Activity
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| 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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