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Groopman et al 2019 - Genes with diagnostic variants v0.6 Eleanor Williams Panel status changed from internal to public
Groopman et al 2019 - Genes with diagnostic variants v0.4 WT1 Eleanor Williams reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 WDR19 Eleanor Williams reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 UMOD Eleanor Williams reviewed gene: UMOD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 TSC2 Eleanor Williams reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 TRPC6 Eleanor Williams reviewed gene: TRPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SMC1A Eleanor Williams reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SMARCAL1 Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC7A9 Eleanor Williams reviewed gene: SLC7A9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC4A1 Eleanor Williams reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC3A1 Eleanor Williams reviewed gene: SLC3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC34A3 Eleanor Williams reviewed gene: SLC34A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC26A1 Eleanor Williams reviewed gene: SLC26A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC16A12 Eleanor Williams reviewed gene: SLC16A12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SLC12A3 Eleanor Williams reviewed gene: SLC12A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SEC61A1 Eleanor Williams reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 SALL1 Eleanor Williams reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 ROBO2 Eleanor Williams reviewed gene: ROBO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 RERE Eleanor Williams reviewed gene: RERE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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 v0.4 PTPN11 Eleanor Williams reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 PLCE1 Eleanor Williams reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 PKHD1 Eleanor Williams reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 PKD2 Eleanor Williams reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 PKD1 Eleanor Williams reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 PAX2 Eleanor Williams reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 OCRL Eleanor Williams reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 NPHS1 Eleanor Williams reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 NPHP3 Eleanor Williams reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 NF1 Eleanor Williams reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 MYH9 Eleanor Williams reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 MYCN Eleanor Williams reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 MKKS Eleanor Williams reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 MC4R Eleanor Williams reviewed gene: MC4R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 LRIG2 Eleanor Williams reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 LMX1B Eleanor Williams reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 KRAS Eleanor Williams reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 KLHL3 Eleanor Williams reviewed gene: KLHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 KANSL1 Eleanor Williams reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 ANOS1 Eleanor Williams reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 JAG1 Eleanor Williams reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 IQCB1 Eleanor Williams reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 INF2 Eleanor Williams reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 HNF4A Eleanor Williams reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 HNF1B Eleanor Williams reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 HNF1A Eleanor Williams reviewed gene: HNF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 HBB Eleanor Williams reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 GLA Eleanor Williams reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 FGFR2 Eleanor Williams reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 FANCB Eleanor Williams reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 EYA1 Eleanor Williams reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 DHCR7 Eleanor Williams reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 CREBBP Eleanor Williams reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 CRB2 Eleanor Williams reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 COL4A5 Eleanor Williams reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 COL4A4 Eleanor Williams reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 COL4A3 Eleanor Williams reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 CDKN1C Eleanor Williams reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 AVP Eleanor Williams reviewed gene: AVP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 ATP6V1B1 Eleanor Williams reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 APOA1 Eleanor Williams reviewed gene: APOA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.4 ACTG2 Eleanor Williams reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 WT1 Eleanor Williams Source Expert Review Red was added to WT1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 WDR19 Eleanor Williams Source Expert Review Red was added to WDR19.
Groopman et al 2019 - Genes with diagnostic variants v0.3 UMOD Eleanor Williams Source Expert Review Green was added to UMOD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 TTC21B Eleanor Williams Source Expert Review Red was added to TTC21B.
Groopman et al 2019 - Genes with diagnostic variants v0.3 TSC2 Eleanor Williams Source Expert Review Red was added to TSC2.
Groopman et al 2019 - Genes with diagnostic variants v0.3 TRPC6 Eleanor Williams Source Expert Review Green was added to TRPC6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 SMC1A Eleanor Williams Source Expert Review Red was added to SMC1A.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SMARCAL1 Eleanor Williams Source Expert Review Red was added to SMARCAL1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC7A9 Eleanor Williams Source Expert Review Red was added to SLC7A9.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC4A1 Eleanor Williams Source Expert Review Red was added to SLC4A1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC3A1 Eleanor Williams Source Expert Review Amber was added to SLC3A1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC34A3 Eleanor Williams Source Expert Review Red was added to SLC34A3.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC26A1 Eleanor Williams Source Expert Review Red was added to SLC26A1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC16A12 Eleanor Williams Source Expert Review Red was added to SLC16A12.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SLC12A3 Eleanor Williams Source Expert Review Green was added to SLC12A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 SEC61A1 Eleanor Williams Source Expert Review Red was added to SEC61A1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 SALL1 Eleanor Williams Source Expert Review Red was added to SALL1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 ROBO2 Eleanor Williams Source Expert Review Red was added to ROBO2.
