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| Unexplained young onset end-stage renal disease - additional genes v2.6 | ROBO2 |
Ida Ertmanska changed review comment from: PMID: 34059960 Liu et al., 2021 Study of 379 unrelated Chinese patients with Primary vesicoureteral reflux. Patient 372 - male, 7yo, no extra-renal phenotype; het for ROBO2: 2381C>T, p.Ala794Val (not in gnomAD 4.1.1) Patient 373 - male, 7yo, no extra-renal phenotype; het for ROBO2: 3230C>G, p.Pro1077Arg (only 1 allele reported in gnomAD v4.1.1) Both classified VUS in the paper according to ACMG criteria. PMID: 32041992 Darlow et al., 2020 Irish vesicoureteric reflux patients - 251 families screened for ROBO2 variants. Non-coding variant in CpG island of ROBO2a was present in the VUR cases in one family, that was not present in 592 healthy Irish controls. Potential disease mechanism could be altered methylation of ROBO2. PMID: 29194579 Rasmussen et al., 2018 Fetus 43 - affected by bilateral kidney agenesis, hypertrophic heart. Het for ROBO2 NM_002942.4: c.2005C>G, p.Arg669Gly, as well as a SLIT2 variant c.1022C>T, p.Pro341Leu - variants not in gnomAD. SLIT2 variants have also been reported in association with CAKUT (e.g., PMID: 26026792 Hwang et al., 2015) - cannot decouple the effect. PMID: 27002985 Mitsioni et al., 2016 103 Greek children with nonsyndromic VUR or VUR-RHD (+ 200 controls) were screened for ROBO2 variants. ROBO2 variants were NOT found to be associated with nonsyndromic VUR or VUR-RHD. PMID: 24429398 Hwang et al., 2014 Cohort of 749 individuals from 650 different families with CAKUT, mostly from Eastern Europe (63%). 4 families had variants in ROBO2 - 2 of Indian origin, and 2 Eastern European. 4 unique ROBO2 missense variants were detected. Specific diagnoses of the 4 probands included Multicystic dysplastic kidney, Posterior urethral valves, Vesicoureteral reflux, and Ureteropelvic junction obstruction. ROBO2 is associated with AD Vesicoureteral reflux 2, OMIM:610878 (OMIM accessed 17th Aug 2026).; to: PMID: 34059960 Liu et al., 2021 Study of 379 unrelated Chinese patients with Primary vesicoureteral reflux. Patient 372 - male, 7yo, no extra-renal phenotype; het for ROBO2: 2381C>T, p.Ala794Val (not in gnomAD 4.1.1) Patient 373 - male, 7yo, no extra-renal phenotype; het for ROBO2: 3230C>G, p.Pro1077Arg (only 1 allele reported in gnomAD v4.1.1) Both classified VUS in the paper according to ACMG criteria. PMID: 32041992 Darlow et al., 2020 Irish vesicoureteric reflux patients - 251 families screened for ROBO2 variants. Non-coding variant in CpG island of ROBO2a was present in the VUR cases in one family, that was not present in 592 healthy Irish controls. Potential disease mechanism could be altered methylation of ROBO2. PMID: 29194579 Rasmussen et al., 2018 Fetus 43 - affected by bilateral kidney agenesis, hypertrophic heart. Het for ROBO2 NM_002942.4: c.2005C>G, p.Arg669Gly, as well as a SLIT2 variant c.1022C>T, p.Pro341Leu - variants not in gnomAD. SLIT2 variants have also been reported in association with CAKUT (e.g., PMID: 26026792 Hwang et al., 2015) - cannot decouple the effect. PMID: 27002985 Mitsioni et al., 2016 103 Greek children with nonsyndromic VUR or VUR-RHD (+ 200 controls) were screened for ROBO2 variants. ROBO2 variants were not found to be associated with nonsyndromic VUR or VUR-RHD in this cohort. PMID: 24429398 Hwang et al., 2014 Cohort of 749 individuals from 650 different families with CAKUT, mostly from Eastern Europe (63%). 4 families had variants in ROBO2 - 2 of Indian origin, and 2 Eastern European. 4 unique ROBO2 missense variants were detected. Specific diagnoses of the 4 probands included Multicystic dysplastic kidney, Posterior urethral valves, Vesicoureteral reflux, and Ureteropelvic junction obstruction. PMID: 23536131 Dobson et al., 2013 'Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux'. Sequenced 227 index cases with primary VUR in an Irish population and found ROBO2 55 variants, of which 20 were novel. Only p.Pro522Thr and p.Val799Ile segregated with the disorder. Authors pose ROBO2 variants are more likely to act as modifiers, causing VUR with digenic or oligogenic inheritance. PMID: 17357069 - Lu et al., 2007 Report of a man with a de novo translocation, 46,X,t(Y;3)(p11;p12)dn, who exhibits multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. This translocation disrupts ROBO2. FUNCTIONAL EVIDENCE: Adult heterozygous and mosaic mutant mice with reduced Robo2 gene dosage exhibit striking CAKUT-VUR phenotypes. Robo2del5/del5 homozygotes uniformly died shortly after birth with multiplex, dysplastic kidneys and short ureters. 