CAKUT
Gene: ROBO2EnsemblGeneIds (GRCh38): ENSG00000185008
EnsemblGeneIds (GRCh37): ENSG00000185008
OMIM: 602431, Gene2Phenotype
ROBO2 is in 4 panels
6 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 4 variants reported in at least 4 families, together with supportive mouse models.Created: 21 May 2020, 3:20 p.m. | Last Modified: 21 May 2020, 3:20 p.m.
Panel Version: 1.140
Zornitza Stark (Australian Genomics)
Several additional recent publications linking ROBO2 to CAKUT; in addition mouse models support gene-disease association.Created: 16 Jan 2020, 4:26 a.m. | Last Modified: 16 Jan 2020, 4:26 a.m.
Panel Version: 1.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CAKUT
Publications
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 Green
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Vesicoureteral reflux 2 610878
- OMIM
- 602431
- Clinvar variants
- Variants in ROBO2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: robo2 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2 610878
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: ROBO2 were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ROBO2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ROBO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ROBO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene ROBO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)ROBO2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)ROBO2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services