Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Gene: ROBO2

Green List (high evidence)

ROBO2 (roundabout guidance receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000185008
EnsemblGeneIds (GRCh37): ENSG00000185008
OMIM: 602431, Gene2Phenotype
ROBO2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established association with VUR/CAKUT. Some of the variants reported are present at a low population frequency in gnomad.
Created: 26 Mar 2022, 6:36 a.m. | Last Modified: 26 Mar 2022, 6:36 a.m.
Panel Version: 0.11996

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vesicoureteral reflux 2 - MIM#610878; CAKUT

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
602431
Clinvar variants
Variants in ROBO2
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ROBO2 was added gene: ROBO2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ROBO2 was set to Unknown