 Nov 2022, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
persistent bacterial infection; persistent viral infections; defective humoral and cellular immunity
Publications
Publications for gene: COPG1 were set to PMID: 35748970; PMID: 33529166
Gene: copg1 has been classified as Red List (Low Evidence).
gene: COPG1 was added gene: COPG1 was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: COPG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPG1 were set to PMID: 35748970; PMID: 33529166 Phenotypes for gene: COPG1 were set to persistent bacterial infection; persistent viral infections; defective humoral and cellular immunity Review for gene: COPG1 was set to GREEN