Groopman et al 2019 - Genes with diagnostic variants v0.3 RERE Eleanor Williams Source Expert Review Red was added to RERE.
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 v0.3 PTPN11 Eleanor Williams Source Expert Review Amber was added to PTPN11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 PLCE1 Eleanor Williams Source Expert Review Red was added to PLCE1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 PKHD1 Eleanor Williams Source Expert Review Green was added to PKHD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 PKD2 Eleanor Williams Source Expert Review Green was added to PKD2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 PKD1 Eleanor Williams Source Expert Review Green was added to PKD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 PAX2 Eleanor Williams Source Expert Review Green was added to PAX2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 OCRL Eleanor Williams Source Expert Review Red was added to OCRL.
Groopman et al 2019 - Genes with diagnostic variants v0.3 NPHS2 Eleanor Williams Source Expert Review Green was added to NPHS2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 NPHS1 Eleanor Williams Source Expert Review Amber was added to NPHS1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 NPHP4 Eleanor Williams Source Expert Review Green was added to NPHP4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 NPHP3 Eleanor Williams Source Expert Review Green was added to NPHP3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 NF1 Eleanor Williams Source Expert Review Amber was added to NF1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 MYH9 Eleanor Williams Source Expert Review Red was added to MYH9.
Groopman et al 2019 - Genes with diagnostic variants v0.3 MYCN Eleanor Williams Source Expert Review Red was added to MYCN.
Groopman et al 2019 - Genes with diagnostic variants v0.3 MKKS Eleanor Williams Source Expert Review Red was added to MKKS.
Groopman et al 2019 - Genes with diagnostic variants v0.3 MC4R Eleanor Williams Source Expert Review Red was added to MC4R.
Groopman et al 2019 - Genes with diagnostic variants v0.3 LRIG2 Eleanor Williams Source Expert Review Red was added to LRIG2.
Groopman et al 2019 - Genes with diagnostic variants v0.3 LMX1B Eleanor Williams Source Expert Review Red was added to LMX1B.
Groopman et al 2019 - Genes with diagnostic variants v0.3 KRAS Eleanor Williams Source Expert Review Red was added to KRAS.
Groopman et al 2019 - Genes with diagnostic variants v0.3 KLHL3 Eleanor Williams Source Expert Review Red was added to KLHL3.
Groopman et al 2019 - Genes with diagnostic variants v0.3 KANSL1 Eleanor Williams Source Expert Review Red was added to KANSL1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 ANOS1 Eleanor Williams Source Expert Review Red was added to ANOS1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 JAG1 Eleanor Williams Source Expert Review Red was added to JAG1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 IQCB1 Eleanor Williams Source Expert Review Red was added to IQCB1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 INF2 Eleanor Williams Source Expert Review Green was added to INF2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 HNF4A Eleanor Williams Source Expert Review Red was added to HNF4A.
Groopman et al 2019 - Genes with diagnostic variants v0.3 HNF1B Eleanor Williams Source Expert Review Red was added to HNF1B.
Groopman et al 2019 - Genes with diagnostic variants v0.3 HNF1A Eleanor Williams Source Expert Review Green was added to HNF1A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 HBB Eleanor Williams Source Expert Review Green was added to HBB.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 GLA Eleanor Williams Source Expert Review Green was added to GLA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 FGFR2 Eleanor Williams Source Expert Review Red was added to FGFR2.
Groopman et al 2019 - Genes with diagnostic variants v0.3 FANCB Eleanor Williams Source Expert Review Red was added to FANCB.
Groopman et al 2019 - Genes with diagnostic variants v0.3 EYA1 Eleanor Williams Source Expert Review Green was added to EYA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 DHCR7 Eleanor Williams Source Expert Review Green was added to DHCR7.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 CREBBP Eleanor Williams Source Expert Review Green was added to CREBBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 CRB2 Eleanor Williams Source Expert Review Amber was added to CRB2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 COL4A5 Eleanor Williams Source Expert Review Green was added to COL4A5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 COL4A4 Eleanor Williams Source Expert Review Green was added to COL4A4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 COL4A3 Eleanor Williams Source Expert Review Green was added to COL4A3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 COL11A1 Eleanor Williams Source Expert Review Red was added to COL11A1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 CLCN5 Eleanor Williams Source Expert Review Green was added to CLCN5.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 CDKN1C Eleanor Williams Source Expert Review Red was added to CDKN1C.
