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  2. Unexplained young onset end-stage renal disease - additional genes
  3. ROBO2
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Unexplained young onset end-stage renal disease - additional genes

Gene: ROBO2

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

6 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

This gene has been added to this panel with red rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.
Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 25 Sep 2024, 9:36 p.m.
Last Modified: 25 Sep 2024, 9:36 p.m.
Panel version: 0.65

Eleanor Williams (Genomics England Curator)

I don't know

Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of Red
Created: 9 Apr 2019, 11:17 a.m.
Created: 9 Apr 2019, 11:17 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Helen Stuart (University of Manchester)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Nov 2017, 2:37 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Created: 5 Nov 2017, 2:37 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Red List (low evidence)

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

Created: 22 Apr 2016, 11:39 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

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.
Created: 29 Mar 2016, 10:33 a.m.

Copied from panel: Unexplained young onset end-stage renal disease v5.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 2, OMIM:610878
OMIM
602431
Clinvar variants
Variants in ROBO2
Penetrance
None
Panels with this gene

History Filter Activity

28 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2, OMIM:610878

27 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux for gene: ROBO2

25 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ROBO2 was added gene: ROBO2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878