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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.15 | COPG1 | Arina Puzriakova Publications for gene: COPG1 were set to PMID: 35748970; PMID: 33529166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.14 | COPG1 | Arina Puzriakova Classified gene: COPG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.14 | COPG1 | Arina Puzriakova Added comment: Comment 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.14 | COPG1 | Arina Puzriakova Gene: copg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 | COPG1 |
Inga Nartisa 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 Added comment: Sources: Expert Review, Literature |
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