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| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 | BNC2 | Zornitza Stark Marked gene: BNC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.61 | BNC2 | Zornitza Stark Gene: bnc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 | BNC2 | Chirag Patel Classified gene: BNC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.27 | BNC2 | Chirag Patel Gene: bnc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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