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  3. ROBO4
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Fetal anomalies

Gene: ROBO4

Red List (low evidence)
ROBO4 (roundabout guidance receptor 4)
EnsemblGeneIds (GRCh38): ENSG00000154133
EnsemblGeneIds (GRCh37): ENSG00000154133
OMIM: 607528, Gene2Phenotype
ROBO4 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

This gene is associated with isolated aortic valve disease which wouldn't meet criteria for R21 currently, It doesn't appear to be part of a multisystem disease. Reduced penetrance is described also.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Aortic valve disease 3, OMIM:618496

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Aortic valve disease 3, OMIM:618496
OMIM
607528
Clinvar variants
Variants in ROBO4
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Aortic valve disease 3, OMIM:618496 for gene: ROBO4

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ROBO4 was added gene: ROBO4 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted