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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 ZNF711 Rebecca Foulger gene: ZNF711 was added
gene: ZNF711 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZNF711 were set to 19377476
Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803
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 ZNF462 Rebecca Foulger gene: ZNF462 was added
gene: ZNF462 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNF462 were set to 28513610
Phenotypes for gene: ZNF462 were set to Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
DDG2P v0.1 ZMYND11 Rebecca Foulger gene: ZMYND11 was added
gene: ZMYND11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ZMYND11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMYND11 were set to 25217958; 25281490; 27626064
Phenotypes for gene: ZMYND11 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 ZMYND10 Rebecca Foulger gene: ZMYND10 was added
gene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMYND10 were set to 23891471
Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444
DDG2P v0.1 ZMYM6 Rebecca Foulger gene: ZMYM6 was added
gene: ZMYM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZMYM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZMYM6 were set to INTELLECTUAL DISABILITY
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 Added phenotypes HETEROTAXY SYNDROME 207574 for gene: ZIC3
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 ZIC2 Rebecca Foulger gene: ZIC2 was added
gene: ZIC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZIC2 were set to 11479728; 21638761; 9771712
Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY 609637
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 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to 11342696; 19805727; 18098276; 17661097
Phenotypes for gene: ZFYVE26 were set to SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700
DDG2P v0.1 ZFPM2 Rebecca Foulger Added phenotypes TETRALOGY OF FALLOT 187500 for gene: ZFPM2
DDG2P v0.1 ZFPM2 Rebecca Foulger Added phenotypes DIAPHRAGMATIC HERNIA 3 610187 for gene: ZFPM2
Publications for gene ZFPM2 were changed from 24549039 to 16103912
DDG2P v0.1 ZFPM2 Rebecca Foulger gene: ZFPM2 was added
gene: ZFPM2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFPM2 were set to 24549039
Phenotypes for gene: ZFPM2 were set to 46,XY GONADAL DYSGENESIS
DDG2P v0.1 ZFP57 Rebecca Foulger gene: ZFP57 was added
gene: ZFP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFP57 were set to 18622393
Phenotypes for gene: ZFP57 were set to DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410
DDG2P v0.1 ZEB2 Rebecca Foulger gene: ZEB2 was added
gene: ZEB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB2 were set to 16532472; 11891681; 11279515; 12451214; 11595972; 9719364; 12920073; 16088920; 11592033; 16688751
Phenotypes for gene: ZEB2 were set to MOWAT-WILSON SYNDROME 235730
DDG2P v0.1 ZEB1 Rebecca Foulger Added phenotypes POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3 609141 for gene: ZEB1
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 ZDHHC9 Rebecca Foulger gene: ZDHHC9 was added
gene: ZDHHC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to 17436253; 26000327
Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799
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 ZCCHC8 Rebecca Foulger gene: ZCCHC8 was added
gene: ZCCHC8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZCCHC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZCCHC8 were set to 21937992
Phenotypes for gene: ZCCHC8 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 ZBTB40 Rebecca Foulger gene: ZBTB40 was added
gene: ZBTB40 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB40 were set to 21937992
Phenotypes for gene: ZBTB40 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 ZBTB18 Rebecca Foulger gene: ZBTB18 was added
gene: ZBTB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ZBTB18 were set to ZBTB18 syndrome
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 XYLT2 Rebecca Foulger gene: XYLT2 was added
gene: XYLT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496
Phenotypes for gene: XYLT2 were set to SPONDYLOOCULAR SYNDROME 605822
DDG2P v0.1 XYLT1 Rebecca Foulger gene: XYLT1 was added
gene: XYLT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT1 were set to 24581741
Phenotypes for gene: XYLT1 were set to DESBUQUOIS DYSPLASIA 2 615777
DDG2P v0.1 XRCC4 Rebecca Foulger gene: XRCC4 was added
gene: XRCC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 25728776
Phenotypes for gene: XRCC4 were set to PRIMORDIAL DWARFISM 615272
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 XPC Rebecca Foulger gene: XPC was added
gene: XPC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPC were set to 14662655; 11121128; 9804340; 8298653; 19478817; 11511294
Phenotypes for gene: XPC were set to XERODERMA PIGMENTOSUM, GROUP C 278720
DDG2P v0.1 XPA Rebecca Foulger gene: XPA was added
gene: XPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 1339397; 1372102; 2234061; 16098033
Phenotypes for gene: XPA were set to XERODERMA PIGMENTOSUM, GROUP A 278700
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 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WWOX were set to 24369382
Phenotypes for gene: WWOX were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322
DDG2P v0.1 WT1 Rebecca Foulger Added phenotypes FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME 136680 for gene: WT1
Publications for gene WT1 were changed from 8388765; 1655284; 1302008; 1327525 to 1658787; 9499425; 10571943
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 Added phenotypes LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820 for gene: WNT7A
Publications for gene WNT7A were changed from 9128926 to 16826533; 21271649; 21344627; 20949531
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 Added phenotypes MULLERIAN APLASIA AND HYPERANDROGENISM 158330 for gene: WNT4
Publications for gene WNT4 were changed from 18179883 to 15317892
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 WNT3 Rebecca Foulger gene: WNT3 was added
gene: WNT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to TETRA-AMELIA SYNDROME 276069
DDG2P v0.1 WNT10B Rebecca Foulger gene: WNT10B was added
gene: WNT10B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT10B were set to 20635353; 12072797
Phenotypes for gene: WNT10B were set to SPLIT-HAND/FOOT MALFORMATION TYPE 6 225300
DDG2P v0.1 WNT1 Rebecca Foulger gene: WNT1 was added
gene: WNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT1 were set to 23499309
Phenotypes for gene: WNT1 were set to OSTEOGENESIS IMPERFECTA
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 WDR73 Rebecca Foulger gene: WDR73 was added
gene: WDR73 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR73 were set to 25466283
Phenotypes for gene: WDR73 were set to GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME
DDG2P v0.1 WDR62 Rebecca Foulger gene: WDR62 was added
gene: WDR62 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR62 were set to 21834044; 10573015; 20890279; 20729831; 20890278
Phenotypes for gene: WDR62 were set to MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317
DDG2P v0.1 WDR60 Rebecca Foulger Added phenotypes SHORT-RIB POLYDACTYLY for gene: WDR60
DDG2P v0.1 WDR60 Rebecca Foulger gene: WDR60 was added
gene: WDR60 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR60 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR60 were set to 23910462
Phenotypes for gene: WDR60 were set to JEUNE SYNDROMES
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 WDR35 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME, TYPE V 614091 for gene: WDR35
Publications for gene WDR35 were changed from 20817137 to 21473986
DDG2P v0.1 WDR35 Rebecca Foulger gene: WDR35 was added
gene: WDR35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR35 were set to 20817137
Phenotypes for gene: WDR35 were set to CRANIOECTODERMAL DYSPLASIA 2 613610
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 WDR26 Rebecca Foulger gene: WDR26 was added
gene: WDR26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR26 were set to 28686853
Phenotypes for gene: WDR26 were set to Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
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 WDR19 Rebecca Foulger gene: WDR19 was added
gene: WDR19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to 22019273
Phenotypes for gene: WDR19 were set to CRANIOECTODERMAL DYSPLASIA 4 614378
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 WDPCP Rebecca Foulger gene: WDPCP was added
gene: WDPCP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDPCP were set to BARDET-BIEDL SYNDROME TYPE 15 209900
DDG2P v0.1 WAC Rebecca Foulger Added phenotypes WAC syndrome for gene: WAC
Publications for gene WAC were changed from 26757981 to 26264232
DDG2P v0.1 WAC Rebecca Foulger gene: WAC was added
gene: WAC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: WAC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WAC were set to 26757981
Phenotypes for gene: WAC were set to INTELLECTUAL DISABILITY
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 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VRK1 were set to 19646678; 21937992
Phenotypes for gene: VRK1 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596
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 VPS13B Rebecca Foulger gene: VPS13B was added
gene: VPS13B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to COHEN SYNDROME 193538
DDG2P v0.1 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VLDLR were set to 18043714; 18326629; 16080122
Phenotypes for gene: VLDLR were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050
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 VIP Rebecca Foulger gene: VIP was added
gene: VIP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: VIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VIP were set to 23849776
Phenotypes for gene: VIP were set to ASPERGER
DDG2P v0.1 VDR Rebecca Foulger gene: VDR was added
gene: VDR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VDR were set to 2849209; 8675579; 3024987; 8961271; 9360557; 2557627; 8392085; 2177843; 17970811; 11564167; 2558018
Phenotypes for gene: VDR were set to RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440
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 UVSSA Rebecca Foulger gene: UVSSA was added
gene: UVSSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UVSSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UVSSA were set to UV-SENSITIVE SYNDROME 609413
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 Added phenotypes MENTAL RETARDATION, X-LINKED 99 300919 for gene: USP9X
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 USP7 Rebecca Foulger gene: USP7 was added
gene: USP7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: USP7 was set to
Publications for gene: USP7 were set to 26365382
Phenotypes for gene: USP7 were set to Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism
DDG2P v0.1 USP27X Rebecca Foulger gene: USP27X was added
gene: USP27X was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: USP27X were set to 25644381
Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY
DDG2P v0.1 USP18 Rebecca Foulger gene: USP18 was added
gene: USP18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: USP18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP18 were set to 27325888
Phenotypes for gene: USP18 were set to Severe pseudo-TORCH syndrome
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 UQCRB Rebecca Foulger gene: UQCRB was added
gene: UQCRB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827
DDG2P v0.1 UPF3B Rebecca Foulger gene: UPF3B was added
gene: UPF3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: UPF3B were set to 17704778
Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676
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 UMPS Rebecca Foulger gene: UMPS was added
gene: UMPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UMPS were set to 9042911
Phenotypes for gene: UMPS were set to OROTIC ACIDURIA TYPE 1 258900
DDG2P v0.1 UGT1A1 Rebecca Foulger gene: UGT1A1 was added
gene: UGT1A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UGT1A1 were set to 11968090; 9039987; 9497253; 9295054
Phenotypes for gene: UGT1A1 were set to CRIGLER-NAJJAR SYNDROME, TYPE I 218800
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 UBR1 Rebecca Foulger gene: UBR1 was added
gene: UBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR1 were set to 16311597; 19006206; 18553553
Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME 243800
DDG2P v0.1 UBE3B Rebecca Foulger gene: UBE3B was added
gene: UBE3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE3B were set to 21567902; 23200864
Phenotypes for gene: UBE3B were set to BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057
DDG2P v0.1 UBE3A Rebecca Foulger gene: UBE3A was added
gene: UBE3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBE3A was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes for gene: UBE3A were set to ANGELMAN SYNDROME 105830
DDG2P v0.1 UBE2T Rebecca Foulger gene: UBE2T was added
gene: UBE2T was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435
DDG2P v0.1 UBE2A Rebecca Foulger gene: UBE2A was added
gene: UBE2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562
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 TYRP1 Rebecca Foulger gene: TYRP1 was added
gene: TYRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYRP1 were set to 8651291; 15996218; 19533799; 16704458
Phenotypes for gene: TYRP1 were set to OCULOCUTANEOUS ALBINISM TYPE 3 203290
DDG2P v0.1 TYR Rebecca Foulger gene: TYR was added
gene: TYR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYR were set to OCULOCUTANEOUS ALBINISM TYPE 1 203100
DDG2P v0.1 TXNL4A Rebecca Foulger gene: TXNL4A was added
gene: TXNL4A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNL4A were set to 25434003
Phenotypes for gene: TXNL4A were set to BURN MCKEOWN SYNDROME 608572
DDG2P v0.1 TWIST2 Rebecca Foulger Added phenotypes SETLEIS SYNDROME 227260 for gene: TWIST2
Publications for gene TWIST2 were changed from 26119818 to 8818454; 21931173; 14069095
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 Added phenotypes CRANIOSYNOSTOSIS, TYPE 1 123100 for gene: TWIST1
Publications for gene TWIST1 were changed from 8988167; 9259286; 8988166 to 17343269
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 TUSC3 Rebecca Foulger gene: TUSC3 was added
gene: TUSC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUSC3 were set to 18455129; 21739581
Phenotypes for gene: TUSC3 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093
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 Added phenotypes Circumferential Skin Creases Kunze Type for gene: TUBB
Publications for gene TUBB were changed from 23246003 to 26637975
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 TUBA1A Rebecca Foulger Added phenotypes LISSENCEPHALY TYPE 3 611603 for gene: TUBA1A
Publications for gene TUBA1A were changed from to 17218254; 30016746; 18728072; 18954413; 21403111; 17584854
DDG2P v0.1 TUBA1A Rebecca Foulger gene: TUBA1A was added
gene: TUBA1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBA1A were set to INTELLECTUAL DISABILITY
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 TTC8 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 8 209900 for gene: TTC8
DDG2P v0.1 TTC8 Rebecca Foulger gene: TTC8 was added
gene: TTC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC8 were set to 20451172
Phenotypes for gene: TTC8 were set to RETINITIS PIGMENTOSA TYPE 51 613464
DDG2P v0.1 TTC7A Rebecca Foulger gene: TTC7A was added
gene: TTC7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC7A were set to 23423984
Phenotypes for gene: TTC7A were set to INTESTINAL ATRESIA, MULTIPLE 243150
DDG2P v0.1 TTC37 Rebecca Foulger gene: TTC37 was added
gene: TTC37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC37 were set to 20176027; 21120949
Phenotypes for gene: TTC37 were set to TRICHOHEPATOENTERIC SYNDROME 222470
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 TTC19 Rebecca Foulger gene: TTC19 was added
gene: TTC19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY 124000
DDG2P v0.1 TSPAN7 Rebecca Foulger gene: TSPAN7 was added
gene: TSPAN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TSPAN7 were set to 10449641; 10655063
Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58 300210
DDG2P v0.1 TSHZ1 Rebecca Foulger gene: TSHZ1 was added
gene: TSHZ1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TSHZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSHZ1 were set to 22152683
Phenotypes for gene: TSHZ1 were set to AURAL ATRESIA, CONGENITAL 607842
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 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970
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 TSC2 Rebecca Foulger Added phenotypes TUBEROUS SCLEROSIS TYPE 2 613254 for gene: TSC2
Publications for gene TSC2 were changed from to 8825048; 10206124; 9463313; 19259131; 7581393; 8634701; 9302281; 11403047; 17120248; 8824881; 12752578; 9361032; 10069705
DDG2P v0.1 TSC2 Rebecca Foulger gene: TSC2 was added
gene: TSC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to LYMPHANGIOLEIOMYOMATOSIS 606690
DDG2P v0.1 TSC1 Rebecca Foulger gene: TSC1 was added
gene: TSC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TSC1 were set to 10053179; 10340649; 18830229; 9242607
Phenotypes for gene: TSC1 were set to TUBEROUS SCLEROSIS TYPE 1 191100
DDG2P v0.1 TRPV4 Rebecca Foulger Added phenotypes METATROPIC DYSPLASIA 156530 for gene: TRPV4
Publications for gene TRPV4 were changed from 20577006; 19232556 to 20577006; 20425821; 21964829; 19232556
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 TRPS1 Rebecca Foulger gene: TRPS1 was added
gene: TRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRPS1 were set to 11359471; 14560312; 10615131
Phenotypes for gene: TRPS1 were set to TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 190350
DDG2P v0.1 TRPM1 Rebecca Foulger gene: TRPM1 was added
gene: TRPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPM1 were set to 19878917; 20300565; 19896109; 19896113
Phenotypes for gene: TRPM1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216
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 TRMT1 Rebecca Foulger gene: TRMT1 was added
gene: TRMT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1 were set to 21937992
Phenotypes for gene: TRMT1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 TRIP4 Rebecca Foulger gene: TRIP4 was added
gene: TRIP4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRIP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP4 were set to 26924529
Phenotypes for gene: TRIP4 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
DDG2P v0.1 TRIP13 Rebecca Foulger gene: TRIP13 was added
gene: TRIP13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP13 were set to 28553959
Phenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour
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 TRIP11 Rebecca Foulger gene: TRIP11 was added
gene: TRIP11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRIP11 were set to 20089971
Phenotypes for gene: TRIP11 were set to ACHONDROGENESIS TYPE 1A 200600
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 TRIM37 Rebecca Foulger gene: TRIM37 was added
gene: TRIM37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to MULIBREY NANISM 213300
DDG2P v0.1 TRIM32 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 for gene: TRIM32
Publications for gene TRIM32 were changed from to 11822024; 17994549
DDG2P v0.1 TRIM32 Rebecca Foulger gene: TRIM32 was added
gene: TRIM32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 209900
DDG2P v0.1 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREX1 were set to 17357087; 16845398
Phenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750
DDG2P v0.1 TRAPPC9 Rebecca Foulger gene: TRAPPC9 was added
gene: TRAPPC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC9 were set to 22549410; 20004763; 17120046; 20004764
Phenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192
DDG2P v0.1 TRAPPC2 Rebecca Foulger gene: TRAPPC2 was added
gene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400
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 TRAPPC11 Rebecca Foulger gene: TRAPPC11 was added
gene: TRAPPC11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC11 were set to 23830518
Phenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356
DDG2P v0.1 TRAIP Rebecca Foulger gene: TRAIP was added
gene: TRAIP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAIP were set to 26595769
Phenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM 615272
DDG2P v0.1 TRAF7 Rebecca Foulger Added phenotypes Developmental Delay, Congenital Anomalies, and Dysmorphic Features for gene: TRAF7
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 TPP1 Rebecca Foulger gene: TPP1 was added
gene: TPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP1 were set to 9295267; 12414822; 10330339; 12376936; 10665500; 17959406
Phenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500
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 LIMB-MAMMARY SYNDROME 603543 for gene: TP63
Publications for gene TP63 were changed from 11528512; 11929852; 16114047; 19530185; 16724007 to 11462173
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 TP63 Rebecca Foulger Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400 for gene: TP63
DDG2P v0.1 TP63 Rebecca Foulger Added phenotypes NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400 for gene: TP63
Publications for gene TP63 were changed from 19239083; 11159940; 10886756 to 16740912; 12939657; 14684701; 17609671; 12766194
DDG2P v0.1 TP63 Rebecca Foulger Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 for gene: TP63
Publications for gene TP63 were changed from 3366140; 10839977; 15736220 to 19239083; 11159940; 10886756
DDG2P v0.1 TP63 Rebecca Foulger Added phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289 for gene: TP63
Publications for gene TP63 were changed from 10535733; 9443880; 12838557; 10839977; 21204238 to 3366140; 10839977; 15736220
DDG2P v0.1 TP63 Rebecca Foulger gene: TP63 was added
gene: TP63 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TP63 were set to 10535733; 9443880; 12838557; 10839977; 21204238
Phenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292
DDG2P v0.1 TOE1 Rebecca Foulger gene: TOE1 was added
gene: TOE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOE1 were set to 28092684
Phenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA
DDG2P v0.1 TNFRSF13B Rebecca Foulger gene: TNFRSF13B was added
gene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF13B were set to 16007086
Phenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500
DDG2P v0.1 TMTC3 Rebecca Foulger gene: TMTC3 was added
gene: TMTC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMTC3 were set to 27773428
Phenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly
DDG2P v0.1 TMPRSS6 Rebecca Foulger gene: TMPRSS6 was added
gene: TMPRSS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMPRSS6 were set to 19592582; 19357398; 18596229; 18408718
Phenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200
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 TMEM67 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 6 610688 for gene: TMEM67
DDG2P v0.1 TMEM67 Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 3 607361 for gene: TMEM67
Publications for gene TMEM67 were changed from to 17377820; 16415887
DDG2P v0.1 TMEM67 Rebecca Foulger gene: TMEM67 was added
gene: TMEM67 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM67 were set to COACH SYNDROM 216360
DDG2P v0.1 TMEM5 Rebecca Foulger gene: TMEM5 was added
gene: TMEM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM5 were set to 23217329; 23519211
Phenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY 615041
DDG2P v0.1 TMEM260 Rebecca Foulger gene: TMEM260 was added
gene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM260 were set to 28318500
Phenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome
DDG2P v0.1 TMEM237 Rebecca Foulger gene: TMEM237 was added
gene: TMEM237 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM237 were set to 22152675; 14760273; 17603801
Phenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14 614424
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 TMEM199 Rebecca Foulger gene: TMEM199 was added
gene: TMEM199 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM199 were set to 26833330
Phenotypes for gene: TMEM199 were set to Disorder of Golgi homeostasis
DDG2P v0.1 TMEM165 Rebecca Foulger gene: TMEM165 was added
gene: TMEM165 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM165 were set to 22683087
Phenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727
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 TMEM126B Rebecca Foulger gene: TMEM126B was added
gene: TMEM126B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126B were set to 27374774; 27374773
Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency
DDG2P v0.1 TMEM114 Rebecca Foulger gene: TMEM114 was added
gene: TMEM114 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM114 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM114 were set to 17492639
Phenotypes for gene: TMEM114 were set to CONGENITAL AND JUVENILE CATARACT 611579
DDG2P v0.1 TMCO1 Rebecca Foulger gene: TMCO1 was added
gene: TMCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMCO1 were set to 20018682
Phenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980
DDG2P v0.1 TM4SF20 Rebecca Foulger gene: TM4SF20 was added
gene: TM4SF20 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TM4SF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TM4SF20 were set to 23810381
Phenotypes for gene: TM4SF20 were set to SPECIFIC LANGUAGE IMPAIRMENT 5 615432
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 TLK2 Rebecca Foulger gene: TLK2 was added
gene: TLK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TLK2 were set to 27479843
Phenotypes for gene: TLK2 were set to TLK2 syndrome
DDG2P v0.1 TKT Rebecca Foulger gene: TKT was added
gene: TKT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKT were set to 27259054
Phenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects
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 TIMM8A Rebecca Foulger Added phenotypes MOHR-TRANEBJAERG SYNDROME 304700 for gene: TIMM8A
DDG2P v0.1 TIMM8A Rebecca Foulger gene: TIMM8A was added
gene: TIMM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME 311150
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 TGIF1 Rebecca Foulger gene: TGIF1 was added
gene: TGIF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY 609637
DDG2P v0.1 TGFBR2 Rebecca Foulger Added phenotypes TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163 for gene: TGFBR2
DDG2P v0.1 TGFBR2 Rebecca Foulger gene: TGFBR2 was added
gene: TGFBR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME
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 Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A 609192 for gene: TGFBR1
Publications for gene TGFBR1 were changed from 16791849; 16928994; 18070134 to 16596670; 15731757
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 TGFB3 Rebecca Foulger gene: TGFB3 was added
gene: TGFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TGFB3 were set to 24798638
Phenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME
DDG2P v0.1 TGFB2 Rebecca Foulger gene: TGFB2 was added
gene: TGFB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4 614816
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 TGDS Rebecca Foulger gene: TGDS was added
gene: TGDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TGDS were set to 25480037
Phenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME 616145
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 TERC Rebecca Foulger gene: TERC was added
gene: TERC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TERC were set to 12090986
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1
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 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824
Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS 615031
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 TCTN3 Rebecca Foulger gene: TCTN3 was added
gene: TCTN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 22883145
Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME 258860
DDG2P v0.1 TCTN2 Rebecca Foulger gene: TCTN2 was added
gene: TCTN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263
DDG2P v0.1 TCTN1 Rebecca Foulger gene: TCTN1 was added
gene: TCTN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263
DDG2P v0.1 TCOF1 Rebecca Foulger gene: TCOF1 was added
gene: TCOF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCOF1 were set to 15039977; 11013442; 9096354; 8563749; 12114482; 15214011; 14598341
Phenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1 154500
DDG2P v0.1 TCN2 Rebecca Foulger gene: TCN2 was added
gene: TCN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 7849710
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency
DDG2P v0.1 TCF4 Rebecca Foulger gene: TCF4 was added
gene: TCF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF4 were set to 17436254; 17436255; 18728071
Phenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME 610954
DDG2P v0.1 TCF20 Rebecca Foulger gene: TCF20 was added
gene: TCF20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF20 were set to 28135719; 25228304; 27436265
Phenotypes for gene: TCF20 were set to TCF20 syndrome
DDG2P v0.1 TCF12 Rebecca Foulger gene: TCF12 was added
gene: TCF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF12 were set to 23354436
Phenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS
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 TBX5 Rebecca Foulger gene: TBX5 was added
gene: TBX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME 142900
DDG2P v0.1 TBX4 Rebecca Foulger gene: TBX4 was added
gene: TBX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX4 were set to 11303519; 15106123
Phenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME 147891
DDG2P v0.1 TBX3 Rebecca Foulger gene: TBX3 was added
gene: TBX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX3 were set to 19938096; 9207801; 12116211; 12668170
Phenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME 181450
DDG2P v0.1 TBX22 Rebecca Foulger gene: TBX22 was added
gene: TBX22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED 304011
DDG2P v0.1 TBX20 Rebecca Foulger gene: TBX20 was added
gene: TBX20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 17668378; 19762328
Phenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4 611363
DDG2P v0.1 TBX18 Rebecca Foulger gene: TBX18 was added
gene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX18 were set to 26235987
Phenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400
DDG2P v0.1 TBX15 Rebecca Foulger gene: TBX15 was added
gene: TBX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 19068278; 24039145
Phenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome
DDG2P v0.1 TBX1 Rebecca Foulger gene: TBX1 was added
gene: TBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX1 were set to 14585638
Phenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME 188400
DDG2P v0.1 TBR1 Rebecca Foulger gene: TBR1 was added
gene: TBR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBR1 were set to 23160955
Phenotypes for gene: TBR1 were set to AUTISM 209850
DDG2P v0.1 TBL1XR1 Rebecca Foulger Added phenotypes Pierpont syndrome for gene: TBL1XR1
Publications for gene TBL1XR1 were changed from 23160955; 25425123 to 28687524; 26769062; 30365874
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 TBCE Rebecca Foulger gene: TBCE was added
gene: TBCE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBCE were set to 12389028
Phenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1 244460
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 TBC1D24 Rebecca Foulger Added phenotypes DOORS SYNDROME 220500 for gene: TBC1D24
Publications for gene TBC1D24 were changed from 20727515; 10741954; 20797691 to 24291220
DDG2P v0.1 TBC1D24 Rebecca Foulger Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 for gene: TBC1D24
Publications for gene TBC1D24 were changed from to 20727515; 10741954; 20797691
DDG2P v0.1 TBC1D24 Rebecca Foulger gene: TBC1D24 was added
gene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617
DDG2P v0.1 TBC1D23 Rebecca Foulger gene: TBC1D23 was added
gene: TBC1D23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D23 were set to 28823706; 28823707
Phenotypes for gene: TBC1D23 were set to Non-degenerative Pontocerebellar Hypoplasia
DDG2P v0.1 TBC1D20 Rebecca Foulger gene: TBC1D20 was added
gene: TBC1D20 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D20 were set to 24239381
Phenotypes for gene: TBC1D20 were set to Warburg micro syndrome 4
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 TAT Rebecca Foulger gene: TAT was added
gene: TAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAT were set to 1357662
Phenotypes for gene: TAT were set to TYROSINEMIA TYPE 2 276600
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 TAF1 Rebecca Foulger gene: TAF1 was added
gene: TAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TAF1 were set to 26637982
Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
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 TACO1 Rebecca Foulger gene: TACO1 was added
gene: TACO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000
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 SYP Rebecca Foulger gene: SYP was added
gene: SYP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SYP were set to 19377476
Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED 300802
DDG2P v0.1 SYNGAP1 Rebecca Foulger Added phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621 for gene: SYNGAP1
Publications for gene SYNGAP1 were changed from 23708187 to 23033978; 19196676; 23161826; 21237447; 23141534
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 SYNE1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 610743 for gene: SYNE1
DDG2P v0.1 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE 612998
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 SURF1 Rebecca Foulger Added phenotypes COMPLEX IV DEFICIENCY 220110 for gene: SURF1
DDG2P v0.1 SURF1 Rebecca Foulger gene: SURF1 was added
gene: SURF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SURF1 were set to LEIGH SYNDROME 256000
DDG2P v0.1 SUMO1 Rebecca Foulger gene: SUMO1 was added
gene: SUMO1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUMO1 were set to 16990542
Phenotypes for gene: SUMO1 were set to CLEFT LIP +/- CLEFT PALATE 608874
DDG2P v0.1 SUMF1 Rebecca Foulger gene: SUMF1 was added
gene: SUMF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to 12757706; 12757705; 21224894
Phenotypes for gene: SUMF1 were set to SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200
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 SUCLG1 Rebecca Foulger gene: SUCLG1 was added
gene: SUCLG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUCLG1 were set to FATAL INFANTILE LACTIC ACIDOSIS 308078
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 STXBP1 Rebecca Foulger gene: STXBP1 was added
gene: STXBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: STXBP1 were set to ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
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 STT3B Rebecca Foulger gene: STT3B was added
gene: STT3B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3B were set to 23842455
Phenotypes for gene: STT3B were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX 615597
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 STIL Rebecca Foulger gene: STIL was added
gene: STIL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STIL were set to 19215732
Phenotypes for gene: STIL were set to MICROCEPHALY PRIMARY TYPE 7 612703
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 Added phenotypes Recessive gain of function causing increased interferon signalling for gene: STAT2
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 STAR Rebecca Foulger gene: STAR was added
gene: STAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAR were set to 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391
Phenotypes for gene: STAR were set to CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710
DDG2P v0.1 STAMBP Rebecca Foulger gene: STAMBP was added
gene: STAMBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAMBP were set to 23542699
Phenotypes for gene: STAMBP were set to MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME
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 STAG1 Rebecca Foulger gene: STAG1 was added
gene: STAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: STAG1 were set to 30158690; 28119487
Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability
DDG2P v0.1 ST3GAL5 Rebecca Foulger gene: ST3GAL5 was added
gene: ST3GAL5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME 319543
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 SRY Rebecca Foulger gene: SRY was added
gene: SRY was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRY were set to 1619028; 12107262; 9443877; 2247149; 1339396; 1639410; 2247151; 1956279; 10852465; 1570829; 8105086; 7987333; 7985018; 9150734; 9521592; 1483689
Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1 400044
DDG2P v0.1 SRPX2 Rebecca Foulger Added phenotypes BILATERAL PERISYLVIAN POLYMICROGYRIA 300388 for gene: SRPX2
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 SRGAP3 Rebecca Foulger gene: SRGAP3 was added
gene: SRGAP3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SRGAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRGAP3 were set to 12195014
Phenotypes for gene: SRGAP3 were set to SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 606525
DDG2P v0.1 SRD5A3 Rebecca Foulger gene: SRD5A3 was added
gene: SRD5A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 20637498; 18271001
Phenotypes for gene: SRD5A3 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
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 SPRED1 Rebecca Foulger gene: SPRED1 was added
gene: SPRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPRED1 were set to 19366998; 17704776; 21649642; 19443465
Phenotypes for gene: SPRED1 were set to LEGIUS SYNDROME 611431
DDG2P v0.1 SPR Rebecca Foulger gene: SPR was added
gene: SPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPR were set to 11443547
Phenotypes for gene: SPR were set to DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716
DDG2P v0.1 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 17717710; 19194956; 17322883; 18067136
Phenotypes for gene: SPG11 were set to SPASTIC PARAPLEGIA-11 604360
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 SPATA5 Rebecca Foulger gene: SPATA5 was added
gene: SPATA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 26299366
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577
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 SOX9 Rebecca Foulger Added phenotypes CAMPOMELIC DYSPLASIA 114290 for gene: SOX9
Publications for gene SOX9 were changed from to 11754051; 7990924; 12783851; 7485151; 11076045; 19449405; 11323423; 10951468; 8001137; 8894698
DDG2P v0.1 SOX9 Rebecca Foulger gene: SOX9 was added
gene: SOX9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX9 were set to PIERRE ROBIN SEQUENCE
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 SOX2 Rebecca Foulger gene: SOX2 was added
gene: SOX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOX2 were set to AEG SYNDROME
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 WAARDENBURG SYNDROME TYPE 4C 613266 for gene: SOX10
Publications for gene SOX10 were changed from 23643381 to 18348274; 9462749; 10077527; 17999358
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 Added phenotypes WAARDENBURG SYNDROME TYPE 2E 611584 for gene: SOX10
Publications for gene SOX10 were changed from 19764030; 10482261; 10762540; 11026454; 12447940 to 8911608; 18627047; 19208381; 21965087; 18348267; 20478267; 17999358
DDG2P v0.1 SOX10 Rebecca Foulger Added phenotypes YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706 for gene: SOX10
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 SOBP Rebecca Foulger gene: SOBP was added
gene: SOBP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SOBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOBP were set to 21035105
Phenotypes for gene: SOBP were set to MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671
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 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA
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 SNRPB Rebecca Foulger gene: SNRPB was added
gene: SNRPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SNRPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNRPB were set to CEREBRO-COSTO-MANDIBULAR SYNDROME
