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DDG2P v0.2 SLC12A5 Rebecca Foulger reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SKIV2L Rebecca Foulger reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SKI Rebecca Foulger reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX6 Rebecca Foulger reviewed gene: SIX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX5 Rebecca Foulger reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX3 Rebecca Foulger reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIX1 Rebecca Foulger reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIN3A Rebecca Foulger reviewed gene: SIN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIL1 Rebecca Foulger reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SIK1 Rebecca Foulger reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHROOM3 Rebecca Foulger reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHOX Rebecca Foulger reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHOC2 Rebecca Foulger reviewed gene: SHOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHH Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHANK3 Rebecca Foulger reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHANK2 Rebecca Foulger reviewed gene: SHANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SHANK1 Rebecca Foulger reviewed gene: SHANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SH3PXD2B Rebecca Foulger reviewed gene: SH3PXD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SH3BP2 Rebecca Foulger reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SGSH Rebecca Foulger reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SF3B4 Rebecca Foulger reviewed gene: SF3B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETD5 Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETD2 Rebecca Foulger reviewed gene: SETD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETD1A Rebecca Foulger reviewed gene: SETD1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SETBP1 Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SET Rebecca Foulger reviewed gene: SET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SELENOI Rebecca Foulger reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SECISBP2 Rebecca Foulger reviewed gene: SECISBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC61A1 Rebecca Foulger reviewed gene: SEC61A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC24D Rebecca Foulger reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC23B Rebecca Foulger reviewed gene: SEC23B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SEC23A Rebecca Foulger reviewed gene: SEC23A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SDHAF1 Rebecca Foulger reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SDHA Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SDCCAG8 Rebecca Foulger reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCYL1 Rebecca Foulger reviewed gene: SCYL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCRIB Rebecca Foulger reviewed gene: SCRIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCO2 Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCO1 Rebecca Foulger reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN3A Rebecca Foulger reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN2A Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN1B Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCARF2 Rebecca Foulger reviewed gene: SCARF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SCAPER Rebecca Foulger reviewed gene: SCAPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SC5D Rebecca Foulger reviewed gene: SC5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SBDS Rebecca Foulger reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SATB2 Rebecca Foulger reviewed gene: SATB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SAMHD1 Rebecca Foulger reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SAMD9L Rebecca Foulger reviewed gene: SAMD9L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SALL4 Rebecca Foulger reviewed gene: SALL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SALL1 Rebecca Foulger reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 SACS Rebecca Foulger reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RYR3 Rebecca Foulger reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RYR1 Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RUNX2 Rebecca Foulger reviewed gene: RUNX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RUBCN Rebecca Foulger reviewed gene: RUBCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RTTN Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RTN4IP1 Rebecca Foulger reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RTEL1 Rebecca Foulger reviewed gene: RTEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPRY1 Rebecca Foulger reviewed gene: RSPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPO4 Rebecca Foulger reviewed gene: RSPO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPO2 Rebecca Foulger reviewed gene: RSPO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPH3 Rebecca Foulger reviewed gene: RSPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RSPH1 Rebecca Foulger reviewed gene: RSPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RRM2B Rebecca Foulger reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RRAS Rebecca Foulger reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPS6KA3 Rebecca Foulger reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPS23 Rebecca Foulger reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPS19 Rebecca Foulger reviewed gene: RPS19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPL11 Rebecca Foulger reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPGRIP1L Rebecca Foulger reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPGRIP1 Rebecca Foulger reviewed gene: RPGRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RPE65 Rebecca Foulger reviewed gene: RPE65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RORA Rebecca Foulger reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ROR2 Rebecca Foulger reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ROGDI Rebecca Foulger reviewed gene: ROGDI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ROBO3 Rebecca Foulger reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNU4ATAC Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNF168 Rebecca Foulger reviewed gene: RNF168: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNF135 Rebecca Foulger reviewed gene: RNF135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNF113A Rebecca Foulger reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASET2 Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASEH2C Rebecca Foulger reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASEH2B Rebecca Foulger reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RNASEH2A Rebecca Foulger reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RMRP Rebecca Foulger reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RMND1 Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RLIM Rebecca Foulger reviewed gene: RLIM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RIT1 Rebecca Foulger reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RIPK4 Rebecca Foulger reviewed gene: RIPK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RIN2 Rebecca Foulger reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RGS7 Rebecca Foulger reviewed gene: RGS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RFX6 Rebecca Foulger reviewed gene: RFX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RFT1 Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RETREG1 Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RET Rebecca Foulger reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RERE Rebecca Foulger reviewed gene: RERE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RELN Rebecca Foulger reviewed gene: RELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBPJ Rebecca Foulger reviewed gene: RBPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBM8A Rebecca Foulger reviewed gene: RBM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBM28 Rebecca Foulger reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RBM10 Rebecca Foulger reviewed gene: RBM10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAX Rebecca Foulger reviewed gene: RAX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RASA1 Rebecca Foulger reviewed gene: RASA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RARS2 Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RARB Rebecca Foulger reviewed gene: RARB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAPSN Rebecca Foulger reviewed gene: RAPSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RANBP2 Rebecca Foulger reviewed gene: RANBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RALGDS Rebecca Foulger reviewed gene: RALGDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAI1 Rebecca Foulger reviewed gene: RAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAF1 Rebecca Foulger reviewed gene: RAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD51C Rebecca Foulger reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD51 Rebecca Foulger reviewed gene: RAD51: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD50 Rebecca Foulger reviewed gene: RAD50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAD21 Rebecca Foulger reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAC1 Rebecca Foulger reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RABL6 Rebecca Foulger reviewed gene: RABL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB3GAP2 Rebecca Foulger reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB3GAP1 Rebecca Foulger reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB39B Rebecca Foulger reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB23 Rebecca Foulger reviewed gene: RAB23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB18 Rebecca Foulger reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB11B Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 RAB11A Rebecca Foulger reviewed gene: RAB11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QRICH1 Rebecca Foulger reviewed gene: QRICH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QKI Rebecca Foulger reviewed gene: QKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QDPR Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 QARS Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYROXD1 Rebecca Foulger reviewed gene: PYROXD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYGL Rebecca Foulger reviewed gene: PYGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYCR2 Rebecca Foulger reviewed gene: PYCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PYCR1 Rebecca Foulger reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PXDN Rebecca Foulger reviewed gene: PXDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PURA Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PUF60 Rebecca Foulger reviewed gene: PUF60: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTS Rebecca Foulger reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTPRF Rebecca Foulger reviewed gene: PTPRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTPN14 Rebecca Foulger reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTPN11 Rebecca Foulger reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTHLH Rebecca Foulger reviewed gene: PTHLH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTH1R Rebecca Foulger reviewed gene: PTH1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTH Rebecca Foulger reviewed gene: PTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTF1A Rebecca Foulger reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTDSS1 Rebecca Foulger reviewed gene: PTDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTCHD1 Rebecca Foulger reviewed gene: PTCHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PTCH1 Rebecca Foulger reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSPH Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSMD12 Rebecca Foulger reviewed gene: PSMD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSMB8 Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSAT1 Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PSAP Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRUNE1 Rebecca Foulger reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRSS56 Rebecca Foulger reviewed gene: PRSS56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRSS12 Rebecca Foulger reviewed gene: PRSS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRRX1 Rebecca Foulger reviewed gene: PRRX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRPS1 Rebecca Foulger reviewed gene: PRPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PROP1 Rebecca Foulger reviewed gene: PROP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRMT9 Rebecca Foulger reviewed gene: PRMT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRMT7 Rebecca Foulger reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRKD1 Rebecca Foulger reviewed gene: PRKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRKAR1A Rebecca Foulger reviewed gene: PRKAR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PREPL Rebecca Foulger reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRDM6 Rebecca Foulger reviewed gene: PRDM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PRDM12 Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PQBP1 Rebecca Foulger reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPT1 Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP3CA Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP2R5D Rebecca Foulger reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP2R1A Rebecca Foulger reviewed gene: PPP2R1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP1R15B Rebecca Foulger reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPP1CB Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPM1D Rebecca Foulger reviewed gene: PPM1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PPA2 Rebecca Foulger reviewed gene: PPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POU1F1 Rebecca Foulger reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POT1 Rebecca Foulger reviewed gene: POT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PORCN Rebecca Foulger reviewed gene: PORCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMT2 Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMT1 Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMP Rebecca Foulger reviewed gene: POMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMGNT2 Rebecca Foulger reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POMGNT1 Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR3B Rebecca Foulger reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR3A Rebecca Foulger reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR1D Rebecca Foulger reviewed gene: POLR1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR1C Rebecca Foulger reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLR1A Rebecca Foulger reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLG Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POLD1 Rebecca Foulger reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POGZ Rebecca Foulger reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POC1B Rebecca Foulger reviewed gene: POC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 POC1A Rebecca Foulger reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNPT1 Rebecca Foulger reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNPLA2 Rebecca Foulger reviewed gene: PNPLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNPLA1 Rebecca Foulger reviewed gene: PNPLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PNKP Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PMS2 Rebecca Foulger reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PMM2 Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLXND1 Rebecca Foulger reviewed gene: PLXND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLPBP Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLP1 Rebecca Foulger reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLOD3 Rebecca Foulger reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLOD2 Rebecca Foulger reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLOD1 Rebecca Foulger reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLK4 Rebecca Foulger reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLEC Rebecca Foulger reviewed gene: PLEC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCG2 Rebecca Foulger reviewed gene: PLCG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCE1 Rebecca Foulger reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCB4 Rebecca Foulger reviewed gene: PLCB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLCB1 Rebecca Foulger reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLAA Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PLA2G6 Rebecca Foulger reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PKHD1 Rebecca Foulger reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PKD1L1 Rebecca Foulger reviewed gene: PKD1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PITX3 Rebecca Foulger reviewed gene: PITX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PITX2 Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PITX1 Rebecca Foulger reviewed gene: PITX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIP5K1C Rebecca Foulger reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIK3R1 Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIH1D3 Rebecca Foulger reviewed gene: PIH1D3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGY Rebecca Foulger reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGW Rebecca Foulger reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGV Rebecca Foulger reviewed gene: PIGV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGT Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGQ Rebecca Foulger reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGO Rebecca Foulger reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGN Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGM Rebecca Foulger reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGL Rebecca Foulger reviewed gene: PIGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGG Rebecca Foulger reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIGA Rebecca Foulger reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIEZO2 Rebecca Foulger reviewed gene: PIEZO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PIEZO1 Rebecca Foulger reviewed gene: PIEZO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHOX2B Rebecca Foulger reviewed gene: PHOX2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHIP Rebecca Foulger reviewed gene: PHIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHGDH Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHF8 Rebecca Foulger reviewed gene: PHF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHF6 Rebecca Foulger reviewed gene: PHF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHF21A Rebecca Foulger reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PHC1 Rebecca Foulger reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGM3 Rebecca Foulger reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGM1 Rebecca Foulger reviewed gene: PGM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGK1 Rebecca Foulger reviewed gene: PGK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGAP3 Rebecca Foulger reviewed gene: PGAP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGAP2 Rebecca Foulger reviewed gene: PGAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PGAP1 Rebecca Foulger reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX6 Rebecca Foulger reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX5 Rebecca Foulger reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX3 Rebecca Foulger reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX26 Rebecca Foulger reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX2 Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX19 Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX16 Rebecca Foulger reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX14 Rebecca Foulger reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX13 Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX12 Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX11B Rebecca Foulger reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX10 Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEX1 Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PET100 Rebecca Foulger reviewed gene: PET100: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PEPD Rebecca Foulger reviewed gene: PEPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PECR Rebecca Foulger reviewed gene: PECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDSS2 Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDSS1 Rebecca Foulger reviewed gene: PDSS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDHX Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDHA1 Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDGFRB Rebecca Foulger reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE6H Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE6G Rebecca Foulger reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE4D Rebecca Foulger reviewed gene: PDE4D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PDCD10 Rebecca Foulger reviewed gene: PDCD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCYT1A Rebecca Foulger reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCNT Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCGF2 Rebecca Foulger reviewed gene: PCGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCDH19 Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCCB Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PCBD1 Rebecca Foulger reviewed gene: PCBD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PC Rebecca Foulger reviewed gene: PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX9 Rebecca Foulger reviewed gene: PAX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX8 Rebecca Foulger reviewed gene: PAX8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX6 Rebecca Foulger reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX3 Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAX2 Rebecca Foulger reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PARP1 Rebecca Foulger reviewed gene: PARP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PARN Rebecca Foulger reviewed gene: PARN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAPSS2 Rebecca Foulger reviewed gene: PAPSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PALB2 Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAK3 Rebecca Foulger reviewed gene: PAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAH Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PAFAH1B1 Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PACS2 Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 PACS1 Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 P4HB Rebecca Foulger reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 P3H1 Rebecca Foulger reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OXCT1 Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTX2 Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTULIN Rebecca Foulger reviewed gene: OTULIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTUD7A Rebecca Foulger reviewed gene: OTUD7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTUD6B Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTOGL Rebecca Foulger reviewed gene: OTOGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OTC Rebecca Foulger reviewed gene: OTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OSGEP Rebecca Foulger reviewed gene: OSGEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ORC6 Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ORC4 Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ORC1 Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OPHN1 Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OFD1 Rebecca Foulger reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OCRL Rebecca Foulger reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 OBSL1 Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NYX Rebecca Foulger reviewed gene: NYX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUS1 Rebecca Foulger reviewed gene: NUS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUP62 Rebecca Foulger reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUP107 Rebecca Foulger reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NUBPL Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NT5C3A Rebecca Foulger reviewed gene: NT5C3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSUN2 Rebecca Foulger reviewed gene: NSUN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSMCE3 Rebecca Foulger reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NSD1 Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRXN3 Rebecca Foulger reviewed gene: NRXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRXN2 Rebecca Foulger reviewed gene: NRXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRXN1 Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR5A1 Rebecca Foulger reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR2F2 Rebecca Foulger reviewed gene: NR2F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR2F1 Rebecca Foulger reviewed gene: NR2F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NR1I3 Rebecca Foulger reviewed gene: NR1I3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPR2 Rebecca Foulger reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHS2 Rebecca Foulger reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHS1 Rebecca Foulger reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHP4 Rebecca Foulger reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHP3 Rebecca Foulger reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPHP1 Rebecca Foulger reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPC2 Rebecca Foulger reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NPC1 Rebecca Foulger reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOVA2 Rebecca Foulger reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOTCH3 Rebecca Foulger reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOTCH2 Rebecca Foulger reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOTCH1 Rebecca Foulger reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOP10 Rebecca Foulger reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NONO Rebecca Foulger reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NOG Rebecca Foulger reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NODAL Rebecca Foulger reviewed gene: NODAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NMNAT1 Rebecca Foulger reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NLRP5 Rebecca Foulger reviewed gene: NLRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NLGN4X Rebecca Foulger reviewed gene: NLGN4X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NLGN3 Rebecca Foulger reviewed gene: NLGN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX6-2 Rebecca Foulger reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX3-2 Rebecca Foulger reviewed gene: NKX3-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX2-5 Rebecca Foulger reviewed gene: NKX2-5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NIPBL Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NHS Rebecca Foulger reviewed gene: NHS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NHP2 Rebecca Foulger reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NGLY1 Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NFU1 Rebecca Foulger reviewed gene: NFU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NFIX Rebecca Foulger reviewed gene: NFIX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NFIA Rebecca Foulger reviewed gene: NFIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NF1 Rebecca Foulger reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEXMIF Rebecca Foulger reviewed gene: NEXMIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEU1 Rebecca Foulger reviewed gene: NEU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEK8 Rebecca Foulger reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEK1 Rebecca Foulger reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEDD4L Rebecca Foulger reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NECTIN4 Rebecca Foulger reviewed gene: NECTIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NECTIN1 Rebecca Foulger reviewed gene: NECTIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NEB Rebecca Foulger reviewed gene: NEB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFV1 Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS8 Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS7 Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS4 Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFS1 Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFB11 Rebecca Foulger reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFAF2 Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFA9 Rebecca Foulger reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFA10 Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDUFA1 Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDST1 Rebecca Foulger reviewed gene: NDST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDP Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NDE1 Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NCAPH Rebecca Foulger reviewed gene: NCAPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NCAPD3 Rebecca Foulger reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NCAPD2 Rebecca Foulger reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NBN Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NBAS Rebecca Foulger reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAXE Rebecca Foulger reviewed gene: NAXE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NANS Rebecca Foulger reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NALCN Rebecca Foulger reviewed gene: NALCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAGS Rebecca Foulger reviewed gene: NAGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAGLU Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAGA Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NADK2 Rebecca Foulger reviewed gene: NADK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NACC1 Rebecca Foulger reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAA15 Rebecca Foulger reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 NAA10 Rebecca Foulger reviewed gene: NAA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYT1L Rebecca Foulger reviewed gene: MYT1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYT1 Rebecca Foulger reviewed gene: MYT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYPN Rebecca Foulger reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYOC Rebecca Foulger reviewed gene: MYOC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYO7A Rebecca Foulger reviewed gene: MYO7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYO5B Rebecca Foulger reviewed gene: MYO5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYO5A Rebecca Foulger reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYLK Rebecca Foulger reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYH9 Rebecca Foulger reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYH8 Rebecca Foulger reviewed gene: MYH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYH6 Rebecca Foulger reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYH3 Rebecca Foulger reviewed gene: MYH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYH11 Rebecca Foulger reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYH10 Rebecca Foulger reviewed gene: MYH10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MYCN Rebecca Foulger reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MUT Rebecca Foulger reviewed gene: MUT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MT-TP Rebecca Foulger reviewed gene: MT-TP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTRR Rebecca Foulger reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTR Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTO1 Rebecca Foulger reviewed gene: MTO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTMR14 Rebecca Foulger reviewed gene: MTMR14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTM1 Rebecca Foulger reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTHFR Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MTF1 Rebecca Foulger reviewed gene: MTF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MSX2 Rebecca Foulger reviewed gene: MSX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MSX1 Rebecca Foulger reviewed gene: MSX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MSL3 Rebecca Foulger reviewed gene: MSL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MSI1 Rebecca Foulger reviewed gene: MSI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MRPS34 Rebecca Foulger reviewed gene: MRPS34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MRPS22 Rebecca Foulger reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MRE11 Rebecca Foulger reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MPV17 Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MPLKIP Rebecca Foulger reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MPI Rebecca Foulger reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MPDZ Rebecca Foulger reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MPDU1 Rebecca Foulger reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MORC2 Rebecca Foulger reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MOGS Rebecca Foulger reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MOCS2 Rebecca Foulger reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MOCS1 Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MNX1 Rebecca Foulger reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMP21 Rebecca Foulger reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMP14 Rebecca Foulger reviewed gene: MMP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMP13 Rebecca Foulger reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMADHC Rebecca Foulger reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMACHC Rebecca Foulger reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMAB Rebecca Foulger reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MMAA Rebecca Foulger reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MLYCD Rebecca Foulger reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MLC1 Rebecca Foulger reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MKS1 Rebecca Foulger reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MKKS Rebecca Foulger reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MITF Rebecca Foulger reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MIR184 Rebecca Foulger reviewed gene: MIR184: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MIR17HG Rebecca Foulger reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MID1 Rebecca Foulger reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MICU1 Rebecca Foulger reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MGP Rebecca Foulger reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MGAT2 Rebecca Foulger reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MFSD8 Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MFSD2A Rebecca Foulger reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MFRP Rebecca Foulger reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MESP2 Rebecca Foulger reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MEOX1 Rebecca Foulger reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MEGF8 Rebecca Foulger reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MEGF10 Rebecca Foulger reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MEF2C Rebecca Foulger reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MED23 Rebecca Foulger reviewed gene: MED23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MED17 Rebecca Foulger reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MED13L Rebecca Foulger reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MED12 Rebecca Foulger reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MECR Rebecca Foulger reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MECP2 Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MECOM Rebecca Foulger reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MDH2 Rebecca Foulger reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MCPH1 Rebecca Foulger reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MCOLN1 Rebecca Foulger reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MCEE Rebecca Foulger reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MCCC2 Rebecca Foulger reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MCCC1 Rebecca Foulger reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MC2R Rebecca Foulger reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MBOAT7 Rebecca Foulger reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MBD5 Rebecca Foulger reviewed gene: MBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MATN3 Rebecca Foulger reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAT1A Rebecca Foulger reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MASP1 Rebecca Foulger reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAPRE2 Rebecca Foulger reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAPK10 Rebecca Foulger reviewed gene: MAPK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAP3K7 Rebecca Foulger reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAP3K1 Rebecca Foulger reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAOA Rebecca Foulger reviewed gene: MAOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MANBA Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAN2B1 Rebecca Foulger reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAN1B1 Rebecca Foulger reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAMLD1 Rebecca Foulger reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAGT1 Rebecca Foulger reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAGI2 Rebecca Foulger reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAGEL2 Rebecca Foulger reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAFB Rebecca Foulger reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAF Rebecca Foulger reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 MAB21L2 Rebecca Foulger reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LYST Rebecca Foulger reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LTBP3 Rebecca Foulger reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LTBP2 Rebecca Foulger reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRRC6 Rebecca Foulger reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRPPRC Rebecca Foulger reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRPAP1 Rebecca Foulger reviewed gene: LRPAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRP6 Rebecca Foulger reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRP5 Rebecca Foulger reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRP4 Rebecca Foulger reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRP2 Rebecca Foulger reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRIT3 Rebecca Foulger reviewed gene: LRIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRIG2 Rebecca Foulger reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRBA Rebecca Foulger reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LRAT Rebecca Foulger reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LONP1 Rebecca Foulger reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LMX1B Rebecca Foulger reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LMNA Rebecca Foulger reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LMBRD1 Rebecca Foulger reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LIPT2 Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LIPT1 Rebecca Foulger reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LIPN Rebecca Foulger reviewed gene: LIPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LINS1 Rebecca Foulger reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LIG4 Rebecca Foulger reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LIAS Rebecca Foulger reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LHX4 Rebecca Foulger reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LHX3 Rebecca Foulger reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LGI4 Rebecca Foulger reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LGI1 Rebecca Foulger reviewed gene: LGI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LFNG Rebecca Foulger reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LEMD3 Rebecca Foulger reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LEFTY2 Rebecca Foulger reviewed gene: LEFTY2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LDB3 Rebecca Foulger reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LBR Rebecca Foulger reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LAS1L Rebecca Foulger reviewed gene: LAS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LARS2 Rebecca Foulger reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LARP7 Rebecca Foulger reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LARGE1 Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LAMP2 Rebecca Foulger reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LAMC3 Rebecca Foulger reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LAMB1 Rebecca Foulger reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LAMA2 Rebecca Foulger reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 LAMA1 Rebecca Foulger reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 L2HGDH Rebecca Foulger reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 L1CAM Rebecca Foulger reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KRT74 Rebecca Foulger reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KRIT1 Rebecca Foulger reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KPTN Rebecca Foulger reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KPNA7 Rebecca Foulger reviewed gene: KPNA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KMT5B Rebecca Foulger reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KMT2E Rebecca Foulger reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KMT2D Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KMT2C Rebecca Foulger reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KMT2B Rebecca Foulger reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KMT2A Rebecca Foulger reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KLHL7 Rebecca Foulger reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KLHL40 Rebecca Foulger reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KLHL15 Rebecca Foulger reviewed gene: KLHL15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KLF8 Rebecca Foulger reviewed gene: KLF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KLF1 Rebecca Foulger reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KITLG Rebecca Foulger reviewed gene: KITLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIT Rebecca Foulger reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIRREL3 Rebecca Foulger reviewed gene: KIRREL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF7 Rebecca Foulger reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF5C Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF4A Rebecca Foulger reviewed gene: KIF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF2A Rebecca Foulger reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF22 Rebecca Foulger reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF1BP Rebecca Foulger reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIF11 Rebecca Foulger reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIDINS220 Rebecca Foulger reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIAA1109 Rebecca Foulger reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KIAA0586 Rebecca Foulger reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KDM6B Rebecca Foulger reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KDM6A Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KDM5C Rebecca Foulger reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KDM5B Rebecca Foulger reviewed gene: KDM5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KDM5A Rebecca Foulger reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KDM1A Rebecca Foulger reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCTD7 Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCTD1 Rebecca Foulger reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNT1 Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNQ5 Rebecca Foulger reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNQ1 Rebecca Foulger reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNMA1 Rebecca Foulger reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNK9 Rebecca Foulger reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNJ6 Rebecca Foulger reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNJ11 Rebecca Foulger reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNJ10 Rebecca Foulger reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNH5 Rebecca Foulger reviewed gene: KCNH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNH1 Rebecca Foulger reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNE1 Rebecca Foulger reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNC3 Rebecca Foulger reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNC1 Rebecca Foulger reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNB1 Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KCNA2 Rebecca Foulger reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KBTBD13 Rebecca Foulger reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KAT6B Rebecca Foulger reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KAT6A Rebecca Foulger reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KARS Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KANSL1 Rebecca Foulger reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 KANK1 Rebecca Foulger reviewed gene: KANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 JAM3 Rebecca Foulger reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 JAK3 Rebecca Foulger reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 JAGN1 Rebecca Foulger reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 JAG1 Rebecca Foulger reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IVD Rebecca Foulger reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ITPR1 Rebecca Foulger reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ITGA8 Rebecca Foulger reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ITGA7 Rebecca Foulger reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ITGA6 Rebecca Foulger reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ITGA3 Rebecca Foulger reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ITCH Rebecca Foulger reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ISPD Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IRX5 Rebecca Foulger reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IRF6 Rebecca Foulger reviewed gene: IRF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IQSEC2 Rebecca Foulger reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 INPPL1 Rebecca Foulger reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 INPP5K Rebecca Foulger reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 INPP5E Rebecca Foulger reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 INPP4A Rebecca Foulger reviewed gene: INPP4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IMPAD1 Rebecca Foulger reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IL1RAPL1 Rebecca Foulger reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IL11RA Rebecca Foulger reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IL11 Rebecca Foulger reviewed gene: IL11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IHH Rebecca Foulger reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGSF1 Rebecca Foulger reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGHMBP2 Rebecca Foulger reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGFBP7 Rebecca Foulger reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGF2 Rebecca Foulger reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGF1R Rebecca Foulger reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGF1 Rebecca Foulger reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IGBP1 Rebecca Foulger reviewed gene: IGBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFT80 Rebecca Foulger reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFT43 Rebecca Foulger reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFT172 Rebecca Foulger reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFT140 Rebecca Foulger reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFT122 Rebecca Foulger reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFITM5 Rebecca Foulger reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IFIH1 Rebecca Foulger reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IDUA Rebecca Foulger reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IDS Rebecca Foulger reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IARS2 Rebecca Foulger reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 IARS Rebecca Foulger reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HYLS1 Rebecca Foulger reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HYDIN Rebecca Foulger reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HYAL1 Rebecca Foulger reviewed gene: HYAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HUWE1 Rebecca Foulger reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HTRA2 Rebecca Foulger reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HSPG2 Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HSPD1 Rebecca Foulger reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HSF4 Rebecca Foulger reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HSD3B7 Rebecca Foulger reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HSD17B4 Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HSD17B10 Rebecca Foulger reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HR Rebecca Foulger reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HPSE2 Rebecca Foulger reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HPS1 Rebecca Foulger reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HPRT1 Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HPGD Rebecca Foulger reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HPD Rebecca Foulger reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HOXD13 Rebecca Foulger reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HOXC13 Rebecca Foulger reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HOXB1 Rebecca Foulger reviewed gene: HOXB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HOXA13 Rebecca Foulger reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HOXA11 Rebecca Foulger reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HOXA1 Rebecca Foulger reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HNRNPU Rebecca Foulger reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HNRNPH2 Rebecca Foulger reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HNF4A Rebecca Foulger reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HNF1B Rebecca Foulger reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HMX1 Rebecca Foulger reviewed gene: HMX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HMGCS2 Rebecca Foulger reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HMGCL Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HMGB3 Rebecca Foulger reviewed gene: HMGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HLCS Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIVEP2 Rebecca Foulger reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIST3H3 Rebecca Foulger reviewed gene: HIST3H3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIST1H4J Rebecca Foulger reviewed gene: HIST1H4J: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIST1H4C Rebecca Foulger reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIST1H4B Rebecca Foulger reviewed gene: HIST1H4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIST1H1E Rebecca Foulger reviewed gene: HIST1H1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HINT1 Rebecca Foulger reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HIBCH Rebecca Foulger reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HGSNAT Rebecca Foulger reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HEXB Rebecca Foulger reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HEXA Rebecca Foulger reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HESX1 Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HECW2 Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HDAC8 Rebecca Foulger reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HDAC4 Rebecca Foulger reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HCN1 Rebecca Foulger reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HCFC1 Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HAX1 Rebecca Foulger reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HARS Rebecca Foulger reviewed gene: HARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HADHA Rebecca Foulger reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HADH Rebecca Foulger reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 HACE1 Rebecca Foulger reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 H3F3A Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GZF1 Rebecca Foulger reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GUSB Rebecca Foulger reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GUCY2C Rebecca Foulger reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GTPBP3 Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GTF2H5 Rebecca Foulger reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GTF2E2 Rebecca Foulger reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GSPT2 Rebecca Foulger reviewed gene: GSPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRM6 Rebecca Foulger reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRM1 Rebecca Foulger reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRIN2D Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRIN2B Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRIN2A Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRIN1 Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRIK2 Rebecca Foulger reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRIA3 Rebecca Foulger reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRHL3 Rebecca Foulger reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GRHL2 Rebecca Foulger reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GPX4 Rebecca Foulger reviewed gene: GPX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GPSM2 Rebecca Foulger reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GPC6 Rebecca Foulger reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GPC3 Rebecca Foulger reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GPAA1 Rebecca Foulger reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GORAB Rebecca Foulger reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GON4L Rebecca Foulger reviewed gene: GON4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNS Rebecca Foulger reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNPTG Rebecca Foulger reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNPTAB Rebecca Foulger reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNPAT Rebecca Foulger reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNB5 Rebecca Foulger reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNB3 Rebecca Foulger reviewed gene: GNB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNB1 Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNAS Rebecca Foulger reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNAO1 Rebecca Foulger reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNAI3 Rebecca Foulger reviewed gene: GNAI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNAI1 Rebecca Foulger reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNA14 Rebecca Foulger reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GNA11 Rebecca Foulger reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GMPPB Rebecca Foulger reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GMPPA Rebecca Foulger reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GMNN Rebecca Foulger reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GM2A Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLUL Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLUD1 Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLMN Rebecca Foulger reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLIS3 Rebecca Foulger reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLIS2 Rebecca Foulger reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLI3 Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLI2 Rebecca Foulger reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLE1 Rebecca Foulger reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLDN Rebecca Foulger reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLDC Rebecca Foulger reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GLB1 Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GK Rebecca Foulger reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GJC2 Rebecca Foulger reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GJB3 Rebecca Foulger reviewed gene: GJB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GJB2 Rebecca Foulger reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GJA8 Rebecca Foulger reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GJA3 Rebecca Foulger reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GJA1 Rebecca Foulger reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GHR Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GFM1 Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GFER Rebecca Foulger reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GFAP Rebecca Foulger reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GDI1 Rebecca Foulger reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GDF6 Rebecca Foulger reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GDF5 Rebecca Foulger reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GDF3 Rebecca Foulger reviewed gene: GDF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GDF1 Rebecca Foulger reviewed gene: GDF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GCSH Rebecca Foulger reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GCH1 Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GCDH Rebecca Foulger reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GBA2 Rebecca Foulger reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GBA Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GATM Rebecca Foulger reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GATAD2B Rebecca Foulger reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GATA6 Rebecca Foulger reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GATA4 Rebecca Foulger reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GATA2 Rebecca Foulger reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GAS8 Rebecca Foulger reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GAMT Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GALT Rebecca Foulger reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GALNS Rebecca Foulger reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GALK1 Rebecca Foulger reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GALE Rebecca Foulger reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GALC Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GAD1 Rebecca Foulger reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GABRG2 Rebecca Foulger reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GABRB3 Rebecca Foulger reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GABRB2 Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GABRA1 Rebecca Foulger reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GABBR2 Rebecca Foulger reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 GAA Rebecca Foulger reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FZD6 Rebecca Foulger reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FZD5 Rebecca Foulger reviewed gene: FZD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FYCO1 Rebecca Foulger reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FUCA1 Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FTSJ1 Rebecca Foulger reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FTO Rebecca Foulger reviewed gene: FTO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FTL Rebecca Foulger reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FTCD Rebecca Foulger reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FRY Rebecca Foulger reviewed gene: FRY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FRRS1L Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FRMPD4 Rebecca Foulger reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FRMD7 Rebecca Foulger reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FREM2 Rebecca Foulger reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FREM1 Rebecca Foulger reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FRAS1 Rebecca Foulger reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXRED1 Rebecca Foulger reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXP3 Rebecca Foulger reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXP2 Rebecca Foulger reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXP1 Rebecca Foulger reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXN1 Rebecca Foulger reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXL2 Rebecca Foulger reviewed gene: FOXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXG1 Rebecca Foulger reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXF1 Rebecca Foulger reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXE3 Rebecca Foulger reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXE1 Rebecca Foulger reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXC2 Rebecca Foulger reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOXC1 Rebecca Foulger reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FOLR1 Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FN1 Rebecca Foulger reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FMR1 Rebecca Foulger reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FMN2 Rebecca Foulger reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLVCR2 Rebecca Foulger reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLVCR1 Rebecca Foulger reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLT4 Rebecca Foulger reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLNB Rebecca Foulger reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLNA Rebecca Foulger reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLG Rebecca Foulger reviewed gene: FLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FLAD1 Rebecca Foulger reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FKTN Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FKRP Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FKBP14 Rebecca Foulger reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FIG4 Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FHL1 Rebecca Foulger reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FH Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGFR3 Rebecca Foulger reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGFR2 Rebecca Foulger reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGFR1 Rebecca Foulger reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGF9 Rebecca Foulger reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGF3 Rebecca Foulger reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGF12 Rebecca Foulger reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGF10 Rebecca Foulger reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FGD1 Rebecca Foulger reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FEZF1 Rebecca Foulger reviewed gene: FEZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBXW4 Rebecca Foulger reviewed gene: FBXW4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBXO25 Rebecca Foulger reviewed gene: FBXO25: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBXO11 Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBXL4 Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBP1 Rebecca Foulger reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBN2 Rebecca Foulger reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBN1 Rebecca Foulger reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FBLN1 Rebecca Foulger reviewed gene: FBLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAT4 Rebecca Foulger reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FASN Rebecca Foulger reviewed gene: FASN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAR1 Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCM Rebecca Foulger reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCL Rebecca Foulger reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCI Rebecca Foulger reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCG Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCF Rebecca Foulger reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCE Rebecca Foulger reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCD2 Rebecca Foulger reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCC Rebecca Foulger reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCB Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FANCA Rebecca Foulger reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAM58A Rebecca Foulger reviewed gene: FAM58A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAM20C Rebecca Foulger reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAM20A Rebecca Foulger reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAM161A Rebecca Foulger reviewed gene: FAM161A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAM126A Rebecca Foulger reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAM111A Rebecca Foulger reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 FAH Rebecca Foulger reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EZH2 Rebecca Foulger reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EYA1 Rebecca Foulger reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EXT2 Rebecca Foulger reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EXPH5 Rebecca Foulger reviewed gene: EXPH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EXOSC3 Rebecca Foulger reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EVC2 Rebecca Foulger reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EVC Rebecca Foulger reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ETHE1 Rebecca Foulger reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ETFDH Rebecca Foulger reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ETFB Rebecca Foulger reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ETFA Rebecca Foulger reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ESCO2 Rebecca Foulger reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERMARD Rebecca Foulger reviewed gene: ERMARD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERLIN2 Rebecca Foulger reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERF Rebecca Foulger reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC8 Rebecca Foulger reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC6L2 Rebecca Foulger reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC6 Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC5 Rebecca Foulger reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC4 Rebecca Foulger reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC3 Rebecca Foulger reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC2 Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERCC1 Rebecca Foulger reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ERBB3 Rebecca Foulger reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EPHB4 Rebecca Foulger reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EPG5 Rebecca Foulger reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EPB41L1 Rebecca Foulger reviewed gene: EPB41L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EP300 Rebecca Foulger reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EOMES Rebecca Foulger reviewed gene: EOMES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EOGT Rebecca Foulger reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ENTPD1 Rebecca Foulger reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ENPP1 Rebecca Foulger reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EMX2 Rebecca Foulger reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EMG1 Rebecca Foulger reviewed gene: EMG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EMC1 Rebecca Foulger reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ELP2 Rebecca Foulger reviewed gene: ELP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ELOVL4 Rebecca Foulger reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ELN Rebecca Foulger reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ELMO2 Rebecca Foulger reviewed gene: ELMO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ELAC2 Rebecca Foulger reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EIF4A3 Rebecca Foulger reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EIF2S3 Rebecca Foulger reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EIF2AK3 Rebecca Foulger reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EHMT1 Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EGR2 Rebecca Foulger reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EFTUD2 Rebecca Foulger reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EFNB1 Rebecca Foulger reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EEF1B2 Rebecca Foulger reviewed gene: EEF1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EEF1A2 Rebecca Foulger reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EED Rebecca Foulger reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EDNRB Rebecca Foulger reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EDNRA Rebecca Foulger reviewed gene: EDNRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EDN1 Rebecca Foulger reviewed gene: EDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EDAR Rebecca Foulger reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EDA Rebecca Foulger reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ECEL1 Rebecca Foulger reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EBP Rebecca Foulger reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 EBF3 Rebecca Foulger reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DYRK1A Rebecca Foulger reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DYNC2H1 Rebecca Foulger reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DYNC1H1 Rebecca Foulger reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DYM Rebecca Foulger reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DVL3 Rebecca Foulger reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DVL1 Rebecca Foulger reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DSTYK Rebecca Foulger reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DSPP Rebecca Foulger reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DSG1 Rebecca Foulger reviewed gene: DSG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DSE Rebecca Foulger reviewed gene: DSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DRC1 Rebecca Foulger reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DPM3 Rebecca Foulger reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DPM1 Rebecca Foulger reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DPF2 Rebecca Foulger reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DPAGT1 Rebecca Foulger reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DOLK Rebecca Foulger reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DOCK8 Rebecca Foulger reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DOCK7 Rebecca Foulger reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DOCK6 Rebecca Foulger reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNMT3B Rebecca Foulger reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNMT3A Rebecca Foulger reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNM1 Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNAJC12 Rebecca Foulger reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNAJB13 Rebecca Foulger reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNAH5 Rebecca Foulger reviewed gene: DNAH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNAAF5 Rebecca Foulger reviewed gene: DNAAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNAAF4 Rebecca Foulger reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNAAF3 Rebecca Foulger reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DNA2 Rebecca Foulger reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DMPK Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DMP1 Rebecca Foulger reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DMD Rebecca Foulger reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLX5 Rebecca Foulger reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLL4 Rebecca Foulger reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLL3 Rebecca Foulger reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLG4 Rebecca Foulger reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLG3 Rebecca Foulger reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLD Rebecca Foulger reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DLAT Rebecca Foulger reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DKC1 Rebecca Foulger reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DIS3L2 Rebecca Foulger reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DIP2B Rebecca Foulger reviewed gene: DIP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHX30 Rebecca Foulger reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHTKD1 Rebecca Foulger reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHRS3 Rebecca Foulger reviewed gene: DHRS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHODH Rebecca Foulger reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHFR Rebecca Foulger reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHDDS Rebecca Foulger reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHCR7 Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DHCR24 Rebecca Foulger reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DGAT1 Rebecca Foulger reviewed gene: DGAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DEPDC5 Rebecca Foulger reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DENND5A Rebecca Foulger reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DEAF1 Rebecca Foulger reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDX6 Rebecca Foulger reviewed gene: DDX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDX59 Rebecca Foulger reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDX58 Rebecca Foulger reviewed gene: DDX58: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDX3X Rebecca Foulger reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDX11 Rebecca Foulger reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDR2 Rebecca Foulger reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDOST Rebecca Foulger reviewed gene: DDOST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDHD2 Rebecca Foulger reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDHD1 Rebecca Foulger reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDC Rebecca Foulger reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DDB2 Rebecca Foulger reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DCX Rebecca Foulger reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DCHS1 Rebecca Foulger reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DCDC2 Rebecca Foulger reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DCC Rebecca Foulger reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DCAF17 Rebecca Foulger reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DBT Rebecca Foulger reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DARS2 Rebecca Foulger reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DARS Rebecca Foulger reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DAG1 Rebecca Foulger reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 D2HGDH Rebecca Foulger reviewed gene: D2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CYP2U1 Rebecca Foulger reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CYP24A1 Rebecca Foulger reviewed gene: CYP24A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CYP1B1 Rebecca Foulger reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CYC1 Rebecca Foulger reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CYB5R3 Rebecca Foulger reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CWC27 Rebecca Foulger reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CUX2 Rebecca Foulger reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CUL7 Rebecca Foulger reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CUL4B Rebecca Foulger reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CUL3 Rebecca Foulger reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTSK Rebecca Foulger reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTSD Rebecca Foulger reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTSA Rebecca Foulger reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTNS Rebecca Foulger reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTNND1 Rebecca Foulger reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTNNB1 Rebecca Foulger reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTNNA2 Rebecca Foulger reviewed gene: CTNNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTDP1 Rebecca Foulger reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTCF Rebecca Foulger reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CTC1 Rebecca Foulger reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CSTA Rebecca Foulger reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CSPP1 Rebecca Foulger reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CSNK2A1 Rebecca Foulger reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CSNK1G1 Rebecca Foulger reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYGD Rebecca Foulger reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYGC Rebecca Foulger reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYBB3 Rebecca Foulger reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYBB2 Rebecca Foulger reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYBB1 Rebecca Foulger reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYBA4 Rebecca Foulger reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYBA1 Rebecca Foulger reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYAB Rebecca Foulger reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRYAA Rebecca Foulger reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRX Rebecca Foulger reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRKL Rebecca Foulger reviewed gene: CRKL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRIPT Rebecca Foulger reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRIM1 Rebecca Foulger reviewed gene: CRIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRELD1 Rebecca Foulger reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CREBBP Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRBN Rebecca Foulger reviewed gene: CRBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRB2 Rebecca Foulger reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRB1 Rebecca Foulger reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CRADD Rebecca Foulger reviewed gene: CRADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CPS1 Rebecca Foulger reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CPAMD8 Rebecca Foulger reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COX7B Rebecca Foulger reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COX6B1 Rebecca Foulger reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COX15 Rebecca Foulger reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COX14 Rebecca Foulger reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COX10 Rebecca Foulger reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COQ9 Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COQ8A Rebecca Foulger reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COQ5 Rebecca Foulger reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COQ4 Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COQ2 Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COMP Rebecca Foulger reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COLEC11 Rebecca Foulger reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COLEC10 Rebecca Foulger reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL9A3 Rebecca Foulger reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL9A2 Rebecca Foulger reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL9A1 Rebecca Foulger reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL6A3 Rebecca Foulger reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL6A1 Rebecca Foulger reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL4A4 Rebecca Foulger reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL4A3BP Rebecca Foulger reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL4A3 Rebecca Foulger reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL4A2 Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL4A1 Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL2A1 Rebecca Foulger reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL25A1 Rebecca Foulger reviewed gene: COL25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL1A1 Rebecca Foulger reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL18A1 Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL13A1 Rebecca Foulger reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL11A2 Rebecca Foulger reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL11A1 Rebecca Foulger reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COL10A1 Rebecca Foulger reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COG8 Rebecca Foulger reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COG7 Rebecca Foulger reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COG5 Rebecca Foulger reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COG4 Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COG1 Rebecca Foulger reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COASY Rebecca Foulger reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 COA5 Rebecca Foulger reviewed gene: COA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CNTNAP2 Rebecca Foulger reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CNTNAP1 Rebecca Foulger reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CNOT3 Rebecca Foulger reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CNKSR2 Rebecca Foulger reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CNKSR1 Rebecca Foulger reviewed gene: CNKSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLTC Rebecca Foulger reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLPP Rebecca Foulger reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLPB Rebecca Foulger reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLP1 Rebecca Foulger reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLN8 Rebecca Foulger reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLN6 Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLN5 Rebecca Foulger reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLN3 Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLMP Rebecca Foulger reviewed gene: CLMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLIC2 Rebecca Foulger reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLDN19 Rebecca Foulger reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLCNKB Rebecca Foulger reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLCNKA Rebecca Foulger reviewed gene: CLCNKA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLCN7 Rebecca Foulger reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CLCN4 Rebecca Foulger reviewed gene: CLCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CKAP2L Rebecca Foulger reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CIT Rebecca Foulger reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CISD2 Rebecca Foulger reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CIC Rebecca Foulger reviewed gene: CIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CIB2 Rebecca Foulger reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHUK Rebecca Foulger reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHSY1 Rebecca Foulger reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHST3 Rebecca Foulger reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHST14 Rebecca Foulger reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHRNG Rebecca Foulger reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHRNB2 Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHRNA4 Rebecca Foulger reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHRNA2 Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHRNA1 Rebecca Foulger reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHRDL1 Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHMP1A Rebecca Foulger reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHM Rebecca Foulger reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHD8 Rebecca Foulger reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHD7 Rebecca Foulger reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHD4 Rebecca Foulger reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHD3 Rebecca Foulger reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHD2 Rebecca Foulger reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CHAMP1 Rebecca Foulger reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CFL2 Rebecca Foulger reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CFC1 Rebecca Foulger reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP83 Rebecca Foulger reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP63 Rebecca Foulger reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP57 Rebecca Foulger reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP41 Rebecca Foulger reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP290 Rebecca Foulger reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP152 Rebecca Foulger reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP135 Rebecca Foulger reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CEP104 Rebecca Foulger reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CENPJ Rebecca Foulger reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CENPF Rebecca Foulger reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDT1 Rebecca Foulger reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDON Rebecca Foulger reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDKN1C Rebecca Foulger reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDKL5 Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDK5RAP2 Rebecca Foulger reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDK16 Rebecca Foulger reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDK13 Rebecca Foulger reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDK10 Rebecca Foulger reviewed gene: CDK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDH3 Rebecca Foulger reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDH23 Rebecca Foulger reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDH15 Rebecca Foulger reviewed gene: CDH15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDH1 Rebecca Foulger reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDC6 Rebecca Foulger reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CDC45 Rebecca Foulger reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CD96 Rebecca Foulger reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CD151 Rebecca Foulger reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCNO Rebecca Foulger reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCND2 Rebecca Foulger reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCNA2 Rebecca Foulger reviewed gene: CCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC88C Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC88A Rebecca Foulger reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC8 Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC78 Rebecca Foulger reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC65 Rebecca Foulger reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC40 Rebecca Foulger reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC39 Rebecca Foulger reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC22 Rebecca Foulger reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC151 Rebecca Foulger reviewed gene: CCDC151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC115 Rebecca Foulger reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC114 Rebecca Foulger reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCDC103 Rebecca Foulger reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CCBE1 Rebecca Foulger reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CC2D2A Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CC2D1A Rebecca Foulger reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CBS Rebecca Foulger reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CBL Rebecca Foulger reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAV1 Rebecca Foulger reviewed gene: CAV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CASP2 Rebecca Foulger reviewed gene: CASP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CASK Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CARS2 Rebecca Foulger reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAPRIN1 Rebecca Foulger reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAPN10 Rebecca Foulger reviewed gene: CAPN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAMTA1 Rebecca Foulger reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAMK2B Rebecca Foulger reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAMK2A Rebecca Foulger reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CAD Rebecca Foulger reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CACNB4 Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CACNA1H Rebecca Foulger reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CACNA1G Rebecca Foulger reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CACNA1D Rebecca Foulger reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CACNA1C Rebecca Foulger reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CACNA1A Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CA8 Rebecca Foulger reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CA5A Rebecca Foulger reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 CA2 Rebecca Foulger reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C8orf37 Rebecca Foulger reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C5orf42 Rebecca Foulger reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C4orf26 Rebecca Foulger reviewed gene: C4orf26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C2orf71 Rebecca Foulger reviewed gene: C2orf71: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C2CD3 Rebecca Foulger reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C21orf59 Rebecca Foulger reviewed gene: C21orf59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C21orf2 Rebecca Foulger reviewed gene: C21orf2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C1QBP Rebecca Foulger reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C12orf65 Rebecca Foulger reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 C12orf57 Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BUB1B Rebecca Foulger reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BTD Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BSND Rebecca Foulger reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRWD3 Rebecca Foulger reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRPF1 Rebecca Foulger reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRIP1 Rebecca Foulger reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRCA2 Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRCA1 Rebecca Foulger reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRAT1 Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BPTF Rebecca Foulger reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BPIFB6 Rebecca Foulger reviewed gene: BPIFB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BOLA3 Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BMPR1B Rebecca Foulger reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BMPER Rebecca Foulger reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BMP4 Rebecca Foulger reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BMP2 Rebecca Foulger reviewed gene: BMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BLOC1S6 Rebecca Foulger reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BLM Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BIN1 Rebecca Foulger reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BICD2 Rebecca Foulger reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BHLHA9 Rebecca Foulger reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BGN Rebecca Foulger reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BFSP2 Rebecca Foulger reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BCS1L Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BCOR Rebecca Foulger reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BCL11A Rebecca Foulger reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BCKDHB Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BCKDHA Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BCAP31 Rebecca Foulger reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS9 Rebecca Foulger reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS7 Rebecca Foulger reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS5 Rebecca Foulger reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS4 Rebecca Foulger reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS2 Rebecca Foulger reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS12 Rebecca Foulger reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS10 Rebecca Foulger reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BBS1 Rebecca Foulger reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 BANF1 Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 B9D1 Rebecca Foulger reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 B4GALT7 Rebecca Foulger reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 B3GALT6 Rebecca Foulger reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 B3GALNT2 Rebecca