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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 | TBX21 | Arina Puzriakova Classified gene: TBX21 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 | TBX21 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Boaz Palterer. Rating Red as only single patient reported at present with homozygous variants in the TBX21 gene resulting clinically in MSMD. Additional cases required to support pathogenicity and inclusion on a diagnostic panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.385 | TBX21 | Arina Puzriakova Gene: tbx21 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.384 | TBX21 |
Boaz Palterer gene: TBX21 was added gene: TBX21 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: TBX21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX21 were set to 33296702 Phenotypes for gene: TBX21 were set to Defects with susceptibility to mycobacterial infection (MSMD); Defects in Intrinsic and Innate Immunity Penetrance for gene: TBX21 were set to unknown Review for gene: TBX21 was set to RED Added comment: One patient from consanguineous parents with homozygous indel. Corroborated by in vitro and mouse model. Sources: Literature |
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