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Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 TMEFF1 Ida Ertmanska Tag Q3_25_promote_green was removed from gene: TMEFF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.82 TMEFF1 Ida Ertmanska reviewed gene: TMEFF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v8.81 TMEFF1 Ida Ertmanska Source NHS GMS was added to TMEFF1.
Source Expert Review Green was added to TMEFF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.55 TMEFF1 Achchuthan Shanmugasundram Classified gene: TMEFF1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v8.55 TMEFF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated cases and functional studies, including mice model) for the promotion of this gene to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.55 TMEFF1 Achchuthan Shanmugasundram Gene: tmeff1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v8.54 TMEFF1 Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: TMEFF1.
Primary immunodeficiency or monogenic inflammatory bowel disease v8.54 TMEFF1 Achchuthan Shanmugasundram Phenotypes for gene: TMEFF1 were changed from Herpes encephalitis; HSE to encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174
Primary immunodeficiency or monogenic inflammatory bowel disease v8.53 TMEFF1 Achchuthan Shanmugasundram reviewed gene: TMEFF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39048823, 39048830; Phenotypes: encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 TMEFF1 Boaz Palterer gene: TMEFF1 was added
gene: TMEFF1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEFF1 were set to 39048823; 39048830
Phenotypes for gene: TMEFF1 were set to Herpes encephalitis; HSE
Penetrance for gene: TMEFF1 were set to unknown
Review for gene: TMEFF1 was set to GREEN
Added comment: Chan et al described 2 patients from unrelated kindreds with homozygous LOF variants in TMEFF1 presenting with HSE. Extensive ex vivo and in vitro data, including mice model.
Sources: Literature