Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |