Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MCTS1
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.Created: 5 Jan 2024, 6:45 p.m. | Last Modified: 5 Jan 2024, 6:45 p.m.
Panel Version: 4.155
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Inherited susceptibility to mycobacterial diseases, MONDO:0019146
Publications
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: LiteratureCreated: 24 Oct 2023, 7:46 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection
Gene: mcts1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MCTS1 were changed from MSMD; non tubercular mycobacteria infection; BCGtis; BCG infection to Inherited susceptibility to mycobacterial diseases, MONDO:0019146
Publications for gene: MCTS1 were set to
Tag Q4_23_promote_green tag was added to gene: MCTS1.
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