Primary immunodeficiencyGene: DBR1
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
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
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
Viral infections of the brainstem
Variants in this GENE are reported as part of current diagnostic practice
Gene: dbr1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DBR1.
Gene: dbr1 has been classified as Green List (High Evidence).
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