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Primary immunodeficiency

Gene: DBR1

Amber List (moderate evidence)

DBR1 (debranching RNA lariats 1)
EnsemblGeneIds (GRCh38): ENSG00000138231
EnsemblGeneIds (GRCh37): ENSG00000138231
OMIM: 607024, Gene2Phenotype
DBR1 is in 2 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:27 p.m. | Last Modified: 20 Oct 2020, 3:27 p.m.
Panel Version: 2.349

Catherine Snow (Genomics England)

Comment on list classification: DBR1 identified by expert review. DBR1 variants identified in unrelated patients from different ethnicities, each had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus
Created: 28 Apr 2020, 10:46 a.m. | Last Modified: 28 Apr 2020, 10:46 a.m.
Panel Version: 2.132

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants.
Created: 10 Apr 2020, 6:13 a.m. | Last Modified: 10 Apr 2020, 6:13 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Viral infections of the brainstem

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
Phenotypes
  • DBR1 deficiency
  • Defects in intrinsic and innate immunity
  • HSE of the brainstem. Other viral infections of the brainstem
Tags
for-review
OMIM
607024
Clinvar variants
Variants in DBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: dbr1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: DBR1.

28 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

26 Feb 2020, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: DBR1 was added gene: DBR1 was added to Primary immunodeficiency. Sources: IUIS Classification December 2019 Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 32086639; 32048120 Phenotypes for gene: DBR1 were set to DBR1 deficiency; Defects in intrinsic and innate immunity; HSE of the brainstem. Other viral infections of the brainstem