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  2. Defects of intrinsic and innate immunity
  3. GTF3A
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Defects of intrinsic and innate immunity

Gene: GTF3A

Red List (low evidence)
GTF3A (general transcription factor IIIA)
EnsemblGeneIds (GRCh38): ENSG00000122034
EnsemblGeneIds (GRCh37): ENSG00000122034
OMIM: 600860, Gene2Phenotype
GTF3A is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

A single case is reported with common variable immunodeficiency and HSE, and some supporting functional assays.
Sources: Expert list
Created: 19 Nov 2024, 10:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
herpes simplex encephalitis MONDO:0012521

Publications

Created: 19 Nov 2024, 10:28 a.m.

Panel version: 0.157

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • herpes simplex encephalitis MONDO:0012521
OMIM
600860
Clinvar variants
Variants in GTF3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gtf3a has been classified as Red List (Low Evidence).

19 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GTF3A was added gene: GTF3A was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTF3A were set to 36399538 Phenotypes for gene: GTF3A were set to herpes simplex encephalitis MONDO:0012521 Review for gene: GTF3A was set to RED