4 (15%) of 26 Robo2del5/+ heterozygous newborns exhibited a unilateral CAKUT-VUR phenotype. With gene dosage reduced further, up to 40-70% of the heterozygous knock-down mice exhibited CAKUT-VUR. ROBO2 is associated with AD Vesicoureteral reflux 2, OMIM:610878 (OMIM accessed 17th Aug 2026). ROBO2 is also Green on Congenital anomalies of the kidney and urinary tract (CAKUT) in PanelApp Australia (accessed 17th Aug 2026). |
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| Unexplained young onset end-stage renal disease - additional genes v2.6 | ROBO2 |
Ida Ertmanska changed review comment from: PMID: 34059960 Liu et al., 2021 Study of 379 unrelated Chinese patients with Primary vesicoureteral reflux. Patient 372 - male, 7yo, no extra-renal phenotype; het for ROBO2: 2381C>T, p.Ala794Val (not in gnomAD 4.1.1) Patient 373 - male, 7yo, no extra-renal phenotype; het for ROBO2: 3230C>G, p.Pro1077Arg (only 1 allele reported in gnomAD v4.1.1) Both classified VUS in the paper according to ACMG criteria. PMID: 32041992 Darlow et al., 2020 Irish vesicoureteric reflux patients - 251 families screened for ROBO2 variants. Non-coding variant in CpG island of ROBO2a was present in the VUR cases in one family, that was not present in 592 healthy Irish controls. Potential disease mechanism could be altered methylation of ROBO2. PMID: 29194579 Rasmussen et al., 2018 Fetus 43 - affected by bilateral kidney agenesis, hypertrophic heart. Het for ROBO2 NM_002942.4: c.2005C>G, p.Arg669Gly, as well as a SLIT2 variant c.1022C>T, p.Pro341Leu - variants not in gnomAD. SLIT2 variants have also been reported in association with CAKUT (e.g., PMID: 26026792 Hwang et al., 2015) - cannot decouple the effect. PMID: 27002985 Mitsioni et al., 2016 103 Greek children with nonsyndromic VUR or VUR-RHD (+ 200 controls) were screened for ROBO2 variants. ROBO2 variants were NOT found to be associated with nonsyndromic VUR or VUR-RHD. ROBO2 is associated with AD Vesicoureteral reflux 2, OMIM:610878 (OMIM accessed 17th Aug 2026).; to: PMID: 34059960 Liu et al., 2021 Study of 379 unrelated Chinese patients with Primary vesicoureteral reflux. Patient 372 - male, 7yo, no extra-renal phenotype; het for ROBO2: 2381C>T, p.Ala794Val (not in gnomAD 4.1.1) Patient 373 - male, 7yo, no extra-renal phenotype; het for ROBO2: 3230C>G, p.Pro1077Arg (only 1 allele reported in gnomAD v4.1.1) Both classified VUS in the paper according to ACMG criteria. PMID: 32041992 Darlow et al., 2020 Irish vesicoureteric reflux patients - 251 families screened for ROBO2 variants. Non-coding variant in CpG island of ROBO2a was present in the VUR cases in one family, that was not present in 592 healthy Irish controls. Potential disease mechanism could be altered methylation of ROBO2. PMID: 29194579 Rasmussen et al., 2018 Fetus 43 - affected by bilateral kidney agenesis, hypertrophic heart. Het for ROBO2 NM_002942.4: c.2005C>G, p.Arg669Gly, as well as a SLIT2 variant c.1022C>T, p.Pro341Leu - variants not in gnomAD. SLIT2 variants have also been reported in association with CAKUT (e.g., PMID: 26026792 Hwang et al., 2015) - cannot decouple the effect. PMID: 27002985 Mitsioni et al., 2016 103 Greek children with nonsyndromic VUR or VUR-RHD (+ 200 controls) were screened for ROBO2 variants. ROBO2 variants were NOT found to be associated with nonsyndromic VUR or VUR-RHD. PMID: 24429398 Hwang et al., 2014 Cohort of 749 individuals from 650 different families with CAKUT, mostly from Eastern Europe (63%). 4 families had variants in ROBO2 - 2 of Indian origin, and 2 Eastern European. 4 unique ROBO2 missense variants were detected. Specific diagnoses of the 4 probands included Multicystic dysplastic kidney, Posterior urethral valves, Vesicoureteral reflux, and Ureteropelvic junction obstruction. ROBO2 is associated with AD Vesicoureteral reflux 2, OMIM:610878 (OMIM accessed 17th Aug 2026). |