Groopman et al 2019 - Genes with diagnostic variants v0.3 AVP Eleanor Williams Source Expert Review Amber was added to AVP.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.3 ATP6V1B1 Eleanor Williams Source Expert Review Red was added to ATP6V1B1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 APOA1 Eleanor Williams Source Expert Review Red was added to APOA1.
Groopman et al 2019 - Genes with diagnostic variants v0.3 ACTG2 Eleanor Williams Source Expert Review Red was added to ACTG2.
Groopman et al 2019 - Genes with diagnostic variants v0.2 WT1 Eleanor Williams gene: WT1 was added
gene: WT1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to MIM 256370; Nephrotic syndrome type 4; Glomerulopathy
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephropathy of unknown origin; Nephronophthisis 12; MIM 613820
Groopman et al 2019 - Genes with diagnostic variants v0.2 TSC2 Eleanor Williams gene: TSC2 was added
gene: TSC2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Other; MIM 613254; Tuberous sclerosis 2
Groopman et al 2019 - Genes with diagnostic variants v0.2 TRPC6 Eleanor Williams gene: TRPC6 was added
gene: TRPC6 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: TRPC6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TRPC6 were set to MIM 603965; Nephropathy of unknown origin; Glomerulopathy; Glomerulosclerosis focal segmental 2
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 SMARCAL1 Eleanor Williams gene: SMARCAL1 was added
gene: SMARCAL1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: SMARCAL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to MIM 242900; Schimke immunoosseous dysplasia; Glomerulopathy
Groopman et al 2019 - Genes with diagnostic variants v0.2 SLC7A9 Eleanor Williams gene: SLC7A9 was added
gene: SLC7A9 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: SLC7A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC7A9 were set to Tubulointerstitial disease; Cystinuria; MIM 220100
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 SLC34A3 Eleanor Williams gene: SLC34A3 was added
gene: SLC34A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to MIM 241530; Nephropathy of unknown origin; Hypophosphatemic rickets with hypercalciuria
Groopman et al 2019 - Genes with diagnostic variants v0.2 SLC26A1 Eleanor Williams gene: SLC26A1 was added
gene: SLC26A1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: SLC26A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A1 were set to MIM 167030; Nephropathy of unknown origin; Nephrolithiasis calcium oxalate
Groopman et al 2019 - Genes with diagnostic variants v0.2 SLC16A12 Eleanor Williams gene: SLC16A12 was added
gene: SLC16A12 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC16A12 were set to Tubulointerstitial disease; MIM 612018; Cataract 47 juvenile with microcornea
Groopman et al 2019 - Genes with diagnostic variants v0.2 SLC12A3 Eleanor Williams gene: SLC12A3 was added
gene: SLC12A3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A3 were set to Tubulointerstitial disease; MIM 263800; Glomerulopathy; Gitelman syndrome
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 SALL1 Eleanor Williams gene: SALL1 was added
gene: SALL1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome 1; Glomerulopathy; MIM 107480
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
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 PTPN11 Eleanor Williams gene: PTPN11 was added
gene: PTPN11 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1; MIM 163950; Nephropathy of unknown origin; Diabetic nephropathy
Groopman et al 2019 - Genes with diagnostic variants v0.2 PLCE1 Eleanor Williams gene: PLCE1 was added
gene: PLCE1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to MIM 610725; Glomerulopathy; Nephrotic syndrome type 3
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
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
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 OCRL Eleanor Williams gene: OCRL was added
gene: OCRL was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: OCRL 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: OCRL were set to Nephropathy of unknown origin; MIM 300555; Dent disease 2
Groopman et al 2019 - Genes with diagnostic variants v0.2 NPHS2 Eleanor Williams gene: NPHS2 was added
gene: NPHS2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephropathy of unknown origin; Hypertensive nephropathy; Glomerulopathy; Nephrotic syndrome type 2; MIM 600995
Groopman et al 2019 - Genes with diagnostic variants v0.2 NPHS1 Eleanor Williams gene: NPHS1 was added
gene: NPHS1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to MIM 256300; Nephrotic syndrome type 1; Glomerulopathy
Groopman et al 2019 - Genes with diagnostic variants v0.2 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Nephropathy of unknown origin; MIM 606966; Nephronophthisis 4
Groopman et al 2019 - Genes with diagnostic variants v0.2 NPHP3 Eleanor Williams gene: NPHP3 was added
gene: NPHP3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to MIM 604387; Nephronophthisis 3; Nephropathy of unknown origin; Glomerulopathy
