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  3. DBR1
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Defects of intrinsic and innate immunity

Gene: DBR1

Green List (high evidence)
DBR1 (debranching RNA lariats 1)
EnsemblGeneIds (GRCh38): ENSG00000138231
EnsemblGeneIds (GRCh37): ENSG00000138231
OMIM: 607024, Gene2Phenotype
DBR1 is in 6 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

IUIS IEI committee classification as a defect in innate and intrinsic immunity in the subcategory of herpes simplex encephalitis. At least 4 families reported.
Sources: Expert list
Created: 19 Nov 2024, 10:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 19 Nov 2024, 10:11 a.m.

Panel version: 0.155

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Sources: Expert list
Created: 5 Apr 2020, 8:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem

Publications

Created: 5 Apr 2020, 8:31 a.m.

Panel version: Imported from Susceptibility to Viral Infections panel version 0.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334
OMIM
607024
Clinvar variants
Variants in DBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dbr1 has been classified as Green List (High Evidence).

19 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dbr1 has been classified as Green List (High 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: DBR1 was added gene: DBR1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 39023559; 29474921 Phenotypes for gene: DBR1 were set to encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334 Review for gene: DBR1 was set to GREEN gene: DBR1 was marked as current diagnostic