Foulger reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AXIN1 Rebecca Foulger reviewed gene: AXIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AUTS2 Rebecca Foulger reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AUH Rebecca Foulger reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATRX Rebecca Foulger reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATR Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP8B1 Rebecca Foulger reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP8A2 Rebecca Foulger reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP7A Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP6V1B2 Rebecca Foulger reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP6V1B1 Rebecca Foulger reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP6AP2 Rebecca Foulger reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATP13A2 Rebecca Foulger reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATOH7 Rebecca Foulger reviewed gene: ATOH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATM Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATIC Rebecca Foulger reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ATAD3A Rebecca Foulger reviewed gene: ATAD3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASXL3 Rebecca Foulger reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASXL2 Rebecca Foulger reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASXL1 Rebecca Foulger reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASS1 Rebecca Foulger reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASPM Rebecca Foulger reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASPH Rebecca Foulger reviewed gene: ASPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASPA Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASL Rebecca Foulger reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASH1L Rebecca Foulger reviewed gene: ASH1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASCL1 Rebecca Foulger reviewed gene: ASCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASCC3 Rebecca Foulger reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASCC1 Rebecca Foulger reviewed gene: ASCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ASAH1 Rebecca Foulger reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARX Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARSE Rebecca Foulger reviewed gene: ARSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARSB Rebecca Foulger reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARSA Rebecca Foulger reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARMC9 Rebecca Foulger reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARMC4 Rebecca Foulger reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARL6 Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARL14EP Rebecca Foulger reviewed gene: ARL14EP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARID2 Rebecca Foulger reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARID1B Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARID1A Rebecca Foulger reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARHGEF9 Rebecca Foulger reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARHGEF6 Rebecca Foulger reviewed gene: ARHGEF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARHGAP31 Rebecca Foulger reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARG1 Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARFGEF2 Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ARCN1 Rebecca Foulger reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AR Rebecca Foulger reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 APTX Rebecca Foulger reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 APOPT1 Rebecca Foulger reviewed gene: APOPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AP4S1 Rebecca Foulger reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AP4M1 Rebecca Foulger reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AP4E1 Rebecca Foulger reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AP4B1 Rebecca Foulger reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AP3B2 Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AP1S2 Rebecca Foulger reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ANTXR1 Rebecca Foulger reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ANO5 Rebecca Foulger reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ANKRD26 Rebecca Foulger reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ANKRD11 Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ANKH Rebecca Foulger reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AMT Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AMPD2 Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AMER1 Rebecca Foulger reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALX4 Rebecca Foulger reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALX3 Rebecca Foulger reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALX1 Rebecca Foulger reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALS2 Rebecca Foulger reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALPL Rebecca Foulger reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALMS1 Rebecca Foulger reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG9 Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG8 Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG6 Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG3 Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG2 Rebecca Foulger reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG13 Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG12 Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG11 Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALG1 Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDOB Rebecca Foulger reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDOA Rebecca Foulger reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDH7A1 Rebecca Foulger reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDH5A1 Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDH4A1 Rebecca Foulger reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDH3A2 Rebecca Foulger reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDH1A3 Rebecca Foulger reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALDH18A1 Rebecca Foulger reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ALAD Rebecca Foulger reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AKT3 Rebecca Foulger reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AKR1D1 Rebecca Foulger reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AK2 Rebecca Foulger reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AIRE Rebecca Foulger reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AIPL1 Rebecca Foulger reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AIMP1 Rebecca Foulger reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AIFM1 Rebecca Foulger reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AHI1 Rebecca Foulger reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AHDC1 Rebecca Foulger reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AGXT Rebecca Foulger reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AGTR2 Rebecca Foulger reviewed gene: AGTR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AGPS Rebecca Foulger reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AGL Rebecca Foulger reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AGK Rebecca Foulger reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AGA Rebecca Foulger reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AFG3L2 Rebecca Foulger reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AFF4 Rebecca Foulger reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AFF3 Rebecca Foulger reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AFF2 Rebecca Foulger reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADSL Rebecca Foulger reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADRA2B Rebecca Foulger reviewed gene: ADRA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADNP Rebecca Foulger reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADK Rebecca Foulger reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADGRG6 Rebecca Foulger reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADGRG1 Rebecca Foulger reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADAMTS18 Rebecca Foulger reviewed gene: ADAMTS18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ADA Rebecca Foulger reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACY1 Rebecca Foulger reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACVR2B Rebecca Foulger reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACVR1 Rebecca Foulger reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACTL6B Rebecca Foulger reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACTG1 Rebecca Foulger reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACTB Rebecca Foulger reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACTA2 Rebecca Foulger reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACTA1 Rebecca Foulger reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACSL4 Rebecca Foulger reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACP5 Rebecca Foulger reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACOX1 Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACO2 Rebecca Foulger reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACBD6 Rebecca Foulger reviewed gene: ACBD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACAT1 Rebecca Foulger reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACAN Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACADVL Rebecca Foulger reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACADS Rebecca Foulger reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACADM Rebecca Foulger reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ACAD9 Rebecca Foulger reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABL1 Rebecca Foulger reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABHD5 Rebecca Foulger reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCD4 Rebecca Foulger reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCD1 Rebecca Foulger reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCC9 Rebecca Foulger reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCC6 Rebecca Foulger reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCB7 Rebecca Foulger reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCB6 Rebecca Foulger reviewed gene: ABCB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 ABCB11 Rebecca Foulger reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AASS Rebecca Foulger reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AARS Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 AAAS Rebecca Foulger reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 ZSWIM6 Rebecca Foulger gene: ZSWIM6 was added
gene: ZSWIM6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS 603671
Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments
DDG2P v0.1 ZNF750 Rebecca Foulger gene: ZNF750 was added
gene: ZNF750 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF750 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNF750 were set to 16751772
Phenotypes for gene: ZNF750 were set to SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS 610227
DDG2P v0.1 ZNF713 Rebecca Foulger gene: ZNF713 was added
gene: ZNF713 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF713 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNF713 were set to 25196122
Phenotypes for gene: ZNF713 were set to AUTISM 209850
Mode of pathogenicity for gene: ZNF713 was set to Other - please provide details in the comments
DDG2P v0.1 ZNF599 Rebecca Foulger gene: ZNF599 was added
gene: ZNF599 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF599 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZNF599 were set to NOT IN OMIM
Mode of pathogenicity for gene: ZNF599 was set to Other - please provide details in the comments
DDG2P v0.1 ZNF526 Rebecca Foulger gene: ZNF526 was added
gene: ZNF526 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 21937992
Phenotypes for gene: ZNF526 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ZNF526 was set to Other - please provide details in the comments
DDG2P v0.1 ZMPSTE24 Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612 for gene: ZMPSTE24
Publications for gene ZMPSTE24 were changed from to 12913070
DDG2P v0.1 ZMPSTE24 Rebecca Foulger gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZMPSTE24 were set to LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186
DDG2P v0.1 ZIC3 Rebecca Foulger gene: ZIC3 was added
gene: ZIC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683
DDG2P v0.1 ZIC1 Rebecca Foulger gene: ZIC1 was added
gene: ZIC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZIC1 were set to 26340333
Phenotypes for gene: ZIC1 were set to CRANIOSYNOSTOSIS 6 616602
Mode of pathogenicity for gene: ZIC1 was set to Other - please provide details in the comments
DDG2P v0.1 ZEB1 Rebecca Foulger gene: ZEB1 was added
gene: ZEB1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZEB1 were set to CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270
DDG2P v0.1 ZDHHC15 Rebecca Foulger gene: ZDHHC15 was added
gene: ZDHHC15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZDHHC15 were set to 15915161
Phenotypes for gene: ZDHHC15 were set to MENTAL RETARDATION X-LINKED TYPE 91 300577
DDG2P v0.1 ZC4H2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 for gene: ZC4H2
DDG2P v0.1 ZC4H2 Rebecca Foulger gene: ZC4H2 was added
gene: ZC4H2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ZC4H2 were set to 4039531; 1915520; 23623388
Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580
DDG2P v0.1 ZBTB20 Rebecca Foulger gene: ZBTB20 was added
gene: ZBTB20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZBTB20 were set to 25017102
Phenotypes for gene: ZBTB20 were set to PRIMROSE SYNDROME 259050
Mode of pathogenicity for gene: ZBTB20 was set to Other - please provide details in the comments
DDG2P v0.1 ZBTB16 Rebecca Foulger gene: ZBTB16 was added
gene: ZBTB16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZBTB16 were set to SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447
Mode of pathogenicity for gene: ZBTB16 was set to Other - please provide details in the comments
DDG2P v0.1 YY1 Rebecca Foulger gene: YY1 was added
gene: YY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YY1 were set to 28575647; 21076407
Phenotypes for gene: YY1 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: YY1 was set to Other - please provide details in the comments
DDG2P v0.1 YWHAG Rebecca Foulger gene: YWHAG was added
gene: YWHAG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: YWHAG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YWHAG were set to 28777935
Phenotypes for gene: YWHAG were set to Early-Onset Epilepsy
Mode of pathogenicity for gene: YWHAG was set to Other - please provide details in the comments
DDG2P v0.1 YAP1 Rebecca Foulger gene: YAP1 was added
gene: YAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: YAP1 were set to 24462371
Phenotypes for gene: YAP1 were set to COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433
DDG2P v0.1 XPNPEP3 Rebecca Foulger gene: XPNPEP3 was added
gene: XPNPEP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 20179356
Phenotypes for gene: XPNPEP3 were set to NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159
DDG2P v0.1 WWOX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 for gene: WWOX
Publications for gene WWOX were changed from 24369382 to 24456803
DDG2P v0.1 WT1 Rebecca Foulger gene: WT1 was added
gene: WT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WT1 were set to 8388765; 1655284; 1302008; 1327525
Phenotypes for gene: WT1 were set to DENYS-DRASH SYNDROME 194080
Mode of pathogenicity for gene: WT1 was set to Other - please provide details in the comments
DDG2P v0.1 WRAP53 Rebecca Foulger gene: WRAP53 was added
gene: WRAP53 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 21205863
Phenotypes for gene: WRAP53 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988
Mode of pathogenicity for gene: WRAP53 was set to Other - please provide details in the comments
DDG2P v0.1 WNT7A Rebecca Foulger gene: WNT7A was added
gene: WNT7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7A were set to 9128926
Phenotypes for gene: WNT7A were set to FUHRMANN SYNDROME 228930
Mode of pathogenicity for gene: WNT7A was set to Other - please provide details in the comments
DDG2P v0.1 WNT5A Rebecca Foulger gene: WNT5A was added
gene: WNT5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WNT5A were set to 5771504; 19918918
Phenotypes for gene: WNT5A were set to WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700
Mode of pathogenicity for gene: WNT5A was set to Other - please provide details in the comments
DDG2P v0.1 WNT4 Rebecca Foulger gene: WNT4 was added
gene: WNT4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: WNT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WNT4 were set to 18179883
Phenotypes for gene: WNT4 were set to SERKAL SYNDROME 611812
Mode of pathogenicity for gene: WNT4 was set to Other - please provide details in the comments
DDG2P v0.1 WDR81 Rebecca Foulger gene: WDR81 was added
gene: WDR81 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR81 were set to 21885617
Phenotypes for gene: WDR81 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185
Mode of pathogenicity for gene: WDR81 was set to Other - please provide details in the comments
DDG2P v0.1 WDR45B Rebecca Foulger gene: WDR45B was added
gene: WDR45B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992
Phenotypes for gene: WDR45B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: WDR45B was set to Other - please provide details in the comments
DDG2P v0.1 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 23176820
Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
DDG2P v0.1 WDR34 Rebecca Foulger Added phenotypes SEVERE ASPHYXIATING THORACIC DYSPLASIA for gene: WDR34
DDG2P v0.1 WDR34 Rebecca Foulger gene: WDR34 was added
gene: WDR34 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR34 were set to 24183449
Phenotypes for gene: WDR34 were set to SHORT-RIB POLYDACTYLY SYNDROME TYPE III
Mode of pathogenicity for gene: WDR34 was set to Other - please provide details in the comments
DDG2P v0.1 WDR19 Rebecca Foulger Added phenotypes ASPHYXIATING THORACIC DYSTROPHY 5 614376 for gene: WDR19
Publications for gene WDR19 were changed from 22019273 to 19430947
DDG2P v0.1 WDR11 Rebecca Foulger gene: WDR11 was added
gene: WDR11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR11 were set to KALLMANN SYNDROME
Mode of pathogenicity for gene: WDR11 was set to Other - please provide details in the comments
DDG2P v0.1 VSX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 2 610093 for gene: VSX2
DDG2P v0.1 VSX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092 for gene: VSX2
DDG2P v0.1 VSX2 Rebecca Foulger gene: VSX2 was added
gene: VSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092
DDG2P v0.1 VPS33B Rebecca Foulger gene: VPS33B was added
gene: VPS33B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164
DDG2P v0.1 VIPAS39 Rebecca Foulger gene: VIPAS39 was added
gene: VIPAS39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404
DDG2P v0.1 VANGL1 Rebecca Foulger gene: VANGL1 was added
gene: VANGL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: VANGL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VANGL1 were set to 17409324
Phenotypes for gene: VANGL1 were set to NEURAL TUBE DEFECTS 182940
Mode of pathogenicity for gene: VANGL1 was set to Other - please provide details in the comments
DDG2P v0.1 VAC14 Rebecca Foulger gene: VAC14 was added
gene: VAC14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VAC14 were set to 27292112
Phenotypes for gene: VAC14 were set to Progressive neurological disorder and regression of developmental milestones
Mode of pathogenicity for gene: VAC14 was set to Other - please provide details in the comments
DDG2P v0.1 UTP4 Rebecca Foulger gene: UTP4 was added
gene: UTP4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UTP4 were set to 12417987
Phenotypes for gene: UTP4 were set to NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 205306
Mode of pathogenicity for gene: UTP4 was set to Other - please provide details in the comments
DDG2P v0.1 USP9X Rebecca Foulger gene: USP9X was added
gene: USP9X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: USP9X were set to 24607389; 26833328
Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99 300919
DDG2P v0.1 USB1 Rebecca Foulger gene: USB1 was added
gene: USB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USB1 were set to 23190533; 23393019; 25044170
Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia
DDG2P v0.1 UROS Rebecca Foulger gene: UROS was added
gene: UROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROS were set to 7860775; 11254675; 19965637; 9834209; 1733834; 8946173; 12060141; 2331520
Phenotypes for gene: UROS were set to CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700
DDG2P v0.1 UROC1 Rebecca Foulger gene: UROC1 was added
gene: UROC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 19304569
Phenotypes for gene: UROC1 were set to UROCANASE DEFICIENCY 276880
Mode of pathogenicity for gene: UROC1 was set to Other - please provide details in the comments
DDG2P v0.1 UQCRQ Rebecca Foulger gene: UQCRQ was added
gene: UQCRQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211
Mode of pathogenicity for gene: UQCRQ was set to Other - please provide details in the comments
DDG2P v0.1 UNC80 Rebecca Foulger gene: UNC80 was added
gene: UNC80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC80 were set to 26708751; 26708753
Phenotypes for gene: UNC80 were set to Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
DDG2P v0.1 UFM1 Rebecca Foulger gene: UFM1 was added
gene: UFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UFM1 were set to 29868776
Phenotypes for gene: UFM1 were set to Severe early-onset encephalopathy with progressive microcephaly,
DDG2P v0.1 UFC1 Rebecca Foulger gene: UFC1 was added
gene: UFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UFC1 was set to
Phenotypes for gene: UFC1 were set to Severe early-onset encephalopathy with progressive microcephaly
DDG2P v0.1 UBTF Rebecca Foulger gene: UBTF was added
gene: UBTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBTF were set to 28777933
Phenotypes for gene: UBTF were set to Childhood-Onset Neurodegeneration
Mode of pathogenicity for gene: UBTF was set to Other - please provide details in the comments
DDG2P v0.1 UBR7 Rebecca Foulger gene: UBR7 was added
gene: UBR7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 21937992
Phenotypes for gene: UBR7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: UBR7 was set to Other - please provide details in the comments
DDG2P v0.1 UBA5 Rebecca Foulger gene: UBA5 was added
gene: UBA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBA5 were set to 27545674; 27545681
Phenotypes for gene: UBA5 were set to Severe Infantile-Onset Encephalopathy
DDG2P v0.1 TWIST2 Rebecca Foulger gene: TWIST2 was added
gene: TWIST2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TWIST2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TWIST2 were set to 26119818
Phenotypes for gene: TWIST2 were set to ABLEPHARON MACROSTOMIA SYNDROME 200110
DDG2P v0.1 TWIST1 Rebecca Foulger gene: TWIST1 was added
gene: TWIST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TWIST1 were set to 8988167; 9259286; 8988166
Phenotypes for gene: TWIST1 were set to SAETHRE-CHOTZEN SYNDROME 101400
DDG2P v0.1 TUFM Rebecca Foulger gene: TUFM was added
gene: TUFM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUFM were set to 17160893
Phenotypes for gene: TUFM were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678
Mode of pathogenicity for gene: TUFM was set to Other - please provide details in the comments
DDG2P v0.1 TUBGCP6 Rebecca Foulger gene: TUBGCP6 was added
gene: TUBGCP6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP6 were set to 22279524
Phenotypes for gene: TUBGCP6 were set to MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270
DDG2P v0.1 TUBGCP4 Rebecca Foulger gene: TUBGCP4 was added
gene: TUBGCP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP4 were set to 25817018
Phenotypes for gene: TUBGCP4 were set to AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
DDG2P v0.1 TUBG1 Rebecca Foulger gene: TUBG1 was added
gene: TUBG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBG1 were set to 23603762
Phenotypes for gene: TUBG1 were set to Posteriorly predominant pachygyria and severe microcephaly
Mode of pathogenicity for gene: TUBG1 was set to Other - please provide details in the comments
DDG2P v0.1 TUBB4A Rebecca Foulger gene: TUBB4A was added
gene: TUBB4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to 23582646
Phenotypes for gene: TUBB4A were set to HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM
Mode of pathogenicity for gene: TUBB4A was set to Other - please provide details in the comments
DDG2P v0.1 TUBB3 Rebecca Foulger Added phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039 for gene: TUBB3
Publications for gene TUBB3 were changed from 20074521 to 20829227
DDG2P v0.1 TUBB3 Rebecca Foulger gene: TUBB3 was added
gene: TUBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB3 were set to 20074521
Phenotypes for gene: TUBB3 were set to CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638
Mode of pathogenicity for gene: TUBB3 was set to Other - please provide details in the comments
DDG2P v0.1 TUBB2B Rebecca Foulger gene: TUBB2B was added
gene: TUBB2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2B were set to 19465910; 22333901
Phenotypes for gene: TUBB2B were set to POLYMICROGYRIA ASYMMETRIC 610031
Mode of pathogenicity for gene: TUBB2B was set to Other - please provide details in the comments
DDG2P v0.1 TUBB2A Rebecca Foulger gene: TUBB2A was added
gene: TUBB2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB2A were set to 24702957
Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763
Mode of pathogenicity for gene: TUBB2A was set to Other - please provide details in the comments
DDG2P v0.1 TUBB Rebecca Foulger gene: TUBB was added
gene: TUBB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB were set to 23246003
Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771
Mode of pathogenicity for gene: TUBB was set to Other - please provide details in the comments
DDG2P v0.1 TUBA8 Rebecca Foulger gene: TUBA8 was added
gene: TUBA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBA8 were set to 19896110
Phenotypes for gene: TUBA8 were set to POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180
DDG2P v0.1 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 17444505
Phenotypes for gene: TTN were set to CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705
DDG2P v0.1 TTI2 Rebecca Foulger gene: TTI2 was added
gene: TTI2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTI2 were set to 21937992
Phenotypes for gene: TTI2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: TTI2 was set to Other - please provide details in the comments
DDG2P v0.1 TTC25 Rebecca Foulger gene: TTC25 was added
gene: TTC25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC25 were set to 27486780
Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
DDG2P v0.1 TSHR Rebecca Foulger Added phenotypes HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373 for gene: TSHR
Publications for gene TSHR were changed from 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579 to 9854118
DDG2P v0.1 TSHR Rebecca Foulger gene: TSHR was added
gene: TSHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSHR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TSHR were set to 9329388; 7528344; 11095460; 9185526; 8954020; 10720030; 9589691; 12050212; 9100579
Phenotypes for gene: TSHR were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200
Mode of pathogenicity for gene: TSHR was set to Other - please provide details in the comments
DDG2P v0.1 TSHB Rebecca Foulger gene: TSHB was added
gene: TSHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSHB were set to 2792087
Phenotypes for gene: TSHB were set to HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100
DDG2P v0.1 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Mode of pathogenicity for gene: TSEN34 was set to Other - please provide details in the comments
DDG2P v0.1 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
Mode of pathogenicity for gene: TSEN2 was set to Other - please provide details in the comments
DDG2P v0.1 TSEN15 Rebecca Foulger gene: TSEN15 was added
gene: TSEN15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TSEN15 were set to 27392077
Phenotypes for gene: TSEN15 were set to Pontocerebellar Hypoplasia and Progressive Microcephaly
Mode of pathogenicity for gene: TSEN15 was set to Other - please provide details in the comments
DDG2P v0.1 TRPV4 Rebecca Foulger gene: TRPV4 was added
gene: TRPV4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPV4 were set to 20577006; 19232556
Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252
Mode of pathogenicity for gene: TRPV4 was set to Other - please provide details in the comments
DDG2P v0.1 TRPV3 Rebecca Foulger gene: TRPV3 was added
gene: TRPV3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRPV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPV3 were set to 22405088
Phenotypes for gene: TRPV3 were set to OLMSTED SYNDROME 614594
Mode of pathogenicity for gene: TRPV3 was set to Other - please provide details in the comments
DDG2P v0.1 TRMT10C Rebecca Foulger gene: TRMT10C was added
gene: TRMT10C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT10C were set to 27132592
Phenotypes for gene: TRMT10C were set to Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Mode of pathogenicity for gene: TRMT10C was set to Other - please provide details in the comments
DDG2P v0.1 TRIT1 Rebecca Foulger gene: TRIT1 was added
gene: TRIT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIT1 were set to 24901367
Phenotypes for gene: TRIT1 were set to tRNA isopentenyltransferase deficiency
Mode of pathogenicity for gene: TRIT1 was set to Other - please provide details in the comments
DDG2P v0.1 TRIP12 Rebecca Foulger gene: TRIP12 was added
gene: TRIP12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIP12 were set to 28251352; 27848077
Phenotypes for gene: TRIP12 were set to TRIP12-related intellectual disability with/without autism spectrum disorder
DDG2P v0.1 TRIO Rebecca Foulger gene: TRIO was added
gene: TRIO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRIO were set to 26235986
Phenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: TRIO was set to Other - please provide details in the comments
DDG2P v0.1 TRAPPC12 Rebecca Foulger gene: TRAPPC12 was added
gene: TRAPPC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC12 was set to
Publications for gene: TRAPPC12 were set to 28777934
Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction
DDG2P v0.1 TRAF7 Rebecca Foulger gene: TRAF7 was added
gene: TRAF7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRAF7 were set to 29961569
Phenotypes for gene: TRAF7 were set to Developmental delay, congenital malformations and dysmorphism
Mode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments
DDG2P v0.1 TPM2 Rebecca Foulger gene: TPM2 was added
gene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TPM2 were set to 12592607
Phenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1
Mode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments
DDG2P v0.1 TP63 Rebecca Foulger Added phenotypes ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285 for gene: TP63
Publications for gene TP63 were changed from 16740912; 12939657; 14684701; 17609671; 12766194 to 11528512; 11929852; 16114047; 19530185; 16724007
DDG2P v0.1 TMEM70 Rebecca Foulger gene: TMEM70 was added
gene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM70 were set to 18953340; 21147908
Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052
DDG2P v0.1 TMEM67 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 11 613550 for gene: TMEM67
Publications for gene TMEM67 were changed from 17377820; 16415887 to 19508969
DDG2P v0.1 TMEM216 Rebecca Foulger gene: TMEM216 was added
gene: TMEM216 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to 20036350; 20512146
Phenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 608091
Mode of pathogenicity for gene: TMEM216 was set to Other - please provide details in the comments
DDG2P v0.1 TMEM135 Rebecca Foulger gene: TMEM135 was added
gene: TMEM135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM135 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM135 were set to 21937992
Phenotypes for gene: TMEM135 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: TMEM135 was set to Other - please provide details in the comments
DDG2P v0.1 TLL1 Rebecca Foulger gene: TLL1 was added
gene: TLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TLL1 were set to 18830233
Phenotypes for gene: TLL1 were set to ATRIAL SEPTAL DEFECT TYPE 6 613087
Mode of pathogenicity for gene: TLL1 was set to Other - please provide details in the comments
DDG2P v0.1 TK2 Rebecca Foulger gene: TK2 was added
gene: TK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276
Mode of pathogenicity for gene: TK2 was set to Other - please provide details in the comments
DDG2P v0.1 TINF2 Rebecca Foulger gene: TINF2 was added
gene: TINF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TINF2 were set to 18252230
Phenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE
DDG2P v0.1 THRA Rebecca Foulger gene: THRA was added
gene: THRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: THRA were set to 22168587; 22494134
Phenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450
DDG2P v0.1 THOC6 Rebecca Foulger gene: THOC6 was added
gene: THOC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THOC6 were set to 27295358; 23621916; 26739162
Phenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome
DDG2P v0.1 THOC2 Rebecca Foulger gene: THOC2 was added
gene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: THOC2 were set to 26166480
Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957
Mode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments
DDG2P v0.1 THAP1 Rebecca Foulger gene: THAP1 was added
gene: THAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION 602629
DDG2P v0.1 TH Rebecca Foulger gene: TH was added
gene: TH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to 17696123; 8528210; 7814018; 9703425; 10585338; 21937992; 8817341; 9732974; 11246459
Phenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA 605407
DDG2P v0.1 TGFBR1 Rebecca Foulger Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 for gene: TGFBR1
Publications for gene TGFBR1 were changed from 16596670; 15731757 to 16791849; 16928994; 18070134
DDG2P v0.1 TGFBR1 Rebecca Foulger gene: TGFBR1 was added
gene: TGFBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFBR1 were set to 16791849; 16928994; 18070134
Phenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A 608967
Mode of pathogenicity for gene: TGFBR1 was set to Other - please provide details in the comments
DDG2P v0.1 TGFB1 Rebecca Foulger gene: TGFB1 was added
gene: TGFB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB1 were set to 10973241; 15103729; 11062463
Phenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE 131300
Mode of pathogenicity for gene: TGFB1 was set to Other - please provide details in the comments
DDG2P v0.1 TFRC Rebecca Foulger gene: TFRC was added
gene: TFRC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFRC were set to 26642240
Phenotypes for gene: TFRC were set to Combined immunodeficiency
Mode of pathogenicity for gene: TFRC was set to Other - please provide details in the comments
DDG2P v0.1 TFAP2B Rebecca Foulger gene: TFAP2B was added
gene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TFAP2B were set to 11505339; 10802654; 7645594
Phenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100
Mode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments
DDG2P v0.1 TFAP2A Rebecca Foulger gene: TFAP2A was added
gene: TFAP2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME 113620
Mode of pathogenicity for gene: TFAP2A was set to Other - please provide details in the comments
DDG2P v0.1 TERT Rebecca Foulger gene: TERT was added
gene: TERT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERT were set to 17785587
Phenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4
Mode of pathogenicity for gene: TERT was set to Other - please provide details in the comments
DDG2P v0.1 TELO2 Rebecca Foulger gene: TELO2 was added
gene: TELO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TELO2 were set to 27132593
Phenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder
Mode of pathogenicity for gene: TELO2 was set to Other - please provide details in the comments
DDG2P v0.1 TEK Rebecca Foulger gene: TEK was added
gene: TEK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TEK were set to 19888299; 7833915; 10369874
Phenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195
Mode of pathogenicity for gene: TEK was set to Other - please provide details in the comments
DDG2P v0.1 TDRD7 Rebecca Foulger gene: TDRD7 was added
gene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887
Mode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments
DDG2P v0.1 TBXAS1 Rebecca Foulger gene: TBXAS1 was added
gene: TBXAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME 231095
Mode of pathogenicity for gene: TBXAS1 was set to Other - please provide details in the comments
DDG2P v0.1 TBL1XR1 Rebecca Foulger gene: TBL1XR1 was added
gene: TBL1XR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBL1XR1 were set to 23160955; 25425123
Phenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder
DDG2P v0.1 TBCK Rebecca Foulger gene: TBCK was added
gene: TBCK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCK were set to 27040692; 27748029; 27040691
Phenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy
DDG2P v0.1 TBCE Rebecca Foulger Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE
Publications for gene TBCE were changed from 12389028 to 27666369
DDG2P v0.1 TBCE Rebecca Foulger Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410 for gene: TBCE
DDG2P v0.1 TBCD Rebecca Foulger gene: TBCD was added
gene: TBCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCD were set to 27666374; 27666370
Phenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy
DDG2P v0.1 TAZ Rebecca Foulger gene: TAZ was added
gene: TAZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAZ were set to 8630491
Phenotypes for gene: TAZ were set to BARTH SYNDROME 302060
DDG2P v0.1 TAPT1 Rebecca Foulger gene: TAPT1 was added
gene: TAPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA
DDG2P v0.1 TANGO2 Rebecca Foulger gene: TANGO2 was added
gene: TANGO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TANGO2 were set to 26805782; 26805781
Phenotypes for gene: TANGO2 were set to Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
DDG2P v0.1 TAF2 Rebecca Foulger gene: TAF2 was added
gene: TAF2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF2 were set to 21937992
Phenotypes for gene: TAF2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: TAF2 was set to Other - please provide details in the comments
DDG2P v0.1 TAF13 Rebecca Foulger gene: TAF13 was added
gene: TAF13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF13 were set to 28257693
Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
Mode of pathogenicity for gene: TAF13 was set to Other - please provide details in the comments
DDG2P v0.1 TACR3 Rebecca Foulger gene: TACR3 was added
gene: TACR3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACR3 were set to 19079066
Phenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110
Mode of pathogenicity for gene: TACR3 was set to Other - please provide details in the comments
DDG2P v0.1 TAC3 Rebecca Foulger gene: TAC3 was added
gene: TAC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAC3 were set to 19079066
Phenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM 146110
Mode of pathogenicity for gene: TAC3 was set to Other - please provide details in the comments
DDG2P v0.1 TAB2 Rebecca Foulger gene: TAB2 was added
gene: TAB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAB2 were set to 27479907; 20493459
Phenotypes for gene: TAB2 were set to CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863
Mode of pathogenicity for gene: TAB2 was set to Other - please provide details in the comments
DDG2P v0.1 SZT2 Rebecca Foulger gene: SZT2 was added
gene: SZT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SZT2 were set to 23932106
Phenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM
DDG2P v0.1 SYT1 Rebecca Foulger gene: SYT1 was added
gene: SYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYT1 were set to 25705886
Phenotypes for gene: SYT1 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: SYT1 was set to Other - please provide details in the comments
DDG2P v0.1 SYNGAP1 Rebecca Foulger gene: SYNGAP1 was added
gene: SYNGAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SYNGAP1 were set to 23708187
Phenotypes for gene: SYNGAP1 were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 SYN1 Rebecca Foulger gene: SYN1 was added
gene: SYN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927
DDG2P v0.1 SUFU Rebecca Foulger gene: SUFU was added
gene: SUFU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUFU were set to 28965847
Phenotypes for gene: SUFU were set to Joubert Syndrome with Cranio-facial and Skeletal Defects
Mode of pathogenicity for gene: SUFU was set to Other - please provide details in the comments
DDG2P v0.1 STXBP1 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164 for gene: STXBP1
Publications for gene STXBP1 were changed from to 18469812; 19557857
DDG2P v0.1 STX1B Rebecca Foulger gene: STX1B was added
gene: STX1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STX1B were set to 25362483
Phenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172
DDG2P v0.1 STT3A Rebecca Foulger gene: STT3A was added
gene: STT3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 23842455
Phenotypes for gene: STT3A were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596
Mode of pathogenicity for gene: STT3A was set to Other - please provide details in the comments
DDG2P v0.1 STS Rebecca Foulger gene: STS was added
gene: STS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: STS were set to 3032454; 9252398; 1539590
Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED 308100
DDG2P v0.1 STRA6 Rebecca Foulger gene: STRA6 was added
gene: STRA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 17503335; 17273977; 21901792; 11857549; 19839040
Phenotypes for gene: STRA6 were set to MICROPHTHALMIA SYNDROMIC TYPE 9 601186
DDG2P v0.1 STN1 Rebecca Foulger gene: STN1 was added
gene: STN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcifications and cysts 2
DDG2P v0.1 STIM1 Rebecca Foulger gene: STIM1 was added
gene: STIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STIM1 were set to 23332920
Phenotypes for gene: STIM1 were set to TUBULAR-AGGREGATE MYOPATHY 160565
Mode of pathogenicity for gene: STIM1 was set to Other - please provide details in the comments
DDG2P v0.1 STAT5B Rebecca Foulger gene: STAT5B was added
gene: STAT5B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAT5B were set to 13679528
Phenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590
DDG2P v0.1 STAT2 Rebecca Foulger gene: STAT2 was added
gene: STAT2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAT2 were set to 26408653; 26122121
Phenotypes for gene: STAT2 were set to Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission
DDG2P v0.1 STAG2 Rebecca Foulger gene: STAG2 was added
gene: STAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STAG2 were set to 30158690; 29263825; 28296084
Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies
DDG2P v0.1 ST3GAL3 Rebecca Foulger gene: ST3GAL3 was added
gene: ST3GAL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST3GAL3 were set to 21907012; 17120046
Phenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090
Mode of pathogenicity for gene: ST3GAL3 was set to Other - please provide details in the comments
DDG2P v0.1 ST14 Rebecca Foulger gene: ST14 was added
gene: ST14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ST14 were set to 18445049; 17273967
Phenotypes for gene: ST14 were set to ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765
Mode of pathogenicity for gene: ST14 was set to Other - please provide details in the comments
DDG2P v0.1 SRPX2 Rebecca Foulger gene: SRPX2 was added
gene: SRPX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SRPX2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPX2 were set to 16497722
Phenotypes for gene: SRPX2 were set to ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643
Mode of pathogenicity for gene: SRPX2 was set to Other - please provide details in the comments
DDG2P v0.1 SRP54 Rebecca Foulger gene: SRP54 was added
gene: SRP54 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRP54 were set to 28972538
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
Mode of pathogenicity for gene: SRP54 was set to Other - please provide details in the comments
DDG2P v0.1 SRCAP Rebecca Foulger gene: SRCAP was added
gene: SRCAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRCAP were set to 20358590; 22265015
Phenotypes for gene: SRCAP were set to FLOATING-HARBOR SYNDROME 136140
Mode of pathogenicity for gene: SRCAP was set to Other - please provide details in the comments
DDG2P v0.1 SPTLC2 Rebecca Foulger gene: SPTLC2 was added
gene: SPTLC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPTLC2 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC 613640
Mode of pathogenicity for gene: SPTLC2 was set to Other - please provide details in the comments
DDG2P v0.1 SPTAN1 Rebecca Foulger gene: SPTAN1 was added
gene: SPTAN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTAN1 were set to 22258530; 20493457
Phenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477
Mode of pathogenicity for gene: SPTAN1 was set to Other - please provide details in the comments
DDG2P v0.1 SPRTN Rebecca Foulger gene: SPRTN was added
gene: SPRTN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPRTN were set to PROGEROID SYNDROME
Mode of pathogenicity for gene: SPRTN was set to Other - please provide details in the comments
DDG2P v0.1 SPEG Rebecca Foulger gene: SPEG was added
gene: SPEG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEG were set to 25087613
Phenotypes for gene: SPEG were set to CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959
DDG2P v0.1 SPECC1L Rebecca Foulger gene: SPECC1L was added
gene: SPECC1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPECC1L were set to 2541274; 21703590
Phenotypes for gene: SPECC1L were set to FACIAL CLEFTING, OBLIQUE, 1 600251
Mode of pathogenicity for gene: SPECC1L was set to Other - please provide details in the comments
DDG2P v0.1 SPARC Rebecca Foulger gene: SPARC was added
gene: SPARC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPARC were set to 26027498
Phenotypes for gene: SPARC were set to OSTEOGENESIS IMPERFECTA, TYPE XVII 616507
Mode of pathogenicity for gene: SPARC was set to Other - please provide details in the comments
DDG2P v0.1 SPAG1 Rebecca Foulger gene: SPAG1 was added
gene: SPAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG1 were set to 24055112
Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.
