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

Gene: SOX17

Red List (low evidence)

SOX17 (SRY-box 17)
EnsemblGeneIds (GRCh38): ENSG00000164736
EnsemblGeneIds (GRCh37): ENSG00000164736
OMIM: 610928, Gene2Phenotype
SOX17 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PAH: Rare variants in SOX17 identified in PAH cases, including four nonsense variants predicted to lead to loss of the beta-catenin binding region, and six missense variants predicted to disrupt interactions with Oct4 and beta-catenin.

CAKUT: 8 patients with CAKUT, 6 with the same mutation (Y259N) - reported in 2010. Review of gnomAD shows allele count 500, with 4 homozygotes. The findings called into question whether the Y259N variant is indeed pathogenic. DISPUTED.
Created: 6 Apr 2022, 9:30 p.m. | Last Modified: 6 Apr 2022, 9:30 p.m.
Panel Version: 0.12653

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924

Publications

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

8 patients with CAKUT, 6 with the same mutation (Y259N) - reported in 2010.
Review of gnomAD shows allele count 500, with 4 homozygotes. The findings called into question whether the Y259N variant is indeed pathogenic.
Created: 16 Jan 2020, 4:47 a.m. | Last Modified: 16 Jan 2020, 4:47 a.m.
Panel Version: 0.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Vesicoureteral reflux 3; OMIM #613674

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Vesicoureteral reflux 3
  • OMIM #613674
OMIM
610928
Clinvar variants
Variants in SOX17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3; OMIM #613674 to Vesicoureteral reflux 3; OMIM #613674

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox17 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3; OMIM #613674

16 Jan 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX17 were set to

16 Jan 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: sox17 has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: sox17 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX17 was added gene: SOX17 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: SOX17 was set to Unknown