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  3. DBR1
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Fetal anomalies

Gene: DBR1

Amber List (moderate evidence)
DBR1 (debranching RNA lariats 1)
EnsemblGeneIds (GRCh38): ENSG00000138231
EnsemblGeneIds (GRCh37): ENSG00000138231
OMIM: 607024, Gene2Phenotype
DBR1 is in 4 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Green in PID, amber in Ichtiyosis panels UK. Amber review in R21 panel aus. Severe IUGR seen in all patients in literature. Amber reviews solely based on 37656279 7 children 4 consanuinous families all hom for same variant which is a founder variant Saudi Arabia. Amber in reviews as founder variatn by haplotype analysis. PMID 29474921 provides other variants with phenotpye of HSV encephalitis (green review on PID panel) - case 7 has null with missense and presented with severe IUGR - nothing else mentioned for other patients. PMID: 41366235 Another Saudi family hom for same variant 2 affected both severe IUGR - note 3.7 patients also have ASD/VSD. PMID 40683339 5 probands of EUropean ancestory all hom for a different missense variant that gives TTD phenotype but did not present prentally with IUGR/microcephaly but some did have this later. Suggests a spectrum. Green.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
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
OMIM
607024
Clinvar variants
Variants in DBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

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

Ida Ertmanska (Genomics England Curator)

gene: DBR1 was added gene: DBR1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DBR1 were set to 40683339; 41366235; 29474921; 37656279 Phenotypes for gene: DBR1 were set to xerosis and growth failure with immune and pulmonary dysfunction syndrome, MONDO:0957786; Xerosis and growth failure with immune and pulmonary dysfunction syndrome, OMIM:620510