CAKUT
Gene: ROBO2Comment 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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Comment on list classification: Demoted from amber to red as two reviewers in agreement.Created: 29 Mar 2016, 10:33 a.m.
Gene: robo2 has been classified as Green List (High Evidence).
Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2 610878
Publications for gene: ROBO2 were set to
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
ROBO2 was added to Congenital Anomaly of the Kidneys and Urinary Tract (CAKUT)panel. Sources: Expert list
Model of inheritance for gene ROBO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ROBO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ROBO2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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