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 SNAP29 Rebecca Foulger gene: SNAP29 was added
gene: SNAP29 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAP29 were set to 15968592; 21073448
Phenotypes for gene: SNAP29 were set to CEDNIK SYNDROME 609528
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 SMS Rebecca Foulger gene: SMS was added
gene: SMS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SMS were set to 19206178; 18550699; 5823961
Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME 309583
DDG2P v0.1 SMPD1 Rebecca Foulger Added phenotypes NIEMANN-PICK DISEASE TYPE B 607616 for gene: SMPD1
Publications for gene SMPD1 were changed from 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266 to 12607113; 1301192; 9266408; 1885770; 12369017
DDG2P v0.1 SMPD1 Rebecca Foulger gene: SMPD1 was added
gene: SMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD1 were set to 1301192; 1391960; 19405096; 8051942; 8401540; 2023926; 1718266
Phenotypes for gene: SMPD1 were set to NIEMANN-PICK DISEASE TYPE A 257200
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 SMG9 Rebecca Foulger gene: SMG9 was added
gene: SMG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG9 were set to 27018474
Phenotypes for gene: SMG9 were set to SMG9 Multiple Congenital Anomaly Syndrome
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 SMARCB1 Rebecca Foulger Added phenotypes ?COFFIN-SIRIS SYNDROME 135900 for gene: SMARCB1
DDG2P v0.1 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCB1 were set to 9671307; 10739763; 10521299
Phenotypes for gene: SMARCB1 were set to RHABDOID PREDISPOSITION SYNDROME 1 609322
DDG2P v0.1 SMARCAL1 Rebecca Foulger gene: SMARCAL1 was added
gene: SMARCAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 11799392; 15523612
Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900
DDG2P v0.1 SMARCA4 Rebecca Foulger Added phenotypes RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 for gene: SMARCA4
Publications for gene SMARCA4 were changed from to 20137775
DDG2P v0.1 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA4 were set to COFFIN SIRIS 135900
DDG2P v0.1 SMARCA2 Rebecca Foulger Added phenotypes NICOLAIDES-BARAITSER SYNDROME 601358 for gene: SMARCA2
Publications for gene SMARCA2 were changed from 22426308 to 19606471; 22426308; 22366787
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 SMAD6 Rebecca Foulger gene: SMAD6 was added
gene: SMAD6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD6 were set to 27606499; 28808027
Phenotypes for gene: SMAD6 were set to Non-syndromic craniosynostosis
DDG2P v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS SYNDROME 174900 for gene: SMAD4
DDG2P v0.1 SMAD4 Rebecca Foulger Added phenotypes JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 for gene: SMAD4
DDG2P v0.1 SMAD4 Rebecca Foulger gene: SMAD4 was added
gene: SMAD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD4 were set to MYHRE SYNDROME
DDG2P v0.1 SMAD3 Rebecca Foulger gene: SMAD3 was added
gene: SMAD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMAD3 were set to SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643
DDG2P v0.1 SMAD2 Rebecca Foulger gene: SMAD2 was added
gene: SMAD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMAD2 were set to 23665959
Phenotypes for gene: SMAD2 were set to CONGENITAL HEART DISEASE
DDG2P v0.1 SLX4 Rebecca Foulger gene: SLX4 was added
gene: SLX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLX4 were set to 21240277; 21240275
Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P 613951
DDG2P v0.1 SLC9A9 Rebecca Foulger gene: SLC9A9 was added
gene: SLC9A9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SLC9A9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC9A9 were set to SUSCEPTIBILITY TO AUTISM TYPE 16 613410
DDG2P v0.1 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A6 were set to 20395263; 10528855; 18342287
Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243
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 SLC6A8 Rebecca Foulger gene: SLC6A8 was added
gene: SLC6A8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918
Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME 300352
DDG2P v0.1 SLC6A5 Rebecca Foulger gene: SLC6A5 was added
gene: SLC6A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to HYPEREKPLEXIA 149400
DDG2P v0.1 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to PARKINSONISM-DYSTONIA, INFANTILE 319029
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 SLC52A3 Rebecca Foulger gene: SLC52A3 was added
gene: SLC52A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A3 were set to 20206331; 20920669; 16122634; 21110228
Phenotypes for gene: SLC52A3 were set to BROWN-VIALETTO-VAN LAERE SYNDROME 211530
DDG2P v0.1 SLC52A2 Rebecca Foulger gene: SLC52A2 was added
gene: SLC52A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to 22740598; 24253200
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
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 Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 for gene: SLC4A1
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 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17446347; 20795774; 18559978; 11807405; 21333572; 11804211
Phenotypes for gene: SLC46A1 were set to HEREDITARY FOLATE MALABSORPTION 229050
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 Added phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350 for gene: SLC39A13
Publications for gene SLC39A13 were changed from to 18513683; 18985159
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 SLC35D1 Rebecca Foulger gene: SLC35D1 was added
gene: SLC35D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35D1 were set to 11200994; 19508970; 17952091
Phenotypes for gene: SLC35D1 were set to SCHNECKENBECKEN DYSPLASIA 269250
DDG2P v0.1 SLC35C1 Rebecca Foulger gene: SLC35C1 was added
gene: SLC35C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35C1 were set to 11326279; 11326280
Phenotypes for gene: SLC35C1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265
DDG2P v0.1 SLC35A2 Rebecca Foulger gene: SLC35A2 was added
gene: SLC35A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC35A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC35A2 were set to CONGENITAL DISORDER OF GLYCOSYLATION
DDG2P v0.1 SLC35A1 Rebecca Foulger gene: SLC35A1 was added
gene: SLC35A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A1 were set to 15576474
Phenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
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 SLC2A2 Rebecca Foulger gene: SLC2A2 was added
gene: SLC2A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A2 were set to 9354798
Phenotypes for gene: SLC2A2 were set to FANCONI-BICKEL SYNDROME 269871
DDG2P v0.1 SLC2A10 Rebecca Foulger gene: SLC2A10 was added
gene: SLC2A10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A10 were set to 16550171; 17935213; 14569121
Phenotypes for gene: SLC2A10 were set to ARTERIAL TORTUOSITY SYNDROME 208050
DDG2P v0.1 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126 for gene: SLC2A1
Publications for gene SLC2A1 were changed from 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715 to 14605501; 19901175; 18451999; 18403583; 19630075; 18577546
DDG2P v0.1 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC2A1 were set to 10980529; 9462754; 20221955; 18606970; 11603379; 1714544; 11136715
Phenotypes for gene: SLC2A1 were set to GLUT1 DEFICIENCY SYNDROME TYPE 1 606777
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 SLC26A2 Rebecca Foulger Added phenotypes DIASTROPHIC DYSPLASIA 222600 for gene: SLC26A2
Publications for gene SLC26A2 were changed from 12966518 to 7923357; 10482955; 10466420; 8571951; 18925670
DDG2P v0.1 SLC26A2 Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900 for gene: SLC26A2
Publications for gene SLC26A2 were changed from 4644462; 8571951 to 12966518
DDG2P v0.1 SLC26A2 Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 2 256050 for gene: SLC26A2
Publications for gene SLC26A2 were changed from 8528239 to 4644462; 8571951
DDG2P v0.1 SLC26A2 Rebecca Foulger gene: SLC26A2 was added
gene: SLC26A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A2 were set to 8528239
Phenotypes for gene: SLC26A2 were set to ACHONDROGENESIS TYPE 1B 600972
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 SLC25A38 Rebecca Foulger gene: SLC25A38 was added
gene: SLC25A38 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A38 were set to 19412178
Phenotypes for gene: SLC25A38 were set to ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
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 SLC25A20 Rebecca Foulger gene: SLC25A20 was added
gene: SLC25A20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A20 were set to 9399886; 12859414; 10384384; 10697964; 9686371
Phenotypes for gene: SLC25A20 were set to CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138
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 SLC24A4 Rebecca Foulger gene: SLC24A4 was added
gene: SLC24A4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A4 were set to 23375655
Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.
DDG2P v0.1 SLC24A1 Rebecca Foulger gene: SLC24A1 was added
gene: SLC24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SLC24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC24A1 were set to 20850105
Phenotypes for gene: SLC24A1 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D 613830
DDG2P v0.1 SLC22A5 Rebecca Foulger gene: SLC22A5 was added
gene: SLC22A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805
Phenotypes for gene: SLC22A5 were set to SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140
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 SLC17A5 Rebecca Foulger Added phenotypes INFANTILE SIALIC ACID STORAGE DISORDER 269920 for gene: SLC17A5
Publications for gene SLC17A5 were changed from 10581036; 10947946 to 10069709; 10581036
DDG2P v0.1 SLC17A5 Rebecca Foulger gene: SLC17A5 was added
gene: SLC17A5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC17A5 were set to 10581036; 10947946
Phenotypes for gene: SLC17A5 were set to SALLA DISEASE 604369
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 SKIV2L Rebecca Foulger gene: SKIV2L was added
gene: SKIV2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2 615602
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 SIX3 Rebecca Foulger gene: SIX3 was added
gene: SIX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX3 were set to 19346217; 10369266; 17001667; 19353631; 11039582
Phenotypes for gene: SIX3 were set to HOLOPROSENCEPHALY 609637
DDG2P v0.1 SIX1 Rebecca Foulger Added phenotypes Non-syndromic craniosynostosis for gene: SIX1
DDG2P v0.1 SIX1 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192 for gene: SIX1
Publications for gene SIX1 were changed from 12843324; 15141091; 17637804 to 10777717
DDG2P v0.1 SIX1 Rebecca Foulger gene: SIX1 was added
gene: SIX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIX1 were set to 12843324; 15141091; 17637804
Phenotypes for gene: SIX1 were set to BRANCHIOOTIC SYNDROME TYPE 3 608389
DDG2P v0.1 SIN3A Rebecca Foulger gene: SIN3A was added
gene: SIN3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3A were set to 27399968
Phenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
DDG2P v0.1 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIL1 were set to 16282978; 18285827; 17026626; 20111056; 16282977
Phenotypes for gene: SIL1 were set to MARINESCO-SJOEGREN SYNDROME 248800
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 SHROOM3 Rebecca Foulger gene: SHROOM3 was added
gene: SHROOM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHROOM3 were set to 25805808
Phenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT
DDG2P v0.1 SHOX Rebecca Foulger Added phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 for gene: SHOX
Publications for gene SHOX were changed from 17935511; 9590292; 11889214; 12116254 to 9590293; 15356038; 11403039; 11030412; 21712857
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 HOLOPROSENCEPHALY TYPE 3 236100 for gene: SHH
DDG2P v0.1 SHH Rebecca Foulger Added phenotypes SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 for gene: SHH
Publications for gene SHH were changed from 12503095 to 11471164; 15103725; 12567406
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 SHANK3 Rebecca Foulger gene: SHANK3 was added
gene: SHANK3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK3 were set to 22892527; 17173049
Phenotypes for gene: SHANK3 were set to PHELAN-MCDERMID SYNDROME 606232
DDG2P v0.1 SHANK2 Rebecca Foulger gene: SHANK2 was added
gene: SHANK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHANK2 were set to 20473310
Phenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17 613436
DDG2P v0.1 SHANK1 Rebecca Foulger gene: SHANK1 was added
gene: SHANK1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SHANK1 were set to AUTISM 209850
DDG2P v0.1 SH3PXD2B Rebecca Foulger gene: SH3PXD2B was added
gene: SH3PXD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SH3PXD2B were set to 20137777; 15523657; 7158646
Phenotypes for gene: SH3PXD2B were set to FRANK-TER HAAR SYNDROME 249420
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 SGSH Rebecca Foulger gene: SGSH was added
gene: SGSH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A 252900
DDG2P v0.1 SF3B4 Rebecca Foulger gene: SF3B4 was added
gene: SF3B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SF3B4 were set to 22541558
Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400
DDG2P v0.1 SETD5 Rebecca Foulger gene: SETD5 was added
gene: SETD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD5 were set to 24680889
Phenotypes for gene: SETD5 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761
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 SETD1A Rebecca Foulger gene: SETD1A was added
gene: SETD1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY
DDG2P v0.1 SETBP1 Rebecca Foulger Added phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY for gene: SETBP1
DDG2P v0.1 SETBP1 Rebecca Foulger gene: SETBP1 was added
gene: SETBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETBP1 were set to 20436468
Phenotypes for gene: SETBP1 were set to SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150
DDG2P v0.1 SET Rebecca Foulger gene: SET was added
gene: SET was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SET were set to 28135719
Phenotypes for gene: SET were set to SET syndrome
DDG2P v0.1 SELENOI Rebecca Foulger gene: SELENOI was added
gene: SELENOI was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SELENOI was set to
Publications for gene: SELENOI were set to 28052917; 29500230
Phenotypes for gene: SELENOI were set to EPT1-related complex progressive hereditary spastic paraplegia
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 SEC24D Rebecca Foulger gene: SEC24D was added
gene: SEC24D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24D were set to 25683121
Phenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA
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 SDCCAG8 Rebecca Foulger gene: SDCCAG8 was added
gene: SDCCAG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDCCAG8 were set to 20835237
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7 613615
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 SCRIB Rebecca Foulger gene: SCRIB was added
gene: SCRIB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SCRIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCRIB were set to 24140112
Phenotypes for gene: SCRIB were set to 8Q24.3 DELETION-LIKE
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 SCO1 Rebecca Foulger gene: SCO1 was added
gene: SCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
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 Added phenotypes PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 for gene: SCN4A
Publications for gene SCN4A were changed from 1659948; 15596759; 1659668 to 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483
DDG2P v0.1 SCN4A Rebecca Foulger Added phenotypes HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 for gene: SCN4A
Publications for gene SCN4A were changed from 16890191; 10851391; 10599760; 10944223; 11591859 to 1659948; 15596759; 1659668
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 SCN2A Rebecca Foulger Added phenotypes BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968 for gene: SCN2A
DDG2P v0.1 SCN2A Rebecca Foulger gene: SCN2A was added
gene: SCN2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SCN2A were set to NONSPECIFIC SEVERE ID
DDG2P v0.1 SCN1B Rebecca Foulger Added phenotypes BRUGADA SYNDROME 5 612838 for gene: SCN1B
Publications for gene SCN1B were changed from 9697698 to 18464934
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 SCN1A Rebecca Foulger gene: SCN1A was added
gene: SCN1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN1A were set to 11359211; 21753172; 16505326; 18680191; 17000989; 12566275; 21555645
Phenotypes for gene: SCN1A were set to SCN1A-RELATED SEIZURE DISORDERS 607208
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 SCARF2 Rebecca Foulger gene: SCARF2 was added
gene: SCARF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCARF2 were set to 21108395
Phenotypes for gene: SCARF2 were set to VAN DEN ENDE-GUPTA SYNDROME 600920
DDG2P v0.1 SCAPER Rebecca Foulger gene: SCAPER was added
gene: SCAPER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCAPER were set to 21937992
Phenotypes for gene: SCAPER were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 SBDS Rebecca Foulger gene: SBDS was added
gene: SBDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to SHWACHMAN-DIAMOND SYNDROME 607444
DDG2P v0.1 SATB2 Rebecca Foulger Added phenotypes NONSPECIFIC SEVERE ID for gene: SATB2
DDG2P v0.1 SATB2 Rebecca Foulger Added phenotypes SYNDROMAL PIERRE ROBIN SEQUENCE for gene: SATB2
Publications for gene SATB2 were changed from 17377962 to 28139846; 28151491
DDG2P v0.1 SATB2 Rebecca Foulger gene: SATB2 was added
gene: SATB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB2 were set to 17377962
Phenotypes for gene: SATB2 were set to CLEFT PALATE ISOLATED 119540
DDG2P v0.1 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to AICARDI-GOUTIERES SYNDROME 239588
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 SALL4 Rebecca Foulger Added phenotypes DUANE-RADIAL RAY SYNDROME 173212 for gene: SALL4
DDG2P v0.1 SALL4 Rebecca Foulger gene: SALL4 was added
gene: SALL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SALL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL4 were set to ACRO-RENAL-OCULAR SYNDROME 217001
DDG2P v0.1 SALL1 Rebecca Foulger gene: SALL1 was added
gene: SALL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SALL1 were set to 18000979; 11484202; 9973281; 10928856; 17431915; 14755477; 9425907; 10533063
Phenotypes for gene: SALL1 were set to TOWNES-BROCKS SYNDROME 107480
DDG2P v0.1 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SACS were set to 10655055
Phenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550
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 RUNX2 Rebecca Foulger gene: RUNX2 was added
gene: RUNX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RUNX2 were set to 12081718; 9182765; 9207800; 12424590; 10521292; 15952089; 10545612
Phenotypes for gene: RUNX2 were set to CLEIDOCRANIAL DYSPLASIA 119600
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 RTEL1 Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190 for gene: RTEL1
DDG2P v0.1 RTEL1 Rebecca Foulger gene: RTEL1 was added
gene: RTEL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 23453664
Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190
DDG2P v0.1 RSPRY1 Rebecca Foulger gene: RSPRY1 was added
gene: RSPRY1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPRY1 were set to 26365341
Phenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA
DDG2P v0.1 RSPO4 Rebecca Foulger gene: RSPO4 was added
gene: RSPO4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO4 were set to 4702713; 17041604; 17186469; 18070203; 17914448
Phenotypes for gene: RSPO4 were set to ANONYCHIA CONGENITA 206800
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 RRM2B Rebecca Foulger gene: RRM2B was added
gene: RRM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM2B were set to 17486094; 19616983; 23968935; 23107649; 28482374
Phenotypes for gene: RRM2B were set to Mitochondrial depletion syndrome
