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  2. Susceptibility to Viral Infections
  3. TMEFF1
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Susceptibility to Viral Infections

Gene: TMEFF1

Green List (high evidence)
TMEFF1 (transmembrane protein with EGF like and two follistatin like domains 1)
EnsemblGeneIds (GRCh38): ENSG00000241697
EnsemblGeneIds (GRCh37): ENSG00000241697
OMIM: 603421, Gene2Phenotype
TMEFF1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related

Created: 13 Aug 2024, 1:39 a.m.
Last Modified: 13 Aug 2024, 1:39 a.m.
Panel version: 0.126

Peter McNaughton (Queensland Children's Hospital)

Green List (high evidence)

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: Literature
Created: 12 Aug 2024, 12:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hsv encephalitis

Publications

Created: 12 Aug 2024, 12:17 a.m.

Panel version: 0.126

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related
  • HSV encephalitis
OMIM
603421
Clinvar variants
Variants in TMEFF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmeff1 has been classified as Green List (High Evidence).

13 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEFF1 were changed from hsv encephalitis to Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; HSV encephalitis

13 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmeff1 has been classified as Green List (High Evidence).

12 Aug 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Peter McNaughton (Queensland Children's Hospital)

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