Renal and urinary tract disorders
Gene: ROBO2EnsemblGeneIds (GRCh38): ENSG00000185008
EnsemblGeneIds (GRCh37): ENSG00000185008
OMIM: 602431, Gene2Phenotype
ROBO2 is in 4 panels
4 reviews
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bill Newman (Manchester Centre for Genomic Medicine)
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)
Several papers show association of vesicoureteric reflux with heterozygous ROBO2 polymorphisms but other studies do not. On the other hand, good evidence that biallelic mutations cause major renal tract malformations in mice.Created: 22 Apr 2016, 11:39 a.m.
Mode of inheritance
Unknown
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from amber to red as two reviewers in agreement.Created: 29 Mar 2016, 10:33 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Vesicoureteral reflux 2, 610878
- Vesicoureteral Reflux
- OMIM
- 602431
- Clinvar variants
- Variants in ROBO2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen McDonagh: Comment on list classification
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux for gene: ROBO2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ROBO2 was added gene: ROBO2 was added to Renal and urinary tract disorders. Sources: 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 Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux