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| Groopman et al 2019 - Genes with diagnostic variants v0.4 | REN | Eleanor Williams reviewed gene: REN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.3 | REN | Eleanor Williams Source Expert Review Red was added to REN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Groopman et al 2019 - Genes with diagnostic variants v0.2 | WDR19 |
Eleanor Williams gene: WDR19 was added gene: WDR19 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Congenital or cystic renal disease; MIM 614377; Nephronophthisis 13 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | UMOD |
Eleanor Williams gene: UMOD was added gene: UMOD was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: UMOD were set to Tubulointerstitial disease; Hypertensive nephropathy; 162000; Congenital or cystic renal disease; 603860; Nephropathy of unknown origin; Autosomal dominant tubulointerstitial kidney disease, UMOD-associated; Glomerulopathy; MIM 609886 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SMC1A |
Eleanor Williams gene: SMC1A was added gene: SMC1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Congenital or cystic renal disease; MIM 300590; Cornelia de Lange syndrome 2 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SLC4A1 |
Eleanor Williams gene: SLC4A1 was added gene: SLC4A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SLC4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SLC4A1 were set to Tubulointerstitial disease; Renal tubular acidosis distal, autosomal dominant; MIM 179800 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SLC3A1 |
Eleanor Williams gene: SLC3A1 was added gene: SLC3A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC3A1 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Hypertensive nephropathy; Cystinuria; MIM 220100 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | SEC61A1 |
Eleanor Williams gene: SEC61A1 was added gene: SEC61A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEC61A1 were set to Congenital or cystic renal disease; MIM 617056; Hyperuricemic nephropathy familial juvenile 4 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | ROBO2 |
Eleanor Williams gene: ROBO2 was added gene: ROBO2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,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 Congenital or cystic renal disease; Vesicoureteral reflux 2; MIM 610878 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | RERE |
Eleanor Williams gene: RERE was added gene: RERE was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RERE were set to Congenital or cystic renal disease; MIM 616975; Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | REN |
Eleanor Williams gene: REN was added gene: REN was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: REN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: REN were set to Tubulointerstitial disease; MIM 613092; Autosomal dominant tubulointerstitial kidney disease, REN-associated |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | PKHD1 |
Eleanor Williams gene: PKHD1 was added gene: PKHD1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney disease, autosomal recessive; Congenital or cystic renal disease; Nephropathy of unknown origin; MIM 263200 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | PKD2 |
Eleanor Williams gene: PKD2 was added gene: PKD2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2; Congenital or cystic renal disease; MIM 613095 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | PKD1 |
Eleanor Williams gene: PKD1 was added gene: PKD1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PKD1 were set to Congenital or cystic renal disease; Nephropathy of unknown origin; Polycystic kidney disease 1; MIM 173900 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | PAX2 |
Eleanor Williams gene: PAX2 was added gene: PAX2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX2 were set to MIM 616002; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulosclerosis focal segmental 7; Glomerulopathy; Papillorenal syndrome; 120330 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | NF1 |
Eleanor Williams gene: NF1 was added gene: NF1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NF1 were set to Congenital or cystic renal disease; MIM 162200; Neurofibromatosis type 1 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | LRIG2 |
Eleanor Williams gene: LRIG2 was added gene: LRIG2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRIG2 were set to Congenital or cystic renal disease; MIM 615112; Urofacial syndrome 2 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | KANSL1 |
Eleanor Williams gene: KANSL1 was added gene: KANSL1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome; Congenital or cystic renal disease; MIM 610443 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | JAG1 |
Eleanor Williams gene: JAG1 was added gene: JAG1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: JAG1 were set to Congenital or cystic renal disease; Alagille syndrome 1; MIM 118450 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | IQCB1 |
Eleanor Williams gene: IQCB1 was added gene: IQCB1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Congenital or cystic renal disease; MIM 609254; Senior-Loken syndrome 5 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | HNF1B |
Eleanor Williams gene: HNF1B was added gene: HNF1B was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HNF1B were set to Congenital or cystic renal disease; MIM 137920; Renal cysts and diabetes syndrome |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | FANCB |
Eleanor Williams gene: FANCB was added gene: FANCB was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FANCB were set to Congenital or cystic renal disease; Fanconi anemia complementation group B; MIM 300514 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | EYA1 |
Eleanor Williams gene: EYA1 was added gene: EYA1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EYA1 were set to Congenital or cystic renal disease; MIM 113650; Branchiootorenal syndrome 1 with or without cataracts |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | DHCR7 |
Eleanor Williams gene: DHCR7 was added gene: DHCR7 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Tubulointerstitial disease; Congenital or cystic renal disease; Nephropathy of unknown origin; MIM 270400; Smith-Lemli-Opitz syndrome |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | CREBBP |
Eleanor Williams gene: CREBBP was added gene: CREBBP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CREBBP were set to Congenital or cystic renal disease; Rubinstein-Taybi syndrome 1; Nephropathy of unknown origin; MIM 180849; Glomerulopathy |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | COL4A5 |
Eleanor Williams gene: COL4A5 was added gene: COL4A5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COL4A5 were set to MIM 301050; Congenital or cystic renal disease; Nephropathy of unknown origin; Alport syndrome, X-linked; Glomerulopathy |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | COL4A4 |
Eleanor Williams gene: COL4A4 was added gene: COL4A4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL4A4 were set to MIM 203780; Hypertensive nephropathy; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulopathy; Thin basement membrane disease; Alport syndrome, autosomal dominant/recessive; 141200 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | COL4A3 |
Eleanor Williams gene: COL4A3 was added gene: COL4A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL4A3 were set to Hypertensive nephropathy; MIM 104200, 203780; Congenital or cystic renal disease; Nephropathy of unknown origin; Glomerulopathy; Thin basement membrane disease; Alport syndrome, autosomal dominant/recessive; 141200 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | COL11A1 |
Eleanor Williams gene: COL11A1 was added gene: COL11A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL11A1 were set to Stickler syndrome type II; Congenital or cystic renal disease; MIM 604841 |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | AVP |
Eleanor Williams gene: AVP was added gene: AVP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AVP were set to MIM 125700; Congenital or cystic renal disease; Nephropathy of unknown origin; Diabetes insipidus, neurohypophyseal |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | ATP6V1B1 |
Eleanor Williams gene: ATP6V1B1 was added gene: ATP6V1B1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP6V1B1 were set to Tubulointerstitial disease; MIM 267300; Renal tubular acidosis with deafness |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | APOA1 |
Eleanor Williams gene: APOA1 was added gene: APOA1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: APOA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOA1 were set to MIM 105200; Amyloidosis, renal; Glomerulopathy |
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| Groopman et al 2019 - Genes with diagnostic variants v0.2 | ACTG2 |
Eleanor Williams gene: ACTG2 was added gene: ACTG2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ACTG2 were set to MIM 155310; Congenital or cystic renal disease; Visceral myopathy |
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