DDG2P v0.1 SOX5 Rebecca Foulger gene: SOX5 was added
gene: SOX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX5 were set to 22290657
Phenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY
DDG2P v0.1 SOX3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123 for gene: SOX3
Publications for gene SOX3 were changed from to 8826446
DDG2P v0.1 SOX3 Rebecca Foulger gene: SOX3 was added
gene: SOX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX3 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: SOX3 were set to SEX REVERSAL TYPE 3 300833
DDG2P v0.1 SOX2 Rebecca Foulger Added phenotypes MICROPHTHALMIA SYNDROMIC TYPE 3 206900 for gene: SOX2
Publications for gene SOX2 were changed from to 12612584; 21326281; 15346919; 21919124; 16145681; 15389708; 18831064; 19254784; 15812812; 16470798; 12002146; 16543359; 16932809; 16283891
DDG2P v0.1 SOX17 Rebecca Foulger gene: SOX17 was added
gene: SOX17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX17 were set to 20960469
Phenotypes for gene: SOX17 were set to VESICOURETERAL REFLUX TYPE 3 613674
Mode of pathogenicity for gene: SOX17 was set to Other - please provide details in the comments
DDG2P v0.1 SOX11 Rebecca Foulger gene: SOX11 was added
gene: SOX11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX11 were set to 24886874; 26543203
Phenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866
Mode of pathogenicity for gene: SOX11 was set to Other - please provide details in the comments
DDG2P v0.1 SOX10 Rebecca Foulger Added phenotypes KALLMANN SYNDROME WITH DEAFNESS for gene: SOX10
Publications for gene SOX10 were changed from 8911608; 18627047; 19208381; 21965087; 18348267; 20478267; 17999358 to 23643381
DDG2P v0.1 SOX10 Rebecca Foulger gene: SOX10 was added
gene: SOX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX10 were set to 19764030; 10482261; 10762540; 11026454; 12447940
Phenotypes for gene: SOX10 were set to PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136
DDG2P v0.1 SOS1 Rebecca Foulger gene: SOS1 was added
gene: SOS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 19438935; 17143285; 18925667
Phenotypes for gene: SOS1 were set to NOONAN SYNDROME 4 610733
Mode of pathogenicity for gene: SOS1 was set to Other - please provide details in the comments
DDG2P v0.1 SON Rebecca Foulger gene: SON was added
gene: SON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SON were set to 27545680; 27545676
Phenotypes for gene: SON were set to Intellectual Disability, Congenital Malformations, and Failure to Thrive
DDG2P v0.1 SNX3 Rebecca Foulger gene: SNX3 was added
gene: SNX3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SNX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNX3 were set to 12471201
Phenotypes for gene: SNX3 were set to MICROPHTHALMIA SYNDROMIC TYPE 8 601349
DDG2P v0.1 SNRPE Rebecca Foulger gene: SNRPE was added
gene: SNRPE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNRPE were set to 23246290; 9621144
Phenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059
Mode of pathogenicity for gene: SNRPE was set to Other - please provide details in the comments
DDG2P v0.1 SNORD118 Rebecca Foulger gene: SNORD118 was added
gene: SNORD118 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNORD118 were set to 27793341; 27571260
Phenotypes for gene: SNORD118 were set to Leukoencephalopathy with cerebral calcification & cysts
DDG2P v0.1 SNIP1 Rebecca Foulger gene: SNIP1 was added
gene: SNIP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNIP1 were set to 22279524
Phenotypes for gene: SNIP1 were set to SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501
Mode of pathogenicity for gene: SNIP1 was set to Other - please provide details in the comments
DDG2P v0.1 SNAP25 Rebecca Foulger gene: SNAP25 was added
gene: SNAP25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SNAP25 were set to 29100083
Phenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability
Mode of pathogenicity for gene: SNAP25 was set to Other - please provide details in the comments
DDG2P v0.1 SMOC2 Rebecca Foulger gene: SMOC2 was added
gene: SMOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC2 were set to 22152679
Phenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH 125400
DDG2P v0.1 SMOC1 Rebecca Foulger gene: SMOC1 was added
gene: SMOC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMOC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMOC1 were set to 19208380; 21194678
Phenotypes for gene: SMOC1 were set to OPHTHALMOACROMELIC SYNDROME 206920
DDG2P v0.1 SMO Rebecca Foulger gene: SMO was added
gene: SMO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMO were set to Curry-Jones Syndrome
Mode of pathogenicity for gene: SMO was set to Other - please provide details in the comments
DDG2P v0.1 SMCHD1 Rebecca Foulger gene: SMCHD1 was added
gene: SMCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMCHD1 were set to 28067909; 28067911
Phenotypes for gene: SMCHD1 were set to Isolated Arhinia/Bosma Arhinia syndrome
Mode of pathogenicity for gene: SMCHD1 was set to Other - please provide details in the comments
DDG2P v0.1 SMC3 Rebecca Foulger gene: SMC3 was added
gene: SMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMC3 were set to 25125236; 25655089
Phenotypes for gene: SMC3 were set to CORNELIA DE LANGE SYNDROME TYPE 3 610759
Mode of pathogenicity for gene: SMC3 was set to Other - please provide details in the comments
DDG2P v0.1 SMC1A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: SMC1A
DDG2P v0.1 SMC1A Rebecca Foulger gene: SMC1A was added
gene: SMC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
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)
Publications for gene: SMC1A were set to 20635401; 17273969; 22106055; 16604071
Phenotypes for gene: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2 300590
DDG2P v0.1 SMARCE1 Rebecca Foulger gene: SMARCE1 was added
gene: SMARCE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCE1 were set to 22426308
Phenotypes for gene: SMARCE1 were set to COFFIN SIRIS 135900
Mode of pathogenicity for gene: SMARCE1 was set to Other - please provide details in the comments
DDG2P v0.1 SMARCA2 Rebecca Foulger gene: SMARCA2 was added
gene: SMARCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCA2 were set to 22426308
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS 135900
Mode of pathogenicity for gene: SMARCA2 was set to Other - please provide details in the comments
DDG2P v0.1 SLC6A9 Rebecca Foulger gene: SLC6A9 was added
gene: SLC6A9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A9 were set to 27773429
Phenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis
DDG2P v0.1 SLC6A17 Rebecca Foulger gene: SLC6A17 was added
gene: SLC6A17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A17 were set to 25704603
Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269
Mode of pathogenicity for gene: SLC6A17 was set to Other - please provide details in the comments
DDG2P v0.1 SLC6A1 Rebecca Foulger gene: SLC6A1 was added
gene: SLC6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC6A1 were set to 25865495
Phenotypes for gene: SLC6A1 were set to EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES
DDG2P v0.1 SLC5A7 Rebecca Foulger gene: SLC5A7 was added
gene: SLC5A7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A7 were set to 27569547
Phenotypes for gene: SLC5A7 were set to Congenital Myasthenic Syndrome with Episodic Apnea
Mode of pathogenicity for gene: SLC5A7 was set to Other - please provide details in the comments
DDG2P v0.1 SLC5A5 Rebecca Foulger gene: SLC5A5 was added
gene: SLC5A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A5 were set to 9388506; 9745458; 3998954; 9486973; 3451231; 9171822
Phenotypes for gene: SLC5A5 were set to THYROID HORMONOGENESIS DEFECT I 274400
DDG2P v0.1 SLC4A4 Rebecca Foulger gene: SLC4A4 was added
gene: SLC4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A4 were set to 10545938; 11274232
Phenotypes for gene: SLC4A4 were set to PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278
DDG2P v0.1 SLC4A11 Rebecca Foulger gene: SLC4A11 was added
gene: SLC4A11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268
DDG2P v0.1 SLC4A1 Rebecca Foulger gene: SLC4A1 was added
gene: SLC4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800
Mode of pathogenicity for gene: SLC4A1 was set to Other - please provide details in the comments
DDG2P v0.1 SLC45A1 Rebecca Foulger gene: SLC45A1 was added
gene: SLC45A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC45A1 were set to 28434495
Phenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy
Mode of pathogenicity for gene: SLC45A1 was set to Other - please provide details in the comments
DDG2P v0.1 SLC39A8 Rebecca Foulger gene: SLC39A8 was added
gene: SLC39A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A8 were set to 26637978; 26637979
Phenotypes for gene: SLC39A8 were set to Intellectual Disability with Cerebellar Atrophy
Mode of pathogenicity for gene: SLC39A8 was set to Other - please provide details in the comments
DDG2P v0.1 SLC39A13 Rebecca Foulger gene: SLC39A13 was added
gene: SLC39A13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC39A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668
DDG2P v0.1 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
DDG2P v0.1 SLC31A1 Rebecca Foulger gene: SLC31A1 was added
gene: SLC31A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC31A1 were set to 21937992
Phenotypes for gene: SLC31A1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: SLC31A1 was set to Other - please provide details in the comments
DDG2P v0.1 SLC27A4 Rebecca Foulger gene: SLC27A4 was added
gene: SLC27A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC27A4 were set to ICHTHYOSIS PREMATURITY SYNDROME 608649
DDG2P v0.1 SLC25A4 Rebecca Foulger gene: SLC25A4 was added
gene: SLC25A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A4 were set to 27693233
Phenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Mode of pathogenicity for gene: SLC25A4 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A26 Rebecca Foulger gene: SLC25A26 was added
gene: SLC25A26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A26 were set to 26522469
Phenotypes for gene: SLC25A26 were set to INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY
DDG2P v0.1 SLC25A24 Rebecca Foulger gene: SLC25A24 was added
gene: SLC25A24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC25A24 were set to 29100094; 29100093
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Mode of pathogenicity for gene: SLC25A24 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A22 Rebecca Foulger gene: SLC25A22 was added
gene: SLC25A22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213
Mode of pathogenicity for gene: SLC25A22 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A19 Rebecca Foulger gene: SLC25A19 was added
gene: SLC25A19 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A19 were set to 12185364
Phenotypes for gene: SLC25A19 were set to AMISH LETHAL MICROCEPHALY 216535
Mode of pathogenicity for gene: SLC25A19 was set to Other - please provide details in the comments
DDG2P v0.1 SLC25A15 Rebecca Foulger gene: SLC25A15 was added
gene: SLC25A15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A15 were set to 10369256; 16940241; 11355015; 19242930; 11552031
Phenotypes for gene: SLC25A15 were set to HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970
DDG2P v0.1 SLC1A2 Rebecca Foulger gene: SLC1A2 was added
gene: SLC1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC1A2 were set to 28777935; 27476654
Phenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: SLC1A2 was set to Other - please provide details in the comments
DDG2P v0.1 SLC19A3 Rebecca Foulger gene: SLC19A3 was added
gene: SLC19A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A3 were set to 19387023; 15871139; 20065143
Phenotypes for gene: SLC19A3 were set to THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483
DDG2P v0.1 SLC16A2 Rebecca Foulger gene: SLC16A2 was added
gene: SLC16A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to 15488219; 1605231; 8484404; 14661163; 15889350
Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523
DDG2P v0.1 SLC13A5 Rebecca Foulger gene: SLC13A5 was added
gene: SLC13A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A5 were set to 24995870; 26384929
Phenotypes for gene: SLC13A5 were set to EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE
DDG2P v0.1 SLC12A6 Rebecca Foulger gene: SLC12A6 was added
gene: SLC12A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912
Phenotypes for gene: SLC12A6 were set to AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000
DDG2P v0.1 SLC12A5 Rebecca Foulger gene: SLC12A5 was added
gene: SLC12A5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC12A5 were set to 24668262
Phenotypes for gene: SLC12A5 were set to FEBRILE SEIZURES
Mode of pathogenicity for gene: SLC12A5 was set to Other - please provide details in the comments
DDG2P v0.1 SKI Rebecca Foulger gene: SKI was added
gene: SKI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
Mode of pathogenicity for gene: SKI was set to Other - please provide details in the comments
DDG2P v0.1 SIX6 Rebecca Foulger gene: SIX6 was added
gene: SIX6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SIX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX6 were set to 15266624
Phenotypes for gene: SIX6 were set to MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550
Mode of pathogenicity for gene: SIX6 was set to Other - please provide details in the comments
DDG2P v0.1 SIX5 Rebecca Foulger gene: SIX5 was added
gene: SIX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX5 were set to 17357085
Phenotypes for gene: SIX5 were set to BRANCHIOOTORENAL SYNDROME TYPE 2 610896
Mode of pathogenicity for gene: SIX5 was set to Other - please provide details in the comments
DDG2P v0.1 SIK1 Rebecca Foulger gene: SIK1 was added
gene: SIK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIK1 were set to 25839329
Phenotypes for gene: SIK1 were set to NEONATAL EPILEPSY SPECTRUM
Mode of pathogenicity for gene: SIK1 was set to Other - please provide details in the comments
DDG2P v0.1 SHOX Rebecca Foulger gene: SHOX was added
gene: SHOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SHOX were set to 17935511; 9590292; 11889214; 12116254
Phenotypes for gene: SHOX were set to LANGER MESOMELIC DYSPLASIA 249700
DDG2P v0.1 SHOC2 Rebecca Foulger gene: SHOC2 was added
gene: SHOC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHOC2 were set to 19684605
Phenotypes for gene: SHOC2 were set to NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721
Mode of pathogenicity for gene: SHOC2 was set to Other - please provide details in the comments
DDG2P v0.1 SHH Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638 for gene: SHH
Publications for gene SHH were changed from to 12503095
DDG2P v0.1 SHH Rebecca Foulger gene: SHH was added
gene: SHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHH were set to TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500
DDG2P v0.1 SH3BP2 Rebecca Foulger gene: SH3BP2 was added
gene: SH3BP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SH3BP2 were set to 11381256
Phenotypes for gene: SH3BP2 were set to Cherubism
Mode of pathogenicity for gene: SH3BP2 was set to Other - please provide details in the comments
DDG2P v0.1 SETD2 Rebecca Foulger gene: SETD2 was added
gene: SETD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD2 were set to 24852293; 27317772
Phenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome
DDG2P v0.1 SECISBP2 Rebecca Foulger gene: SECISBP2 was added
gene: SECISBP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SECISBP2 were set to 16228000
Phenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL 609698
DDG2P v0.1 SEC61A1 Rebecca Foulger gene: SEC61A1 was added
gene: SEC61A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SEC61A1 were set to Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
Mode of pathogenicity for gene: SEC61A1 was set to Other - please provide details in the comments
DDG2P v0.1 SEC23B Rebecca Foulger gene: SEC23B was added
gene: SEC23B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23B were set to 19561605; 19621418
Phenotypes for gene: SEC23B were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100
DDG2P v0.1 SEC23A Rebecca Foulger gene: SEC23A was added
gene: SEC23A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC23A were set to 16980979
Phenotypes for gene: SEC23A were set to CRANIOLENTICULOSUTURAL DYSPLASIA 607812
Mode of pathogenicity for gene: SEC23A was set to Other - please provide details in the comments
DDG2P v0.1 SDHAF1 Rebecca Foulger gene: SDHAF1 was added
gene: SDHAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY 252011
Mode of pathogenicity for gene: SDHAF1 was set to Other - please provide details in the comments
DDG2P v0.1 SDHA Rebecca Foulger gene: SDHA was added
gene: SDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHA were set to LEIGH SYNDROME 256000
Mode of pathogenicity for gene: SDHA was set to Other - please provide details in the comments
DDG2P v0.1 SCYL1 Rebecca Foulger gene: SCYL1 was added
gene: SCYL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL1 were set to 26581903
Phenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
DDG2P v0.1 SCO2 Rebecca Foulger gene: SCO2 was added
gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243
Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377
DDG2P v0.1 SCN8A Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 for gene: SCN8A
Publications for gene SCN8A were changed from 16236810 to 22365152
DDG2P v0.1 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN8A were set to 16236810
Phenotypes for gene: SCN8A were set to COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306
DDG2P v0.1 SCN4A Rebecca Foulger gene: SCN4A was added
gene: SCN4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN4A were set to 16890191; 10851391; 10599760; 10944223; 11591859
Phenotypes for gene: SCN4A were set to HYPOKALEMIC PERIODIC PARALYSIS 613345
Mode of pathogenicity for gene: SCN4A was set to Other - please provide details in the comments
DDG2P v0.1 SCN3A Rebecca Foulger gene: SCN3A was added
gene: SCN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN3A were set to 18242854; 24157691
Phenotypes for gene: SCN3A were set to Focal epilepsy
Mode of pathogenicity for gene: SCN3A was set to Other - please provide details in the comments
DDG2P v0.1 SCN2A Rebecca Foulger Added phenotypes INFANTILE EPILEPTIC ENCEPHALOPATHY for gene: SCN2A
Publications for gene SCN2A were changed from to 26291284; 23935176
DDG2P v0.1 SCN1B Rebecca Foulger gene: SCN1B was added
gene: SCN1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN1B were set to 9697698
Phenotypes for gene: SCN1B were set to EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233
DDG2P v0.1 SCN11A Rebecca Foulger gene: SCN11A was added
gene: SCN11A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN11A were set to 24036948
Phenotypes for gene: SCN11A were set to CONGENITAL INABILITY TO EXPERIENCE PAIN
Mode of pathogenicity for gene: SCN11A was set to Other - please provide details in the comments
DDG2P v0.1 SC5D Rebecca Foulger gene: SC5D was added
gene: SC5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to LATHOSTEROLOSIS 607330
Mode of pathogenicity for gene: SC5D was set to Other - please provide details in the comments
DDG2P v0.1 SAMD9L Rebecca Foulger gene: SAMD9L was added
gene: SAMD9L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SAMD9L were set to 27259050
Phenotypes for gene: SAMD9L were set to Ataxia-Pancytopenia Syndrome
Mode of pathogenicity for gene: SAMD9L was set to Other - please provide details in the comments
DDG2P v0.1 RYR3 Rebecca Foulger gene: RYR3 was added
gene: RYR3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RYR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR3 were set to 25262651
Phenotypes for gene: RYR3 were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 RYR1 Rebecca Foulger gene: RYR1 was added
gene: RYR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to 20839240
Phenotypes for gene: RYR1 were set to MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320
DDG2P v0.1 RUBCN Rebecca Foulger gene: RUBCN was added
gene: RUBCN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RUBCN were set to SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY
Mode of pathogenicity for gene: RUBCN was set to Other - please provide details in the comments
DDG2P v0.1 RTTN Rebecca Foulger gene: RTTN was added
gene: RTTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTTN were set to 22939636; 29883675; 26608784
Phenotypes for gene: RTTN were set to BILATERAL DIFFUSE POLYMICROGYRIA 614833
Mode of pathogenicity for gene: RTTN was set to Other - please provide details in the comments
DDG2P v0.1 RTN4IP1 Rebecca Foulger gene: RTN4IP1 was added
gene: RTN4IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN4IP1 were set to 26593267
Phenotypes for gene: RTN4IP1 were set to EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
DDG2P v0.1 RSPO2 Rebecca Foulger gene: RSPO2 was added
gene: RSPO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720
Phenotypes for gene: RSPO2 were set to Tetra-amelia with lung agenesis
DDG2P v0.1 RSPH3 Rebecca Foulger gene: RSPH3 was added
gene: RSPH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPH3 were set to 26073779
Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS
DDG2P v0.1 RSPH1 Rebecca Foulger gene: RSPH1 was added
gene: RSPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPH1 were set to 23993197
Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS
DDG2P v0.1 RRAS Rebecca Foulger gene: RRAS was added
gene: RRAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAS were set to 24705357
Phenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME
Mode of pathogenicity for gene: RRAS was set to Other - please provide details in the comments
DDG2P v0.1 RPS6KA3 Rebecca Foulger gene: RPS6KA3 was added
gene: RPS6KA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RPS6KA3 were set to 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828
Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME 303600
DDG2P v0.1 RPS23 Rebecca Foulger gene: RPS23 was added
gene: RPS23 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS23 were set to 28257692
Phenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features
Mode of pathogenicity for gene: RPS23 was set to Other - please provide details in the comments
DDG2P v0.1 RPL11 Rebecca Foulger gene: RPL11 was added
gene: RPL11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPL11 was set to
Publications for gene: RPL11 were set to 19191325; 19061985; 19773262
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs
DDG2P v0.1 ROR2 Rebecca Foulger gene: ROR2 was added
gene: ROR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ROR2 were set to 10932186; 19640924; 15952209; 18831060; 10932187
Phenotypes for gene: ROR2 were set to ROR2-RELATED DISORDERS AR 268310
DDG2P v0.1 ROBO3 Rebecca Foulger gene: ROBO3 was added
gene: ROBO3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROBO3 were set to 16525029; 15105459
Phenotypes for gene: ROBO3 were set to FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313
DDG2P v0.1 RNU4ATAC Rebecca Foulger gene: RNU4ATAC was added
gene: RNU4ATAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU4ATAC were set to 17666473; 21474761; 22581640; 21474760
Phenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
Mode of pathogenicity for gene: RNU4ATAC was set to Other - please provide details in the comments
DDG2P v0.1 RNF113A Rebecca Foulger gene: RNF113A was added
gene: RNF113A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912
Phenotypes for gene: RNF113A were set to X-LINKED TRICHOTHIODYSTROPHY
DDG2P v0.1 RNASET2 Rebecca Foulger gene: RNASET2 was added
gene: RNASET2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASET2 were set to 19525954
Phenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951
DDG2P v0.1 RMND1 Rebecca Foulger gene: RMND1 was added
gene: RMND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMND1 were set to 23022099
Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT 614922
Mode of pathogenicity for gene: RMND1 was set to Other - please provide details in the comments
DDG2P v0.1 RLIM Rebecca Foulger gene: RLIM was added
gene: RLIM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RLIM were set to 25644381
Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: RLIM was set to Other - please provide details in the comments
DDG2P v0.1 RIT1 Rebecca Foulger gene: RIT1 was added
gene: RIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RIT1 were set to 23791108
Phenotypes for gene: RIT1 were set to NOONAN SYNDROME 8 615355
Mode of pathogenicity for gene: RIT1 was set to Other - please provide details in the comments
DDG2P v0.1 RIPK4 Rebecca Foulger gene: RIPK4 was added
gene: RIPK4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to 15264293; 22197488
Phenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650
DDG2P v0.1 RETREG1 Rebecca Foulger gene: RETREG1 was added
gene: RETREG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RETREG1 were set to 19838196
Phenotypes for gene: RETREG1 were set to NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115
DDG2P v0.1 RET Rebecca Foulger gene: RET was added
gene: RET was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to RENAL AGENESIS 191830
DDG2P v0.1 RECQL4 Rebecca Foulger Added phenotypes ROTHMUND-THOMSON SYNDROME 268400 for gene: RECQL4
Publications for gene RECQL4 were changed from 12952869 to 10319867; 9878247; 20503338; 12838562; 12734318; 10678659
DDG2P v0.1 RBPJ Rebecca Foulger gene: RBPJ was added
gene: RBPJ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBPJ were set to 22883147
Phenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME
Mode of pathogenicity for gene: RBPJ was set to Other - please provide details in the comments
DDG2P v0.1 RBM8A Rebecca Foulger gene: RBM8A was added
gene: RBM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM8A were set to 22366785
Phenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000
DDG2P v0.1 RBM28 Rebecca Foulger gene: RBM28 was added
gene: RBM28 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBM28 were set to 18439547
Phenotypes for gene: RBM28 were set to ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079
Mode of pathogenicity for gene: RBM28 was set to Other - please provide details in the comments
DDG2P v0.1 RAX Rebecca Foulger gene: RAX was added
gene: RAX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAX were set to 14662654; 18783408
Phenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 611038
DDG2P v0.1 RARB Rebecca Foulger Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB
DDG2P v0.1 RARB Rebecca Foulger gene: RARB was added
gene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RARB were set to 24075189
Phenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA
DDG2P v0.1 RAPSN Rebecca Foulger gene: RAPSN was added
gene: RAPSN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAPSN were set to 11791205
Phenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931
DDG2P v0.1 RANBP2 Rebecca Foulger gene: RANBP2 was added
gene: RANBP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RANBP2 were set to 19118815
Phenotypes for gene: RANBP2 were set to ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648
Mode of pathogenicity for gene: RANBP2 was set to Other - please provide details in the comments
DDG2P v0.1 RALGDS Rebecca Foulger gene: RALGDS was added
gene: RALGDS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RALGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGDS were set to 21937992
Phenotypes for gene: RALGDS were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: RALGDS was set to Other - please provide details in the comments
DDG2P v0.1 RAI1 Rebecca Foulger gene: RAI1 was added
gene: RAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME 182290
DDG2P v0.1 RAF1 Rebecca Foulger gene: RAF1 was added
gene: RAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAF1 were set to 17603483
Phenotypes for gene: RAF1 were set to NOONAN SYNDROME 5 611553
Mode of pathogenicity for gene: RAF1 was set to Other - please provide details in the comments
DDG2P v0.1 RAD51C Rebecca Foulger gene: RAD51C was added
gene: RAD51C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD51C were set to 20400963
Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390
Mode of pathogenicity for gene: RAD51C was set to Other - please provide details in the comments
DDG2P v0.1 RAD21 Rebecca Foulger gene: RAD21 was added
gene: RAD21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAD21 were set to 22633399
Phenotypes for gene: RAD21 were set to COHESINOPATHY 614701
DDG2P v0.1 RAC1 Rebecca Foulger gene: RAC1 was added
gene: RAC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAC1 were set to 28886345
Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes
Mode of pathogenicity for gene: RAC1 was set to Other - please provide details in the comments
DDG2P v0.1 RABL6 Rebecca Foulger gene: RABL6 was added
gene: RABL6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RABL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RABL6 were set to 21937992
Phenotypes for gene: RABL6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: RABL6 was set to Other - please provide details in the comments
DDG2P v0.1 RAB11B Rebecca Foulger gene: RAB11B was added
gene: RAB11B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB11B were set to 29106825
Phenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: RAB11B was set to Other - please provide details in the comments
DDG2P v0.1 RAB11A Rebecca Foulger gene: RAB11A was added
gene: RAB11A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB11A were set to 29100083
Phenotypes for gene: RAB11A were set to Epilepsy and intellectual disability
Mode of pathogenicity for gene: RAB11A was set to Other - please provide details in the comments
DDG2P v0.1 QARS Rebecca Foulger gene: QARS was added
gene: QARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QARS were set to 24656866
Phenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760
Mode of pathogenicity for gene: QARS was set to Other - please provide details in the comments
DDG2P v0.1 PYROXD1 Rebecca Foulger gene: PYROXD1 was added
gene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD1 were set to 27745833
Phenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
DDG2P v0.1 PYCR2 Rebecca Foulger gene: PYCR2 was added
gene: PYCR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR2 were set to 25865492
Phenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME
Mode of pathogenicity for gene: PYCR2 was set to Other - please provide details in the comments
DDG2P v0.1 PTS Rebecca Foulger gene: PTS was added
gene: PTS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTS were set to 10220141; 8178819; 9450907
Phenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640
DDG2P v0.1 PTPRF Rebecca Foulger gene: PTPRF was added
gene: PTPRF was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPRF were set to 24781087
Phenotypes for gene: PTPRF were set to ATHELIA
DDG2P v0.1 PTPN11 Rebecca Foulger gene: PTPN11 was added
gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100
Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments
DDG2P v0.1 PTHLH Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE E2 613382 for gene: PTHLH
Publications for gene PTHLH were changed from to 20170896
DDG2P v0.1 PTHLH Rebecca Foulger gene: PTHLH was added
gene: PTHLH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
DDG2P v0.1 PTH1R Rebecca Foulger Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 for gene: PTH1R
Publications for gene PTH1R were changed from 15525660 to 10523019; 17164305; 3975110; 9649554; 9745456
DDG2P v0.1 PTH1R Rebecca Foulger Added phenotypes EIKEN SKELETAL DYSPLASIA 600002 for gene: PTH1R
Publications for gene PTH1R were changed from 7701349; 10487664; 8703170; 15240651 to 15525660
DDG2P v0.1 PTH1R Rebecca Foulger Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400 for gene: PTH1R
Publications for gene PTH1R were changed from 19061984 to 7701349; 10487664; 8703170; 15240651
DDG2P v0.1 PTH1R Rebecca Foulger gene: PTH1R was added
gene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 19061984
Phenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350
DDG2P v0.1 PTH Rebecca Foulger gene: PTH was added
gene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800
Phenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200
DDG2P v0.1 PTF1A Rebecca Foulger gene: PTF1A was added
gene: PTF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTF1A were set to 10507728; 21749365; 15543146
Phenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069
DDG2P v0.1 PTEN Rebecca Foulger Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 for gene: PTEN
Publications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 11748304
DDG2P v0.1 PTDSS1 Rebecca Foulger gene: PTDSS1 was added
gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTDSS1 were set to 24241535
Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050
Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments
DDG2P v0.1 PSMB8 Rebecca Foulger gene: PSMB8 was added
gene: PSMB8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB8 were set to 21852578; 21881205; 21129723; 21953331
Phenotypes for gene: PSMB8 were set to NAKAJO SYNDROME 256040
Mode of pathogenicity for gene: PSMB8 was set to Other - please provide details in the comments
DDG2P v0.1 PRSS56 Rebecca Foulger gene: PRSS56 was added
gene: PRSS56 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRSS56 were set to 19526372; 21397065
Phenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6 613517
DDG2P v0.1 PRRX1 Rebecca Foulger Added phenotypes AGNATHIA-OTOCEPHALY COMPLEX 202650 for gene: PRRX1
DDG2P v0.1 PRRX1 Rebecca Foulger gene: PRRX1 was added
gene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRX1 were set to 22211708; 23444262
Phenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650
Mode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments
DDG2P v0.1 PRRT2 Rebecca Foulger Added phenotypes BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 for gene: PRRT2
Publications for gene PRRT2 were changed from 21937992 to 22543779; 22243967; 22744660
DDG2P v0.1 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PRRT2 were set to 21937992
Phenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 PRPS1 Rebecca Foulger Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 for gene: PRPS1
Publications for gene PRPS1 were changed from 10503584; 8968763; 15240907; 20021999 to 6243137; 171280; 7593598; 2423135
DDG2P v0.1 PRPS1 Rebecca Foulger gene: PRPS1 was added
gene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PRPS1 were set to 17701900
Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070
DDG2P v0.1 PRMT9 Rebecca Foulger gene: PRMT9 was added
gene: PRMT9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT9 were set to 21937992
Phenotypes for gene: PRMT9 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: PRMT9 was set to Other - please provide details in the comments
DDG2P v0.1 PRMT7 Rebecca Foulger gene: PRMT7 was added
gene: PRMT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRMT7 were set to 26437029
Phenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder
DDG2P v0.1 PRKD1 Rebecca Foulger gene: PRKD1 was added
gene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKD1 were set to Syndromic congenital heart defects
Mode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments
DDG2P v0.1 PRKAR1A Rebecca Foulger gene: PRKAR1A was added
gene: PRKAR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1A were set to 22464252; 21651393; 22464250
Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS 101800
Mode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments
DDG2P v0.1 PRDM6 Rebecca Foulger gene: PRDM6 was added
gene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRDM6 were set to 27181681
Phenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus.
