DBR1

debranching RNA lariats 1
OMIM: 607024, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green DBR1 in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 Phenotypes DBR1 deficiency Defects in intrinsic and innate immunity HSE of the brainstem. Other viral infections of the brainstem
Amber DBR1 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.21 Latest signed off version: v4.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ichthyosis, MONDO:0019269 Tags founder-effect
Green DBR1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 9.112 Latest signed off version: v9.91 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 Phenotypes DBR1 deficiency Defects in intrinsic and innate immunity HSE of the brainstem. Other viral infections of the brainstem
Amber DBR1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes xerosis and growth failure with immune and pulmonary dysfunction syndrome, MONDO:0957786 Xerosis and growth failure with immune and pulmonary dysfunction syndrome, OMIM:620510 Tags Q3_26_promote_green