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 Added phenotypes COFFIN-LOWRY SYNDROME 303600 for gene: RPS6KA3
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 RPS19 Rebecca Foulger gene: RPS19 was added
gene: RPS19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RPS19 were set to RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176
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 RPGRIP1L Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 7 611560 for gene: RPGRIP1L
Publications for gene RPGRIP1L were changed from 17558409 to 18565097; 17558409; 17558407
DDG2P v0.1 RPGRIP1L Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 5 611561 for gene: RPGRIP1L
Publications for gene RPGRIP1L were changed from to 17558409
DDG2P v0.1 RPGRIP1L Rebecca Foulger gene: RPGRIP1L was added
gene: RPGRIP1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to COACH SYNDROME 216360
DDG2P v0.1 RPGRIP1 Rebecca Foulger Added phenotypes CONE-ROD DYSTROPHY 13 608194 for gene: RPGRIP1
Publications for gene RPGRIP1 were changed from 11283794; 11528500 to 12920076
DDG2P v0.1 RPGRIP1 Rebecca Foulger gene: RPGRIP1 was added
gene: RPGRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1 were set to 11283794; 11528500
Phenotypes for gene: RPGRIP1 were set to LEBER CONGENITAL AMAUROSIS 6 613826
DDG2P v0.1 RPE65 Rebecca Foulger gene: RPE65 was added
gene: RPE65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPE65 were set to 9326927
Phenotypes for gene: RPE65 were set to LEBER CONGENITAL AMAUROSIS 608553
DDG2P v0.1 RORA Rebecca Foulger gene: RORA was added
gene: RORA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RORA were set to 29656859
Phenotypes for gene: RORA were set to INTELLECTUAL DISABILITY
DDG2P v0.1 ROR2 Rebecca Foulger Added phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 for gene: ROR2
DDG2P v0.1 ROR2 Rebecca Foulger Added phenotypes BRACHYDACTYLY, TYPE B1 113000 for gene: ROR2
Publications for gene ROR2 were changed from 10932186; 19640924; 15952209; 18831060; 10932187 to 10986040; 19533773; 10700182; 19461659
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 ROGDI Rebecca Foulger gene: ROGDI was added
gene: ROGDI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROGDI were set to 16411202; 8133980; 3236364; 22424600; 22482807; 7625549
Phenotypes for gene: ROGDI were set to KOHLSCHŸTTER-TšNZ SYNDROME 226750
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 RNF168 Rebecca Foulger gene: RNF168 was added
gene: RNF168 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RNF168 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF168 were set to RIDDLE SYNDROME 611943
DDG2P v0.1 RNF135 Rebecca Foulger gene: RNF135 was added
gene: RNF135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RNF135 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF135 were set to 17632510
Phenotypes for gene: RNF135 were set to MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192
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 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2C were set to 16845400
Phenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3 610329
DDG2P v0.1 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2B were set to 16845400
Phenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2 610181
DDG2P v0.1 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNASEH2A were set to 15870678
Phenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4 610333
DDG2P v0.1 RMRP Rebecca Foulger gene: RMRP was added
gene: RMRP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA 250250
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 RIN2 Rebecca Foulger gene: RIN2 was added
gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIN2 were set to 19631308
Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
DDG2P v0.1 RGS7 Rebecca Foulger gene: RGS7 was added
gene: RGS7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RGS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RGS7 were set to 21937992
Phenotypes for gene: RGS7 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 RFX6 Rebecca Foulger gene: RFX6 was added
gene: RFX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFX6 were set to 18512226; 20148032; 19887127; 15592663
Phenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME 601346
DDG2P v0.1 RFT1 Rebecca Foulger gene: RFT1 was added
gene: RFT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFT1 were set to 18313027
Phenotypes for gene: RFT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N 612015
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 Added phenotypes MULTIPLE ENDOCRINE NEOPLASIA IIB 162300 for gene: RET
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 RERE Rebecca Foulger gene: RERE was added
gene: RERE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RERE were set to 27087320
Phenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions
DDG2P v0.1 RELN Rebecca Foulger gene: RELN was added
gene: RELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RELN were set to LISSENCEPHALY 2 319306
DDG2P v0.1 RECQL4 Rebecca Foulger Added phenotypes BALLER-GEROLD SYNDROME 218600 for gene: RECQL4
Publications for gene RECQL4 were changed from 10319867; 9878247; 20503338; 12838562; 12734318; 10678659 to 11754069; 15964893; 9934984
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 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 12952869
Phenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME 266280
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 RBM10 Rebecca Foulger gene: RBM10 was added
gene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBM10 were set to 20451169; 5410571
Phenotypes for gene: RBM10 were set to TARP SYNDROME 311900
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 RASA1 Rebecca Foulger Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 for gene: RASA1
Publications for gene RASA1 were changed from 14639529 to 18363760; 14639529
DDG2P v0.1 RASA1 Rebecca Foulger gene: RASA1 was added
gene: RASA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 14639529
Phenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME 608355
DDG2P v0.1 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922
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 Added phenotypes FETAL AKINESIA DEFORMATION SEQUENCE 208150 for gene: RAPSN
Publications for gene RAPSN were changed from 11791205 to 18179903
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 RAD51 Rebecca Foulger gene: RAD51 was added
gene: RAD51 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAD51 were set to 21242494
Phenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 614508
DDG2P v0.1 RAD50 Rebecca Foulger gene: RAD50 was added
gene: RAD50 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 19409520
Phenotypes for gene: RAD50 were set to NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078
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 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP2 were set to 16532399
Phenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME 212720
DDG2P v0.1 RAB3GAP1 Rebecca Foulger gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543
Phenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 600118
DDG2P v0.1 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RAB39B were set to 11050621; 20159109; 25434005
Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271
DDG2P v0.1 RAB23 Rebecca Foulger gene: RAB23 was added
gene: RAB23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB23 were set to 17503333; 20358613
Phenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000
DDG2P v0.1 RAB18 Rebecca Foulger gene: RAB18 was added
gene: RAB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB18 were set to 21473985
Phenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 614222
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 QRICH1 Rebecca Foulger gene: QRICH1 was added
gene: QRICH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: QRICH1 were set to 28692176
Phenotypes for gene: QRICH1 were set to QRICH1 syndrome
DDG2P v0.1 QKI Rebecca Foulger gene: QKI was added
gene: QKI was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: QKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: QKI were set to 20082458
Phenotypes for gene: QKI were set to INTELLECTUAL DISABILITY
DDG2P v0.1 QDPR Rebecca Foulger gene: QDPR was added
gene: QDPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QDPR were set to 9341885; 9744478; 2116088; 8326489; 11153907
Phenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630
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 PYGL Rebecca Foulger gene: PYGL was added
gene: PYGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYGL were set to 9529348; 9536091
Phenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI 232700
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 PYCR1 Rebecca Foulger gene: PYCR1 was added
gene: PYCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR1 were set to 18304158; 18348262; 16045708; 19576563; 19648921; 11424136
Phenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940
DDG2P v0.1 PXDN Rebecca Foulger gene: PXDN was added
gene: PXDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PXDN were set to 21907015
Phenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA
DDG2P v0.1 PURA Rebecca Foulger gene: PURA was added
gene: PURA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PURA were set to 25342064
Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY
DDG2P v0.1 PUF60 Rebecca Foulger Added phenotypes PUF60 syndrome for gene: PUF60
DDG2P v0.1 PUF60 Rebecca Foulger gene: PUF60 was added
gene: PUF60 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PUF60 were set to 24140112; 27804958
Phenotypes for gene: PUF60 were set to 8Q24.3 DELETION-LIKE
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 PTPN14 Rebecca Foulger gene: PTPN14 was added
gene: PTPN14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN14 were set to 20826270
Phenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA 613611
DDG2P v0.1 PTPN11 Rebecca Foulger Added phenotypes NOONAN SYNDROME 1 163950 for gene: PTPN11
Publications for gene PTPN11 were changed from to 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261
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 Added phenotypes PANCREATIC AGENESIS for gene: PTF1A
Publications for gene PTF1A were changed from 10507728; 21749365; 15543146 to 24212882
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 MACROCEPHALY/AUTISM SYNDROME 605309 for gene: PTEN
Publications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 23160955; 15805158; 17286265
DDG2P v0.1 PTEN Rebecca Foulger Added phenotypes PROTEUS SYNDROME 176920 for gene: PTEN
DDG2P v0.1 PTEN Rebecca Foulger Added phenotypes LHERMITTE-DUCLOS DISEASE 158350 for gene: PTEN
Publications for gene PTEN were changed from 11748304 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211
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 PTEN Rebecca Foulger Added phenotypes COWDEN DISEASE 158350 for gene: PTEN
Publications for gene PTEN were changed from 9832032; 12844284; 9241266 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211
DDG2P v0.1 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTEN were set to 9832032; 12844284; 9241266
Phenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME 153480
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 PTCHD1 Rebecca Foulger gene: PTCHD1 was added
gene: PTCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PTCHD1 were set to 20844286
Phenotypes for gene: PTCHD1 were set to AUTISM/ID 300830
DDG2P v0.1 PTCH1 Rebecca Foulger Added phenotypes BASAL CELL NEVUS SYNDROME 109400 for gene: PTCH1
Publications for gene PTCH1 were changed from 11941477; 17001668 to 12900905; 8681379; 22572734; 8658145
DDG2P v0.1 PTCH1 Rebecca Foulger gene: PTCH1 was added
gene: PTCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTCH1 were set to 11941477; 17001668
Phenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7 610828
DDG2P v0.1 PSPH Rebecca Foulger Added phenotypes NEU-LAXOVA 256520 for gene: PSPH
Publications for gene PSPH were changed from 9222972; 14673469 to 25152457
DDG2P v0.1 PSPH Rebecca Foulger gene: PSPH was added
gene: PSPH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSPH were set to 9222972; 14673469
Phenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023
DDG2P v0.1 PSMD12 Rebecca Foulger gene: PSMD12 was added
gene: PSMD12 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMD12 were set to 28388435
Phenotypes for gene: PSMD12 were set to Global Developmental Delay, Multiple Malformations
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 PSAT1 Rebecca Foulger Added phenotypes NEU-LAXOVA SYNDROME 256520 for gene: PSAT1
DDG2P v0.1 PSAT1 Rebecca Foulger gene: PSAT1 was added
gene: PSAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 17436247
Phenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992
DDG2P v0.1 PSAP Rebecca Foulger gene: PSAP was added
gene: PSAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAP were set to 15773042
Phenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE 611722
DDG2P v0.1 PRUNE1 Rebecca Foulger gene: PRUNE1 was added
gene: PRUNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRUNE1 were set to 28211990; 28334956
Phenotypes for gene: PRUNE1 were set to PEHO Like condition
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 PRSS12 Rebecca Foulger gene: PRSS12 was added
gene: PRSS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRSS12 were set to 12459588
Phenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500
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 ARTS SYNDROME 301835 for gene: PRPS1
Publications for gene PRPS1 were changed from 6243137; 171280; 7593598; 2423135 to 22246954; 17701896; 8498830
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 Added phenotypes DEAFNESS X-LINKED TYPE 1 304500 for gene: PRPS1
Publications for gene PRPS1 were changed from 17701900 to 10503584; 8968763; 15240907; 20021999
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 PROP1 Rebecca Foulger gene: PROP1 was added
gene: PROP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600
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 PREPL Rebecca Foulger gene: PREPL was added
gene: PREPL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 24610330
Phenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME 606407
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 PQBP1 Rebecca Foulger gene: PQBP1 was added
gene: PQBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PQBP1 were set to 16740914; 13981686; 3177467; 16493439; 7943045; 14634649
Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1 309500
DDG2P v0.1 PPT1 Rebecca Foulger gene: PPT1 was added
gene: PPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730
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 PPP1R15B Rebecca Foulger gene: PPP1R15B was added
gene: PPP1R15B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R15B were set to 26307080
Phenotypes for gene: PPP1R15B were set to Severe microcephaly, short stature and intellectual disability
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 PPM1D Rebecca Foulger gene: PPM1D was added
gene: PPM1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPM1D were set to 28343630; 28135719
Phenotypes for gene: PPM1D were set to PPM1D syndrome
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 POU1F1 Rebecca Foulger gene: POU1F1 was added
gene: POU1F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POU1F1 were set to 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831
Phenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038
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 POMGNT2 Rebecca Foulger gene: POMGNT2 was added
gene: POMGNT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMGNT2 were set to 22958903
Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME 614830
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 Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: POLR3B
Publications for gene POLR3B were changed from to 21937992
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 POLR1D Rebecca Foulger gene: POLR1D was added
gene: POLR1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1D were set to 21131976
Phenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2 613717
DDG2P v0.1 POLR1C Rebecca Foulger gene: POLR1C was added
gene: POLR1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR1C were set to 21131976
Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3 248390
DDG2P v0.1 POLR1A Rebecca Foulger gene: POLR1A was added
gene: POLR1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
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 POGZ Rebecca Foulger gene: POGZ was added
gene: POGZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POGZ were set to 26942287; 25533962
Phenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY
DDG2P v0.1 POC1B Rebecca Foulger gene: POC1B was added
gene: POC1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1B were set to 25018096
Phenotypes for gene: POC1B were set to AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY
DDG2P v0.1 POC1A Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: POC1A
Publications for gene POC1A were changed from 22840364; 26336158; 22440536; 22840363 to 22840364; 22440536
DDG2P v0.1 POC1A Rebecca Foulger gene: POC1A was added
gene: POC1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 22840364; 26336158; 22440536; 22840363
Phenotypes for gene: POC1A were set to SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813
DDG2P v0.1 PNPT1 Rebecca Foulger Added phenotypes HEARING LOSS for gene: PNPT1
DDG2P v0.1 PNPT1 Rebecca Foulger gene: PNPT1 was added
gene: PNPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPT1 were set to 23084291
Phenotypes for gene: PNPT1 were set to RESPIRATORY CHAIN DISORDER 614932
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 Added phenotypes ATAXIA-OCULOMOTOR APRAXIA 4 616267 for gene: PNKP
Publications for gene PNKP were changed from 20118933 to 25728773
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 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME 276300
DDG2P v0.1 PMM2 Rebecca Foulger gene: PMM2 was added
gene: PMM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992
Phenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
DDG2P v0.1 PLXND1 Rebecca Foulger Added phenotypes TRUNCUS ARTERIOSIS for gene: PLXND1
Publications for gene PLXND1 were changed from to 24254849
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 PLPBP Rebecca Foulger gene: PLPBP was added
gene: PLPBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLPBP were set to 27912044
Phenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy
DDG2P v0.1 PLP1 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 for gene: PLP1
Publications for gene PLP1 were changed from 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601 to 17438221; 9489796; 8320699; 8956049; 14452137
DDG2P v0.1 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to 8659540; 8723686; 3827224; 9056547; 11071483; 1720927; 7574457; 1707231; 2773936; 1715570; 8696336; 8786077; 1384324; 7573159; 7683951; 1605230; 2480601
Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080
DDG2P v0.1 PLOD3 Rebecca Foulger gene: PLOD3 was added
gene: PLOD3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD3 were set to 18834968
Phenotypes for gene: PLOD3 were set to LYSYL HYDROXYLASE 3 DEFICIENCY 612394
DDG2P v0.1 PLOD2 Rebecca Foulger gene: PLOD2 was added
gene: PLOD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD2 were set to 15523624
Phenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2 609220
DDG2P v0.1 PLOD1 Rebecca Foulger gene: PLOD1 was added
gene: PLOD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLOD1 were set to 5016372; 9450904; 1345174; 8163671
Phenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400
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 PLEC Rebecca Foulger gene: PLEC was added
gene: PLEC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723
DDG2P v0.1 PLCG2 Rebecca Foulger Added phenotypes FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 614468 for gene: PLCG2
DDG2P v0.1 PLCG2 Rebecca Foulger gene: PLCG2 was added
gene: PLCG2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PLCG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLCG2 were set to 23000145
Phenotypes for gene: PLCG2 were set to AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 614878
