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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.83 | GFRA1 |
Zornitza Stark gene: GFRA1 was added gene: GFRA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis Review for gene: GFRA1 was set to AMBER Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.50 | SOX17 | Zornitza Stark Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3; OMIM #613674 to Vesicoureteral reflux 3; OMIM #613674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.49 | SOX17 | Zornitza Stark Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3; OMIM #613674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.45 | TNXB | Zornitza Stark Phenotypes for gene: TNXB were changed from to Vesicoureteral reflux 8, MIM# 615963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.37 | TNXB | Zornitza Stark reviewed gene: TNXB: Rating: RED; Mode of pathogenicity: None; Publications: 23620400; Phenotypes: Vesicoureteral reflux 8, MIM# 615963; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.36 | SOX17 | Chirag Patel reviewed gene: SOX17: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20960469; Phenotypes: Vesicoureteral reflux 3, OMIM #613674; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.26 | BNC2 |
Chirag Patel gene: BNC2 was added gene: BNC2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic. Sources: Literature Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BNC2 were set to PMID: 31656805, 31051115 Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital; OMIM #618612 Review for gene: BNC2 was set to GREEN Added comment: Kolvenbach CM et al., (2019) supports the rating of this gene from Amber to Green. Though exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853∗]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage. Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET 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: RET was set to Unknown |
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