Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: SOX17EnsemblGeneIds (GRCh38): ENSG00000164736
EnsemblGeneIds (GRCh37): ENSG00000164736
OMIM: 610928, Gene2Phenotype
SOX17 is in 4 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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
- PMID: 20960469
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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sox17 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3; OMIM #613674
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SOX17 were set to
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
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sox17 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: sox17 has been classified as Red List (Low Evidence).
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