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 MYH9 Eleanor Williams gene: MYH9 was added
gene: MYH9 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH9 were set to Fechtner syndrome; Epstein syndrome; Nephropathy of unknown origin; 153640; MIM 153650
Groopman et al 2019 - Genes with diagnostic variants v0.2 MYCN Eleanor Williams gene: MYCN was added
gene: MYCN was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYCN were set to MIM 164280; Diabetic nephropathy; Feingold syndrome 1
Groopman et al 2019 - Genes with diagnostic variants v0.2 MKKS Eleanor Williams gene: MKKS was added
gene: MKKS was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to MIM 605231; Nephropathy of unknown origin; Bardet-Biedl syndrome 6
Groopman et al 2019 - Genes with diagnostic variants v0.2 MC4R Eleanor Williams gene: MC4R was added
gene: MC4R was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: MC4R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MC4R were set to Obesity autosomal dominant; Nephropathy of unknown origin; MIM 601665
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 LMX1B Eleanor Williams gene: LMX1B was added
gene: LMX1B was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LMX1B were set to Nail-patella syndrome; MIM 161200; Glomerulopathy
Groopman et al 2019 - Genes with diagnostic variants v0.2 KRAS Eleanor Williams gene: KRAS was added
gene: KRAS was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to MIM 609942; Glomerulopathy; Noonan syndrome 3
Groopman et al 2019 - Genes with diagnostic variants v0.2 KLHL3 Eleanor Williams gene: KLHL3 was added
gene: KLHL3 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: KLHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KLHL3 were set to Other; MIM 614495; Pseudohypoaldosteronism type IID
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 ANOS1 Eleanor Williams gene: ANOS1 was added
gene: ANOS1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: ANOS1 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: ANOS1 were set to MIM 308700; Glomerulopathy; Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 INF2 Eleanor Williams gene: INF2 was added
gene: INF2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: INF2 were set to Glomerulosclerosis focal segmental 5; Nephropathy of unknown origin; Hypertensive nephropathy; Glomerulopathy; MIM 613237
Groopman et al 2019 - Genes with diagnostic variants v0.2 HNF4A Eleanor Williams gene: HNF4A was added
gene: HNF4A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF4A were set to MODY type I; Nephropathy of unknown origin; MIM 125850
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 HNF1A Eleanor Williams gene: HNF1A was added
gene: HNF1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HNF1A were set to MODY type III; Nephropathy of unknown origin; Diabetic nephropathy; MIM 600496
Groopman et al 2019 - Genes with diagnostic variants v0.2 HBB Eleanor Williams gene: HBB was added
gene: HBB was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Other; Nephropathy of unknown origin; Sickle cell disease; MIM 603903
Groopman et al 2019 - Genes with diagnostic variants v0.2 GLA Eleanor Williams gene: GLA was added
gene: GLA was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: GLA 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: GLA were set to Tubulointerstitial disease; Other; Fabry disease; MIM 301500
Groopman et al 2019 - Genes with diagnostic variants v0.2 FGFR2 Eleanor Williams gene: FGFR2 was added
gene: FGFR2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR2 were set to Nephropathy of unknown origin; MIM 101600; Pfeiffer syndrome
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
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
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 CRB2 Eleanor Williams gene: CRB2 was added
gene: CRB2 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to Focal segmental glomerulosclerosis 9; Glomerulopathy; MIM 616220
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
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
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.2 CLCN5 Eleanor Williams gene: CLCN5 was added
gene: CLCN5 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review green
Mode of inheritance for gene: CLCN5 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: CLCN5 were set to Tubulointerstitial disease; Dent disease; Nephropathy of unknown origin; Glomerulopathy; MIM 300009
Groopman et al 2019 - Genes with diagnostic variants v0.2 CDKN1C Eleanor Williams gene: CDKN1C was added
gene: CDKN1C was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome; MIM 130650; Glomerulopathy
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
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
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
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
Groopman et al 2019 - Genes with diagnostic variants v0.0 Eleanor Williams Added Panel Groopman et al 2019 - Genes with diagnostic variants
Set panel types to: Submitted List