DDG2P
Gene: ROBO1

ROBO1 (roundabout guidance receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169855
EnsemblGeneIds (GRCh37): ENSG00000169855
OMIM: 602430, Gene2Phenotype
ROBO1 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for ROBO1-related neurooculorenal syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 28286008, 29194579, 30692597, 35227688). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03771.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ROBO1-related neurooculorenal syndrome; OMIM:620305.0; MONDO:0957210

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MONDO:0957210
ROBO1-related neurooculorenal syndrome
OMIM:620305.0

OMIM

602430

Clinvar variants

Variants in ROBO1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ROBO1 was added gene: ROBO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO1 were set to 29194579; 35227688; 30692597; 28286008 Phenotypes for gene: ROBO1 were set to MONDO:0957210; ROBO1-related neurooculorenal syndrome; OMIM:620305.0

DDG2P Gene: ROBO1