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| Unexplained young onset end-stage renal disease - additional genes v2.6 | ROBO2 | Ida Ertmanska Added comment: Comment on list classification: While there are more than 3 cases reported in literature with ROBO2 variants and vesicoureteral reflux, the evidence for this gene-disease association is limited and sometimes conflicting. Hence, this gene should remain Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v2.5 | ROBO2 | Ida Ertmanska Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, OMIM:610878 to Vesicoureteral reflux 2, OMIM:610878; vesicoureteral reflux 2, MONDO:0012573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v2.2 | ROBO2 |
Ida Ertmanska changed review comment from: PMID: 34059960 Liu et al., 2021 Study of 379 unrelated Chinese patients with Primary vesicoureteral reflux. Patient 372 - male, 7yo, no extra-renal phenotype; het for ROBO2: 2381C>T, p.Ala794Val (not in gnomAD 4.1.1) Patient 373 - male, 7yo, no extra-renal phenotype; het for ROBO2: 3230C>G, p.Pro1077Arg (only 1 allele reported in gnomAD v4.1.1) Both classified VUS in the paper according to ACMG criteria. PMID: 32041992 Darlow et al., 2020 Irish vesicoureteric reflux patients - 251 families screened for ROBO2 variants. Non-coding variant in CpG island of ROBO2a was present in the VUR cases in one family, that was not present in 592 healthy Irish controls. Potential disease mechanism could be altered methylation of ROBO2. PMID: 29194579 Rasmussen et al., 2018 Fetus 43 - affected by bilateral kidney agenesis, hypertrophic heart. Het for ROBO2 NM_002942.4: c.2005C>G, p.Arg669Gly, as well as a SLIT2 variant c.1022C>T, p.Pro341Leu - variants not in gnomAD. SLIT2 variants have also been reported in association with CAKUT (e.g., PMID: 26026792 Hwang et al., 2015) - cannot decouple the effect. ROBO2 is associated with AD Vesicoureteral reflux 2, OMIM:610878 (OMIM accessed 17th Aug 2026).; to: PMID: 34059960 Liu et al., 2021 Study of 379 unrelated Chinese patients with Primary vesicoureteral reflux. Patient 372 - male, 7yo, no extra-renal phenotype; het for ROBO2: 2381C>T, p.Ala794Val (not in gnomAD 4.1.1) Patient 373 - male, 7yo, no extra-renal phenotype; het for ROBO2: 3230C>G, p.Pro1077Arg (only 1 allele reported in gnomAD v4.1.1) Both classified VUS in the paper according to ACMG criteria. PMID: 32041992 Darlow et al., 2020 Irish vesicoureteric reflux patients - 251 families screened for ROBO2 variants. Non-coding variant in CpG island of ROBO2a was present in the VUR cases in one family, that was not present in 592 healthy Irish controls. Potential disease mechanism could be altered methylation of ROBO2. PMID: 29194579 Rasmussen et al., 2018 Fetus 43 - affected by bilateral kidney agenesis, hypertrophic heart. Het for ROBO2 NM_002942.4: c.2005C>G, p.Arg669Gly, as well as a SLIT2 variant c.1022C>T, p.Pro341Leu - variants not in gnomAD. SLIT2 variants have also been reported in association with CAKUT (e.g., PMID: 26026792 Hwang et al., 2015) - cannot decouple the effect. PMID: 27002985 Mitsioni et al., 2016 103 Greek children with nonsyndromic VUR or VUR-RHD (+ 200 controls) were screened for ROBO2 variants. ROBO2 variants were NOT found to be associated with nonsyndromic VUR or VUR-RHD. ROBO2 is associated with AD Vesicoureteral reflux 2, OMIM:610878 (OMIM accessed 17th Aug 2026). |
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| Unexplained young onset end-stage renal disease - additional genes v2.2 | ROBO2 | Ida Ertmanska reviewed gene: ROBO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29194579, 32041992, 34059960; Phenotypes: Vesicoureteral reflux 2, OMIM:610878, vesicoureteral reflux 2, MONDO:0012573; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.122 | SOX17 | Achchuthan Shanmugasundram Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3, 613674 to Vesicoureteral reflux 3, OMIM:613674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.120 | ROBO2 | Achchuthan Shanmugasundram Phenotypes for gene: ROBO2 were changed from Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux to Vesicoureteral reflux 2, OMIM:610878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.101 | RET | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.101 | RET | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: 191830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.101 | RET | Achchuthan Shanmugasundram Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 to {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Multiple endocrine neoplasia IIA, OMIM:171400; Multiple endocrine neoplasia IIB, OMIM:162300; Pheochromocytoma, OMIM:171300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.94 | ISCA-37401-Loss | Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.81 | DSTYK | Achchuthan Shanmugasundram Phenotypes for gene: DSTYK were changed from vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} to Congenital anomalies of kidney and urinary tract 1, OMIM:610805 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.76 | BNC2 | Achchuthan Shanmugasundram Phenotypes for gene: BNC2 were changed from Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV to Lower urinary tract obstruction, congenital, OMIM:618612 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | SOX17 | Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | ROBO2 | Achchuthan Shanmugasundram Added phenotypes Vesicoureteral reflux 2, 610878; Vesicoureteral Reflux for gene: ROBO2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | RET | Achchuthan Shanmugasundram Added phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 for gene: RET | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | DSTYK | Achchuthan Shanmugasundram Added phenotypes vesicoureteric reflux; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to} for gene: DSTYK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.68 | BNC2 | Achchuthan Shanmugasundram Added phenotypes Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612; Posterior urethral valves; PUV for gene: BNC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.65 | RET | Achchuthan Shanmugasundram edited their review of gene: RET: Added comment: This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.59 | ROBO2 |
Achchuthan Shanmugasundram gene: ROBO2 was added gene: ROBO2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878 |
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| Unexplained young onset end-stage renal disease - additional genes v0.58 | RET | Achchuthan Shanmugasundram Entity copied from Unexplained young onset end-stage renal disease v5.32 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease - additional genes v0.58 | RET |
Achchuthan Shanmugasundram gene: RET was added gene: RET was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIA, 171400; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Pheochromocytoma, 171300; Renal Adysplasia; Medullary thyroid carcinoma, 155240 |
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| Unexplained young onset end-stage renal disease - additional genes v0.46 | DSTYK |
Achchuthan Shanmugasundram gene: DSTYK was added gene: DSTYK was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux |
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| Unexplained young onset end-stage renal disease - additional genes v0.31 | SOX17 |
Achchuthan Shanmugasundram gene: SOX17 was added gene: SOX17 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Red Mode of inheritance for gene: SOX17 was set to Unknown Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674 |
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| Unexplained young onset end-stage renal disease - additional genes v0.22 | ISCA-37401-Loss |
Achchuthan Shanmugasundram Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome |
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| Unexplained young onset end-stage renal disease - additional genes v0.8 | BNC2 |
Achchuthan Shanmugasundram gene: BNC2 was added gene: BNC2 was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,Other Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BNC2 were set to 31051115 Phenotypes for gene: BNC2 were set to Posterior urethral valves; PUV; Congenital lower urinary-tract obstruction; Lower urinary tract obstruction, congenital, 618612 Mode of pathogenicity for gene: BNC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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