Mode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments
DDG2P v0.1 PRDM12 Rebecca Foulger gene: PRDM12 was added
gene: PRDM12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM12 were set to 26005867
Phenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488
DDG2P v0.1 PPP3CA Rebecca Foulger gene: PPP3CA was added
gene: PPP3CA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP3CA were set to 28942967
Phenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures
Mode of pathogenicity for gene: PPP3CA was set to Other - please provide details in the comments
DDG2P v0.1 PPP2R5D Rebecca Foulger gene: PPP2R5D was added
gene: PPP2R5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R5D were set to 25533962
Phenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: PPP2R5D was set to Other - please provide details in the comments
DDG2P v0.1 PPP2R1A Rebecca Foulger gene: PPP2R1A was added
gene: PPP2R1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2R1A were set to 25533962
Phenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: PPP2R1A was set to Other - please provide details in the comments
DDG2P v0.1 PPP1CB Rebecca Foulger gene: PPP1CB was added
gene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1CB were set to 27264673
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair
Mode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments
DDG2P v0.1 PPA2 Rebecca Foulger gene: PPA2 was added
gene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA2 were set to 27523598; 27523597
Phenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger
Mode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments
DDG2P v0.1 POT1 Rebecca Foulger gene: POT1 was added
gene: POT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: POT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POT1 were set to 27013236
Phenotypes for gene: POT1 were set to Coats Plus
Mode of pathogenicity for gene: POT1 was set to Other - please provide details in the comments
DDG2P v0.1 PORCN Rebecca Foulger gene: PORCN was added
gene: PORCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PORCN were set to 17546031; 17546030; 18325042
Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA 305600
DDG2P v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150 for gene: POMT2
Publications for gene POMT2 were changed from 17923109 to 19138766; 17878207; 16701995; 15894594
DDG2P v0.1 POMT2 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158 for gene: POMT2
Publications for gene POMT2 were changed from 19299310; 19138766; 17634419 to 17923109
DDG2P v0.1 POMT2 Rebecca Foulger gene: POMT2 was added
gene: POMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT2 were set to 19299310; 19138766; 17634419
Phenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156
DDG2P v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308 for gene: POMT1
Publications for gene POMT1 were changed from 16717220; 11053679 to 22549409; 14678799
DDG2P v0.1 POMT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155 for gene: POMT1
Publications for gene POMT1 were changed from 15037715; 11320179; 17878207; 12369018; 19299310 to 16717220; 11053679
DDG2P v0.1 POMT1 Rebecca Foulger gene: POMT1 was added
gene: POMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMT1 were set to 15037715; 11320179; 17878207; 12369018; 19299310
Phenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670
DDG2P v0.1 POMP Rebecca Foulger gene: POMP was added
gene: POMP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMP were set to 20226437
Phenotypes for gene: POMP were set to KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952
Mode of pathogenicity for gene: POMP was set to Other - please provide details in the comments
DDG2P v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 for gene: POMGNT1
Publications for gene POMGNT1 were changed from 17878207; 12588800; 15236414; 11709191 to 18195152; 22419172
DDG2P v0.1 POMGNT1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 for gene: POMGNT1
Publications for gene POMGNT1 were changed from 19299310; 19067344 to 17878207; 12588800; 15236414; 11709191
DDG2P v0.1 POMGNT1 Rebecca Foulger gene: POMGNT1 was added
gene: POMGNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT1 were set to 19299310; 19067344
Phenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151
DDG2P v0.1 POLR3B Rebecca Foulger gene: POLR3B was added
gene: POLR3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
DDG2P v0.1 POLR3A Rebecca Foulger gene: POLR3A was added
gene: POLR3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447
Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
DDG2P v0.1 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459
Mode of pathogenicity for gene: POLG was set to Other - please provide details in the comments
DDG2P v0.1 POLD1 Rebecca Foulger gene: POLD1 was added
gene: POLD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLD1 were set to 23770608
Phenotypes for gene: POLD1 were set to SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM
Mode of pathogenicity for gene: POLD1 was set to Other - please provide details in the comments
DDG2P v0.1 PNPLA2 Rebecca Foulger gene: PNPLA2 was added
gene: PNPLA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA2 were set to 17187067; 22832386
Phenotypes for gene: PNPLA2 were set to NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717
DDG2P v0.1 PNPLA1 Rebecca Foulger gene: PNPLA1 was added
gene: PNPLA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA1 were set to CONGENITAL ICHTHYOSIS
Mode of pathogenicity for gene: PNPLA1 was set to Other - please provide details in the comments
DDG2P v0.1 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNKP were set to 20118933
Phenotypes for gene: PNKP were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402
DDG2P v0.1 PLXND1 Rebecca Foulger gene: PLXND1 was added
gene: PLXND1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PLXND1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PLXND1 were set to MOEBIUS SYNDROME
Mode of pathogenicity for gene: PLXND1 was set to Other - please provide details in the comments
DDG2P v0.1 PLK4 Rebecca Foulger gene: PLK4 was added
gene: PLK4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK4 were set to 25344692
Phenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171
DDG2P v0.1 PLEC Rebecca Foulger Added phenotypes EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138 for gene: PLEC
DDG2P v0.1 PLCB4 Rebecca Foulger gene: PLCB4 was added
gene: PLCB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME 602483
Mode of pathogenicity for gene: PLCB4 was set to Other - please provide details in the comments
DDG2P v0.1 PLCB1 Rebecca Foulger gene: PLCB1 was added
gene: PLCB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCB1 were set to 20833646
Phenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722
DDG2P v0.1 PLAA Rebecca Foulger gene: PLAA was added
gene: PLAA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLAA were set to 28413018
Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy
DDG2P v0.1 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217
DDG2P v0.1 PITX1 Rebecca Foulger gene: PITX1 was added
gene: PITX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PITX1 were set to HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS
DDG2P v0.1 PIP5K1C Rebecca Foulger gene: PIP5K1C was added
gene: PIP5K1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIP5K1C were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369
Mode of pathogenicity for gene: PIP5K1C was set to Other - please provide details in the comments
DDG2P v0.1 PIK3R2 Rebecca Foulger gene: PIK3R2 was added
gene: PIK3R2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3R2 were set to 26860062; 22729224
Phenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387
Mode of pathogenicity for gene: PIK3R2 was set to Other - please provide details in the comments
DDG2P v0.1 PIK3R1 Rebecca Foulger gene: PIK3R1 was added
gene: PIK3R1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIK3R1 were set to 23810378
Phenotypes for gene: PIK3R1 were set to SHORT SYNDROME 269880
DDG2P v0.1 PIK3CA Rebecca Foulger gene: PIK3CA was added
gene: PIK3CA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIK3CA were set to 22658544
Phenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918
Mode of pathogenicity for gene: PIK3CA was set to Other - please provide details in the comments
DDG2P v0.1 PIH1D3 Rebecca Foulger gene: PIH1D3 was added
gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIH1D3 were set to 28041644
Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
DDG2P v0.1 PIGY Rebecca Foulger gene: PIGY was added
gene: PIGY was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGY were set to 26293662
Phenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency
Mode of pathogenicity for gene: PIGY was set to Other - please provide details in the comments
DDG2P v0.1 PIGW Rebecca Foulger gene: PIGW was added
gene: PIGW was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 24367057
Phenotypes for gene: PIGW were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025
Mode of pathogenicity for gene: PIGW was set to Other - please provide details in the comments
DDG2P v0.1 PIGV Rebecca Foulger gene: PIGV was added
gene: PIGV was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGV were set to 17351347; 20802478
Phenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300
Mode of pathogenicity for gene: PIGV was set to Other - please provide details in the comments
DDG2P v0.1 PIGT Rebecca Foulger gene: PIGT was added
gene: PIGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGT were set to 23636107; 24906948
Phenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398
Mode of pathogenicity for gene: PIGT was set to Other - please provide details in the comments
DDG2P v0.1 PIGO Rebecca Foulger gene: PIGO was added
gene: PIGO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGO were set to 22683086
Phenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749
DDG2P v0.1 PIGN Rebecca Foulger gene: PIGN was added
gene: PIGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGN were set to 21493957
Phenotypes for gene: PIGN were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 614080
Mode of pathogenicity for gene: PIGN was set to Other - please provide details in the comments
DDG2P v0.1 PIGM Rebecca Foulger gene: PIGM was added
gene: PIGM was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 16767100
Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency
Mode of pathogenicity for gene: PIGM was set to Other - please provide details in the comments
DDG2P v0.1 PIGG Rebecca Foulger gene: PIGG was added
gene: PIGG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGG were set to 26996948
Phenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia
DDG2P v0.1 PIEZO2 Rebecca Foulger Added phenotypes Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception for gene: PIEZO2
Publications for gene PIEZO2 were changed from 24726473 to 27653382; 27974811; 27912047
DDG2P v0.1 PIEZO2 Rebecca Foulger gene: PIEZO2 was added
gene: PIEZO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PIEZO2 were set to 24726473
Phenotypes for gene: PIEZO2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 3 114300
DDG2P v0.1 PIEZO1 Rebecca Foulger gene: PIEZO1 was added
gene: PIEZO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIEZO1 were set to 26387913
Phenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema
DDG2P v0.1 PHOX2B Rebecca Foulger Added phenotypes NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013 for gene: PHOX2B
Publications for gene PHOX2B were changed from 12640453 to 15024693; 12438263; 16691592
DDG2P v0.1 PHOX2B Rebecca Foulger gene: PHOX2B was added
gene: PHOX2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHOX2B were set to 12640453
Phenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880
Mode of pathogenicity for gene: PHOX2B was set to Other - please provide details in the comments
DDG2P v0.1 PHC1 Rebecca Foulger gene: PHC1 was added
gene: PHC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHC1 were set to 23418308
Phenotypes for gene: PHC1 were set to PRIMARY MICROCEPHALY 615414
Mode of pathogenicity for gene: PHC1 was set to Other - please provide details in the comments
DDG2P v0.1 PGAP3 Rebecca Foulger gene: PGAP3 was added
gene: PGAP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP3 were set to 24439110
Phenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716
DDG2P v0.1 PGAP2 Rebecca Foulger gene: PGAP2 was added
gene: PGAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: PGAP2 was set to Other - please provide details in the comments
DDG2P v0.1 PGAP1 Rebecca Foulger gene: PGAP1 was added
gene: PGAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to 24784135; 26050939; 25804403
Phenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation
DDG2P v0.1 PECR Rebecca Foulger gene: PECR was added
gene: PECR was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PECR were set to 21937992
Phenotypes for gene: PECR were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: PECR was set to Other - please provide details in the comments
DDG2P v0.1 PDSS1 Rebecca Foulger gene: PDSS1 was added
gene: PDSS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 17332895
Phenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651
Mode of pathogenicity for gene: PDSS1 was set to Other - please provide details in the comments
DDG2P v0.1 PDHA1 Rebecca Foulger gene: PDHA1 was added
gene: PDHA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PDHA1 were set to 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169
Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME 312170
DDG2P v0.1 PDGFRB Rebecca Foulger gene: PDGFRB was added
gene: PDGFRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDGFRB were set to 23731542
Phenotypes for gene: PDGFRB were set to FAMILIAL INFANTILE MYOFIBROMATOSIS 228550
Mode of pathogenicity for gene: PDGFRB was set to Other - please provide details in the comments
DDG2P v0.1 PDE4D Rebecca Foulger gene: PDE4D was added
gene: PDE4D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDE4D were set to 22464252; 22464250; 23033274
Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS 101800
Mode of pathogenicity for gene: PDE4D was set to Other - please provide details in the comments
DDG2P v0.1 PDE10A Rebecca Foulger gene: PDE10A was added
gene: PDE10A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDE10A were set to 27058447
Phenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions
Mode of pathogenicity for gene: PDE10A was set to Other - please provide details in the comments
DDG2P v0.1 PCYT1A Rebecca Foulger gene: PCYT1A was added
gene: PCYT1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT1A were set to 24387990
Phenotypes for gene: PCYT1A were set to SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940
DDG2P v0.1 PCGF2 Rebecca Foulger gene: PCGF2 was added
gene: PCGF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PCGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCGF2 were set to INTELLECTUAL DUSBILITY
Mode of pathogenicity for gene: PCGF2 was set to Other - please provide details in the comments
DDG2P v0.1 PCDH19 Rebecca Foulger gene: PCDH19 was added
gene: PCDH19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCDH19 was set to x-linked over-dominance
Publications for gene: PCDH19 were set to 19214208; 5116697; 18469813; 19752159
Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088
DDG2P v0.1 PAX9 Rebecca Foulger gene: PAX9 was added
gene: PAX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX9 were set to TOOTH AGENESIS, SELECTIVE, 3 318869
DDG2P v0.1 PAX8 Rebecca Foulger gene: PAX8 was added
gene: PAX8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX8 were set to 15356023; 15718293; 11502839; 9590296; 11232006
Phenotypes for gene: PAX8 were set to CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700
DDG2P v0.1 PARP1 Rebecca Foulger gene: PARP1 was added
gene: PARP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PARP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARP1 were set to 21937992
Phenotypes for gene: PARP1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: PARP1 was set to Other - please provide details in the comments
DDG2P v0.1 PAK3 Rebecca Foulger gene: PAK3 was added
gene: PAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PAK3 were set to 24556213
Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM
DDG2P v0.1 PACS2 Rebecca Foulger gene: PACS2 was added
gene: PACS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PACS2 were set to 28867141
Phenotypes for gene: PACS2 were set to Unspecified Neurodevelopmental Disorder
Mode of pathogenicity for gene: PACS2 was set to Other - please provide details in the comments
DDG2P v0.1 PACS1 Rebecca Foulger gene: PACS1 was added
gene: PACS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PACS1 were set to 23159249
Phenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: PACS1 was set to Other - please provide details in the comments
DDG2P v0.1 P4HB Rebecca Foulger gene: P4HB was added
gene: P4HB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: P4HB were set to 25683117
Phenotypes for gene: P4HB were set to COLE-CARPENTER SYNDROME 112240
Mode of pathogenicity for gene: P4HB was set to Other - please provide details in the comments
DDG2P v0.1 OTX2 Rebecca Foulger gene: OTX2 was added
gene: OTX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTX2 were set to 18854396; 20396904; 19965921; 19956411; 15846561; 18628516
Phenotypes for gene: OTX2 were set to MICROPHTHALMIA SYNDROMIC TYPE 5 610125
DDG2P v0.1 OTUD6B Rebecca Foulger gene: OTUD6B was added
gene: OTUD6B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTUD6B were set to 28343629
Phenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
DDG2P v0.1 OTC Rebecca Foulger gene: OTC was added
gene: OTC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTC were set to 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064
Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250
DDG2P v0.1 OSGEP Rebecca Foulger gene: OSGEP was added
gene: OSGEP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSGEP were set to 28805828
Phenotypes for gene: OSGEP were set to Nephrotic syndrome with primary microcephaly
Mode of pathogenicity for gene: OSGEP was set to Other - please provide details in the comments
DDG2P v0.1 OFD1 Rebecca Foulger gene: OFD1 was added
gene: OFD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OFD1 were set to 9198060; 15221448; 9482645; 11179005; 11950863
Phenotypes for gene: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200
DDG2P v0.1 NUP62 Rebecca Foulger gene: NUP62 was added
gene: NUP62 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP62 were set to 16786527
Phenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION 271930
Mode of pathogenicity for gene: NUP62 was set to Other - please provide details in the comments
DDG2P v0.1 NTRK2 Rebecca Foulger gene: NTRK2 was added
gene: NTRK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NTRK2 were set to 29100083
Phenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability
Mode of pathogenicity for gene: NTRK2 was set to Other - please provide details in the comments
DDG2P v0.1 NTRK1 Rebecca Foulger gene: NTRK1 was added
gene: NTRK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTRK1 were set to 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906
Phenotypes for gene: NTRK1 were set to CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800
DDG2P v0.1 NSUN2 Rebecca Foulger gene: NSUN2 was added
gene: NSUN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN2 were set to 22541562; 22577224; 22541559; 21063731
Phenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091
Mode of pathogenicity for gene: NSUN2 was set to Other - please provide details in the comments
DDG2P v0.1 NSMCE3 Rebecca Foulger gene: NSMCE3 was added
gene: NSMCE3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSMCE3 were set to DISTINCT DNA BREAKAGE SYNDROME
Mode of pathogenicity for gene: NSMCE3 was set to Other - please provide details in the comments
DDG2P v0.1 NSDHL Rebecca Foulger Added phenotypes CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050 for gene: NSDHL
Publications for gene NSDHL were changed from 19377476; 19842190 to 11907515; 10710235
DDG2P v0.1 NSDHL Rebecca Foulger gene: NSDHL was added
gene: NSDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 19377476; 19842190
Phenotypes for gene: NSDHL were set to CK SYNDROME 300831
DDG2P v0.1 NSD1 Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: NSD1
DDG2P v0.1 NRXN1 Rebecca Foulger gene: NRXN1 was added
gene: NRXN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NRXN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: NRXN1 were set to AUTISM 209850
DDG2P v0.1 NRAS Rebecca Foulger gene: NRAS was added
gene: NRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRAS were set to 19966803
Phenotypes for gene: NRAS were set to NOONAN SYNDROME TYPE 6 613224
Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments
DDG2P v0.1 NR5A1 Rebecca Foulger gene: NR5A1 was added
gene: NR5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR5A1 were set to 46XY SEX REVERSAL 3 612965
Mode of pathogenicity for gene: NR5A1 was set to Other - please provide details in the comments
DDG2P v0.1 NR1I3 Rebecca Foulger gene: NR1I3 was added
gene: NR1I3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NR1I3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR1I3 were set to EHMT1-LIKE INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: NR1I3 was set to Other - please provide details in the comments
DDG2P v0.1 NPHP4 Rebecca Foulger gene: NPHP4 was added
gene: NPHP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP4 were set to 12244321
Phenotypes for gene: NPHP4 were set to NEPHRONOPHTHISIS TYPE 4 606966
DDG2P v0.1 NPHP3 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 3 604387 for gene: NPHP3
Publications for gene NPHP3 were changed from to 19303681; 12872122
DDG2P v0.1 NPHP1 Rebecca Foulger Added phenotypes NEPHRONOPHTHISIS TYPE 1 256100 for gene: NPHP1
Publications for gene NPHP1 were changed from to 9326933; 10839884; 8852662; 9382140
DDG2P v0.1 NOVA2 Rebecca Foulger gene: NOVA2 was added
gene: NOVA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity
DDG2P v0.1 NOTCH3 Rebecca Foulger gene: NOTCH3 was added
gene: NOTCH3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH3 were set to 23731542
Phenotypes for gene: NOTCH3 were set to INFANTILE MYOFIBROMATOSIS 615293
Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments
DDG2P v0.1 NOTCH2 Rebecca Foulger gene: NOTCH2 was added
gene: NOTCH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH2 were set to 21712856; 21378989; 21378985
Phenotypes for gene: NOTCH2 were set to HAJDU-CHENEY SYNDROME 102500
Mode of pathogenicity for gene: NOTCH2 was set to Other - please provide details in the comments
DDG2P v0.1 NOP10 Rebecca Foulger gene: NOP10 was added
gene: NOP10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP10 were set to 17507419
Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 224230
Mode of pathogenicity for gene: NOP10 was set to Other - please provide details in the comments
DDG2P v0.1 NOG Rebecca Foulger Added phenotypes STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460 for gene: NOG
Publications for gene NOG were changed from to 10069712; 12089654
DDG2P v0.1 NKX2-5 Rebecca Foulger Added phenotypes CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250 for gene: NKX2-5
DDG2P v0.1 NKX2-5 Rebecca Foulger gene: NKX2-5 was added
gene: NKX2-5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-5 were set to ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900
DDG2P v0.1 NKX2-1 Rebecca Foulger Added phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978 for gene: NKX2-1
Publications for gene NKX2-1 were changed from to 15289765
DDG2P v0.1 NHP2 Rebecca Foulger gene: NHP2 was added
gene: NHP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHP2 were set to 18523010
Phenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 613987
Mode of pathogenicity for gene: NHP2 was set to Other - please provide details in the comments
DDG2P v0.1 NFU1 Rebecca Foulger gene: NFU1 was added
gene: NFU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFU1 were set to 22077971; 11156534
Phenotypes for gene: NFU1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711
Mode of pathogenicity for gene: NFU1 was set to Other - please provide details in the comments
DDG2P v0.1 NFIX Rebecca Foulger Added phenotypes MARSHALL-SMITH SYNDROME 602535 for gene: NFIX
Publications for gene NFIX were changed from 22301465; 20673863 to 20673863
DDG2P v0.1 NEXMIF Rebecca Foulger gene: NEXMIF was added
gene: NEXMIF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NEXMIF were set to 15466006; 23615299
Phenotypes for gene: NEXMIF were set to KIAA2022 300912
DDG2P v0.1 NEK8 Rebecca Foulger gene: NEK8 was added
gene: NEK8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK8 were set to 18199800
Phenotypes for gene: NEK8 were set to NEPHRONOPHTHISIS 9 613824
DDG2P v0.1 NEDD4L Rebecca Foulger gene: NEDD4L was added
gene: NEDD4L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEDD4L were set to 23934111; 28515470; 27694961
Phenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly
Mode of pathogenicity for gene: NEDD4L was set to Other - please provide details in the comments
DDG2P v0.1 NEB Rebecca Foulger gene: NEB was added
gene: NEB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 27105866; 27933661; 10051637
Phenotypes for gene: NEB were set to AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030
DDG2P v0.1 NDUFV1 Rebecca Foulger gene: NDUFV1 was added
gene: NDUFV1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
Mode of pathogenicity for gene: NDUFV1 was set to Other - please provide details in the comments
DDG2P v0.1 NDUFS8 Rebecca Foulger gene: NDUFS8 was added
gene: NDUFS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
Mode of pathogenicity for gene: NDUFS8 was set to Other - please provide details in the comments
DDG2P v0.1 NDUFB11 Rebecca Foulger gene: NDUFB11 was added
gene: NDUFB11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NDUFB11 were set to 25772934
Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
DDG2P v0.1 NDUFA9 Rebecca Foulger gene: NDUFA9 was added
gene: NDUFA9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA9 were set to LEIGH SYNDROME 256000
Mode of pathogenicity for gene: NDUFA9 was set to Other - please provide details in the comments
DDG2P v0.1 NDUFA10 Rebecca Foulger gene: NDUFA10 was added
gene: NDUFA10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP 256000
Mode of pathogenicity for gene: NDUFA10 was set to Other - please provide details in the comments
DDG2P v0.1 NDST1 Rebecca Foulger gene: NDST1 was added
gene: NDST1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NDST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDST1 were set to 21937992
Phenotypes for gene: NDST1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: NDST1 was set to Other - please provide details in the comments
DDG2P v0.1 NCAPD3 Rebecca Foulger gene: NCAPD3 was added
gene: NCAPD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NCAPD3 was set to
Publications for gene: NCAPD3 were set to 27737959
Phenotypes for gene: NCAPD3 were set to Microcephaly with short stature
DDG2P v0.1 NCAPD2 Rebecca Foulger gene: NCAPD2 was added
gene: NCAPD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NCAPD2 was set to
Publications for gene: NCAPD2 were set to 27737959
Phenotypes for gene: NCAPD2 were set to Microcephaly with short stature
DDG2P v0.1 NAXE Rebecca Foulger gene: NAXE was added
gene: NAXE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXE were set to 27616477
Phenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood
DDG2P v0.1 NALCN Rebecca Foulger Added phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 for gene: NALCN
Publications for gene NALCN were changed from 25683120 to 23749988
DDG2P v0.1 NALCN Rebecca Foulger gene: NALCN was added
gene: NALCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NALCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NALCN were set to 25683120
Phenotypes for gene: NALCN were set to CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266
DDG2P v0.1 NAGS Rebecca Foulger gene: NAGS was added
gene: NAGS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGS were set to 12754705; 12594532
Phenotypes for gene: NAGS were set to N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310
DDG2P v0.1 NADK2 Rebecca Foulger gene: NADK2 was added
gene: NADK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADK2 were set to 24847004
Phenotypes for gene: NADK2 were set to Dienoyl-CoA reductase deficiency with hyperlysinemia
DDG2P v0.1 NACC1 Rebecca Foulger gene: NACC1 was added
gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NACC1 were set to 28132692
Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments
DDG2P v0.1 NAA10 Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome/Lenz for gene: NAA10
Publications for gene NAA10 were changed from 21700266 to 24431331
DDG2P v0.1 NAA10 Rebecca Foulger Added phenotypes X-linked anophthalmia syndrome for gene: NAA10
DDG2P v0.1 NAA10 Rebecca Foulger gene: NAA10 was added
gene: NAA10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NAA10 were set to 25099252
Phenotypes for gene: NAA10 were set to NONPECIFIC SEVERE ID
DDG2P v0.1 MYPN Rebecca Foulger gene: MYPN was added
gene: MYPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYPN were set to 28017374
Phenotypes for gene: MYPN were set to Childhood-Onset, Slowly Progressive Nemaline Myopathy
DDG2P v0.1 MYH9 Rebecca Foulger Added phenotypes MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208 for gene: MYH9
DDG2P v0.1 MYH8 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8
DDG2P v0.1 MYH6 Rebecca Foulger Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 for gene: MYH6
DDG2P v0.1 MYH6 Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 for gene: MYH6
DDG2P v0.1 MYH6 Rebecca Foulger gene: MYH6 was added
gene: MYH6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 160710
Mode of pathogenicity for gene: MYH6 was set to Other - please provide details in the comments
DDG2P v0.1 MYH3 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 for gene: MYH3
Publications for gene MYH3 were changed from 16642020; 18695058 to 16642020
DDG2P v0.1 MYH3 Rebecca Foulger gene: MYH3 was added
gene: MYH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH3 were set to 16642020; 18695058
Phenotypes for gene: MYH3 were set to DISTAL ARTHROGRYPOSIS TYPE 2B 601680
Mode of pathogenicity for gene: MYH3 was set to Other - please provide details in the comments
DDG2P v0.1 MUT Rebecca Foulger gene: MUT was added
gene: MUT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MUT were set to 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139
Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT 251000
DDG2P v0.1 MTR Rebecca Foulger gene: MTR was added
gene: MTR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 8968736; 9683607; 8968737; 12068375
Phenotypes for gene: MTR were set to METHYLCOBALAMIN DEFICIENCY TYPE G 250940
DDG2P v0.1 MTOR Rebecca Foulger Added phenotypes Smith-Kingsmore syndrome for gene: MTOR
Publications for gene MTOR were changed from 23934111 to 28892148
DDG2P v0.1 MTOR Rebecca Foulger gene: MTOR was added
gene: MTOR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTOR were set to 23934111
Phenotypes for gene: MTOR were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: MTOR was set to Other - please provide details in the comments
DDG2P v0.1 MTO1 Rebecca Foulger gene: MTO1 was added
gene: MTO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTO1 were set to 22608499
Phenotypes for gene: MTO1 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702
DDG2P v0.1 MTMR14 Rebecca Foulger gene: MTMR14 was added
gene: MTMR14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MTMR14 was set to
Phenotypes for gene: MTMR14 were set to CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF 160150
Mode of pathogenicity for gene: MTMR14 was set to Other - please provide details in the comments
DDG2P v0.1 MTM1 Rebecca Foulger gene: MTM1 was added
gene: MTM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MTM1 were set to 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787
Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED 310400
DDG2P v0.1 MTHFR Rebecca Foulger gene: MTHFR was added
gene: MTHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250
DDG2P v0.1 MSL3 Rebecca Foulger gene: MSL3 was added
gene: MSL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MSL3 were set to 30224647
Phenotypes for gene: MSL3 were set to MSL3 syndrome
DDG2P v0.1 MSI1 Rebecca Foulger gene: MSI1 was added
gene: MSI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MSI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSI1 were set to 28572454
Phenotypes for gene: MSI1 were set to MSI1-associated Microcephaly
Mode of pathogenicity for gene: MSI1 was set to Other - please provide details in the comments
DDG2P v0.1 MRPS34 Rebecca Foulger gene: MRPS34 was added
gene: MRPS34 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS34 were set to 28777931
Phenotypes for gene: MRPS34 were set to Leigh Syndrome with Instability of the Small Mitoribosomal Subunit
DDG2P v0.1 MRPS22 Rebecca Foulger gene: MRPS22 was added
gene: MRPS22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS22 were set to 17873122
Phenotypes for gene: MRPS22 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719
Mode of pathogenicity for gene: MRPS22 was set to Other - please provide details in the comments
DDG2P v0.1 MPLKIP Rebecca Foulger gene: MPLKIP was added
gene: MPLKIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050
DDG2P v0.1 MORC2 Rebecca Foulger gene: MORC2 was added
gene: MORC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MORC2 was set to
Publications for gene: MORC2 were set to 26497905
Phenotypes for gene: MORC2 were set to MORC2 - axonal neuropathy
DDG2P v0.1 MOGS Rebecca Foulger gene: MOGS was added
gene: MOGS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOGS were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Mode of pathogenicity for gene: MOGS was set to Other - please provide details in the comments
DDG2P v0.1 MMP14 Rebecca Foulger gene: MMP14 was added
gene: MMP14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MMP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP14 were set to 22922033
Phenotypes for gene: MMP14 were set to WINCHESTER SYNDROME
Mode of pathogenicity for gene: MMP14 was set to Other - please provide details in the comments
DDG2P v0.1 MMP13 Rebecca Foulger gene: MMP13 was added
gene: MMP13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMP13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MMP13 were set to 8412645; 19615667
Phenotypes for gene: MMP13 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111
Mode of pathogenicity for gene: MMP13 was set to Other - please provide details in the comments
DDG2P v0.1 MMADHC Rebecca Foulger gene: MMADHC was added
gene: MMADHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410
DDG2P v0.1 MMACHC Rebecca Foulger gene: MMACHC was added
gene: MMACHC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 16311595; 16714133; 11320193; 20631720
Phenotypes for gene: MMACHC were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400
DDG2P v0.1 MMAB Rebecca Foulger gene: MMAB was added
gene: MMAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAB were set to 12471062
Phenotypes for gene: MMAB were set to METHYLMALONIC ACIDURIA TYPE CBLB 251110
DDG2P v0.1 MMAA Rebecca Foulger gene: MMAA was added
gene: MMAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMAA were set to 12438653
Phenotypes for gene: MMAA were set to METHYLMALONIC ACIDURIA TYPE CBLA 251100
DDG2P v0.1 MLC1 Rebecca Foulger gene: MLC1 was added
gene: MLC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MLC1 were set to 11254442; 12189496; 14615938; 11935341; 21624973
Phenotypes for gene: MLC1 were set to LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004
DDG2P v0.1 MITF Rebecca Foulger Added phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness for gene: MITF
Publications for gene MITF were changed from 8490648; 8589691; 7874167; 9856573 to 27889061
DDG2P v0.1 MITF Rebecca Foulger gene: MITF was added
gene: MITF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MITF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MITF were set to 9158138
Phenotypes for gene: MITF were set to WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470
DDG2P v0.1 MIR184 Rebecca Foulger gene: MIR184 was added
gene: MIR184 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIR184 were set to 21996275
Phenotypes for gene: MIR184 were set to EDICT SYNDROME 614303; KERATOCONUS WITH CATARACT
Mode of pathogenicity for gene: MIR184 was set to Other - please provide details in the comments
DDG2P v0.1 MICU1 Rebecca Foulger gene: MICU1 was added
gene: MICU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU1 were set to 24336167
Phenotypes for gene: MICU1 were set to MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673
DDG2P v0.1 MFSD2A Rebecca Foulger gene: MFSD2A was added
gene: MFSD2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFSD2A were set to 26005865
Phenotypes for gene: MFSD2A were set to MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486
Mode of pathogenicity for gene: MFSD2A was set to Other - please provide details in the comments
DDG2P v0.1 MFRP Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 5 611040 for gene: MFRP
Publications for gene MFRP were changed from 1258954; 15976030 to 17167404
DDG2P v0.1 MFRP Rebecca Foulger gene: MFRP was added
gene: MFRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFRP were set to 1258954; 15976030
Phenotypes for gene: MFRP were set to NANOPHTHALMOS 2 609549
DDG2P v0.1 MEGF10 Rebecca Foulger gene: MEGF10 was added
gene: MEGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEGF10 were set to 22101682; 17236770; 22371254
Phenotypes for gene: MEGF10 were set to MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399
DDG2P v0.1 MED23 Rebecca Foulger gene: MED23 was added
gene: MED23 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249
Mode of pathogenicity for gene: MED23 was set to Other - please provide details in the comments
DDG2P v0.1 MED17 Rebecca Foulger gene: MED17 was added
gene: MED17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED17 were set to 20950787
Phenotypes for gene: MED17 were set to MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668
Mode of pathogenicity for gene: MED17 was set to Other - please provide details in the comments
DDG2P v0.1 MED12 Rebecca Foulger gene: MED12 was added
gene: MED12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MED12 were set to 17334363
Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME 305450
Mode of pathogenicity for gene: MED12 was set to Other - please provide details in the comments
DDG2P v0.1 MECP2 Rebecca Foulger Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673 for gene: MECP2
Publications for gene MECP2 were changed from 29618507 to 11402105; 11238684
DDG2P v0.1 MECP2 Rebecca Foulger gene: MECP2 was added
gene: MECP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MECP2 were set to 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091
Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[ 312750
DDG2P v0.1 MECOM Rebecca Foulger gene: MECOM was added
gene: MECOM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MECOM were set to 26581901
Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Mode of pathogenicity for gene: MECOM was set to Other - please provide details in the comments
DDG2P v0.1 MDH2 Rebecca Foulger gene: MDH2 was added
gene: MDH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MDH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDH2 were set to 27989324
Phenotypes for gene: MDH2 were set to Early-Onset Severe Encephalopathy
DDG2P v0.1 MCEE Rebecca Foulger gene: MCEE was added
gene: MCEE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 16752391
Phenotypes for gene: MCEE were set to METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120
DDG2P v0.1 MCCC2 Rebecca Foulger gene: MCCC2 was added
gene: MCCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC2 were set to 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210
DDG2P v0.1 MCCC1 Rebecca Foulger gene: MCCC1 was added
gene: MCCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCCC1 were set to 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200
DDG2P v0.1 MATN3 Rebecca Foulger gene: MATN3 was added
gene: MATN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MATN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MATN3 were set to 15948199; 11479597; 13849708; 14729835
Phenotypes for gene: MATN3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078
Mode of pathogenicity for gene: MATN3 was set to Other - please provide details in the comments
DDG2P v0.1 MAT1A Rebecca Foulger gene: MAT1A was added
gene: MAT1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454
Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850
DDG2P v0.1 MAPRE2 Rebecca Foulger gene: MAPRE2 was added
gene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPRE2 were set to 26637975
Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type
Mode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments
DDG2P v0.1 MAPK10 Rebecca Foulger gene: MAPK10 was added
gene: MAPK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPK10 were set to EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369
DDG2P v0.1 MAP3K7 Rebecca Foulger gene: MAP3K7 was added
gene: MAP3K7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 27426734
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome
Mode of pathogenicity for gene: MAP3K7 was set to Other - please provide details in the comments
DDG2P v0.1 MAP2K2 Rebecca Foulger gene: MAP2K2 was added
gene: MAP2K2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150
Mode of pathogenicity for gene: MAP2K2 was set to Other - please provide details in the comments
DDG2P v0.1 MAP2K1 Rebecca Foulger gene: MAP2K1 was added
gene: MAP2K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAP2K1 were set to CARDIOFACIOCUTANEOUS SYNDROME 115150
Mode of pathogenicity for gene: MAP2K1 was set to Other - please provide details in the comments
DDG2P v0.1 MAN1B1 Rebecca Foulger gene: MAN1B1 was added
gene: MAN1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN1B1 were set to 26577042; 24348268; 21763484; 24566669; 26279649; 21937992
Phenotypes for gene: MAN1B1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: MAN1B1 was set to Other - please provide details in the comments
DDG2P v0.1 MAGI2 Rebecca Foulger gene: MAGI2 was added
gene: MAGI2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAGI2 were set to 18565486
Phenotypes for gene: MAGI2 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 MAGEL2 Rebecca Foulger Added phenotypes ARTHROGRYPOSIS MULTIPLEX CONGENITA for gene: MAGEL2
Publications for gene MAGEL2 were changed from 27195816; 24076603 to 26365340
DDG2P v0.1 MAF Rebecca Foulger gene: MAF was added
gene: MAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAF were set to CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES
Mode of pathogenicity for gene: MAF was set to Other - please provide details in the comments
DDG2P v0.1 MAB21L2 Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 14 615877 for gene: MAB21L2
DDG2P v0.1 MAB21L2 Rebecca Foulger gene: MAB21L2 was added
gene: MAB21L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAB21L2 were set to 24906020
Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14 615877
DDG2P v0.1 LTBP3 Rebecca Foulger gene: LTBP3 was added
gene: LTBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP3 were set to 25669657
Phenotypes for gene: LTBP3 were set to PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216
DDG2P v0.1 LRP6 Rebecca Foulger gene: LRP6 was added
gene: LRP6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRP6 were set to 26963285
Phenotypes for gene: LRP6 were set to Tooth Agenesis
DDG2P v0.1 LRP5 Rebecca Foulger Added phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813 for gene: LRP5
Publications for gene LRP5 were changed from 12579474 to 9056564; 9831343; 15024691; 15981244
DDG2P v0.1 LRP5 Rebecca Foulger Added phenotypes ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 for gene: LRP5
DDG2P v0.1 LRP5 Rebecca Foulger gene: LRP5 was added
gene: LRP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRP5 were set to 11741193; 14727154
Phenotypes for gene: LRP5 were set to HIGH BONE MASS TRAIT 601884
DDG2P v0.1 LRP2 Rebecca Foulger gene: LRP2 was added
gene: LRP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LRP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to 23033978
Phenotypes for gene: LRP2 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 LONP1 Rebecca Foulger gene: LONP1 was added
gene: LONP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to 25574826
Phenotypes for gene: LONP1 were set to CODAS SYNDROME 600373
Mode of pathogenicity for gene: LONP1 was set to Other - please provide details in the comments
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger gene: LMNA was added
gene: LMNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to CARDIOMYOPATHY DILATED TYPE 1A 115200
DDG2P v0.1 LMBRD1 Rebecca Foulger gene: LMBRD1 was added
gene: LMBRD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 19136951
Phenotypes for gene: LMBRD1 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380
DDG2P v0.1 LIPT2 Rebecca Foulger gene: LIPT2 was added
gene: LIPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT2 were set to 28757203
Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Mode of pathogenicity for gene: LIPT2 was set to Other - please provide details in the comments
DDG2P v0.1 LIPT1 Rebecca Foulger gene: LIPT1 was added
gene: LIPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPT1 were set to 24341803; 27247813; 24256811
Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Mode of pathogenicity for gene: LIPT1 was set to Other - please provide details in the comments
DDG2P v0.1 LIPN Rebecca Foulger gene: LIPN was added
gene: LIPN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LIPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPN were set to 21439540
Phenotypes for gene: LIPN were set to ICHTHYOSIS, LAMELLAR, 4 613943
DDG2P v0.1 LIG4 Rebecca Foulger Added phenotypes SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450 for gene: LIG4
Publications for gene LIG4 were changed from 11779494 to 16357942
DDG2P v0.1 LIAS Rebecca Foulger gene: LIAS was added
gene: LIAS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIAS were set to 22152680; 26108146
Phenotypes for gene: LIAS were set to Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
Mode of pathogenicity for gene: LIAS was set to Other - please provide details in the comments
DDG2P v0.1 LGI4 Rebecca Foulger gene: LGI4 was added
gene: LGI4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI4 were set to 28318499
Phenotypes for gene: LGI4 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA
DDG2P v0.1 LGI1 Rebecca Foulger gene: LGI1 was added
gene: LGI1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LGI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LGI1 were set to AUTOSOMAL DOMINANT PARTIAL EPILEPSY WITH AUDITORY FEATURES 600512
DDG2P v0.1 LFNG Rebecca Foulger gene: LFNG was added
gene: LFNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LFNG were set to 16385447
Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813
Mode of pathogenicity for gene: LFNG was set to Other - please provide details in the comments
DDG2P v0.1 LDB3 Rebecca Foulger Added phenotypes MYOPATHY MYOFIBRILLAR TYPE 4 609452 for gene: LDB3
DDG2P v0.1 LDB3 Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1C 601493 for gene: LDB3
DDG2P v0.1 LDB3 Rebecca Foulger gene: LDB3 was added
gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493
Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments
DDG2P v0.1 LBR Rebecca Foulger gene: LBR was added
gene: LBR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LBR were set to 12618959
Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140
DDG2P v0.1 LARS2 Rebecca Foulger gene: LARS2 was added
gene: LARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 23541342
Phenotypes for gene: LARS2 were set to PERRAULT SYNDROME
Mode of pathogenicity for gene: LARS2 was set to Other - please provide details in the comments
DDG2P v0.1 LARGE1 Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 for gene: LARGE1
Publications for gene LARGE1 were changed from 19299310; 19067344; 17436019 to 12966029; 21248746
DDG2P v0.1 LARGE1 Rebecca Foulger gene: LARGE1 was added
gene: LARGE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARGE1 were set to 19299310; 19067344; 17436019
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154
DDG2P v0.1 LAMB1 Rebecca Foulger gene: LAMB1 was added
gene: LAMB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191
DDG2P v0.1 LAMA1 Rebecca Foulger gene: LAMA1 was added
gene: LAMA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA1 were set to 25105227
Phenotypes for gene: LAMA1 were set to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY
DDG2P v0.1 L1CAM Rebecca Foulger Added phenotypes PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 for gene: L1CAM
Publications for gene L1CAM were changed from 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550 to 26916325
DDG2P v0.1 L1CAM Rebecca Foulger Added phenotypes HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000 for gene: L1CAM
Publications for gene L1CAM were changed from 7920659; 7920660; 3460961 to 8929944; 15148591; 18136715; 9279760; 8401593; 8401576; 15368500; 1303258; 7881431; 7920659; 9643285; 11857550
DDG2P v0.1 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to 7920659; 7920660; 3460961
Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350
DDG2P v0.1 KRT74 Rebecca Foulger gene: KRT74 was added
gene: KRT74 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KRT74 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRT74 were set to 21188418
Phenotypes for gene: KRT74 were set to HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981
Mode of pathogenicity for gene: KRT74 was set to Other - please provide details in the comments
DDG2P v0.1 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to CARDIOFACIOCUTANEOUS SYNDROME 115150
Mode of pathogenicity for gene: KRAS was set to Other - please provide details in the comments
DDG2P v0.1 KLHL7 Rebecca Foulger gene: KLHL7 was added
gene: KLHL7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL7 were set to 27392078
Phenotypes for gene: KLHL7 were set to Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Mode of pathogenicity for gene: KLHL7 was set to Other - please provide details in the comments
DDG2P v0.1 KLHL40 Rebecca Foulger gene: KLHL40 was added
gene: KLHL40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL40 were set to 23746549
Phenotypes for gene: KLHL40 were set to NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348
DDG2P v0.1 KLF1 Rebecca Foulger gene: KLF1 was added
gene: KLF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF1 were set to 21055716
Phenotypes for gene: KLF1 were set to ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673
Mode of pathogenicity for gene: KLF1 was set to Other - please provide details in the comments
DDG2P v0.1 KITLG Rebecca Foulger gene: KITLG was added
gene: KITLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KITLG were set to 26522471
Phenotypes for gene: KITLG were set to WAARDENBURG SYNDROME TYPE 2
Mode of pathogenicity for gene: KITLG was set to Other - please provide details in the comments
DDG2P v0.1 KIRREL3 Rebecca Foulger gene: KIRREL3 was added
gene: KIRREL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KIRREL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIRREL3 were set to 19012874
Phenotypes for gene: KIRREL3 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581
Mode of pathogenicity for gene: KIRREL3 was set to Other - please provide details in the comments
DDG2P v0.1 KIF5C Rebecca Foulger gene: KIF5C was added
gene: KIF5C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5C were set to 23603762
Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282
Mode of pathogenicity for gene: KIF5C was set to Other - please provide details in the comments
DDG2P v0.1 KIF2A Rebecca Foulger gene: KIF2A was added
gene: KIF2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KIF2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF2A were set to 23603762
Phenotypes for gene: KIF2A were set to MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY.