DDG2P v0.1 PLCE1 Rebecca Foulger gene: PLCE1 was added
gene: PLCE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCE1 were set to 17086182; 20591883
Phenotypes for gene: PLCE1 were set to NEPHROTIC SYNDROME, TYPE 3 610725
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 Added phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 256600 for gene: PLA2G6
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 PKHD1 Rebecca Foulger gene: PKHD1 was added
gene: PKHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1 were set to 11919560; 19021639; 12506140
Phenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200
DDG2P v0.1 PKD1L1 Rebecca Foulger gene: PKD1L1 was added
gene: PKD1L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKD1L1 were set to 27616478
Phenotypes for gene: PKD1L1 were set to Laterality defects
DDG2P v0.1 PITX3 Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: PITX3
DDG2P v0.1 PITX3 Rebecca Foulger Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 for gene: PITX3
DDG2P v0.1 PITX3 Rebecca Foulger gene: PITX3 was added
gene: PITX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITX3 were set to 15286169
Phenotypes for gene: PITX3 were set to CATARACT POSTERIOR POLAR TYPE 4 610623
DDG2P v0.1 PITX2 Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: PITX2
DDG2P v0.1 PITX2 Rebecca Foulger Added phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 180500 for gene: PITX2
Publications for gene PITX2 were changed from 15591271 to 8944018; 11301317; 11487566
DDG2P v0.1 PITX2 Rebecca Foulger Added phenotypes RING DERMOID OF CORNEA 180550 for gene: PITX2
Publications for gene PITX2 were changed from 8942889; 7581385 to 15591271
DDG2P v0.1 PITX2 Rebecca Foulger gene: PITX2 was added
gene: PITX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PITX2 were set to 8942889; 7581385
Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2 137600
DDG2P v0.1 PITX1 Rebecca Foulger Added phenotypes CONGENITAL CLUBFOOT 119800 for gene: PITX1
Publications for gene PITX1 were changed from to 18950742; 22258522
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 Added phenotypes AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 for gene: PIK3R1
Publications for gene PIK3R1 were changed from 23810378 to 22351933
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 Added phenotypes MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501 for gene: PIK3CA
Publications for gene PIK3CA were changed from 22658544 to 22729224
DDG2P v0.1 PIK3CA Rebecca Foulger Added phenotypes HEMIMEGALENCEPHALY PIK3CA for gene: PIK3CA
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 PIGQ Rebecca Foulger gene: PIGQ was added
gene: PIGQ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 24463883
Phenotypes for gene: PIGQ were set to SEVERE EARLY-ONSET EPILEPSY
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 PIGL Rebecca Foulger gene: PIGL was added
gene: PIGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGL were set to 22444671
Phenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME 280000
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 PIGA Rebecca Foulger gene: PIGA was added
gene: PIGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PIGA were set to 22305531
Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868
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 PHIP Rebecca Foulger gene: PHIP was added
gene: PHIP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHIP were set to 29209020; 23033978
Phenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features
DDG2P v0.1 PHGDH Rebecca Foulger Added phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815 for gene: PHGDH
Publications for gene PHGDH were changed from 24836451 to 19235232; 11055895; 11034457
DDG2P v0.1 PHGDH Rebecca Foulger gene: PHGDH was added
gene: PHGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 24836451
Phenotypes for gene: PHGDH were set to NEU-LAXOVA SYNDROME 256520
DDG2P v0.1 PHF8 Rebecca Foulger gene: PHF8 was added
gene: PHF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHF8 were set to 10398231; 17594395; 16199551; 17661819
Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263
DDG2P v0.1 PHF6 Rebecca Foulger gene: PHF6 was added
gene: PHF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PHF6 were set to 15994862; 12415272; 15466013
Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900
DDG2P v0.1 PHF21A Rebecca Foulger gene: PHF21A was added
gene: PHF21A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME 601224
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 PGM3 Rebecca Foulger gene: PGM3 was added
gene: PGM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24931394
Phenotypes for gene: PGM3 were set to IMMUNODEFICIENCY 23 615816
DDG2P v0.1 PGM1 Rebecca Foulger gene: PGM1 was added
gene: PGM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to 19625727
Phenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921
DDG2P v0.1 PGK1 Rebecca Foulger gene: PGK1 was added
gene: PGK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PGK1 were set to 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346
Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653
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 PEX7 Rebecca Foulger Added phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100 for gene: PEX7
Publications for gene PEX7 were changed from to 9090381; 10083738; 12325024
DDG2P v0.1 PEX7 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757 for gene: PEX7
DDG2P v0.1 PEX7 Rebecca Foulger gene: PEX7 was added
gene: PEX7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to REFSUM DISEASE 266500
DDG2P v0.1 PEX6 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 for gene: PEX6
DDG2P v0.1 PEX6 Rebecca Foulger gene: PEX6 was added
gene: PEX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to ZELLWEGER SYNDROME 214100
DDG2P v0.1 PEX5 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX5
DDG2P v0.1 PEX5 Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX5
DDG2P v0.1 PEX5 Rebecca Foulger gene: PEX5 was added
gene: PEX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX5 were set to 7719337
Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370
DDG2P v0.1 PEX3 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX3
DDG2P v0.1 PEX3 Rebecca Foulger gene: PEX3 was added
gene: PEX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164
DDG2P v0.1 PEX26 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666 for gene: PEX26
DDG2P v0.1 PEX26 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL 202370 for gene: PEX26
DDG2P v0.1 PEX26 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX26
DDG2P v0.1 PEX26 Rebecca Foulger gene: PEX26 was added
gene: PEX26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to INFANTILE REFSUM DISEASE 266510
DDG2P v0.1 PEX2 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993 for gene: PEX2
DDG2P v0.1 PEX2 Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX2
DDG2P v0.1 PEX2 Rebecca Foulger gene: PEX2 was added
gene: PEX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME 214100
DDG2P v0.1 PEX19 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 for gene: PEX19
DDG2P v0.1 PEX19 Rebecca Foulger gene: PEX19 was added
gene: PEX19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX19 were set to ZELLWEGER SYNDROME 214100
DDG2P v0.1 PEX16 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX16
DDG2P v0.1 PEX16 Rebecca Foulger gene: PEX16 was added
gene: PEX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360
DDG2P v0.1 PEX14 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 for gene: PEX14
DDG2P v0.1 PEX14 Rebecca Foulger gene: PEX14 was added
gene: PEX14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX14 were set to ZELLWEGER SYNDROME 214100
DDG2P v0.1 PEX13 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789 for gene: PEX13
DDG2P v0.1 PEX13 Rebecca Foulger gene: PEX13 was added
gene: PEX13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370
DDG2P v0.1 PEX12 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 for gene: PEX12
DDG2P v0.1 PEX12 Rebecca Foulger gene: PEX12 was added
gene: PEX12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to ZELLWEGER SYNDROME 214100
DDG2P v0.1 PEX11B Rebecca Foulger gene: PEX11B was added
gene: PEX11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX11B were set to 28129423; 22581968
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B
DDG2P v0.1 PEX10 Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 for gene: PEX10
DDG2P v0.1 PEX10 Rebecca Foulger Added phenotypes ZELLWEGER SYNDROME 214100 for gene: PEX10
DDG2P v0.1 PEX10 Rebecca Foulger gene: PEX10 was added
gene: PEX10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to ADRENOLEUKODYSTROPHY NEONATAL 202370
DDG2P v0.1 PEX1 Rebecca Foulger Added phenotypes INFANTILE REFSUM DISEASE 266510 for gene: PEX1
DDG2P v0.1 PEX1 Rebecca Foulger Added phenotypes ADRENOLEUKODYSTROPHY NEONATAL 202370 for gene: PEX1
DDG2P v0.1 PEX1 Rebecca Foulger gene: PEX1 was added
gene: PEX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136
DDG2P v0.1 PET100 Rebecca Foulger gene: PET100 was added
gene: PET100 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 PEPD Rebecca Foulger gene: PEPD was added
gene: PEPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEPD were set to 17142620; 16470701; 19308961; 6637477; 1972707; 8900231; 2365824; 15309682
Phenotypes for gene: PEPD were set to PROLIDASE DEFICIENCY 170100
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 PDSS2 Rebecca Foulger gene: PDSS2 was added
gene: PDSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS2 were set to 17186472
Phenotypes for gene: PDSS2 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652
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 PDHX Rebecca Foulger gene: PDHX was added
gene: PDHX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDHX were set to 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299
Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349
DDG2P v0.1 PDHA1 Rebecca Foulger Added phenotypes INTELLECTUAL DISABILTIY 312170 for gene: PDHA1
DDG2P v0.1 PDHA1 Rebecca Foulger Added phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170 for gene: PDHA1
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 Added phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812 for gene: PDGFRB
Publications for gene PDGFRB were changed from 23731542 to 26279204
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 PDE6H Rebecca Foulger Added phenotypes RETINAL CONE DYSTROPHY 3 PDE6H 610024 for gene: PDE6H
Publications for gene PDE6H were changed from to 15629837; 22901948
DDG2P v0.1 PDE6H Rebecca Foulger gene: PDE6H was added
gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6H were set to ACHROMATOPSIA
DDG2P v0.1 PDE6G Rebecca Foulger gene: PDE6G was added
gene: PDE6G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDE6G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6G were set to 20655036
Phenotypes for gene: PDE6G were set to RETINITIS PIGMENTOSA 57 613582
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 PDCD10 Rebecca Foulger gene: PDCD10 was added
gene: PDCD10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDCD10 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285
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 PCNT Rebecca Foulger gene: PCNT was added
gene: PCNT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 18174396; 15372530; 19839044
Phenotypes for gene: PCNT were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720
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 PCCB Rebecca Foulger gene: PCCB was added
gene: PCCB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA 606054
DDG2P v0.1 PCCA Rebecca Foulger gene: PCCA was added
gene: PCCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 10820128; 8295402; 8225321; 10101253; 9683601; 9887338; 12189489; 17966092; 9385377; 8411997
Phenotypes for gene: PCCA were set to PROPIONIC ACIDEMIA 606054
DDG2P v0.1 PCBD1 Rebecca Foulger gene: PCBD1 was added
gene: PCBD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCBD1 were set to 8352282; 9585615
Phenotypes for gene: PCBD1 were set to HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070
DDG2P v0.1 PC Rebecca Foulger gene: PC was added
gene: PC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PC were set to 12112657; 9585612; 9585002; 19306334
Phenotypes for gene: PC were set to PYRUVATE CARBOXYLASE DEFICIENCY 266150
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 PAX6 Rebecca Foulger Added phenotypes ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 for gene: PAX6
Publications for gene PAX6 were changed from 12721955 to 17595013; 17148041
DDG2P v0.1 PAX6 Rebecca Foulger Added phenotypes ANIRIDIA 106210 for gene: PAX6
DDG2P v0.1 PAX6 Rebecca Foulger Added phenotypes BILATERAL OPTIC NERVE HYPOPLASIA 165550 for gene: PAX6
Publications for gene PAX6 were changed from 15629294; 9931324 to 12721955
DDG2P v0.1 PAX6 Rebecca Foulger Added phenotypes FOVEAL HYPOPLASIA 136520 for gene: PAX6
Publications for gene PAX6 were changed from 12721955 to 15629294; 9931324
DDG2P v0.1 PAX6 Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: PAX6
DDG2P v0.1 PAX6 Rebecca Foulger Added phenotypes COLOBOMA OF OPTIC NERVE 120430 for gene: PAX6
Publications for gene PAX6 were changed from 7668281 to 12721955
DDG2P v0.1 PAX6 Rebecca Foulger gene: PAX6 was added
gene: PAX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX6 were set to 7668281
Phenotypes for gene: PAX6 were set to KERATITIS HEREDITARY 148190
DDG2P v0.1 PAX3 Rebecca Foulger Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 for gene: PAX3
Publications for gene PAX3 were changed from 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 to 6859126
DDG2P v0.1 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX3 were set to 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267
Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 193500
DDG2P v0.1 PAX2 Rebecca Foulger gene: PAX2 was added
gene: PAX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAX2 were set to 11093271; 3377002; 2644560; 11461952; 9106533; 7795640; 9760197
Phenotypes for gene: PAX2 were set to RENAL-COLOBOMA SYNDROME 120330
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 PARN Rebecca Foulger gene: PARN was added
gene: PARN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PARN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PARN were set to 25893599
Phenotypes for gene: PARN were set to Dyskeratosis congenita, autosomal recessive 6
DDG2P v0.1 PAPSS2 Rebecca Foulger gene: PAPSS2 was added
gene: PAPSS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAPSS2 were set to 22791835; 9714015; 19474428
Phenotypes for gene: PAPSS2 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847
DDG2P v0.1 PALB2 Rebecca Foulger gene: PALB2 was added
gene: PALB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PALB2 were set to 17200671; 17200672
Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832
DDG2P v0.1 PAK3 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 30 300558 for gene: PAK3
Publications for gene PAK3 were changed from 24556213 to 17853471; 9332663; 8826460; 18523455; 12884430
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 PAH Rebecca Foulger Added phenotypes PHENYLKETONURIA 261600 for gene: PAH
DDG2P v0.1 PAH Rebecca Foulger gene: PAH was added
gene: PAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387
Phenotypes for gene: PAH were set to NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600
DDG2P v0.1 PAFAH1B1 Rebecca Foulger Added phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 for gene: PAFAH1B1
DDG2P v0.1 PAFAH1B1 Rebecca Foulger gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAFAH1B1 were set to 14581661; 10441340; 11502906; 15007136
Phenotypes for gene: PAFAH1B1 were set to LISSENCEPHALY TYPE 1 607432
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 P3H1 Rebecca Foulger gene: P3H1 was added
gene: P3H1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P3H1 were set to 17277775; 19088120
Phenotypes for gene: P3H1 were set to OSTEOGENESIS IMPERFECTA, TYPE VIII 610915
DDG2P v0.1 OXCT1 Rebecca Foulger gene: OXCT1 was added
gene: OXCT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXCT1 were set to 23281106; 1405472; 9671268; 10964512
Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050
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 OTULIN Rebecca Foulger gene: OTULIN was added
gene: OTULIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27686184; 27523608; 27559085
Phenotypes for gene: OTULIN were set to Otulin-related auto inflammatory syndrome
DDG2P v0.1 OTUD7A Rebecca Foulger gene: OTUD7A was added
gene: OTUD7A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: OTUD7A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTUD7A were set to 29395074
Phenotypes for gene: OTUD7A were set to 15q13.3 deletions phenocopy
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 OTOGL Rebecca Foulger gene: OTOGL was added
gene: OTOGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTOGL were set to 23122586
Phenotypes for gene: OTOGL were set to MODERATE SENSORINEURAL HEARING LOSS 614944
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 ORC6 Rebecca Foulger gene: ORC6 was added
gene: ORC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC6 were set to 7710253
Phenotypes for gene: ORC6 were set to MEIER-GORLIN SYNDROME 3 613803
DDG2P v0.1 ORC4 Rebecca Foulger gene: ORC4 was added
gene: ORC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC4 were set to 11477602
Phenotypes for gene: ORC4 were set to MEIER-GORLIN SYNDROME 2 613800
DDG2P v0.1 ORC1 Rebecca Foulger gene: ORC1 was added
gene: ORC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ORC1 were set to 21358633
Phenotypes for gene: ORC1 were set to MEIER-GORLIN SYNDROME 1 224690
DDG2P v0.1 OPHN1 Rebecca Foulger gene: OPHN1 was added
gene: OPHN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OPHN1 were set to 12805098; 12807966; 16158428; 20528889; 9582072
Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486
DDG2P v0.1 OFD1 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 10 300804 for gene: OFD1
Publications for gene OFD1 were changed from 16783569 to 22353940; 19800048
DDG2P v0.1 OFD1 Rebecca Foulger Added phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209 for gene: OFD1
Publications for gene OFD1 were changed from 9198060; 15221448; 9482645; 11179005; 11950863 to 16783569
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 OCRL Rebecca Foulger Added phenotypes DENT DISEASE TYPE 2 300555 for gene: OCRL
Publications for gene OCRL were changed from 9632163 to 15627218
DDG2P v0.1 OCRL Rebecca Foulger gene: OCRL was added
gene: OCRL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OCRL were set to 9632163
Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME 309000
DDG2P v0.1 OBSL1 Rebecca Foulger gene: OBSL1 was added
gene: OBSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OBSL1 were set to 19481195
Phenotypes for gene: OBSL1 were set to 3-M SYNDROME 2 612921
DDG2P v0.1 NYX Rebecca Foulger gene: NYX was added
gene: NYX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NYX were set to 11062471; 16670814; 11062472
Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500
DDG2P v0.1 NUS1 Rebecca Foulger gene: NUS1 was added
gene: NUS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NUS1 were set to 29100083
Phenotypes for gene: NUS1 were set to Epilepsy and intellectual disability
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 NUP107 Rebecca Foulger gene: NUP107 was added
gene: NUP107 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP107 were set to 26411495
Phenotypes for gene: NUP107 were set to EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
DDG2P v0.1 NUBPL Rebecca Foulger gene: NUBPL was added
gene: NUBPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
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 NT5C3A Rebecca Foulger gene: NT5C3A was added
gene: NT5C3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C3A were set to HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120
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 SOTOS SYNDROME 117550 for gene: NSD1
Publications for gene NSD1 were changed from to 12525543; 11896389; 16222665
DDG2P v0.1 NSD1 Rebecca Foulger Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: NSD1
DDG2P v0.1 NSD1 Rebecca Foulger gene: NSD1 was added
gene: NSD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD1 were set to WEAVER SYNDROME 277590
