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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | MCTS1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MCTS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | MCTS1 | Sarah Leigh reviewed gene: MCTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 | MCTS1 |
Achchuthan Shanmugasundram Source NHS GMS was added to MCTS1. Source Expert Review Green was added to MCTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 | MCTS1 | Achchuthan Shanmugasundram Classified gene: MCTS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 | MCTS1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there is sufficient evidence available (five unrelated cases) for the association of hemizygous MCTS1 variants with MSMD. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.155 | MCTS1 | Achchuthan Shanmugasundram Gene: mcts1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.154 | MCTS1 | Achchuthan Shanmugasundram Phenotypes for gene: MCTS1 were changed from MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection to Inherited susceptibility to mycobacterial diseases, MONDO:0019146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.153 | MCTS1 | Achchuthan Shanmugasundram Publications for gene: MCTS1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 | MCTS1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MCTS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 | MCTS1 | Achchuthan Shanmugasundram reviewed gene: MCTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37875108; Phenotypes: Inherited susceptibility to mycobacterial diseases, MONDO:0019146; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.57 | MCTS1 |
Boaz Palterer gene: MCTS1 was added gene: MCTS1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MCTS1 were set to MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection Penetrance for gene: MCTS1 were set to Complete Review for gene: MCTS1 was set to GREEN Added comment: Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria https://doi.org/10.1016/j.cell.2023.09.024 Bohlen et al. identified 6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD. Extensive ex-vivo functional validation and mouse model. Sources: Literature |