Mode of pathogenicity for gene: KIF2A was set to Other - please provide details in the comments
DDG2P v0.1 KIF22 Rebecca Foulger gene: KIF22 was added
gene: KIF22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF22 were set to 19277648; 22152678
Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546
Mode of pathogenicity for gene: KIF22 was set to Other - please provide details in the comments
DDG2P v0.1 KIF1A Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A
DDG2P v0.1 KIF1A Rebecca Foulger Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A
Publications for gene KIF1A were changed from 21376300 to 21820098
DDG2P v0.1 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to 21376300
Phenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255
DDG2P v0.1 KIF11 Rebecca Foulger gene: KIF11 was added
gene: KIF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF11 were set to 15930898; 22284827
Phenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950
DDG2P v0.1 KIAA1109 Rebecca Foulger gene: KIAA1109 was added
gene: KIAA1109 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 25558065
Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures
Mode of pathogenicity for gene: KIAA1109 was set to Other - please provide details in the comments
DDG2P v0.1 KDM6B Rebecca Foulger gene: KDM6B was added
gene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDM6B were set to 21937992
Phenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments
DDG2P v0.1 KDM6A Rebecca Foulger gene: KDM6A was added
gene: KDM6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM6A were set to 23076834; 22197486
Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2 300867
DDG2P v0.1 KDM5A Rebecca Foulger gene: KDM5A was added
gene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDM5A were set to 21937992
Phenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments
DDG2P v0.1 KDM1A Rebecca Foulger gene: KDM1A was added
gene: KDM1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM1A were set to 26656649
Phenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features
Mode of pathogenicity for gene: KDM1A was set to Other - please provide details in the comments
DDG2P v0.1 KCTD1 Rebecca Foulger gene: KCTD1 was added
gene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCTD1 were set to 23541344
Phenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME
Mode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNT1 Rebecca Foulger gene: KCNT1 was added
gene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNT1 were set to 23086397
Phenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
Mode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNQ5 Rebecca Foulger Added phenotypes Intellectual Disability with or without Epileptic Encephalopathy for gene: KCNQ5
DDG2P v0.1 KCNQ5 Rebecca Foulger gene: KCNQ5 was added
gene: KCNQ5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ5 were set to 28669405
Phenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy
DDG2P v0.1 KCNQ3 Rebecca Foulger gene: KCNQ3 was added
gene: KCNQ3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNQ3 were set to KCNQ3 syndrome
Mode of pathogenicity for gene: KCNQ3 was set to Other - please provide details in the comments
DDG2P v0.1 KCNQ2 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 for gene: KCNQ2
Publications for gene KCNQ2 were changed from 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 to 22275249; 12742592
DDG2P v0.1 KCNMA1 Rebecca Foulger gene: KCNMA1 was added
gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNMA1 were set to 15937479
Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446
Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNK9 Rebecca Foulger gene: KCNK9 was added
gene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292
Mode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments
DDG2P v0.1 KCNJ6 Rebecca Foulger gene: KCNJ6 was added
gene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ6 were set to 25620207
Phenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098
Mode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments
DDG2P v0.1 KCNJ11 Rebecca Foulger gene: KCNJ11 was added
gene: KCNJ11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KCNJ11 were set to 9356020
Phenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM 3272
DDG2P v0.1 KCNH5 Rebecca Foulger gene: KCNH5 was added
gene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH5 were set to 23647072
Phenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments
DDG2P v0.1 KCNH1 Rebecca Foulger gene: KCNH1 was added
gene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNH1 were set to 25420144
Phenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816
Mode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNE1 Rebecca Foulger gene: KCNE1 was added
gene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347
Mode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNC3 Rebecca Foulger gene: KCNC3 was added
gene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259
Mode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments
DDG2P v0.1 KCNC1 Rebecca Foulger gene: KCNC1 was added
gene: KCNC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNC1 were set to 25401298
Phenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187
Mode of pathogenicity for gene: KCNC1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNB1 Rebecca Foulger gene: KCNB1 was added
gene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNB1 were set to 25164438
Phenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056
Mode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments
DDG2P v0.1 KCNA2 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY. for gene: KCNA2
DDG2P v0.1 KCNA2 Rebecca Foulger gene: KCNA2 was added
gene: KCNA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNA2 were set to 25751627
Phenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.
DDG2P v0.1 KBTBD13 Rebecca Foulger gene: KBTBD13 was added
gene: KBTBD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KBTBD13 were set to 21104864; 21109227; 12805120
Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 609273
Mode of pathogenicity for gene: KBTBD13 was set to Other - please provide details in the comments
DDG2P v0.1 KARS Rebecca Foulger gene: KARS was added
gene: KARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KARS were set to 20920668
Phenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641
DDG2P v0.1 JAM3 Rebecca Foulger gene: JAM3 was added
gene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAM3 were set to 21109224; 23255084
Phenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730
DDG2P v0.1 ITPR1 Rebecca Foulger gene: ITPR1 was added
gene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ITPR1 were set to 17932120
Phenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658
DDG2P v0.1 ITGA6 Rebecca Foulger gene: ITGA6 was added
gene: ITGA6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ITGA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ITGA6 were set to 9185503
Phenotypes for gene: ITGA6 were set to EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730
DDG2P v0.1 IRX5 Rebecca Foulger gene: IRX5 was added
gene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174
Mode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments
DDG2P v0.1 IQSEC2 Rebecca Foulger gene: IQSEC2 was added
gene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IQSEC2 were set to 3177466; 7943039; 20473311
Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530
Mode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments
DDG2P v0.1 INPP5K Rebecca Foulger gene: INPP5K was added
gene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5K were set to 28190459; 28190456
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability
Mode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments
DDG2P v0.1 IMPAD1 Rebecca Foulger gene: IMPAD1 was added
gene: IMPAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPAD1 were set to 21549340
Phenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078
DDG2P v0.1 IL11 Rebecca Foulger gene: IL11 was added
gene: IL11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IL11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL11 were set to 21741611
Phenotypes for gene: IL11 were set to CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188
Mode of pathogenicity for gene: IL11 was set to Other - please provide details in the comments
DDG2P v0.1 IKBKG Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291 for gene: IKBKG
Publications for gene IKBKG were changed from 10839543; 9450877 to 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109
DDG2P v0.1 IKBKG Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301 for gene: IKBKG
DDG2P v0.1 IKBKG Rebecca Foulger gene: IKBKG was added
gene: IKBKG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IKBKG was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IKBKG were set to 15356572; 15577852
Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584
DDG2P v0.1 IHH Rebecca Foulger gene: IHH was added
gene: IHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IHH were set to 16871364; 19277064; 18629882; 12384778; 11455389; 12525541
Phenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 112500
Mode of pathogenicity for gene: IHH was set to Other - please provide details in the comments
DDG2P v0.1 IGSF1 Rebecca Foulger gene: IGSF1 was added
gene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IGSF1 were set to 23143598
Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888
DDG2P v0.1 IGHMBP2 Rebecca Foulger gene: IGHMBP2 was added
gene: IGHMBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGHMBP2 were set to 11528396; 15290238
Phenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320
DDG2P v0.1 IGFBP7 Rebecca Foulger gene: IGFBP7 was added
gene: IGFBP7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGFBP7 were set to 12441727
Phenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224
DDG2P v0.1 IGF2 Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: IGF2
DDG2P v0.1 IGF1R Rebecca Foulger Added phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 for gene: IGF1R
DDG2P v0.1 IGF1R Rebecca Foulger gene: IGF1R was added
gene: IGF1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IGF1R were set to 14657428
Phenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450
DDG2P v0.1 IGF1 Rebecca Foulger gene: IGF1 was added
gene: IGF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IGF1 were set to 15769976; 8857020; 14684690
Phenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747
DDG2P v0.1 IGBP1 Rebecca Foulger gene: IGBP1 was added
gene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472
Mode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments
DDG2P v0.1 IFT80 Rebecca Foulger gene: IFT80 was added
gene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT80 were set to 17468754
Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263
Mode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments
DDG2P v0.1 IFT43 Rebecca Foulger gene: IFT43 was added
gene: IFT43 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT43 were set to 21378380
Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 614099
Mode of pathogenicity for gene: IFT43 was set to Other - please provide details in the comments
DDG2P v0.1 IFT122 Rebecca Foulger gene: IFT122 was added
gene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT122 were set to 19760620; 17022080; 20493458
Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330
Mode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments
DDG2P v0.1 IFITM5 Rebecca Foulger gene: IFITM5 was added
gene: IFITM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFITM5 were set to 22863195; 22863190
Phenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V 610967
Mode of pathogenicity for gene: IFITM5 was set to Other - please provide details in the comments
DDG2P v0.1 IFIH1 Rebecca Foulger gene: IFIH1 was added
gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 24995871
Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846
Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments
DDG2P v0.1 IARS2 Rebecca Foulger gene: IARS2 was added
gene: IARS2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS2 were set to 25130867
Phenotypes for gene: IARS2 were set to CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007
DDG2P v0.1 IARS Rebecca Foulger gene: IARS was added
gene: IARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 27426735
Phenotypes for gene: IARS were set to Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
DDG2P v0.1 HYLS1 Rebecca Foulger gene: HYLS1 was added
gene: HYLS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYLS1 were set to 15843405
Phenotypes for gene: HYLS1 were set to HYDROLETHALUS SYNDROME TYPE 1 236680
Mode of pathogenicity for gene: HYLS1 was set to Other - please provide details in the comments
DDG2P v0.1 HUWE1 Rebecca Foulger gene: HUWE1 was added
gene: HUWE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HUWE1 were set to 7943042; 18252223
Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706
Mode of pathogenicity for gene: HUWE1 was set to Other - please provide details in the comments
DDG2P v0.1 HTRA2 Rebecca Foulger gene: HTRA2 was added
gene: HTRA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 27696117
Phenotypes for gene: HTRA2 were set to Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
DDG2P v0.1 HSF4 Rebecca Foulger gene: HSF4 was added
gene: HSF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSF4 were set to 12089525
Phenotypes for gene: HSF4 were set to CATARACT MARNER TYPE 116800
Mode of pathogenicity for gene: HSF4 was set to Other - please provide details in the comments
DDG2P v0.1 HSD3B7 Rebecca Foulger gene: HSD3B7 was added
gene: HSD3B7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765
DDG2P v0.1 HSD17B10 Rebecca Foulger gene: HSD17B10 was added
gene: HSD17B10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HSD17B10 were set to 16148061; 12555940; 12696021
Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438
DDG2P v0.1 HRAS Rebecca Foulger Added phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040 for gene: HRAS
DDG2P v0.1 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316
Phenotypes for gene: HRAS were set to COSTELLO SYNDROME 218040
Mode of pathogenicity for gene: HRAS was set to Other - please provide details in the comments
DDG2P v0.1 HR Rebecca Foulger Added phenotypes ATRICHIA WITH PAPULAR LESIONS 209500 for gene: HR
Publications for gene HR were changed from 19897589; 10777357; 17680008 to 9856480; 10469319; 10205263; 12271294; 10051399
DDG2P v0.1 HPGD Rebecca Foulger gene: HPGD was added
gene: HPGD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to CRANIOOSTEOARTHROPATHY 259100
DDG2P v0.1 HPD Rebecca Foulger gene: HPD was added
gene: HPD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to HAWKINSINURIA 140350
DDG2P v0.1 HOXD13 Rebecca Foulger gene: HOXD13 was added
gene: HOXD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HOXD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXD13 were set to 19006232
Phenotypes for gene: HOXD13 were set to VACTERL ASSOCIATION 192350
Mode of pathogenicity for gene: HOXD13 was set to Other - please provide details in the comments
DDG2P v0.1 HOXB1 Rebecca Foulger gene: HOXB1 was added
gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXB1 were set to 22770981
Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744
Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments
DDG2P v0.1 HOXA11 Rebecca Foulger gene: HOXA11 was added
gene: HOXA11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXA11 were set to 26581901
Phenotypes for gene: HOXA11 were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
DDG2P v0.1 HOXA1 Rebecca Foulger Added phenotypes ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536 for gene: HOXA1
DDG2P v0.1 HNRNPU Rebecca Foulger gene: HNRNPU was added
gene: HNRNPU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPU were set to 23934111
Phenotypes for gene: HNRNPU were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 HNRNPH2 Rebecca Foulger gene: HNRNPH2 was added
gene: HNRNPH2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HNRNPH2 were set to 27545675
Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females
Mode of pathogenicity for gene: HNRNPH2 was set to Other - please provide details in the comments
DDG2P v0.1 HNF4A Rebecca Foulger Added phenotypes ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353 for gene: HNF4A
Publications for gene HNF4A were changed from 8945471 to 24285859
DDG2P v0.1 HNF4A Rebecca Foulger gene: HNF4A was added
gene: HNF4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNF4A were set to 8945471
Phenotypes for gene: HNF4A were set to HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850
DDG2P v0.1 HMGCS2 Rebecca Foulger gene: HMGCS2 was added
gene: HMGCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCS2 were set to 11479731; 9727719; 12647205; 11228257; 9337379
Phenotypes for gene: HMGCS2 were set to 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911
Mode of pathogenicity for gene: HMGCS2 was set to Other - please provide details in the comments
DDG2P v0.1 HMGCL Rebecca Foulger gene: HMGCL was added
gene: HMGCL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMGCL were set to 9463337; 8617516; 11129331
Phenotypes for gene: HMGCL were set to 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450
DDG2P v0.1 HMGB3 Rebecca Foulger gene: HMGB3 was added
gene: HMGB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HMGB3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HMGB3 were set to 24993872
Phenotypes for gene: HMGB3 were set to Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature
DDG2P v0.1 HLCS Rebecca Foulger gene: HLCS was added
gene: HLCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018
DDG2P v0.1 HIVEP2 Rebecca Foulger gene: HIVEP2 was added
gene: HIVEP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HIVEP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIVEP2 were set to 26153216; 27003583
Phenotypes for gene: HIVEP2 were set to HIVEP2 associated syndromic developmental delay with intellectual disability
DDG2P v0.1 HIST3H3 Rebecca Foulger gene: HIST3H3 was added
gene: HIST3H3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HIST3H3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIST3H3 were set to 21937992
Phenotypes for gene: HIST3H3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: HIST3H3 was set to Other - please provide details in the comments
DDG2P v0.1 HIST1H4J Rebecca Foulger gene: HIST1H4J was added
gene: HIST1H4J was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HIST1H4J was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H4J were set to Intellectual disability with facial dysmorphism
Mode of pathogenicity for gene: HIST1H4J was set to Other - please provide details in the comments
DDG2P v0.1 HIST1H4C Rebecca Foulger gene: HIST1H4C was added
gene: HIST1H4C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HIST1H4C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H4C were set to 100000; 28920961
Phenotypes for gene: HIST1H4C were set to HIST1H4C
Mode of pathogenicity for gene: HIST1H4C was set to Other - please provide details in the comments
DDG2P v0.1 HIST1H1E Rebecca Foulger gene: HIST1H1E was added
gene: HIST1H1E was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIST1H1E were set to 28475857
Phenotypes for gene: HIST1H1E were set to Childhood overgrowth
DDG2P v0.1 HINT1 Rebecca Foulger gene: HINT1 was added
gene: HINT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HINT1 were set to 22961002
Phenotypes for gene: HINT1 were set to NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200
DDG2P v0.1 HESX1 Rebecca Foulger gene: HESX1 was added
gene: HESX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to SEPTOOPTIC DYSPLASIA 256657
DDG2P v0.1 HECW2 Rebecca Foulger gene: HECW2 was added
gene: HECW2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HECW2 were set to 27334371; 27389779
Phenotypes for gene: HECW2 were set to HECW2
Mode of pathogenicity for gene: HECW2 was set to Other - please provide details in the comments
DDG2P v0.1 HDAC8 Rebecca Foulger gene: HDAC8 was added
gene: HDAC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HDAC8 were set to 22885700
Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME
DDG2P v0.1 HCN1 Rebecca Foulger gene: HCN1 was added
gene: HCN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HCN1 were set to 24747641
Phenotypes for gene: HCN1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871
Mode of pathogenicity for gene: HCN1 was set to Other - please provide details in the comments
DDG2P v0.1 HCCS Rebecca Foulger gene: HCCS was added
gene: HCCS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: HCCS were set to 17033964
Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7 309801
DDG2P v0.1 HARS Rebecca Foulger gene: HARS was added
gene: HARS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HARS were set to 22279524
Phenotypes for gene: HARS were set to USHER SYNDROME 614504
Mode of pathogenicity for gene: HARS was set to Other - please provide details in the comments
DDG2P v0.1 H3F3A Rebecca Foulger gene: H3F3A was added
gene: H3F3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: H3F3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: H3F3A were set to Craniofacial with neurodevelopment disorders
Mode of pathogenicity for gene: H3F3A was set to Other - please provide details in the comments
DDG2P v0.1 GUCY2C Rebecca Foulger gene: GUCY2C was added
gene: GUCY2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GUCY2C was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to MECONIUM ILEUS
DDG2P v0.1 GTPBP3 Rebecca Foulger gene: GTPBP3 was added
gene: GTPBP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP3 were set to 25434004
Phenotypes for gene: GTPBP3 were set to MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY
DDG2P v0.1 GTF2H5 Rebecca Foulger gene: GTF2H5 was added
gene: GTF2H5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675
DDG2P v0.1 GTF2E2 Rebecca Foulger gene: GTF2E2 was added
gene: GTF2E2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GTF2E2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2E2 were set to 26996949
Phenotypes for gene: GTF2E2 were set to DNA Repair-Proficient Trichothiodystrophy
Mode of pathogenicity for gene: GTF2E2 was set to Other - please provide details in the comments
DDG2P v0.1 GRIN2D Rebecca Foulger gene: GRIN2D was added
gene: GRIN2D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIN2D were set to 27616483
Phenotypes for gene: GRIN2D were set to Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
Mode of pathogenicity for gene: GRIN2D was set to Other - please provide details in the comments
DDG2P v0.1 GRIN2B Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GRIN2B
Publications for gene GRIN2B were changed from 20890276; 23160955; 23033978 to 23934111
DDG2P v0.1 GRIN2A Rebecca Foulger gene: GRIN2A was added
gene: GRIN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIN2A were set to 20890276; 23033978
Phenotypes for gene: GRIN2A were set to EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971
DDG2P v0.1 GRIN1 Rebecca Foulger gene: GRIN1 was added
gene: GRIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIN1 were set to 23934111; 27164704
Phenotypes for gene: GRIN1 were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: GRIN1 was set to Other - please provide details in the comments
DDG2P v0.1 GRHL2 Rebecca Foulger gene: GRHL2 was added
gene: GRHL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHL2 were set to ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029
Mode of pathogenicity for gene: GRHL2 was set to Other - please provide details in the comments
DDG2P v0.1 GNB1 Rebecca Foulger gene: GNB1 was added
gene: GNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB1 were set to 27108799; 30194818
Phenotypes for gene: GNB1 were set to Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Mode of pathogenicity for gene: GNB1 was set to Other - please provide details in the comments
DDG2P v0.1 GNAS Rebecca Foulger Added phenotypes ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 for gene: GNAS
DDG2P v0.1 GNAS Rebecca Foulger gene: GNAS was added
gene: GNAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAS were set to 11029463; 15592469; 18182455
Phenotypes for gene: GNAS were set to PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233
DDG2P v0.1 GNAQ Rebecca Foulger gene: GNAQ was added
gene: GNAQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAQ were set to 27058448
Phenotypes for gene: GNAQ were set to Congenital Hemangioma
Mode of pathogenicity for gene: GNAQ was set to Other - please provide details in the comments
DDG2P v0.1 GNAO1 Rebecca Foulger gene: GNAO1 was added
gene: GNAO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 23993195
Phenotypes for gene: GNAO1 were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 GNAI3 Rebecca Foulger gene: GNAI3 was added
gene: GNAI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNAI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI3 were set to 11102934
Phenotypes for gene: GNAI3 were set to AURICULOCONDYLAR SYNDROME 602483
Mode of pathogenicity for gene: GNAI3 was set to Other - please provide details in the comments
DDG2P v0.1 GNA14 Rebecca Foulger gene: GNA14 was added
gene: GNA14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNA14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNA14 were set to 27476652
Phenotypes for gene: GNA14 were set to Congenital vascular tumours
Mode of pathogenicity for gene: GNA14 was set to Other - please provide details in the comments
DDG2P v0.1 GNA11 Rebecca Foulger gene: GNA11 was added
gene: GNA11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNA11 were set to 27058448
Phenotypes for gene: GNA11 were set to Congenital Hemangioma
Mode of pathogenicity for gene: GNA11 was set to Other - please provide details in the comments
DDG2P v0.1 GMPPB Rebecca Foulger gene: GMPPB was added
gene: GMPPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPB were set to 23768512
Phenotypes for gene: GMPPB were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350
Mode of pathogenicity for gene: GMPPB was set to Other - please provide details in the comments
DDG2P v0.1 GMNN Rebecca Foulger gene: GMNN was added
gene: GMNN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GMNN were set to 26637980
Phenotypes for gene: GMNN were set to Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Mode of pathogenicity for gene: GMNN was set to Other - please provide details in the comments
DDG2P v0.1 GLUL Rebecca Foulger gene: GLUL was added
gene: GLUL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLUL were set to 16267323; 21353613
Phenotypes for gene: GLUL were set to CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015
Mode of pathogenicity for gene: GLUL was set to Other - please provide details in the comments
DDG2P v0.1 GLUD1 Rebecca Foulger gene: GLUD1 was added
gene: GLUD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLUD1 were set to 10636977; 11214910; 9571255
Phenotypes for gene: GLUD1 were set to HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762
Mode of pathogenicity for gene: GLUD1 was set to Other - please provide details in the comments
DDG2P v0.1 GLIS3 Rebecca Foulger gene: GLIS3 was added
gene: GLIS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLIS3 were set to 12966531
Phenotypes for gene: GLIS3 were set to DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199
DDG2P v0.1 GLIS2 Rebecca Foulger gene: GLIS2 was added
gene: GLIS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GLIS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLIS2 were set to 17618285
Phenotypes for gene: GLIS2 were set to NEPHRONOPHTHISIS 7 611498
DDG2P v0.1 GLE1 Rebecca Foulger gene: GLE1 was added
gene: GLE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLE1 were set to 18204449
Phenotypes for gene: GLE1 were set to ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890
Mode of pathogenicity for gene: GLE1 was set to Other - please provide details in the comments
DDG2P v0.1 GLDN Rebecca Foulger gene: GLDN was added
gene: GLDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDN were set to 27616481
Phenotypes for gene: GLDN were set to Lethal arthroogryposis
DDG2P v0.1 GLDC Rebecca Foulger gene: GLDC was added
gene: GLDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDC were set to 445864; 15864413; 9600239; 10798358; 9621520; 11592811; 8005589; 15824356; 15236413; 1634607; 10873393; 15851735
Phenotypes for gene: GLDC were set to GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899
DDG2P v0.1 GJC2 Rebecca Foulger gene: GJC2 was added
gene: GJC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to 20537300
Phenotypes for gene: GJC2 were set to LYMPHEDEMA, HEREDITARY, IC 613480
Mode of pathogenicity for gene: GJC2 was set to Other - please provide details in the comments
DDG2P v0.1 GJB3 Rebecca Foulger gene: GJB3 was added
gene: GJB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: GJB3 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200
DDG2P v0.1 GJB2 Rebecca Foulger Added phenotypes ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME 602540 for gene: GJB2
DDG2P v0.1 GJB2 Rebecca Foulger Added phenotypes PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350 for gene: GJB2
Publications for gene GJB2 were changed from 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464 to 12372058; 10633135; 17993581; 2956987
DDG2P v0.1 GJB2 Rebecca Foulger gene: GJB2 was added
gene: GJB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJB2 were set to 11556849; 15253766; 12121355; 8789457; 9471561; 9336442; 11313763; 10218527; 12239718; 9328482; 9139825; 10633133; 9819448; 10982182; 17660464
Phenotypes for gene: GJB2 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290
DDG2P v0.1 GJA8 Rebecca Foulger gene: GJA8 was added
gene: GJA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJA8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA8 were set to 16604058; 10480374; 18006672; 11846744; 9497259; 14627691
Phenotypes for gene: GJA8 were set to CATARACT ZONULAR PULVERULENT TYPE 1 116200
Mode of pathogenicity for gene: GJA8 was set to Other - please provide details in the comments
DDG2P v0.1 GJA3 Rebecca Foulger gene: GJA3 was added
gene: GJA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GJA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GJA3 were set to 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188
Phenotypes for gene: GJA3 were set to CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885
Mode of pathogenicity for gene: GJA3 was set to Other - please provide details in the comments
DDG2P v0.1 GJA1 Rebecca Foulger gene: GJA1 was added
gene: GJA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 14981729
Phenotypes for gene: GJA1 were set to HALLERMANN-STREIFF SYNDROME 234100
DDG2P v0.1 GFER Rebecca Foulger gene: GFER was added
gene: GFER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522
Phenotypes for gene: GFER were set to MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD 613076
DDG2P v0.1 GFAP Rebecca Foulger gene: GFAP was added
gene: GFAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GFAP were set to 14557587; 12975300; 11567214; 12034796; 11138011; 12447932
Phenotypes for gene: GFAP were set to ALEXANDER DISEASE 203450
Mode of pathogenicity for gene: GFAP was set to Other - please provide details in the comments
DDG2P v0.1 GDF6 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED TYPE 4 613094 for gene: GDF6
Publications for gene GDF6 were changed from 18425797; 19129173 to 19129173
DDG2P v0.1 GDF6 Rebecca Foulger gene: GDF6 was added
gene: GDF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GDF6 were set to 18425797; 19129173
Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1 118100
Mode of pathogenicity for gene: GDF6 was set to Other - please provide details in the comments
DDG2P v0.1 GDF5 Rebecca Foulger Added phenotypes ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250 for gene: GDF5
Publications for gene GDF5 were changed from 16127465; 10080184; 11857750; 11846737; 16892395; 18283415 to 2703235
DDG2P v0.1 GDF5 Rebecca Foulger gene: GDF5 was added
gene: GDF5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDF5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GDF5 were set to 12900894; 9288098; 12124730
Phenotypes for gene: GDF5 were set to ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700
Mode of pathogenicity for gene: GDF5 was set to Other - please provide details in the comments
DDG2P v0.1 GDF3 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703 for gene: GDF3
DDG2P v0.1 GDF3 Rebecca Foulger gene: GDF3 was added
gene: GDF3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GDF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF3 were set to MICROPHTHALMIA ISOLATED TYPE 7 613704
Mode of pathogenicity for gene: GDF3 was set to Other - please provide details in the comments
DDG2P v0.1 GDF1 Rebecca Foulger Added phenotypes TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 for gene: GDF1
DDG2P v0.1 GCSH Rebecca Foulger gene: GCSH was added
gene: GCSH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCSH were set to GLYCINE ENCEPHALOPATHY 605899
DDG2P v0.1 GCH1 Rebecca Foulger gene: GCH1 was added
gene: GCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 7730309; 12552057; 10987649; 9667588
Phenotypes for gene: GCH1 were set to GTP CYCLOHYDROLASE 1 DEFICIENCY 233910
Mode of pathogenicity for gene: GCH1 was set to Other - please provide details in the comments
DDG2P v0.1 GCDH Rebecca Foulger gene: GCDH was added
gene: GCDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 11174631; 8900227; 10699052; 7795610; 8900228
Phenotypes for gene: GCDH were set to GLUTARICACIDEMIA TYPE 1 231670
Mode of pathogenicity for gene: GCDH was set to Other - please provide details in the comments
DDG2P v0.1 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to 23332917
Phenotypes for gene: GBA2 were set to AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY.
