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Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 | TNFSF13 | Arina Puzriakova Classified gene: TNFSF13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 | TNFSF13 | Arina Puzriakova Added comment: Comment on list classification: Relevant phenotype for this panel, but currently only a single case. Therefore, rating Red awaiting additional cases/clinical evidence to validate pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.189 | TNFSF13 | Arina Puzriakova Gene: tnfsf13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.188 | TNFSF13 | Arina Puzriakova reviewed gene: TNFSF13: Rating: ; Mode of pathogenicity: None; Publications: 32298700; Phenotypes: Common variable immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | TNFSF13 |
Boaz Palterer gene: TNFSF13 was added gene: TNFSF13 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TNFSF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFSF13 were set to 32298700 Phenotypes for gene: TNFSF13 were set to APRIL deficiency; Common variable immunodeficiency Penetrance for gene: TNFSF13 were set to unknown |