CAKUT

Gene: ROBO1

No list

ROBO1 (roundabout guidance receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000169855
EnsemblGeneIds (GRCh37): ENSG00000169855
OMIM: 602430, Gene2Phenotype
ROBO1 is in 4 panels

1 review

Laura Claus (UMC Utrecht)

Green List (high evidence)

Sources: Literature
Created: 10 Jun 2022, 8:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
unilateral kidney agenesis; bilateral kidney agenesis; vesicoureteral junction obstruction; vesicoureteral reflux; posterior urethral valve; genital malformation; increased kidney echogenicity

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • unilateral kidney agenesis
  • bilateral kidney agenesis
  • vesicoureteral junction obstruction
  • vesicoureteral reflux
  • posterior urethral valve
  • genital malformation
  • increased kidney echogenicity
OMIM
602430
Clinvar variants
Variants in ROBO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2022, Gel status: 0

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

Laura Claus (UMC Utrecht)

gene: ROBO1 was added gene: ROBO1 was added to CAKUT. Sources: Literature Mode of inheritance for gene: ROBO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ROBO1 were set to 35227688 Phenotypes for gene: ROBO1 were set to unilateral kidney agenesis; bilateral kidney agenesis; vesicoureteral junction obstruction; vesicoureteral reflux; posterior urethral valve; genital malformation; increased kidney echogenicity Review for gene: ROBO1 was set to GREEN