Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: ROBO2

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

Created: 26 Mar 2022, 6:36 a.m.
Last Modified: 26 Mar 2022, 6:36 a.m.
Panel version: Imported from Mendeliome panel version 0.11996

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

Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic Gene: ROBO2