| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.13 | CHUK | Arina Puzriakova Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.12 | CHUK | Arina Puzriakova Classified gene: CHUK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.12 | CHUK | Arina Puzriakova Added comment: Comment on list classification: New gene added by Inga Nartisa. Biallelic variants are typically associated with Cocoon syndrome (MIM# 613630; definitive in G2P) or Popliteal pterygium syndrome (MIM# 619339), but immune deficits are not known to be associated. Only a single patient with a history of recurrent pneumonias and failure to thrive identified to date with a homozygous variant in this gene (PMID: 34533979). Therefore, rating Red for now, awaiting further cases/reports that corroborate this association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.12 | CHUK | Arina Puzriakova Gene: chuk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 | CHUK |
Inga Nartisa gene: CHUK was added gene: CHUK was added to Primary immunodeficiency. Sources: Expert Review,Literature Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHUK were set to PMID: 35748970; PMID: 34533979 Phenotypes for gene: CHUK were set to recurrent infections; skeletal abnormalities; absent secondary lymphoid structures; reduced B cell numbers; hypogammaglobulinemia; lymphocytic infiltration of intestine and liver Review for gene: CHUK was set to GREEN Added comment: Sources: Expert Review, Literature |
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