Groopman et al 2019 - Genes with diagnostic variants
Gene: ROBO2EnsemblGeneIds (GRCh38): ENSG00000185008
EnsemblGeneIds (GRCh37): ENSG00000185008
OMIM: 602431, Gene2Phenotype
ROBO2 is in 4 panels
1 review
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: ROBO2; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Vesicoureteral reflux 2; OMIM phenotype MIM No.: 610878; Number of cases: 1Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review red
- Literature
- Phenotypes
-
- Congenital or cystic renal disease
- Vesicoureteral reflux 2
- MIM 610878
- OMIM
- 602431
- Clinvar variants
- Variants in ROBO2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to ROBO2.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ROBO2 was added gene: ROBO2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ROBO2 were set to Congenital or cystic renal disease; Vesicoureteral reflux 2; MIM 610878