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  3. ROBO2
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Fetal anomalies

Gene: ROBO2

Red List (low evidence)
ROBO2 (roundabout guidance receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000185008
EnsemblGeneIds (GRCh37): ENSG00000185008
OMIM: 602431, Gene2Phenotype
ROBO2 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. 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, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Soo-Mi Park (Cambridge University Hospital NHS Foundation Trust)

Red List (low evidence)

No significantly convincing evidence in published literature
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vesicoureteral reflux 2, MIM#610878

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Vesicoureteral reflux 2, OMIM:610878
OMIM
602431
Clinvar variants
Variants in ROBO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ROBO2 was added gene: ROBO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROBO2 were set to 19350278; 17357069; 26026792; 29194579; 34059960; 18235093; 24429398 Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2, OMIM:610878