| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.484 | CTNNBL1 | Sophie Hambleton reviewed gene: CTNNBL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 | CTNNBL1 | Arina Puzriakova Classified gene: CTNNBL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 | CTNNBL1 | Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but additional cases required to validate pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.185 | CTNNBL1 | Arina Puzriakova Gene: ctnnbl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | CTNNBL1 | Arina Puzriakova reviewed gene: CTNNBL1: Rating: ; Mode of pathogenicity: None; Publications: 32484799; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | CTNNBL1 | Boaz Palterer edited their review of gene: CTNNBL1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | CTNNBL1 |
Boaz Palterer gene: CTNNBL1 was added gene: CTNNBL1 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CTNNBL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNBL1 were set to 32484799 Phenotypes for gene: CTNNBL1 were set to Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency Penetrance for gene: CTNNBL1 were set to unknown Review for gene: CTNNBL1 was set to AMBER Added comment: Sources: Literature |
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