Susceptibility to Viral Infections
Gene: TMEFF1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related
2 unrelated patients with severe HSV encephalitis. Functional validation showing that human TMEFF1 encodes a type I IFN-independent, cortical neuron- and CNS-intrinsic restriction factor that is effective against HSV-1 that operates by impairing the entry of HSV-1 into cortical neurons.
Sources: LiteratureCreated: 12 Aug 2024, 12:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hsv encephalitis
Publications
Gene: tmeff1 has been classified as Green List (High Evidence).
Phenotypes for gene: TMEFF1 were changed from hsv encephalitis to Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; HSV encephalitis
Gene: tmeff1 has been classified as Green List (High Evidence).
gene: TMEFF1 was added gene: TMEFF1 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEFF1 were set to PMID: 39048830 Phenotypes for gene: TMEFF1 were set to hsv encephalitis Review for gene: TMEFF1 was set to GREEN