DDG2P v0.1 NRXN3 Rebecca Foulger gene: NRXN3 was added
gene: NRXN3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NRXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRXN3 were set to 22209245
Phenotypes for gene: NRXN3 were set to AUTISM 209850
DDG2P v0.1 NRXN2 Rebecca Foulger gene: NRXN2 was added
gene: NRXN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NRXN2 were set to AUTISM 209850
DDG2P v0.1 NRXN1 Rebecca Foulger Added phenotypes PITT HOPKINS 2 for gene: NRXN1
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 Added phenotypes SPERMATOGENIC FAILURE 8 613957 for gene: NR5A1
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 NR2F2 Rebecca Foulger gene: NR2F2 was added
gene: NR2F2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR2F2 were set to 24702954
Phenotypes for gene: NR2F2 were set to CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779
DDG2P v0.1 NR2F1 Rebecca Foulger gene: NR2F1 was added
gene: NR2F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NR2F1 were set to 24462372
Phenotypes for gene: NR2F1 were set to BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722
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 NPR2 Rebecca Foulger gene: NPR2 was added
gene: NPR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875
DDG2P v0.1 NPHS2 Rebecca Foulger gene: NPHS2 was added
gene: NPHS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHS2 were set to 12464671; 8589695; 8606597; 10742096
Phenotypes for gene: NPHS2 were set to NEPHROTIC SYNDROME, TYPE 2 600995
DDG2P v0.1 NPHS1 Rebecca Foulger gene: NPHS1 was added
gene: NPHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHS1 were set to 17290294; 11854170; 10577936; 9660941; 10652016
Phenotypes for gene: NPHS1 were set to NEPHROTIC SYNDROME TYPE 1 256300
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 NPHP3 Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 for gene: NPHP3
DDG2P v0.1 NPHP3 Rebecca Foulger gene: NPHP3 was added
gene: NPHP3 was added to DDG2P. Sources:
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to MECKEL SYNDROME TYPE 7 267010
DDG2P v0.1 NPHP1 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 4 609583 for gene: NPHP1
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 NPHP1 Rebecca Foulger gene: NPHP1 was added
gene: NPHP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to SENIOR-LOKEN SYNDROME TYPE 1 266900
DDG2P v0.1 NPC2 Rebecca Foulger gene: NPC2 was added
gene: NPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 11125141; 11567215; 12447927; 17470133
Phenotypes for gene: NPC2 were set to NIEMANN-PICK DISEASE, TYPE C2 607625
DDG2P v0.1 NPC1 Rebecca Foulger gene: NPC1 was added
gene: NPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849
Phenotypes for gene: NPC1 were set to NIEMANN-PICK DISEASE, TYPE C1 257220
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 NOTCH1 Rebecca Foulger Added phenotypes ADAMS OLIVER SYNDROME for gene: NOTCH1
Publications for gene NOTCH1 were changed from 16025100 to 25132448
DDG2P v0.1 NOTCH1 Rebecca Foulger gene: NOTCH1 was added
gene: NOTCH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH1 were set to 16025100
Phenotypes for gene: NOTCH1 were set to LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730
DDG2P v0.1 NOP10 Rebecca Foulger Added phenotypes NOP10-RELATED DYSKERATOSIS CONGENITA 318811 for gene: NOP10
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 NONO Rebecca Foulger gene: NONO was added
gene: NONO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731
Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
DDG2P v0.1 NOG Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE B2 611377 for gene: NOG
Publications for gene NOG were changed from 11545688; 4019538 to 17668388
DDG2P v0.1 NOG Rebecca Foulger Added phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 for gene: NOG
Publications for gene NOG were changed from 20503332; 11846737; 16532400; 3667255; 15770128 to 11545688; 4019538
DDG2P v0.1 NOG Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500 for gene: NOG
Publications for gene NOG were changed from 10069712; 12089654 to 20503332; 11846737; 16532400; 3667255; 15770128
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 NOG Rebecca Foulger gene: NOG was added
gene: NOG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NOG were set to SYMPHALANGISM PROXIMAL SYNDROME 185800
DDG2P v0.1 NODAL Rebecca Foulger gene: NODAL was added
gene: NODAL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NODAL were set to HETEROTAXY SYNDROME 207574
DDG2P v0.1 NMNAT1 Rebecca Foulger gene: NMNAT1 was added
gene: NMNAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 22842227; 22842230; 12734549
Phenotypes for gene: NMNAT1 were set to LEBER CONGENITAL AMAUROSIS 608553
DDG2P v0.1 NLRP5 Rebecca Foulger gene: NLRP5 was added
gene: NLRP5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NLRP5 was set to
Publications for gene: NLRP5 were set to 26323243
Phenotypes for gene: NLRP5 were set to Multilocus imprinting disorder
DDG2P v0.1 NLGN4X Rebecca Foulger gene: NLGN4X was added
gene: NLGN4X was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NLGN4X were set to SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495
DDG2P v0.1 NLGN3 Rebecca Foulger gene: NLGN3 was added
gene: NLGN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NLGN3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NLGN3 were set to 12669065
Phenotypes for gene: NLGN3 were set to AUTISM SPECTRUM DISORDERS 198890
DDG2P v0.1 NKX6-2 Rebecca Foulger gene: NKX6-2 was added
gene: NKX6-2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 28575651
Phenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination
DDG2P v0.1 NKX3-2 Rebecca Foulger gene: NKX3-2 was added
gene: NKX3-2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330
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 Added phenotypes TETRALOGY OF FALLOT 187500 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 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NKX2-1 were set to BENIGN HEREDITARY CHOREA 118700
DDG2P v0.1 NIPBL Rebecca Foulger gene: NIPBL was added
gene: NIPBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPBL were set to 15146185; 16799922; 15146186; 15318302; 11391654
Phenotypes for gene: NIPBL were set to CORNELIA DE LANGE SYNDROME TYPE 1 122470
DDG2P v0.1 NHS Rebecca Foulger Added phenotypes CATARACT CONGENITAL X-LINKED 302200 for gene: NHS
Publications for gene NHS were changed from 15623749; 458526; 14564667; 2246772 to 19414485; 11836358
DDG2P v0.1 NHS Rebecca Foulger gene: NHS was added
gene: NHS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NHS were set to 15623749; 458526; 14564667; 2246772
Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME 302350
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 NGLY1 Rebecca Foulger gene: NGLY1 was added
gene: NGLY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NGLY1 were set to 24651605
Phenotypes for gene: NGLY1 were set to CONGENITAL DISORDER OF DEGLYCOSYLATION 615273
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 NFIX Rebecca Foulger gene: NFIX was added
gene: NFIX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIX were set to 22301465; 20673863
Phenotypes for gene: NFIX were set to SOTOS-LIKE SYNDROME 614753
DDG2P v0.1 NFIA Rebecca Foulger gene: NFIA was added
gene: NFIA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFIA were set to 17530927
Phenotypes for gene: NFIA were set to CHROMOSOME 1P32-P31 DELETION SYNDROME 613735
DDG2P v0.1 NF1 Rebecca Foulger Added phenotypes FAMILIAL SPINAL NEUROFIBROMATOSIS 162210 for gene: NF1
Publications for gene NF1 were changed from 1302608; 8317503 to 1745350; 9529361; 11704931
DDG2P v0.1 NF1 Rebecca Foulger Added phenotypes WATSON SYNDROME 193520 for gene: NF1
Publications for gene NF1 were changed from 11258625; 15520408; 9003501; 9668168; 12483293; 8664912; 1302608; 19449407; 15523642; 1783401; 1719426; 10712197; 1568247; 1937470; 13680360; 7633431; 12438263; 10677298; 15948193 to 1302608; 8317503
DDG2P v0.1 NF1 Rebecca Foulger Added phenotypes NEUROFIBROMATOSIS TYPE 1 162200 for gene: NF1
Publications for gene NF1 were changed from 12707950; 19845691 to 11258625; 15520408; 9003501; 9668168; 12483293; 8664912; 1302608; 19449407; 15523642; 1783401; 1719426; 10712197; 1568247; 1937470; 13680360; 7633431; 12438263; 10677298; 15948193
DDG2P v0.1 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NF1 were set to 12707950; 19845691
Phenotypes for gene: NF1 were set to NEUROFIBROMATOSIS-NOONAN SYNDROME 601321
DDG2P v0.1 NEXMIF Rebecca Foulger Added phenotypes Intellectual disability and epilepsy for gene: NEXMIF
Publications for gene NEXMIF were changed from 15466006; 23615299 to 27568816; 26576034; 27358180
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 NEU1 Rebecca Foulger gene: NEU1 was added
gene: NEU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEU1 were set to 10767332; 8985184; 14695530; 10944856; 9054950; 11470272; 11702224; 11829139
Phenotypes for gene: NEU1 were set to SIALIDOSIS 256550
DDG2P v0.1 NEK8 Rebecca Foulger Added phenotypes RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 615415 for gene: NEK8
Publications for gene NEK8 were changed from 18199800 to 23418306
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 NEK1 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 for gene: NEK1
DDG2P v0.1 NEK1 Rebecca Foulger gene: NEK1 was added
gene: NEK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520
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 NECTIN4 Rebecca Foulger gene: NECTIN4 was added
gene: NECTIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NECTIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN4 were set to 1646587; 21346770; 20691405
Phenotypes for gene: NECTIN4 were set to ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573
DDG2P v0.1 NECTIN1 Rebecca Foulger gene: NECTIN1 was added
gene: NECTIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NECTIN1 were set to 10932188
Phenotypes for gene: NECTIN1 were set to CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060
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 NDUFS7 Rebecca Foulger gene: NDUFS7 was added
gene: NDUFS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
DDG2P v0.1 NDUFS4 Rebecca Foulger Added phenotypes LEIGH SYNDROME DUP 256000 for gene: NDUFS4
DDG2P v0.1 NDUFS4 Rebecca Foulger Added phenotypes LEIGH SYNDROME 256000 for gene: NDUFS4
DDG2P v0.1 NDUFS4 Rebecca Foulger gene: NDUFS4 was added
gene: NDUFS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
DDG2P v0.1 NDUFS1 Rebecca Foulger Added phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 for gene: NDUFS1
DDG2P v0.1 NDUFS1 Rebecca Foulger gene: NDUFS1 was added
gene: NDUFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to LEIGH SYNDROME 256000
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 NDUFAF2 Rebecca Foulger gene: NDUFAF2 was added
gene: NDUFAF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME 256000
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 NDUFA1 Rebecca Foulger gene: NDUFA1 was added
gene: NDUFA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010
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 NDP Rebecca Foulger gene: NDP was added
gene: NDP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NDP were set to 8240113; 1307245; 1303264; 8069314; 17334993; 8268931; 8790105; 7814011; 9143918; 8990009; 9382152
Phenotypes for gene: NDP were set to NORRIE DISEASE 310600
DDG2P v0.1 NDE1 Rebecca Foulger gene: NDE1 was added
gene: NDE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDE1 were set to 21529751; 21529752
Phenotypes for gene: NDE1 were set to LISSENCEPHALY 4 614019
DDG2P v0.1 NCAPH Rebecca Foulger gene: NCAPH was added
gene: NCAPH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: NCAPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPH were set to 27737959
Phenotypes for gene: NCAPH were set to microcephaly
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 NBN Rebecca Foulger gene: NBN was added
gene: NBN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to 3802554; 9590180
Phenotypes for gene: NBN were set to NIJMEGEN BREAKAGE SYNDROME 251260
DDG2P v0.1 NBAS Rebecca Foulger gene: NBAS was added
gene: NBAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 26073778
Phenotypes for gene: NBAS were set to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD
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 NANS Rebecca Foulger gene: NANS was added
gene: NANS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 27213289
Phenotypes for gene: NANS were set to infantile-onset severe developmental delay and skeletal dysplasia
DDG2P v0.1 NALCN Rebecca Foulger Added phenotypes SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY for gene: NALCN
Publications for gene NALCN were changed from 23749988 to 24075186
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 NAGLU Rebecca Foulger gene: NAGLU was added
gene: NAGLU was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to 12202988; 11068184; 10094189; 9832037; 8650226; 21937992
Phenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B 252920
DDG2P v0.1 NAGA Rebecca Foulger Added phenotypes SCHINDLER DISEASE 609241 for gene: NAGA
Publications for gene NAGA were changed from 11251574; 8782044; 2564952 to 2243144; 8071745
DDG2P v0.1 NAGA Rebecca Foulger gene: NAGA was added
gene: NAGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAGA were set to 11251574; 8782044; 2564952
Phenotypes for gene: NAGA were set to KANZAKI DISEASE 609242
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 NAA15 Rebecca Foulger gene: NAA15 was added
gene: NAA15 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NAA15 were set to 28191889; 23665959
Phenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER
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 Added phenotypes OGDEN SYNDROME 300855 for gene: NAA10
Publications for gene NAA10 were changed from 25099252 to 21700266
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 MYT1L Rebecca Foulger Added phenotypes MYT1L syndrome for gene: MYT1L
DDG2P v0.1 MYT1L Rebecca Foulger gene: MYT1L was added
gene: MYT1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MYT1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYT1L were set to INTELLECTUAL DISABILITY
DDG2P v0.1 MYT1 Rebecca Foulger gene: MYT1 was added
gene: MYT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYT1 were set to 27358179
Phenotypes for gene: MYT1 were set to OAVS/Goldenhar syndrome
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 MYOC Rebecca Foulger gene: MYOC was added
gene: MYOC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MYOC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYOC were set to PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300
DDG2P v0.1 MYO7A Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1B 276900 for gene: MYO7A
Publications for gene MYO7A were changed from 9171833 to 7870171
DDG2P v0.1 MYO7A Rebecca Foulger gene: MYO7A was added
gene: MYO7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO7A were set to 9171833
Phenotypes for gene: MYO7A were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060
DDG2P v0.1 MYO5B Rebecca Foulger gene: MYO5B was added
gene: MYO5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO5B were set to 18724368; 19006234
Phenotypes for gene: MYO5B were set to MICROVILLUS INCLUSION DISEASE 251850
DDG2P v0.1 MYO5A Rebecca Foulger Added phenotypes GRISCELLI SYNDROME TYPE 3 609227 for gene: MYO5A
Publications for gene MYO5A were changed from to 12148598
DDG2P v0.1 MYO5A Rebecca Foulger gene: MYO5A was added
gene: MYO5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5A were set to ELEJALDE SYNDROME 256710
DDG2P v0.1 MYLK Rebecca Foulger gene: MYLK was added
gene: MYLK was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MYLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYLK were set to 28602422
Phenotypes for gene: MYLK were set to Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
DDG2P v0.1 MYH9 Rebecca Foulger Added phenotypes MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208 for gene: MYH9
DDG2P v0.1 MYH9 Rebecca Foulger Added phenotypes FECHTNER SYNDROME 153640 for gene: MYH9
DDG2P v0.1 MYH9 Rebecca Foulger Added phenotypes EPSTEIN SYNDROME 153650 for gene: MYH9
DDG2P v0.1 MYH9 Rebecca Foulger Added phenotypes MAY-HEGGLIN ANOMALY 155100 for gene: MYH9
DDG2P v0.1 MYH9 Rebecca Foulger Added phenotypes SEBASTIAN SYNDROME 605249 for gene: MYH9
Publications for gene MYH9 were changed from to 25077172
DDG2P v0.1 MYH9 Rebecca Foulger gene: MYH9 was added
gene: MYH9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH9 were set to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622
DDG2P v0.1 MYH8 Rebecca Foulger Added phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 for gene: MYH8
DDG2P v0.1 MYH8 Rebecca Foulger gene: MYH8 was added
gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837
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 MYH11 Rebecca Foulger gene: MYH11 was added
gene: MYH11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 29575632; 25407000
Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
DDG2P v0.1 MYH10 Rebecca Foulger gene: MYH10 was added
gene: MYH10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH10 were set to 25356899; 25003005
Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies
DDG2P v0.1 MYCN Rebecca Foulger gene: MYCN was added
gene: MYCN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYCN were set to 16906565; 18470948; 18671284; 15821734
Phenotypes for gene: MYCN were set to FEINGOLD SYNDROME TYPE 1 164280
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 MT-TP Rebecca Foulger gene: MT-TP was added
gene: MT-TP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF 545000
DDG2P v0.1 MTRR Rebecca Foulger gene: MTRR was added
gene: MTRR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 12555939; 15714522; 9501215
Phenotypes for gene: MTRR were set to HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270
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 MTF1 Rebecca Foulger gene: MTF1 was added
gene: MTF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MTF1 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 MSX2 Rebecca Foulger Added phenotypes CRANIOSYNOSTOSIS, TYPE 2 604757 for gene: MSX2
DDG2P v0.1 MSX2 Rebecca Foulger gene: MSX2 was added
gene: MSX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MSX2 were set to 14571277
Phenotypes for gene: MSX2 were set to ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550
DDG2P v0.1 MSX1 Rebecca Foulger gene: MSX1 was added
gene: MSX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MSX1 were set to 12807959; 15354328
Phenotypes for gene: MSX1 were set to CLEFT LIP +/- CLEFT PALATE 608874
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 MRE11 Rebecca Foulger gene: MRE11 was added
gene: MRE11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRE11 were set to 10612394
Phenotypes for gene: MRE11 were set to ATAXIA TELANGIECTASIA-LIKE DISORDER 604391
DDG2P v0.1 MPV17 Rebecca Foulger gene: MPV17 was added
gene: MPV17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPV17 were set to 18695062; 16582910
Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810
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 MPI Rebecca Foulger gene: MPI was added
gene: MPI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPI were set to 9585601; 9525984; 3080572
Phenotypes for gene: MPI were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
DDG2P v0.1 MPDZ Rebecca Foulger gene: MPDZ was added
gene: MPDZ was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 23240096
Phenotypes for gene: MPDZ were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219
DDG2P v0.1 MPDU1 Rebecca Foulger gene: MPDU1 was added
gene: MPDU1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDU1 were set to 11733556; 11733564
Phenotypes for gene: MPDU1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
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 MOCS2 Rebecca Foulger gene: MOCS2 was added
gene: MOCS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707
DDG2P v0.1 MOCS1 Rebecca Foulger gene: MOCS1 was added
gene: MOCS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to MOLYBDENUM COFACTOR DEFICIENCY 603707
DDG2P v0.1 MNX1 Rebecca Foulger gene: MNX1 was added
gene: MNX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MNX1 were set to 9843207; 15216552; 10631160; 16906559; 7550324