DDG2P v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE PERINATAL LETHAL 608013 for gene: GBA
DDG2P v0.1 GAMT Rebecca Foulger gene: GAMT was added
gene: GAMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 17101918; 15651030; 8651275
Phenotypes for gene: GAMT were set to GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736
DDG2P v0.1 GAD1 Rebecca Foulger gene: GAD1 was added
gene: GAD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAD1 were set to 15571623
Phenotypes for gene: GAD1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513
Mode of pathogenicity for gene: GAD1 was set to Other - please provide details in the comments
DDG2P v0.1 GABRG2 Rebecca Foulger Added phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 for gene: GABRG2
Publications for gene GABRG2 were changed from to 11326274
DDG2P v0.1 GABRG2 Rebecca Foulger gene: GABRG2 was added
gene: GABRG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GABRG2 were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277
DDG2P v0.1 GABRB3 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES for gene: GABRB3
Publications for gene GABRB3 were changed from 18514161 to 23934111; 27476654
DDG2P v0.1 GABRB3 Rebecca Foulger gene: GABRB3 was added
gene: GABRB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABRB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRB3 were set to 18514161
Phenotypes for gene: GABRB3 were set to CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269
Mode of pathogenicity for gene: GABRB3 was set to Other - please provide details in the comments
DDG2P v0.1 GABRB2 Rebecca Foulger gene: GABRB2 was added
gene: GABRB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRB2 were set to 29100083
Phenotypes for gene: GABRB2 were set to Epilepsy and intellectual disability
Mode of pathogenicity for gene: GABRB2 was set to Other - please provide details in the comments
DDG2P v0.1 GABRA1 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: GABRA1
Publications for gene GABRA1 were changed from 11992121 to 23934111
DDG2P v0.1 GABBR2 Rebecca Foulger gene: GABBR2 was added
gene: GABBR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GABBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABBR2 were set to 25262651
Phenotypes for gene: GABBR2 were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: GABBR2 was set to Other - please provide details in the comments
DDG2P v0.1 FZD5 Rebecca Foulger gene: FZD5 was added
gene: FZD5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FZD5 were set to 26908622
Phenotypes for gene: FZD5 were set to Autosomal Dominant Coloboma
Mode of pathogenicity for gene: FZD5 was set to Other - please provide details in the comments
DDG2P v0.1 FTO Rebecca Foulger gene: FTO was added
gene: FTO was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTO were set to 19559399
Phenotypes for gene: FTO were set to GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938
Mode of pathogenicity for gene: FTO was set to Other - please provide details in the comments
DDG2P v0.1 FRRS1L Rebecca Foulger gene: FRRS1L was added
gene: FRRS1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRRS1L were set to 27239025; 27236917
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy with continuous spike-and-wave during sleep
DDG2P v0.1 FOXP1 Rebecca Foulger gene: FOXP1 was added
gene: FOXP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP1 were set to 20950788
Phenotypes for gene: FOXP1 were set to MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670
DDG2P v0.1 FOXL2 Rebecca Foulger gene: FOXL2 was added
gene: FOXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FOXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXL2 were set to 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855
Phenotypes for gene: FOXL2 were set to BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100
DDG2P v0.1 FOXF1 Rebecca Foulger gene: FOXF1 was added
gene: FOXF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380
DDG2P v0.1 FOXE3 Rebecca Foulger gene: FOXE3 was added
gene: FOXE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXE3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FOXE3 were set to 11159941
Phenotypes for gene: FOXE3 were set to CONGENITAL PRIMARY APHAKIA 610256
DDG2P v0.1 FOXE1 Rebecca Foulger gene: FOXE1 was added
gene: FOXE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE1 were set to BAMFORTH-LAZARUS SYNDROME 241850
Mode of pathogenicity for gene: FOXE1 was set to Other - please provide details in the comments
DDG2P v0.1 FN1 Rebecca Foulger gene: FN1 was added
gene: FN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FN1 were set to 29100092
Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures
Mode of pathogenicity for gene: FN1 was set to Other - please provide details in the comments
DDG2P v0.1 FMR1 Rebecca Foulger gene: FMR1 was added
gene: FMR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FMR1 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: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME 300623
DDG2P v0.1 FLVCR2 Rebecca Foulger gene: FLVCR2 was added
gene: FLVCR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to 25677735; 20518025; 19635601; 20206334
Phenotypes for gene: FLVCR2 were set to PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790
DDG2P v0.1 FLVCR1 Rebecca Foulger gene: FLVCR1 was added
gene: FLVCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR1 were set to 21070897; 9409377; 21267618
Phenotypes for gene: FLVCR1 were set to ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033
Mode of pathogenicity for gene: FLVCR1 was set to Other - please provide details in the comments
DDG2P v0.1 FLT4 Rebecca Foulger gene: FLT4 was added
gene: FLT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLT4 were set to 12960217; 10835628; 16965327; 10856194; 19289394; 16924388
Phenotypes for gene: FLT4 were set to MILROY DISEASE 153100
Mode of pathogenicity for gene: FLT4 was set to Other - please provide details in the comments
DDG2P v0.1 FLNB Rebecca Foulger gene: FLNB was added
gene: FLNB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLNB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FLNB were set to 18257094; 14991055; 18386804
Phenotypes for gene: FLNB were set to SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460
DDG2P v0.1 FLNA Rebecca Foulger Added phenotypes X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048 for gene: FLNA
Publications for gene FLNA were changed from 12612583 to 23037936; 8644737
DDG2P v0.1 FLNA Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: FLNA
Publications for gene FLNA were changed from 15654694; 15940695; 12612583; 16596676 to 23934111
DDG2P v0.1 FLNA Rebecca Foulger gene: FLNA was added
gene: FLNA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLNA was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: FLNA were set to 15654694; 15940695; 12612583; 16596676
Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1 311300
DDG2P v0.1 FLG Rebecca Foulger gene: FLG was added
gene: FLG was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FLG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLG were set to 16444271; 17291859
Phenotypes for gene: FLG were set to ICHTHYOSIS VULGARIS 146700
DDG2P v0.1 FKTN Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800 for gene: FKTN
Publications for gene FKTN were changed from 17036286 to 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207
DDG2P v0.1 FKTN Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED TYPE 1X 611615 for gene: FKTN
Publications for gene FKTN were changed from 19342235; 17044012 to 17036286
DDG2P v0.1 FKTN Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588 for gene: FKTN
Publications for gene FKTN were changed from to 19342235; 17044012
DDG2P v0.1 FKTN Rebecca Foulger gene: FKTN was added
gene: FKTN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152
DDG2P v0.1 FKRP Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 for gene: FKRP
Publications for gene FKRP were changed from 15121789 to 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680
DDG2P v0.1 FKRP Rebecca Foulger Added phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 for gene: FKRP
Publications for gene FKRP were changed from 11741828; 14523375; 12707439; 14647208 to 15121789
DDG2P v0.1 FKRP Rebecca Foulger gene: FKRP was added
gene: FKRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to 11741828; 14523375; 12707439; 14647208
Phenotypes for gene: FKRP were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155
DDG2P v0.1 FKBP14 Rebecca Foulger gene: FKBP14 was added
gene: FKBP14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS
DDG2P v0.1 FIG4 Rebecca Foulger Added phenotypes CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 for gene: FIG4
Publications for gene FIG4 were changed from 17572665 to 2319578; 7496176; 23623387
DDG2P v0.1 FIG4 Rebecca Foulger gene: FIG4 was added
gene: FIG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 17572665
Phenotypes for gene: FIG4 were set to CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228
DDG2P v0.1 FGFR3 Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 1 187600 for gene: FGFR3
Publications for gene FGFR3 were changed from 7670477; 16912704; 10215410; 9452043; 11055896; 8589686 to 7773297; 19449430; 8845844; 7647778
DDG2P v0.1 FGFR3 Rebecca Foulger Added phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 for gene: FGFR3
Publications for gene FGFR3 were changed from 7758520; 16411219; 8078586; 16912704; 7913883 to 7773297
DDG2P v0.1 FGFR3 Rebecca Foulger Added phenotypes CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 for gene: FGFR3
Publications for gene FGFR3 were changed from to 7493034
DDG2P v0.1 FGFR3 Rebecca Foulger gene: FGFR3 was added
gene: FGFR3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGFR3 were set to LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730
Mode of pathogenicity for gene: FGFR3 was set to Other - please provide details in the comments
DDG2P v0.1 FGFR2 Rebecca Foulger gene: FGFR2 was added
gene: FGFR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR2 were set to 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757
Phenotypes for gene: FGFR2 were set to CROUZON SYNDROME 123500
Mode of pathogenicity for gene: FGFR2 was set to Other - please provide details in the comments
DDG2P v0.1 FGFR1 Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 for gene: FGFR1
Publications for gene FGFR1 were changed from 9586546; 9150725; 11807866; 8434615; 9002682; 10945669; 7874169; 8841188; 7719345; 10394936; 15523615 to 12627230
DDG2P v0.1 FGF3 Rebecca Foulger gene: FGF3 was added
gene: FGF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF3 were set to 18701883; 18435799; 17236138; 21480479
Phenotypes for gene: FGF3 were set to DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706
DDG2P v0.1 FGF12 Rebecca Foulger gene: FGF12 was added
gene: FGF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF12 were set to 27830185; 27164707; 27872899
Phenotypes for gene: FGF12 were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: FGF12 was set to Other - please provide details in the comments
DDG2P v0.1 FEZF1 Rebecca Foulger gene: FEZF1 was added
gene: FEZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FEZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FEZF1 were set to 25192046
Phenotypes for gene: FEZF1 were set to HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA 616030
DDG2P v0.1 FBXW4 Rebecca Foulger gene: FBXW4 was added
gene: FBXW4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FBXW4 were set to SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560
Mode of pathogenicity for gene: FBXW4 was set to part of contiguous gene duplication
DDG2P v0.1 FBXO25 Rebecca Foulger gene: FBXO25 was added
gene: FBXO25 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FBXO25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FBXO25 were set to F-BOX ONLY PROTEIN 25 609098
Mode of pathogenicity for gene: FBXO25 was set to Other - please provide details in the comments
DDG2P v0.1 FBXL4 Rebecca Foulger gene: FBXL4 was added
gene: FBXL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXL4 were set to 23993194
Phenotypes for gene: FBXL4 were set to FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE
DDG2P v0.1 FBN2 Rebecca Foulger gene: FBN2 was added
gene: FBN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527
Phenotypes for gene: FBN2 were set to CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050
Mode of pathogenicity for gene: FBN2 was set to Other - please provide details in the comments
DDG2P v0.1 FBN1 Rebecca Foulger gene: FBN1 was added
gene: FBN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FBN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN1 were set to 17568394; 17366579; 16333834; 7611299; 10766875; 8136837; 1631074; 8428751; 11702223; 7762551; 8040326; 8281141; 15032979; 1301946; 1569206; 10441597; 11175294; 20979188; 8430317; 9101298; 9241263; 7911051; 9837823; 1852208; 8504310; 8101042; 21594993; 20082464; 15287423; 21594992; 18412115; 17492313; 8406497; 7633409
Phenotypes for gene: FBN1 were set to MARFAN SYNDROME 154700
DDG2P v0.1 FBLN1 Rebecca Foulger gene: FBLN1 was added
gene: FBLN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FBLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN1 were set to SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180
Mode of pathogenicity for gene: FBLN1 was set to Other - please provide details in the comments
DDG2P v0.1 FASN Rebecca Foulger gene: FASN was added
gene: FASN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FASN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASN were set to 21937992
Phenotypes for gene: FASN were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: FASN was set to Other - please provide details in the comments
DDG2P v0.1 FAM111A Rebecca Foulger gene: FAM111A was added
gene: FAM111A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM111A were set to 23684011
Phenotypes for gene: FAM111A were set to KENNY-CAFFEY SYNDROME 127000
Mode of pathogenicity for gene: FAM111A was set to Other - please provide details in the comments
DDG2P v0.1 EZH2 Rebecca Foulger gene: EZH2 was added
gene: EZH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to WEAVER SYNDROME 2 614421
Mode of pathogenicity for gene: EZH2 was set to Other - please provide details in the comments
DDG2P v0.1 EXOSC3 Rebecca Foulger gene: EXOSC3 was added
gene: EXOSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
Mode of pathogenicity for gene: EXOSC3 was set to Other - please provide details in the comments
DDG2P v0.1 ETHE1 Rebecca Foulger gene: ETHE1 was added
gene: ETHE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETHE1 were set to 14732903; 20528888; 18593870
Phenotypes for gene: ETHE1 were set to ETHYLMALONIC ENCEPHALOPATHY 602473
DDG2P v0.1 ERLIN2 Rebecca Foulger gene: ERLIN2 was added
gene: ERLIN2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ERLIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 21937992
Phenotypes for gene: ERLIN2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ERLIN2 was set to Other - please provide details in the comments
DDG2P v0.1 ERCC3 Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 for gene: ERCC3
DDG2P v0.1 ERCC2 Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 for gene: ERCC2
Publications for gene ERCC2 were changed from 9101292; 7849702; 7585650; 11443545; 11709541 to 9758621; 15220921; 7920640; 8571952; 9195225; 9012405
DDG2P v0.1 ERBB3 Rebecca Foulger Added phenotypes Hirschprung disease with intestinal pseudo-obstruction for gene: ERBB3
DDG2P v0.1 ERBB3 Rebecca Foulger gene: ERBB3 was added
gene: ERBB3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERBB3 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598
Mode of pathogenicity for gene: ERBB3 was set to Other - please provide details in the comments
DDG2P v0.1 EPG5 Rebecca Foulger gene: EPG5 was added
gene: EPG5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 3344762
Phenotypes for gene: EPG5 were set to IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840
DDG2P v0.1 EPB41L1 Rebecca Foulger gene: EPB41L1 was added
gene: EPB41L1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPB41L1 were set to 21376300
Phenotypes for gene: EPB41L1 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: EPB41L1 was set to Other - please provide details in the comments
DDG2P v0.1 ENTPD1 Rebecca Foulger gene: ENTPD1 was added
gene: ENTPD1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to 21937992
Phenotypes for gene: ENTPD1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ENTPD1 was set to Other - please provide details in the comments
DDG2P v0.1 EMG1 Rebecca Foulger gene: EMG1 was added
gene: EMG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMG1 were set to 26676230; 19463982; 25708872; 27798105
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome
Mode of pathogenicity for gene: EMG1 was set to Other - please provide details in the comments
DDG2P v0.1 EMC1 Rebecca Foulger gene: EMC1 was added
gene: EMC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EMC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: EMC1 were set to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
DDG2P v0.1 ELP2 Rebecca Foulger gene: ELP2 was added
gene: ELP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELP2 were set to 21937992
Phenotypes for gene: ELP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ELP2 was set to Other - please provide details in the comments
DDG2P v0.1 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELOVL4 were set to 22100072
Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
DDG2P v0.1 ELAC2 Rebecca Foulger gene: ELAC2 was added
gene: ELAC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELAC2 were set to 23849775; 27769300
Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010
DDG2P v0.1 EIF4A3 Rebecca Foulger gene: EIF4A3 was added
gene: EIF4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF4A3 were set to 24360810
Phenotypes for gene: EIF4A3 were set to RICHIERI-COSTA-PEREIRA SYNDROME
Mode of pathogenicity for gene: EIF4A3 was set to Other - please provide details in the comments
DDG2P v0.1 EIF2S3 Rebecca Foulger gene: EIF2S3 was added
gene: EIF2S3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EIF2S3 were set to 27333055; 23063529
Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly
DDG2P v0.1 EGR2 Rebecca Foulger gene: EGR2 was added
gene: EGR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EGR2 were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253
DDG2P v0.1 EFTUD2 Rebecca Foulger gene: EFTUD2 was added
gene: EFTUD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EFTUD2 were set to 22541558; 16760738; 19334086; 22305528; 23188108
Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536
DDG2P v0.1 EEF1A2 Rebecca Foulger gene: EEF1A2 was added
gene: EEF1A2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF1A2 were set to 23647072
Phenotypes for gene: EEF1A2 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: EEF1A2 was set to Other - please provide details in the comments
DDG2P v0.1 EED Rebecca Foulger gene: EED was added
gene: EED was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EED were set to 28475857; 27193220; 25787343; 27868325
Phenotypes for gene: EED were set to Weaver-like overgrowth syndrome
Mode of pathogenicity for gene: EED was set to Other - please provide details in the comments
DDG2P v0.1 EDNRA Rebecca Foulger gene: EDNRA was added
gene: EDNRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EDNRA were set to 25772936
Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Mode of pathogenicity for gene: EDNRA was set to Other - please provide details in the comments
DDG2P v0.1 EDN1 Rebecca Foulger gene: EDN1 was added
gene: EDN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EDN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN1 were set to 24268655
Phenotypes for gene: EDN1 were set to AURICULOCONDYLAR SYNDROME 602483
DDG2P v0.1 EDAR Rebecca Foulger gene: EDAR was added
gene: EDAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDAR was set to
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
DDG2P v0.1 EDA Rebecca Foulger Added phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500 for gene: EDA
Publications for gene EDA were changed from 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260 to 18657636; 17256800; 16583127
DDG2P v0.1 ECEL1 Rebecca Foulger gene: ECEL1 was added
gene: ECEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECEL1 were set to 23261301
Phenotypes for gene: ECEL1 were set to DISTAL ARTHROGRYPOSIS TYPE 5D 615065
DDG2P v0.1 EBP Rebecca Foulger gene: EBP was added
gene: EBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EBP were set to 10942423; 10391218; 10391219; 11038443; 12503101
Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960
DDG2P v0.1 DYNC2H1 Rebecca Foulger gene: DYNC2H1 was added
gene: DYNC2H1 was added to DDG2P. Sources:
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 19442771
Phenotypes for gene: DYNC2H1 were set to ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091
DDG2P v0.1 DYNC1H1 Rebecca Foulger Added phenotypes SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112 for gene: DYNC1H1
DDG2P v0.1 DYNC1H1 Rebecca Foulger gene: DYNC1H1 was added
gene: DYNC1H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYNC1H1 were set to 22459677
Phenotypes for gene: DYNC1H1 were set to SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600
Mode of pathogenicity for gene: DYNC1H1 was set to Other - please provide details in the comments
DDG2P v0.1 DYM Rebecca Foulger gene: DYM was added
gene: DYM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYM were set to 19005420; 12491225
Phenotypes for gene: DYM were set to SMITH-MCCORT DYSPLASIA 607326
DDG2P v0.1 DVL3 Rebecca Foulger gene: DVL3 was added
gene: DVL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DVL3 were set to 26924530
Phenotypes for gene: DVL3 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Mode of pathogenicity for gene: DVL3 was set to Other - please provide details in the comments
DDG2P v0.1 DVL1 Rebecca Foulger gene: DVL1 was added
gene: DVL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DVL1 were set to 25817016
Phenotypes for gene: DVL1 were set to AUTOSOMAL-DOMINANT ROBINOW SYNDROME
Mode of pathogenicity for gene: DVL1 was set to Other - please provide details in the comments
DDG2P v0.1 DSPP Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 for gene: DSPP
DDG2P v0.1 DSPP Rebecca Foulger gene: DSPP was added
gene: DSPP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSPP were set to 11175790
Phenotypes for gene: DSPP were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594
DDG2P v0.1 DSE Rebecca Foulger gene: DSE was added
gene: DSE was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSE were set to 23704329
Phenotypes for gene: DSE were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539
Mode of pathogenicity for gene: DSE was set to Other - please provide details in the comments
DDG2P v0.1 DPF2 Rebecca Foulger gene: DPF2 was added
gene: DPF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DPF2 were set to 29429572
Phenotypes for gene: DPF2 were set to Coffin Siris like disorder
Mode of pathogenicity for gene: DPF2 was set to Other - please provide details in the comments
DDG2P v0.1 DPAGT1 Rebecca Foulger gene: DPAGT1 was added
gene: DPAGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPAGT1 were set to 22742743
Phenotypes for gene: DPAGT1 were set to MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750
DDG2P v0.1 DOLK Rebecca Foulger gene: DOLK was added
gene: DOLK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 17273964; 22242004
Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
Mode of pathogenicity for gene: DOLK was set to Other - please provide details in the comments
DDG2P v0.1 DOCK7 Rebecca Foulger gene: DOCK7 was added
gene: DOCK7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK7 were set to 24814191
Phenotypes for gene: DOCK7 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859
DDG2P v0.1 DNMT3A Rebecca Foulger gene: DNMT3A was added
gene: DNMT3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT3A were set to 24614070
Phenotypes for gene: DNMT3A were set to OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY 615879
DDG2P v0.1 DNM1 Rebecca Foulger gene: DNM1 was added
gene: DNM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DNM1 were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: DNM1 was set to Other - please provide details in the comments
DDG2P v0.1 DNAAF5 Rebecca Foulger gene: DNAAF5 was added
gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF5 were set to 23040496
Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874
Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments
DDG2P v0.1 DMPK Rebecca Foulger gene: DMPK was added
gene: DMPK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DMPK were set to DYSTROPHIA MYOTONICA TYPE 1 160900
Mode of pathogenicity for gene: DMPK was set to Other - please provide details in the comments
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 for gene: DMD
Publications for gene DMD were changed from 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 to 8789442; 8361506; 9683584; 9170407
DDG2P v0.1 DLX5 Rebecca Foulger gene: DLX5 was added
gene: DLX5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DLX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLX5 were set to 22121204
Phenotypes for gene: DLX5 were set to SPLIT HAND AND FOOT MALFORMATION 220600
Mode of pathogenicity for gene: DLX5 was set to Other - please provide details in the comments
DDG2P v0.1 DIP2B Rebecca Foulger gene: DIP2B was added
gene: DIP2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DIP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DIP2B were set to 17236128
Phenotypes for gene: DIP2B were set to MENTAL RETARDATION, FRA12A TYPE 136630
Mode of pathogenicity for gene: DIP2B was set to Other - please provide details in the comments
DDG2P v0.1 DHX30 Rebecca Foulger gene: DHX30 was added
gene: DHX30 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX30 were set to 29100085
Phenotypes for gene: DHX30 were set to Neurodevelopmental Disorder
Mode of pathogenicity for gene: DHX30 was set to Other - please provide details in the comments
DDG2P v0.1 DHRS3 Rebecca Foulger gene: DHRS3 was added
gene: DHRS3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHRS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHRS3 were set to DHRS3 related craniosynostosis
Mode of pathogenicity for gene: DHRS3 was set to Other - please provide details in the comments
DDG2P v0.1 DHFR Rebecca Foulger gene: DHFR was added
gene: DHFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHFR were set to 21310277; 21310276
Phenotypes for gene: DHFR were set to MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839
Mode of pathogenicity for gene: DHFR was set to Other - please provide details in the comments
DDG2P v0.1 DHDDS Rebecca Foulger gene: DHDDS was added
gene: DHDDS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHDDS were set to 29100083
Phenotypes for gene: DHDDS were set to Epilepsy and intellectual disability
Mode of pathogenicity for gene: DHDDS was set to Other - please provide details in the comments
DDG2P v0.1 DHCR7 Rebecca Foulger gene: DHCR7 was added
gene: DHCR7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533
Phenotypes for gene: DHCR7 were set to SMITH-LEMLI-OPITZ SYNDROME 270400
DDG2P v0.1 DEPDC5 Rebecca Foulger gene: DEPDC5 was added
gene: DEPDC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DEPDC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DEPDC5 were set to 9851433; 14510823; 23542701; 15329069; 10825362; 10577924
Phenotypes for gene: DEPDC5 were set to FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364
DDG2P v0.1 DENND5A Rebecca Foulger gene: DENND5A was added
gene: DENND5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DENND5A were set to 27866705
Phenotypes for gene: DENND5A were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 DEAF1 Rebecca Foulger gene: DEAF1 was added
gene: DEAF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DEAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DEAF1 were set to 24726472; 21076407
Phenotypes for gene: DEAF1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Mode of pathogenicity for gene: DEAF1 was set to Other - please provide details in the comments
DDG2P v0.1 DDX6 Rebecca Foulger gene: DDX6 was added
gene: DDX6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DDX6 were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: DDX6 was set to Other - please provide details in the comments
DDG2P v0.1 DDX59 Rebecca Foulger gene: DDX59 was added
gene: DDX59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 23972372
Phenotypes for gene: DDX59 were set to OROFACIODIGITAL SYNDROME
Mode of pathogenicity for gene: DDX59 was set to Other - please provide details in the comments
DDG2P v0.1 DDX58 Rebecca Foulger gene: DDX58 was added
gene: DDX58 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DDX58 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX58 were set to 25620203
Phenotypes for gene: DDX58 were set to SINGLETON-MERTEN SYNDROME 182250
Mode of pathogenicity for gene: DDX58 was set to Other - please provide details in the comments
DDG2P v0.1 DDX3X Rebecca Foulger gene: DDX3X was added
gene: DDX3X was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DDX3X were set to 25533962
Phenotypes for gene: DDX3X were set to INTELLECTUAL DIABILITY
DDG2P v0.1 DDR2 Rebecca Foulger gene: DDR2 was added
gene: DDR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDR2 were set to 19110212; 8434618
Phenotypes for gene: DDR2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665
Mode of pathogenicity for gene: DDR2 was set to Other - please provide details in the comments
DDG2P v0.1 DCX Rebecca Foulger gene: DCX was added
gene: DCX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DCX was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DCX were set to 11468322; 12552055; 10441340; 9489699; 9489700
Phenotypes for gene: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067
DDG2P v0.1 DCDC2 Rebecca Foulger gene: DCDC2 was added
gene: DCDC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCDC2 were set to 25557784
Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY 616217
DDG2P v0.1 DARS2 Rebecca Foulger gene: DARS2 was added
gene: DARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS2 were set to 17384640
Phenotypes for gene: DARS2 were set to LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
DDG2P v0.1 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384
Phenotypes for gene: DARS were set to HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281
Mode of pathogenicity for gene: DARS was set to Other - please provide details in the comments
DDG2P v0.1 DAG1 Rebecca Foulger gene: DAG1 was added
gene: DAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAG1 were set to 21388311
Phenotypes for gene: DAG1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818
Mode of pathogenicity for gene: DAG1 was set to Other - please provide details in the comments
DDG2P v0.1 CYP1B1 Rebecca Foulger gene: CYP1B1 was added
gene: CYP1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP1B1 were set to 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971
Phenotypes for gene: CYP1B1 were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
Mode of pathogenicity for gene: CYP1B1 was set to Other - please provide details in the comments
DDG2P v0.1 CYC1 Rebecca Foulger gene: CYC1 was added
gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYC1 were set to 23910460
Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453
Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments
DDG2P v0.1 CYB5R3 Rebecca Foulger gene: CYB5R3 was added
gene: CYB5R3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395
DDG2P v0.1 CUX2 Rebecca Foulger gene: CUX2 was added
gene: CUX2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CUX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX2 were set to 29630738
Phenotypes for gene: CUX2 were set to Developmental epileptic encephalopathy
Mode of pathogenicity for gene: CUX2 was set to Other - please provide details in the comments
DDG2P v0.1 CTNS Rebecca Foulger Added phenotypes CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 for gene: CTNS
Publications for gene CTNS were changed from 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275 to 19863563; 10556299; 10444339
DDG2P v0.1 CTNS Rebecca Foulger Added phenotypes CYSTINOSIS NEPHROPATHIC TYPE 219800 for gene: CTNS
Publications for gene CTNS were changed from 10625078; 11505338 to 9792862; 9537412; 11505338; 10556299; 12442267; 11565547; 10673275
DDG2P v0.1 CTNS Rebecca Foulger gene: CTNS was added
gene: CTNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 10625078; 11505338
Phenotypes for gene: CTNS were set to CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750
DDG2P v0.1 CTDP1 Rebecca Foulger gene: CTDP1 was added
gene: CTDP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTDP1 were set to 14517542
Phenotypes for gene: CTDP1 were set to CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
DDG2P v0.1 CTC1 Rebecca Foulger gene: CTC1 was added
gene: CTC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22267198; 22387016
Phenotypes for gene: CTC1 were set to CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199
DDG2P v0.1 CSTA Rebecca Foulger gene: CSTA was added
gene: CSTA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTA were set to 21944047
Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936
DDG2P v0.1 CSPP1 Rebecca Foulger gene: CSPP1 was added
gene: CSPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360808
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY
DDG2P v0.1 CSNK2A1 Rebecca Foulger gene: CSNK2A1 was added
gene: CSNK2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2A1 were set to CSNK2A1 syndrome
Mode of pathogenicity for gene: CSNK2A1 was set to Other - please provide details in the comments
DDG2P v0.1 CSNK1G1 Rebecca Foulger gene: CSNK1G1 was added
gene: CSNK1G1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSNK1G1 were set to 24463883
Phenotypes for gene: CSNK1G1 were set to EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY
Mode of pathogenicity for gene: CSNK1G1 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBB3 Rebecca Foulger gene: CRYBB3 was added
gene: CRYBB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRYBB3 were set to 15914629
Phenotypes for gene: CRYBB3 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741
Mode of pathogenicity for gene: CRYBB3 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBB1 Rebecca Foulger gene: CRYBB1 was added
