Unexplained young onset end-stage renal disease - additional genes

Gene: SOX17

Red List (low evidence)

SOX17 (SRY-box 17)
EnsemblGeneIds (GRCh38): ENSG00000164736
EnsemblGeneIds (GRCh37): ENSG00000164736
OMIM: 610928, Gene2Phenotype
SOX17 is in 7 panels

3 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
Unknown

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.

Helen Stuart (University of Manchester)

Red List (low evidence)

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 3, OMIM:613674
OMIM
610928
Clinvar variants
Variants in SOX17
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: SOX17 were changed from Vesicoureteral reflux 3, 613674 to Vesicoureteral reflux 3, OMIM:613674

27 Sep 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17

25 Sep 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SOX17 was added gene: SOX17 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SOX17 was set to Unknown Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674