Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: TMEFF1EnsemblGeneIds (GRCh38): ENSG00000241697
EnsemblGeneIds (GRCh37): ENSG00000241697
OMIM: 603421, Gene2Phenotype
TMEFF1 is in 1 panel
3 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 1:46 p.m. | Last Modified: 11 Mar 2026, 1:46 p.m.
Panel Version: 8.82
Achchuthan Shanmugasundram (Genomics England Curator)
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.Created: 22 Oct 2025, 3:43 p.m. | Last Modified: 22 Oct 2025, 3:43 p.m.
Panel Version: 8.55
As reviewed by Boaz Palterer, PMID:39048830 (2024) reported the identification of rare homozygous variants in two unrelated patients with herpes simplex virus 1 (HSV-1) encephalitis (HSE). Patient 1 harboured missense variant (c.130C>G, p.P44A), while patient 2 had splice-site variant (c.1059-2A>G) .
There is also extensive functional evidence from ex vivo and in vitro data, as reported in PMIDs: 39048823 & 39048830. Notably, Tmeff1-/- mice exhibited increased susceptibility to HSV-1 infection in the brain.
This gene has not yet been associated with any relevant phenotypes in OMIM (accessed on 22 October 2025).Created: 22 Oct 2025, 3:41 p.m. | Last Modified: 22 Oct 2025, 3:41 p.m.
Panel Version: 8.53
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174
Publications
Boaz Palterer (University of Florence)
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: LiteratureCreated: 29 Aug 2024, 5 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Herpes encephalitis; HSE
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174
- OMIM
- 603421
- Clinvar variants
- Variants in TMEFF1
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q3_25_promote_green was removed from gene: TMEFF1.
Added New Source, Added New Source, Status Update
Ida Ertmanska (Genomics England Curator)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)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: tmeff1 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: TMEFF1.
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TMEFF1 were changed from Herpes encephalitis; HSE to encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Boaz Palterer (University of Florence)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