Phenotypes for gene: MNX1 were set to CURRARINO SYNDROME 176450
DDG2P v0.1 MMP21 Rebecca Foulger gene: MMP21 was added
gene: MMP21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP21 were set to 26437028; 26437029; 26429889
Phenotypes for gene: MMP21 were set to MMP21-associated heterotaxy
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 Added phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 602111 for gene: MMP13
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 MLYCD Rebecca Foulger gene: MLYCD was added
gene: MLYCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
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 MKS1 Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 13 209900 for gene: MKS1
DDG2P v0.1 MKS1 Rebecca Foulger gene: MKS1 was added
gene: MKS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKS1 were set to 17377820; 16415886
Phenotypes for gene: MKS1 were set to MECKEL SYNDROME TYPE 1 249000
DDG2P v0.1 MKKS Rebecca Foulger Added phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 for gene: MKKS
DDG2P v0.1 MKKS Rebecca Foulger gene: MKKS was added
gene: MKKS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKKS were set to 10802661
Phenotypes for gene: MKKS were set to MCKUSICK-KAUFMAN SYNDROME 236700
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 Added phenotypes WAARDENBURG SYNDROME TYPE 2A 193510 for gene: MITF
Publications for gene MITF were changed from 8589691; 10851256 to 8490648; 8589691; 7874167; 9856573
DDG2P v0.1 MITF Rebecca Foulger Added phenotypes TIETZ SYNDROME 103500 for gene: MITF
Publications for gene MITF were changed from 9158138 to 8589691; 10851256
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 MIR17HG Rebecca Foulger gene: MIR17HG was added
gene: MIR17HG was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MIR17HG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIR17HG were set to 21892160
Phenotypes for gene: MIR17HG were set to FEINGOLD SYNDROME 614326
DDG2P v0.1 MID1 Rebecca Foulger gene: MID1 was added
gene: MID1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MID1 were set to 17221865; 12545276; 15558842
Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED 300000
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 MGP Rebecca Foulger gene: MGP was added
gene: MGP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGP were set to 9916809; 15810001
Phenotypes for gene: MGP were set to KEUTEL SYNDROME 245150
DDG2P v0.1 MGAT2 Rebecca Foulger gene: MGAT2 was added
gene: MGAT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MGAT2 were set to 11228641; 20684000; 8808595
Phenotypes for gene: MGAT2 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066
DDG2P v0.1 MFSD8 Rebecca Foulger gene: MFSD8 was added
gene: MFSD8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951
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 MESP2 Rebecca Foulger gene: MESP2 was added
gene: MESP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESP2 were set to 18485326; 15122512
Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681
DDG2P v0.1 MEOX1 Rebecca Foulger gene: MEOX1 was added
gene: MEOX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEOX1 were set to KLIPPEL-FEIL ANOMALY 118100
DDG2P v0.1 MEGF8 Rebecca Foulger gene: MEGF8 was added
gene: MEGF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to CARPENTER SYNDROME 201000
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 MEF2C Rebecca Foulger gene: MEF2C was added
gene: MEF2C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MEF2C were set to 20513142; 23001426; 19592390
Phenotypes for gene: MEF2C were set to MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443
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 MED13L Rebecca Foulger gene: MED13L was added
gene: MED13L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13L were set to 23403903
Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY
DDG2P v0.1 MED12 Rebecca Foulger Added phenotypes LUJAN-FRYNS SYNDROME 309520 for gene: MED12
Publications for gene MED12 were changed from 17334363 to 6711603
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 MECR Rebecca Foulger gene: MECR was added
gene: MECR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MECR were set to 27817865
Phenotypes for gene: MECR were set to Childhood-Onset Dystonia and Optic Atrophy
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 Added phenotypes CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 for gene: MECP2
Publications for gene MECP2 were changed from 9377804; 12615169; 16966553; 10232754; 11007980; 11807877 to 29618507
DDG2P v0.1 MECP2 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 for gene: MECP2
Publications for gene MECP2 were changed from 15689435 to 9377804; 12615169; 16966553; 10232754; 11007980; 11807877
DDG2P v0.1 MECP2 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 for gene: MECP2
Publications for gene MECP2 were changed from 15034579; 10577905; 16630165; 10508514; 19034540; 5300597; 11313756; 18989701; 12481990; 10767337; 11214906; 11022934; 11930274; 10814718; 15857422; 10854091 to 15689435
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 MCPH1 Rebecca Foulger gene: MCPH1 was added
gene: MCPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCPH1 were set to 12046007; 7693575; 11857108; 16311745; 20978018
Phenotypes for gene: MCPH1 were set to MICROCEPHALY PRIMARY TYPE 1 251200
DDG2P v0.1 MCOLN1 Rebecca Foulger gene: MCOLN1 was added
gene: MCOLN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCOLN1 were set to 10441585; 15523648; 17239335; 10973263; 11030752
Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV 252650
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 MC2R Rebecca Foulger gene: MC2R was added
gene: MC2R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MC2R were set to 8227361; 18407210; 12213892; 18492762; 8636348; 8094489
Phenotypes for gene: MC2R were set to GLUCOCORTICOID DEFICIENCY 1 202200
DDG2P v0.1 MBOAT7 Rebecca Foulger gene: MBOAT7 was added
gene: MBOAT7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBOAT7 were set to 27616480
Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features
DDG2P v0.1 MBD5 Rebecca Foulger gene: MBD5 was added
gene: MBD5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MBD5 were set to EHMT1-LIKE INTELLECTUAL DISABILITY
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 MASP1 Rebecca Foulger gene: MASP1 was added
gene: MASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MASP1 were set to 17937425; 21258343; 21035106
Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1 257920
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 Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: MAP3K7
Publications for gene MAP3K7 were changed from 27426734 to 27426734; 27426733
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 MAP3K1 Rebecca Foulger gene: MAP3K1 was added
gene: MAP3K1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAP3K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K1 were set to 5419329; 21129722; 12476449
Phenotypes for gene: MAP3K1 were set to 46XY SEX REVERSAL 6 613762
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 MAOA Rebecca Foulger gene: MAOA was added
gene: MAOA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAOA were set to 24169519
Phenotypes for gene: MAOA were set to BRUNNER SYNDROME 300615
DDG2P v0.1 MANBA Rebecca Foulger gene: MANBA was added
gene: MANBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MANBA were set to 16401745; 12890191; 3762648; 1499588; 2079835; 1623631
Phenotypes for gene: MANBA were set to LYSOSOMAL BETA-MANNOSIDOSIS 248510
DDG2P v0.1 MAN2B1 Rebecca Foulger gene: MAN2B1 was added
gene: MAN2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B1 were set to 22161967; 4358183; 9158146; 9758606
Phenotypes for gene: MAN2B1 were set to LYSOSOMAL ALPHA-MANNOSIDOSIS 248500
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 MAMLD1 Rebecca Foulger gene: MAMLD1 was added
gene: MAMLD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAMLD1 were set to 17086185
Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2 300758
DDG2P v0.1 MAGT1 Rebecca Foulger gene: MAGT1 was added
gene: MAGT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MAGT1 were set to 18455129
Phenotypes for gene: MAGT1 were set to MENTAL RETARDATION X-LINKED TYPE 95 300716
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 MAGEL2 Rebecca Foulger gene: MAGEL2 was added
gene: MAGEL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAGEL2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: MAGEL2 were set to 27195816; 24076603
Phenotypes for gene: MAGEL2 were set to Schaaf-Yang syndrome
DDG2P v0.1 MAFB Rebecca Foulger Added phenotypes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects for gene: MAFB
Publications for gene MAFB were changed from 22387013 to 27181683
DDG2P v0.1 MAFB Rebecca Foulger gene: MAFB was added
gene: MAFB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAFB were set to 22387013
Phenotypes for gene: MAFB were set to MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300
DDG2P v0.1 MAF Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 4 610202 for gene: MAF
DDG2P v0.1 MAF Rebecca Foulger Added phenotypes CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 for gene: MAF
Publications for gene MAF were changed from to 16470690; 11772997
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 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 8896560; 9215679; 8751863; 11857544; 10482950; 9215680
Phenotypes for gene: LYST were set to CHEDIAK-HIGASHI SYNDROME 214500
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 LTBP2 Rebecca Foulger Added phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 for gene: LTBP2
Publications for gene LTBP2 were changed from 20617341; 22025892; 20179738 to 19656777; 19361779
DDG2P v0.1 LTBP2 Rebecca Foulger gene: LTBP2 was added
gene: LTBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LTBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP2 were set to 20617341; 22025892; 20179738
Phenotypes for gene: LTBP2 were set to MICROSPHEROPHAKIA 251750
DDG2P v0.1 LRRC6 Rebecca Foulger gene: LRRC6 was added
gene: LRRC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRC6 were set to 23122589
Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA 614935
DDG2P v0.1 LRPPRC Rebecca Foulger gene: LRPPRC was added
gene: LRPPRC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPPRC were set to 12529507
Phenotypes for gene: LRPPRC were set to LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111
DDG2P v0.1 LRPAP1 Rebecca Foulger gene: LRPAP1 was added
gene: LRPAP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LRPAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRPAP1 were set to 23830514
Phenotypes for gene: LRPAP1 were set to MYOPIA 23, AUTOSOMAL RECESSIVE 615431; EXTREME MYOPIA
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 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770 for gene: LRP5
Publications for gene LRP5 were changed from 9056564; 9831343; 15024691; 15981244 to 20034086; 11719191
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 Added phenotypes OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634 for gene: LRP5
Publications for gene LRP5 were changed from 11741193; 14727154 to 12579474
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 LRP4 Rebecca Foulger gene: LRP4 was added
gene: LRP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP4 were set to 11260233; 14577675; 9182770; 10756427; 18978656; 20381006; 12868467
Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME 212780
DDG2P v0.1 LRP2 Rebecca Foulger Added phenotypes DONNAI-BARROW SYNDROME 222448 for gene: LRP2
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 LRIT3 Rebecca Foulger gene: LRIT3 was added
gene: LRIT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIT3 were set to 23246293
Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058
DDG2P v0.1 LRIG2 Rebecca Foulger gene: LRIG2 was added
gene: LRIG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to UROFACIAL SYNDROME 236730
DDG2P v0.1 LRBA Rebecca Foulger gene: LRBA was added
gene: LRBA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 22608502
Phenotypes for gene: LRBA were set to CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700
DDG2P v0.1 LRAT Rebecca Foulger gene: LRAT was added
gene: LRAT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to LEBER CONGENITAL AMAUROSIS 608553
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 LMX1B Rebecca Foulger gene: LMX1B was added
gene: LMX1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMX1B were set to 9618165; 9837817; 10854116; 9590287; 18414507
Phenotypes for gene: LMX1B were set to NAIL-PATELLA SYNDROME 161200
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes HEART-HAND SYNDROME SLOVENIAN TYPE 610140 for gene: LMNA
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 LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 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 MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205 for gene: LMNA
DDG2P v0.1 LMNA Rebecca Foulger Added phenotypes HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 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 FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660 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 LINS1 Rebecca Foulger gene: LINS1 was added
gene: LINS1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINS1 were set to 21937992
Phenotypes for gene: LINS1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 LIG4 Rebecca Foulger gene: LIG4 was added
gene: LIG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG4 were set to 11779494
Phenotypes for gene: LIG4 were set to LIG4 SYNDROME 606593
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 LHX4 Rebecca Foulger gene: LHX4 was added
gene: LHX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LHX4 were set to LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135
DDG2P v0.1 LHX3 Rebecca Foulger gene: LHX3 was added
gene: LHX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LHX3 were set to 18407919; 17327381; 10835633
Phenotypes for gene: LHX3 were set to PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750
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 LEMD3 Rebecca Foulger Added phenotypes MELORHEOSTOSIS 155950 for gene: LEMD3
DDG2P v0.1 LEMD3 Rebecca Foulger gene: LEMD3 was added
gene: LEMD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LEMD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD3 were set to 17223882; 19438932; 12749062; 9295073; 15489854
Phenotypes for gene: LEMD3 were set to BUSCHKE-OLLENDORFF SYNDROME 166700
DDG2P v0.1 LEFTY2 Rebecca Foulger gene: LEFTY2 was added
gene: LEFTY2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LEFTY2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEFTY2 were set to 10053005
Phenotypes for gene: LEFTY2 were set to HETEROTAXY SYNDROME 207574
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 LAS1L Rebecca Foulger gene: LAS1L was added
gene: LAS1L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: LAS1L was set to
Publications for gene: LAS1L were set to 25644381
Phenotypes for gene: LAS1L were set to INTELLECTUAL DISABILITY
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 LARP7 Rebecca Foulger gene: LARP7 was added
gene: LARP7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARP7 were set to 26374271; 21937992; 26607181
Phenotypes for gene: LARP7 were set to ALAZAMI SYNDROME 615071
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 LAMP2 Rebecca Foulger gene: LAMP2 was added
gene: LAMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAMP2 were set to 12112061; 15673802; 3087571; 10972294; 15253947; 8504498; 15907287
Phenotypes for gene: LAMP2 were set to DANON DISEASE 300257
DDG2P v0.1 LAMC3 Rebecca Foulger gene: LAMC3 was added
gene: LAMC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMC3 were set to 21572413
Phenotypes for gene: LAMC3 were set to OCCIPITAL CORTICAL MALFORMATIONS 614115
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 LAMA2 Rebecca Foulger gene: LAMA2 was added
gene: LAMA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA2 were set to 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858
Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY 607855
DDG2P v0.1 LAMA1 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: LAMA1
Publications for gene LAMA1 were changed from 25105227 to 21937992
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 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 19911013; 15385440
Phenotypes for gene: L2HGDH were set to L-2-HYDROXYGLUTARIC ACIDURIA 236792
DDG2P v0.1 L1CAM Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 for gene: L1CAM
Publications for gene L1CAM were changed from 26916325 to 7920659; 7920660; 3460961
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 KRIT1 Rebecca Foulger gene: KRIT1 was added
gene: KRIT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860
DDG2P v0.1 KRAS Rebecca Foulger Added phenotypes NOONAN SYNDROME TYPE 3 609942 for gene: KRAS
Publications for gene KRAS were changed from to 16773572; 16474405; 19396835
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 KPTN Rebecca Foulger gene: KPTN was added
gene: KPTN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KPTN were set to 24239382
Phenotypes for gene: KPTN were set to MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
DDG2P v0.1 KPNA7 Rebecca Foulger gene: KPNA7 was added
gene: KPNA7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KPNA7 was set to
Publications for gene: KPNA7 were set to 24045845
Phenotypes for gene: KPNA7 were set to Gomez-Lopez-Fernandes syndrome
DDG2P v0.1 KMT5B Rebecca Foulger gene: KMT5B was added
gene: KMT5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT5B were set to 29276005; 28135719
Phenotypes for gene: KMT5B were set to KMT5B syndrome
DDG2P v0.1 KMT2E Rebecca Foulger gene: KMT2E was added
gene: KMT2E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2E were set to INTELLECTUAL DISABILITY
DDG2P v0.1 KMT2D Rebecca Foulger gene: KMT2D was added
gene: KMT2D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2D were set to KABUKI SYNDROME 147920
DDG2P v0.1 KMT2C Rebecca Foulger gene: KMT2C was added
gene: KMT2C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2C were set to 29276005; 29069077
Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY
DDG2P v0.1 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417; 27839873
Phenotypes for gene: KMT2B were set to Complex early-onset dystonia
DDG2P v0.1 KMT2A Rebecca Foulger gene: KMT2A was added
gene: KMT2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KMT2A were set to WIEDEMANN-STEINER SYNDROME 605130
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 KLHL15 Rebecca Foulger gene: KLHL15 was added
gene: KLHL15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KLHL15 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KLHL15 were set to 25644381
Phenotypes for gene: KLHL15 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 KLF8 Rebecca Foulger gene: KLF8 was added
gene: KLF8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KLF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF8 were set to 22495311
Phenotypes for gene: KLF8 were set to NONSYNDROMIC MENTAL RETARDATION
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 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIT were set to HUMAN PIEBALDISM 172800
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 KIF7 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION for gene: KIF7
Publications for gene KIF7 were changed from to 21937992
DDG2P v0.1 KIF7 Rebecca Foulger gene: KIF7 was added
gene: KIF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to ACROCALLOSAL SYNDROME 200990
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 KIF4A Rebecca Foulger gene: KIF4A was added
gene: KIF4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 24812067
Phenotypes for gene: KIF4A were set to INTELLECTUAL DISABILITY
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 KIF1BP Rebecca Foulger gene: KIF1BP was added
gene: KIF1BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1BP were set to 15883926
Phenotypes for gene: KIF1BP were set to GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460
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 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIDINS220 were set to 27005418
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity.
