Mendelian susceptibility to Immune Disorders
Gene: MCTS1
6 male subjects from 5 kindreds with LOF MCTS-1 variants with MSMD.
Extensive ex-vivo functional validation and mouse model.
Sources: LiteratureCreated: 3 Nov 2023, 6:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
Publications
Phenotypes for gene: MCTS1 were changed from Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related to Immunodeficiency 118, mycobacteriosis, MIM# 301115
Gene: mcts1 has been classified as Green List (High Evidence).
Gene: mcts1 has been classified as Green List (High Evidence).
Gene: mcts1 has been classified as Green List (High Evidence).
gene: MCTS1 was added gene: MCTS1 was added to Mendelian susceptibility to Immune Disorders. Sources: Literature Mode of inheritance for gene: MCTS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MCTS1 were set to 37875108 Phenotypes for gene: MCTS1 were set to Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related Review for gene: MCTS1 was set to GREEN