Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Gene: SOX17
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
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
Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3; OMIM #613674 to Vesicoureteral reflux 3; OMIM #613674
Gene: sox17 has been classified as Red List (Low Evidence).
Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3; OMIM #613674
Publications for gene: SOX17 were set to
Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: sox17 has been classified as Red List (Low Evidence).
Gene: sox17 has been classified as Red List (Low Evidence).
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