gene: CRYBB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were set to 12360425; 17460281
Phenotypes for gene: CRYBB1 were set to CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544
DDG2P v0.1 CRYBA4 Rebecca Foulger Added phenotypes MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 for gene: CRYBA4
Publications for gene CRYBA4 were changed from 16960806; 15452067 to 16960806
DDG2P v0.1 CRYBA4 Rebecca Foulger gene: CRYBA4 was added
gene: CRYBA4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYBA4 were set to 16960806; 15452067
Phenotypes for gene: CRYBA4 were set to CATARACT ZONULAR TYPE 2 610425
Mode of pathogenicity for gene: CRYBA4 was set to Other - please provide details in the comments
DDG2P v0.1 CRYBA1 Rebecca Foulger gene: CRYBA1 was added
gene: CRYBA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYBA1 were set to 14598164
Phenotypes for gene: CRYBA1 were set to CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881
DDG2P v0.1 CRYAB Rebecca Foulger Added phenotypes MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED 613869 for gene: CRYAB
Publications for gene CRYAB were changed from 11577372 to 21337604
DDG2P v0.1 CRYAB Rebecca Foulger gene: CRYAB was added
gene: CRYAB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRYAB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYAB were set to 11577372
Phenotypes for gene: CRYAB were set to CATARACT POSTERIOR POLAR TYPE 2 613763
DDG2P v0.1 CRYAA Rebecca Foulger gene: CRYAA was added
gene: CRYAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYAA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYAA were set to 11006246
Phenotypes for gene: CRYAA were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580
DDG2P v0.1 CRKL Rebecca Foulger gene: CRKL was added
gene: CRKL was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRKL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRKL were set to Bladder exstrophy plus
Mode of pathogenicity for gene: CRKL was set to Other - please provide details in the comments
DDG2P v0.1 CRIPT Rebecca Foulger gene: CRIPT was added
gene: CRIPT was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIPT were set to 24389050
Phenotypes for gene: CRIPT were set to SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789
DDG2P v0.1 CRIM1 Rebecca Foulger gene: CRIM1 was added
gene: CRIM1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRIM1 were set to 25561690
Phenotypes for gene: CRIM1 were set to Colobomatous macrophthalmia with microcornea syndrome
DDG2P v0.1 CRELD1 Rebecca Foulger gene: CRELD1 was added
gene: CRELD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRELD1 were set to HETEROTAXY SYNDROME 207574
Mode of pathogenicity for gene: CRELD1 was set to Other - please provide details in the comments
DDG2P v0.1 CREBBP Rebecca Foulger Added phenotypes CREBBP intellectual disability without typical RTS features for gene: CREBBP
Publications for gene CREBBP were changed from 12114483; 12566391; 7630403; 11331617; 20684013 to 27311832
DDG2P v0.1 CRB2 Rebecca Foulger gene: CRB2 was added
gene: CRB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Phenotypes for gene: CRB2 were set to VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730
DDG2P v0.1 CRADD Rebecca Foulger Added phenotypes Megalencephaly with Variant Lissencephaly for gene: CRADD
Publications for gene CRADD were changed from 22279524 to 27773430
DDG2P v0.1 CRADD Rebecca Foulger gene: CRADD was added
gene: CRADD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRADD were set to 22279524
Phenotypes for gene: CRADD were set to MENTAL RETARDATION, NON-SYNDROMIC 614499
Mode of pathogenicity for gene: CRADD was set to Other - please provide details in the comments
DDG2P v0.1 CPS1 Rebecca Foulger gene: CPS1 was added
gene: CPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPS1 were set to 8486760; 11474210; 9711878; 17310273; 19793055
Phenotypes for gene: CPS1 were set to CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300
DDG2P v0.1 COX7B Rebecca Foulger gene: COX7B was added
gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: COX7B were set to 23122588; 9747372
Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887
DDG2P v0.1 COX10 Rebecca Foulger gene: COX10 was added
gene: COX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX10 were set to 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378
Phenotypes for gene: COX10 were set to LEIGH SYNDROME 256000
Mode of pathogenicity for gene: COX10 was set to Other - please provide details in the comments
DDG2P v0.1 COQ5 Rebecca Foulger gene: COQ5 was added
gene: COQ5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 21937992
Phenotypes for gene: COQ5 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: COQ5 was set to Other - please provide details in the comments
DDG2P v0.1 COMP Rebecca Foulger gene: COMP was added
gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170
Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments
DDG2P v0.1 COL9A3 Rebecca Foulger gene: COL9A3 was added
gene: COL9A3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL9A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL9A3 were set to 10655510; 15551337; 10090888
Phenotypes for gene: COL9A3 were set to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
Mode of pathogenicity for gene: COL9A3 was set to Other - please provide details in the comments
DDG2P v0.1 COL9A2 Rebecca Foulger gene: COL9A2 was added
gene: COL9A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL9A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A2 were set to 21671392
Phenotypes for gene: COL9A2 were set to STICKLER SYNDROME, TYPE V 614284
DDG2P v0.1 COL9A1 Rebecca Foulger gene: COL9A1 was added
gene: COL9A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL9A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A1 were set to 16909383
Phenotypes for gene: COL9A1 were set to STICKLER SYNDROME TYPE 4 614134
DDG2P v0.1 COL6A1 Rebecca Foulger gene: COL6A1 was added
gene: COL6A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL6A1 were set to COL6A1 associated myopathy
Mode of pathogenicity for gene: COL6A1 was set to Other - please provide details in the comments
DDG2P v0.1 COL4A3BP Rebecca Foulger gene: COL4A3BP was added
gene: COL4A3BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A3BP were set to 25533962
Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: COL4A3BP was set to Other - please provide details in the comments
DDG2P v0.1 COL4A3 Rebecca Foulger gene: COL4A3 was added
gene: COL4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL4A3 were set to 7633417; 7987396; 7987301; 9792860
Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
DDG2P v0.1 COL4A2 Rebecca Foulger gene: COL4A2 was added
gene: COL4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A2 were set to PORENCEPHALY 2 614483
Mode of pathogenicity for gene: COL4A2 was set to Other - please provide details in the comments
DDG2P v0.1 COL4A1 Rebecca Foulger gene: COL4A1 was added
gene: COL4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to PORENCEPHALY 1 175780
Mode of pathogenicity for gene: COL4A1 was set to Other - please provide details in the comments
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 for gene: COL2A1
Publications for gene COL2A1 were changed from 1429602; 15054848; 1374906; 7829510; 3195588; 7757081 to 14729840
DDG2P v0.1 COL1A1 Rebecca Foulger gene: COL1A1 was added
gene: COL1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL1A1 were set to 3082886; 18409203; 9295084
Phenotypes for gene: COL1A1 were set to EHLERS-DANLOS SYNDROME TYPE VIIA 319158
Mode of pathogenicity for gene: COL1A1 was set to Other - please provide details in the comments
DDG2P v0.1 COL13A1 Rebecca Foulger gene: COL13A1 was added
gene: COL13A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL13A1 were set to 26626625
Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19
DDG2P v0.1 COL11A2 Rebecca Foulger gene: COL11A2 was added
gene: COL11A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL11A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL11A2 were set to 10677296; 7859284; 16637051; 16189708
Phenotypes for gene: COL11A2 were set to AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150
Mode of pathogenicity for gene: COL11A2 was set to Other - please provide details in the comments
DDG2P v0.1 COL11A1 Rebecca Foulger gene: COL11A1 was added
gene: COL11A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL11A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL11A1 were set to 21035103
Phenotypes for gene: COL11A1 were set to FIBROCHONDROGENESIS 228520
DDG2P v0.1 COL10A1 Rebecca Foulger gene: COL10A1 was added
gene: COL10A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL10A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL10A1 were set to 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716
Phenotypes for gene: COL10A1 were set to SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500
Mode of pathogenicity for gene: COL10A1 was set to Other - please provide details in the comments
DDG2P v0.1 COASY Rebecca Foulger gene: COASY was added
gene: COASY was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 24360804
Phenotypes for gene: COASY were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
DDG2P v0.1 CNTNAP1 Rebecca Foulger gene: CNTNAP1 was added
gene: CNTNAP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP1 were set to 24319099
Phenotypes for gene: CNTNAP1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286
DDG2P v0.1 CNKSR2 Rebecca Foulger gene: CNKSR2 was added
gene: CNKSR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CNKSR2 were set to 22511892; 25644381
Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY
DDG2P v0.1 CLTC Rebecca Foulger gene: CLTC was added
gene: CLTC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLTC were set to 26822784
Phenotypes for gene: CLTC were set to Overgrowth intellectual disability
DDG2P v0.1 CLPP Rebecca Foulger gene: CLPP was added
gene: CLPP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340
Phenotypes for gene: CLPP were set to PERRAULT SYNDROME
Mode of pathogenicity for gene: CLPP was set to Other - please provide details in the comments
DDG2P v0.1 CLPB Rebecca Foulger gene: CLPB was added
gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 25597510
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
DDG2P v0.1 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803
Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments
DDG2P v0.1 CLN8 Rebecca Foulger Added phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 for gene: CLN8
Publications for gene CLN8 were changed from 16570191; 19431184 to 10508524
DDG2P v0.1 CLIC2 Rebecca Foulger gene: CLIC2 was added
gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLIC2 were set to 22814392
Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32
Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments
DDG2P v0.1 CLDN19 Rebecca Foulger gene: CLDN19 was added
gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971
Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments
DDG2P v0.1 CLCN4 Rebecca Foulger gene: CLCN4 was added
gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN4 were set to 23647072; 25644381
Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments
DDG2P v0.1 CKAP2L Rebecca Foulger gene: CKAP2L was added
gene: CKAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
DDG2P v0.1 CIT Rebecca Foulger gene: CIT was added
gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIT were set to 27453578
Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414
Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments
DDG2P v0.1 CIC Rebecca Foulger gene: CIC was added
gene: CIC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CIC were set to CAPICUA, DROSOPHILA, HOMOLOG OF 612082
Mode of pathogenicity for gene: CIC was set to Other - please provide details in the comments
DDG2P v0.1 CHST3 Rebecca Foulger gene: CHST3 was added
gene: CHST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 19320654; 15098240; 18698629; 18513679; 112567; 20830804
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
DDG2P v0.1 CHRNB2 Rebecca Foulger gene: CHRNB2 was added
gene: CHRNB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375
Mode of pathogenicity for gene: CHRNB2 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA4 Rebecca Foulger gene: CHRNA4 was added
gene: CHRNA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHRNA4 were set to 7647781
Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513
Mode of pathogenicity for gene: CHRNA4 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA2 Rebecca Foulger gene: CHRNA2 was added
gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607
Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA1 Rebecca Foulger gene: CHRNA1 was added
gene: CHRNA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290
DDG2P v0.1 CHD7 Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 for gene: CHD7
DDG2P v0.1 CHD4 Rebecca Foulger gene: CHD4 was added
gene: CHD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD4 were set to 27616479; 27479907
Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
DDG2P v0.1 CHD3 Rebecca Foulger gene: CHD3 was added
gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD3 were set to Apraxia of speech
Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments
DDG2P v0.1 CHD2 Rebecca Foulger gene: CHD2 was added
gene: CHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD2 were set to 23708187
Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 CFL2 Rebecca Foulger gene: CFL2 was added
gene: CFL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFL2 were set to 17160903
Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 610687
Mode of pathogenicity for gene: CFL2 was set to Other - please provide details in the comments
DDG2P v0.1 CEP83 Rebecca Foulger gene: CEP83 was added
gene: CEP83 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
DDG2P v0.1 CDON Rebecca Foulger gene: CDON was added
gene: CDON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063
Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11 614226
Mode of pathogenicity for gene: CDON was set to Other - please provide details in the comments
DDG2P v0.1 CDKN1C Rebecca Foulger gene: CDKN1C was added
gene: CDKN1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 8841187; 9341892; 14997421; 20503313
Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME 130650
DDG2P v0.1 CDKL5 Rebecca Foulger gene: CDKL5 was added
gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
DDG2P v0.1 CDK13 Rebecca Foulger gene: CDK13 was added
gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK13 were set to 27479907
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments
DDG2P v0.1 CDK10 Rebecca Foulger gene: CDK10 was added
gene: CDK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 29130579; 28886341
Phenotypes for gene: CDK10 were set to Severe Growth Retardation, Spine Malformations, and Developmental Delays
DDG2P v0.1 CDH3 Rebecca Foulger Added phenotypes HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 for gene: CDH3
Publications for gene CDH3 were changed from 15805154 to 11544476; 12445216
DDG2P v0.1 CDH1 Rebecca Foulger gene: CDH1 was added
gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH1 were set to 100000
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments
DDG2P v0.1 CD151 Rebecca Foulger gene: CD151 was added
gene: CD151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795
Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057
DDG2P v0.1 CCND2 Rebecca Foulger gene: CCND2 was added
gene: CCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
Mode of pathogenicity for gene: CCND2 was set to Other - please provide details in the comments
DDG2P v0.1 CCDC8 Rebecca Foulger gene: CCDC8 was added
gene: CCDC8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 614205
DDG2P v0.1 CCDC78 Rebecca Foulger gene: CCDC78 was added
gene: CCDC78 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC78 were set to 22818856
Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807
DDG2P v0.1 CCDC22 Rebecca Foulger gene: CCDC22 was added
gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments
DDG2P v0.1 CBS Rebecca Foulger gene: CBS was added
gene: CBS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202
Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
DDG2P v0.1 CBL Rebecca Foulger gene: CBL was added
gene: CBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 20694012; 20619386; 20543203
Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments
DDG2P v0.1 CASK Rebecca Foulger Added phenotypes MRX WITH/WITHOUT NYSTAGMUS 300749 for gene: CASK
Publications for gene CASK were changed from 19377476; 19200522; 20029458 to 21954287; 19165920
DDG2P v0.1 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CASK was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CASK were set to 21954287; 19165920
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749
DDG2P v0.1 CARS2 Rebecca Foulger gene: CARS2 was added
gene: CARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 25787132; 25361775
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression
DDG2P v0.1 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMTA1 were set to 22693284
Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756
DDG2P v0.1 CAD Rebecca Foulger gene: CAD was added
gene: CAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAD was set to
Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy
DDG2P v0.1 CACNA1H Rebecca Foulger gene: CACNA1H was added
gene: CACNA1H was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1H were set to EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942
Mode of pathogenicity for gene: CACNA1H was set to Other - please provide details in the comments
DDG2P v0.1 CACNA1D Rebecca Foulger gene: CACNA1D was added
gene: CACNA1D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CACNA1D were set to 21131953
Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
DDG2P v0.1 CACNA1C Rebecca Foulger gene: CACNA1C was added
gene: CACNA1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1C were set to 15454078
Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME 601005
Mode of pathogenicity for gene: CACNA1C was set to Other - please provide details in the comments
DDG2P v0.1 CACNA1A Rebecca Foulger gene: CACNA1A was added
gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381
Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments
DDG2P v0.1 C1QBP Rebecca Foulger gene: C1QBP was added
gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments
DDG2P v0.1 C12orf57 Rebecca Foulger gene: C12orf57 was added
gene: C12orf57 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf57 were set to 23453666
Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340; TEMTAMY SYNDROME
Mode of pathogenicity for gene: C12orf57 was set to Other - please provide details in the comments
DDG2P v0.1 BRPF1 Rebecca Foulger gene: BRPF1 was added
gene: BRPF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRPF1 were set to 27939639; 27939640
Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis
DDG2P v0.1 BRAT1 Rebecca Foulger gene: BRAT1 was added
gene: BRAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to 22279524
Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498
DDG2P v0.1 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 19206169
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 613706
Mode of pathogenicity for gene: BRAF was set to Other - please provide details in the comments
DDG2P v0.1 BPIFB6 Rebecca Foulger gene: BPIFB6 was added
gene: BPIFB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: BPIFB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BPIFB6 were set to BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 614110
Mode of pathogenicity for gene: BPIFB6 was set to Other - please provide details in the comments
DDG2P v0.1 BMP4 Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 6 607932 for gene: BMP4
Publications for gene BMP4 were changed from 19249007 to 21340693; 18252212
DDG2P v0.1 BIN1 Rebecca Foulger gene: BIN1 was added
gene: BIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIN1 were set to 20142620; 17676042
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 255200
DDG2P v0.1 BICD2 Rebecca Foulger gene: BICD2 was added
gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 23664120
Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments
DDG2P v0.1 BHLHA9 Rebecca Foulger gene: BHLHA9 was added
gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHA9 were set to 25466284
Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments
DDG2P v0.1 BGN Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN
Publications for gene BGN were changed from 27236923 to 27632686
DDG2P v0.1 BFSP2 Rebecca Foulger gene: BFSP2 was added
gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BFSP2 were set to 10634598; 10729115
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments
DDG2P v0.1 BCOR Rebecca Foulger gene: BCOR was added
gene: BCOR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BCOR were set to 15957158; 19367324; 15004558; 15770227
Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 300166
DDG2P v0.1 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
DDG2P v0.1 BANF1 Rebecca Foulger gene: BANF1 was added
gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BANF1 were set to 21549337
Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008
Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments
DDG2P v0.1 B3GALT6 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640 for gene: B3GALT6
Publications for gene B3GALT6 were changed from to 23664117
DDG2P v0.1 B3GALNT2 Rebecca Foulger gene: B3GALNT2 was added
gene: B3GALNT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181
DDG2P v0.1 AXIN1 Rebecca Foulger gene: AXIN1 was added
gene: AXIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AXIN1 was set to
Phenotypes for gene: AXIN1 were set to CAUDAL DUPLICATION ANOMALY 607864
Mode of pathogenicity for gene: AXIN1 was set to Other - please provide details in the comments
DDG2P v0.1 AUH Rebecca Foulger gene: AUH was added
gene: AUH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 20855850; 15033206; 12434311; 10070612; 6181239
Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
DDG2P v0.1 ATRX Rebecca Foulger Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 for gene: ATRX
Publications for gene ATRX were changed from 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 to 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714
DDG2P v0.1 ATRX Rebecca Foulger gene: ATRX was added
gene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095
Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
DDG2P v0.1 ATP8A2 Rebecca Foulger gene: ATP8A2 was added
gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528
Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268
Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP6V1B2 Rebecca Foulger gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V1B2 were set to 25915598
Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME
Mode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP6V1B1 Rebecca Foulger gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796
Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
DDG2P v0.1 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423
Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235
Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments
DDG2P v0.1 ATOH7 Rebecca Foulger gene: ATOH7 was added
gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900
Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments
DDG2P v0.1 ATAD3A Rebecca Foulger Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A
DDG2P v0.1 ATAD3A Rebecca Foulger gene: ATAD3A was added
gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
DDG2P v0.1 ASH1L Rebecca Foulger gene: ASH1L was added
gene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005
Phenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments
DDG2P v0.1 ASCL1 Rebecca Foulger gene: ASCL1 was added
gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCL1 were set to 21937992
Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC3 Rebecca Foulger gene: ASCC3 was added
gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992
Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments
DDG2P v0.1 ASAH1 Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1
Publications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX
Publications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX
Publications for gene ARX were changed from 21204226; 11971879 to 1605226
DDG2P v0.1 ARL14EP Rebecca Foulger gene: ARL14EP was added
gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL14EP were set to 21937992
Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments
DDG2P v0.1 ARHGEF9 Rebecca Foulger gene: ARHGEF9 was added
gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARHGEF9 were set to 21633362
Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
DDG2P v0.1 ARFGEF2 Rebecca Foulger gene: ARFGEF2 was added
gene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARFGEF2 were set to 14647276
Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
DDG2P v0.1 APTX Rebecca Foulger gene: APTX was added
gene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392
Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
DDG2P v0.1 AP3B2 Rebecca Foulger gene: AP3B2 was added
gene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B2 were set to 27889060
Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy
DDG2P v0.1 ANO5 Rebecca Foulger Added phenotypes GNATHODIAPHYSEAL DYSPLASIA 166260 for gene: ANO5
DDG2P v0.1 ANO5 Rebecca Foulger gene: ANO5 was added
gene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
DDG2P v0.1 ANKRD26 Rebecca Foulger gene: ANKRD26 was added
gene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD26 were set to 21211618; 10521306
Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000
Mode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments
DDG2P v0.1 AMT Rebecca Foulger gene: AMT was added
gene: AMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY 605899
DDG2P v0.1 AMER1 Rebecca Foulger gene: AMER1 was added
gene: AMER1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
DDG2P v0.1 ALX4 Rebecca Foulger gene: ALX4 was added
gene: ALX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2 605420
DDG2P v0.1 ALPL Rebecca Foulger gene: ALPL was added
gene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660
Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500
Mode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: ALG13
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES. for gene: ALG13
DDG2P v0.1 ALG13 Rebecca Foulger gene: ALG13 was added
gene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG13 was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ALG13 were set to 23934111
Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES.
Mode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments
DDG2P v0.1 ALDOA Rebecca Foulger gene: ALDOA was added
gene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 8598869; 2825199
Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881
Mode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments
DDG2P v0.1 ALDH1A3 Rebecca Foulger gene: ALDH1A3 was added
gene: ALDH1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 23312594
Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA
DDG2P v0.1 ALDH18A1 Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 for gene: ALDH18A1
DDG2P v0.1 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
DDG2P v0.1 ALAD Rebecca Foulger gene: ALAD was added
gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALAD were set to 2063868
Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740
Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments
DDG2P v0.1 AKT3 Rebecca Foulger gene: AKT3 was added
gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT3 were set to 22500628; 22729224
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387
Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments
DDG2P v0.1 AKT1 Rebecca Foulger gene: AKT1 was added
gene: AKT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME 176920
Mode of pathogenicity for gene: AKT1 was set to Other - please provide details in the comments
DDG2P v0.1 AKR1D1 Rebecca Foulger gene: AKR1D1 was added
gene: AKR1D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144
Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
DDG2P v0.1 AIRE Rebecca Foulger gene: AIRE was added
gene: AIRE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 9398839
Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
DDG2P v0.1 AIFM1 Rebecca Foulger gene: AIFM1 was added
gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 23217327
Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME
Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments
DDG2P v0.1 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPS were set to 7807941; 11152660
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments
DDG2P v0.1 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20208537
Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246
DDG2P v0.1 AFF4 Rebecca Foulger gene: AFF4 was added
gene: AFF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFF4 were set to 25730767
Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME
Mode of pathogenicity for gene: AFF4 was set to Other - please provide details in the comments
DDG2P v0.1 AFF3 Rebecca Foulger gene: AFF3 was added
gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFF3 were set to 100000
Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease
Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments
DDG2P v0.1 ADSL Rebecca Foulger gene: ADSL was added
gene: ADSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 10090474; 18830228; 6150139; 12016589; 9545543
Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY 103050
Mode of pathogenicity for gene: ADSL was set to Other - please provide details in the comments
DDG2P v0.1 ADRA2B Rebecca Foulger gene: ADRA2B was added
gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 21937992
Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments
DDG2P v0.1 ADK Rebecca Foulger gene: ADK was added
gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADK were set to 21937992
Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments
DDG2P v0.1 ADGRG6 Rebecca Foulger gene: ADGRG6 was added
gene: ADGRG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201
Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
Publications for gene ADAR were changed from 12916015; 16935814; 17478391; 16817193 to 23001123
DDG2P v0.1 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193
Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
DDG2P v0.1 ADAMTS18 Rebecca Foulger gene: ADAMTS18 was added
gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS18 were set to 21862674
Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454
Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments
DDG2P v0.1 ACVR2B Rebecca Foulger gene: ACVR2B was added
gene: ACVR2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR2B were set to HETEROTAXY SYNDROME 207574
Mode of pathogenicity for gene: ACVR2B was set to Other - please provide details in the comments
DDG2P v0.1 ACVR1 Rebecca Foulger gene: ACVR1 was added
gene: ACVR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACVR1 were set to 19330033; 16642017; 19085907; 18203193; 18830232
Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
Mode of pathogenicity for gene: ACVR1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTL6B Rebecca Foulger gene: ACTL6B was added
gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTL6B were set to 28867141
Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder
Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments
DDG2P v0.1 ACTG1 Rebecca Foulger gene: ACTG1 was added
gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTA2 Rebecca Foulger Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 for gene: ACTA2
DDG2P v0.1 ACTA2 Rebecca Foulger gene: ACTA2 was added
gene: ACTA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 614042
Mode of pathogenicity for gene: ACTA2 was set to Other - please provide details in the comments
DDG2P v0.1 ACTA1 Rebecca Foulger gene: ACTA1 was added
gene: ACTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTA1 were set to 10508519
Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3
Mode of pathogenicity for gene: ACTA1 was set to Other - please provide details in the comments
DDG2P v0.1 ACSL4 Rebecca Foulger gene: ACSL4 was added
gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
DDG2P v0.1 ACP5 Rebecca Foulger gene: ACP5 was added
gene: ACP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 12786759; 21217752; 21217755; 16470600; 13524805
Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
DDG2P v0.1 ACAT1 Rebecca Foulger gene: ACAT1 was added
gene: ACAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617
Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA 203750
DDG2P v0.1 ACAN Rebecca Foulger gene: ACAN was added
gene: ACAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
DDG2P v0.1 ACADS Rebecca Foulger gene: ACADS was added
gene: ACADS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 2808706
Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470
Mode of pathogenicity for gene: ACADS was set to Other - please provide details in the comments
DDG2P v0.1 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations
Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments
DDG2P v0.1 ABCD4 Rebecca Foulger gene: ABCD4 was added
gene: ABCD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874
Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857
DDG2P v0.1 ABCC9 Rebecca Foulger gene: ABCC9 was added
gene: ABCC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Mode of pathogenicity for gene: ABCC9 was set to Other - please provide details in the comments
DDG2P v0.1 ABCB7 Rebecca Foulger gene: ABCB7 was added
gene: ABCB7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Mode of pathogenicity for gene: ABCB7 was set to Other - please provide details in the comments
DDG2P v0.1 ABCB6 Rebecca Foulger gene: ABCB6 was added
gene: ABCB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCB6 were set to 22226084
Phenotypes for gene: ABCB6 were set to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497
Mode of pathogenicity for gene: ABCB6 was set to Other - please provide details in the comments
DDG2P v0.1 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 25817015
Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.