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 KIAA0586 Rebecca Foulger gene: KIAA0586 was added
gene: KIAA0586 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to 26026149; 26437029
Phenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME 614615
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 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KDM5C were set to 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473
Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534
DDG2P v0.1 KDM5B Rebecca Foulger gene: KDM5B was added
gene: KDM5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM5B were set to 24307393; 28720891
Phenotypes for gene: KDM5B were set to Autism
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 KCTD7 Rebecca Foulger Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 for gene: KCTD7
Publications for gene KCTD7 were changed from to 17455289; 22693283; 22748208
DDG2P v0.1 KCTD7 Rebecca Foulger gene: KCTD7 was added
gene: KCTD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS
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 Added phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 for gene: KCNT1
Publications for gene KCNT1 were changed from 23086397 to 23086397; 23086396
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 KCNQ2 Rebecca Foulger gene: KCNQ2 was added
gene: KCNQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNQ2 were set to 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247
Phenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1 121200
DDG2P v0.1 KCNQ1 Rebecca Foulger gene: KCNQ1 was added
gene: KCNQ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400
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 Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 for gene: KCNJ11
DDG2P v0.1 KCNJ11 Rebecca Foulger Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 for gene: KCNJ11
Publications for gene KCNJ11 were changed from 9356020 to 8923010
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 KCNJ10 Rebecca Foulger gene: KCNJ10 was added
gene: KCNJ10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KCNJ10 were set to 20651251; 19289823; 19420365; 21849804
Phenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780
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 Added phenotypes LONG QT SYNDROME-5 613695 for gene: KCNE1
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 KAT6B Rebecca Foulger Added phenotypes GENITOPATELLAR SYNDROME 606170 for gene: KAT6B
Publications for gene KAT6B were changed from to 12210330; 12949978; 16761293; 12210329; 22265014
DDG2P v0.1 KAT6B Rebecca Foulger gene: KAT6B was added
gene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE
DDG2P v0.1 KAT6A Rebecca Foulger gene: KAT6A was added
gene: KAT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT6A were set to 25728775; 30245513
Phenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268
DDG2P v0.1 KARS Rebecca Foulger Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 613916 for gene: KARS
Publications for gene KARS were changed from 20920668 to 23768514
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 KANSL1 Rebecca Foulger gene: KANSL1 was added
gene: KANSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KANSL1 were set to 22544367; 22544363
Phenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443
DDG2P v0.1 KANK1 Rebecca Foulger gene: KANK1 was added
gene: KANK1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: KANK1 was set to
Publications for gene: KANK1 were set to 16301218
Phenotypes for gene: KANK1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900
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 JAK3 Rebecca Foulger gene: JAK3 was added
gene: JAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAK3 were set to 10982185; 7659163; 11741532; 7481768
Phenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802
DDG2P v0.1 JAGN1 Rebecca Foulger gene: JAGN1 was added
gene: JAGN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAGN1 were set to 25129144
Phenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA
DDG2P v0.1 JAG1 Rebecca Foulger gene: JAG1 was added
gene: JAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JAG1 were set to ALAGILLE SYNDROME 279357
DDG2P v0.1 IVD Rebecca Foulger gene: IVD was added
gene: IVD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 2063866; 15486829; 10677295; 1310317
Phenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA 243500
DDG2P v0.1 ITPR1 Rebecca Foulger Added phenotypes Gillespie Syndrome for gene: ITPR1
DDG2P v0.1 ITPR1 Rebecca Foulger Added phenotypes Gillespie Syndrome for gene: ITPR1
Publications for gene ITPR1 were changed from 22986007; 27062503 to 27108798; 27108797
DDG2P v0.1 ITPR1 Rebecca Foulger Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 for gene: ITPR1
Publications for gene ITPR1 were changed from 17932120 to 22986007; 27062503
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 ITGA8 Rebecca Foulger gene: ITGA8 was added
gene: ITGA8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1 191830
DDG2P v0.1 ITGA7 Rebecca Foulger gene: ITGA7 was added
gene: ITGA7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA7 were set to 9590299
Phenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY 607855
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 ITGA3 Rebecca Foulger gene: ITGA3 was added
gene: ITGA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA3 were set to 22512483
Phenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748
DDG2P v0.1 ITCH Rebecca Foulger gene: ITCH was added
gene: ITCH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITCH were set to 20170897
Phenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385
DDG2P v0.1 ISPD Rebecca Foulger gene: ISPD was added
gene: ISPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISPD were set to 23217329; 22522420; 22522421; 7604843; 9492098
Phenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME 614643
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 IRF6 Rebecca Foulger Added phenotypes POPLITEAL PTERYGIUM SYNDROME 119500 for gene: IRF6
Publications for gene IRF6 were changed from 12219090; 18478600; 14618417; 14757865; 12920575; 19842205 to 12219090; 20803643
DDG2P v0.1 IRF6 Rebecca Foulger gene: IRF6 was added
gene: IRF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRF6 were set to 12219090; 18478600; 14618417; 14757865; 12920575; 19842205
Phenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME 119300
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 INPPL1 Rebecca Foulger gene: INPPL1 was added
gene: INPPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPPL1 were set to 23273569
Phenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA 258480
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 INPP5E Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 1 213300 for gene: INPP5E
Publications for gene INPP5E were changed from 19668215 to 19668216
DDG2P v0.1 INPP5E Rebecca Foulger gene: INPP5E was added
gene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 19668215
Phenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156
DDG2P v0.1 INPP4A Rebecca Foulger gene: INPP4A was added
gene: INPP4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP4A were set to 21937992
Phenotypes for gene: INPP4A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 IL1RAPL1 Rebecca Foulger gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350
Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143
DDG2P v0.1 IL11RA Rebecca Foulger Added phenotypes Autosomal Recessive Craniosynostosis for gene: IL11RA
DDG2P v0.1 IL11RA Rebecca Foulger gene: IL11RA was added
gene: IL11RA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL11RA were set to 24498618
Phenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis
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 SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636 for gene: IKBKG
Publications for gene IKBKG were changed from 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109 to 16818673
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 Added phenotypes INCONTINENTIA PIGMENTI 308300 for gene: IKBKG
Publications for gene IKBKG were changed from 15356572; 15577852 to 10839543; 9450877
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 Added phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 for gene: IHH
Publications for gene IHH were changed from 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 to 12632327
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 IGF2 Rebecca Foulger gene: IGF2 was added
gene: IGF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: IGF2 were set to 26154720
Phenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860
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 IFT172 Rebecca Foulger Added phenotypes JEUNE SYNDROME for gene: IFT172
DDG2P v0.1 IFT172 Rebecca Foulger gene: IFT172 was added
gene: IFT172 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT172 were set to 24140113
Phenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME 266920
DDG2P v0.1 IFT140 Rebecca Foulger gene: IFT140 was added
gene: IFT140 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT140 were set to 22503633
Phenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME 266920
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 Added phenotypes SINGLETON-MERTEN SYNDROME 182250 for gene: IFIH1
Publications for gene IFIH1 were changed from 24995871 to 25620204
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 IDUA Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 for gene: IDUA
Publications for gene IDUA were changed from 10735634; 10466419; 8664897; 7550232; 9391892 to 8328452; 6821579; 7951228; 8664897; 10735634
DDG2P v0.1 IDUA Rebecca Foulger Added phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 for gene: IDUA
Publications for gene IDUA were changed from 7550232; 4221470 to 10735634; 10466419; 8664897; 7550232; 9391892
DDG2P v0.1 IDUA Rebecca Foulger gene: IDUA was added
gene: IDUA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 7550232; 4221470
Phenotypes for gene: IDUA were set to MUCOPOLYSACCHARIDOSIS TYPE 1S 607016
DDG2P v0.1 IDS Rebecca Foulger gene: IDS was added
gene: IDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDS were set to 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592
Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2 309900
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 HYDIN Rebecca Foulger gene: HYDIN was added
gene: HYDIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYDIN were set to 14985390; 23022101
Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 608647
DDG2P v0.1 HYAL1 Rebecca Foulger gene: HYAL1 was added
gene: HYAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL1 were set to 8793927
Phenotypes for gene: HYAL1 were set to MUCOPOLYSACCHARIDOSIS TYPE 9 601492
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 HSPG2 Rebecca Foulger Added phenotypes DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410 for gene: HSPG2
Publications for gene HSPG2 were changed from 11101850; 11941538 to 11279527
DDG2P v0.1 HSPG2 Rebecca Foulger gene: HSPG2 was added
gene: HSPG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPG2 were set to 11101850; 11941538
Phenotypes for gene: HSPG2 were set to SCHWARTZ-JAMPEL SYNDROME 255800
DDG2P v0.1 HSPD1 Rebecca Foulger gene: HSPD1 was added
gene: HSPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233
DDG2P v0.1 HSF4 Rebecca Foulger Added phenotypes CATARACT ZONULAR HSF4-RELATED 116800 for gene: HSF4
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 HSD17B4 Rebecca Foulger Added phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515 for gene: HSD17B4
Publications for gene HSD17B4 were changed from 4061497 to 9482850; 9345094; 11992265; 11743515; 10400999; 2921319
DDG2P v0.1 HSD17B4 Rebecca Foulger gene: HSD17B4 was added
gene: HSD17B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD17B4 were set to 4061497
Phenotypes for gene: HSD17B4 were set to PERRAULT SYNDROME
DDG2P v0.1 HSD17B10 Rebecca Foulger Added phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220 for gene: HSD17B10
Publications for gene HSD17B10 were changed from 16148061; 12555940; 12696021 to 10521307
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 HR Rebecca Foulger gene: HR was added
gene: HR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HR were set to 19897589; 10777357; 17680008
Phenotypes for gene: HR were set to ALOPECIA UNIVERSALIS 146550
DDG2P v0.1 HPSE2 Rebecca Foulger gene: HPSE2 was added
gene: HPSE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 11446407; 19669792; 20560210; 19839856
Phenotypes for gene: HPSE2 were set to UROFACIAL SYNDROME 236730
DDG2P v0.1 HPS1 Rebecca Foulger gene: HPS1 was added
gene: HPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPS1 were set to 9705234; 8896559; 10971344; 8274781; 9497254
Phenotypes for gene: HPS1 were set to HERMANSKY-PUDLAK SYNDROME 203300
DDG2P v0.1 HPRT1 Rebecca Foulger Added phenotypes LESCH-NYHAN SYNDROME 300322 for gene: HPRT1
DDG2P v0.1 HPRT1 Rebecca Foulger gene: HPRT1 was added
gene: HPRT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED 300323
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 Added phenotypes TYROSINEMIA TYPE 3 276710 for gene: HPD
Publications for gene HPD were changed from to 10942115
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 Added phenotypes BRACHYDACTYLY TYPE D 113200 for gene: HOXD13
Publications for gene HOXD13 were changed from 17236141 to 12649808
DDG2P v0.1 HOXD13 Rebecca Foulger Added phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713 for gene: HOXD13
DDG2P v0.1 HOXD13 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE E 113300 for gene: HOXD13
DDG2P v0.1 HOXD13 Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 5 186300 for gene: HOXD13
Publications for gene HOXD13 were changed from 19060004; 9758628; 12900906; 8817328; 12414828 to 17236141
DDG2P v0.1 HOXD13 Rebecca Foulger Added phenotypes SYNPOLYDACTYLY 1 186000 for gene: HOXD13
Publications for gene HOXD13 were changed from 19006232 to 19060004; 9758628; 12900906; 8817328; 12414828
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 HOXC13 Rebecca Foulger gene: HOXC13 was added
gene: HOXC13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXC13 were set to 23315978; 23063621
Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931
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 HOXA13 Rebecca Foulger gene: HOXA13 was added
gene: HOXA13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HOXA13 were set to 10839976
Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME 140000
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 HOXA1 Rebecca Foulger gene: HOXA1 was added
gene: HOXA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HOXA1 were set to 18412118; 16155570
Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME 601536
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 HNF1B Rebecca Foulger gene: HNF1B was added
gene: HNF1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNF1B were set to 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075
Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME 137920
DDG2P v0.1 HMX1 Rebecca Foulger gene: HMX1 was added
gene: HMX1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMX1 were set to 18423520
Phenotypes for gene: HMX1 were set to OCULOAURICULAR SYNDROME 612109
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 HIST1H4B Rebecca Foulger gene: HIST1H4B was added
gene: HIST1H4B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: HIST1H4B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIST1H4B were set to 21937992
Phenotypes for gene: HIST1H4B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 HIBCH Rebecca Foulger gene: HIBCH was added
gene: HIBCH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 7122152
Phenotypes for gene: HIBCH were set to HIBCH DEFICIENCY 250620
DDG2P v0.1 HGSNAT Rebecca Foulger gene: HGSNAT was added
gene: HGSNAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGSNAT were set to 18024218; 18518886; 16960811; 20825431; 17033958
Phenotypes for gene: HGSNAT were set to MUCOPOLYSACCHARIDOSIS TYPE 3C 252930
DDG2P v0.1 HEXB Rebecca Foulger gene: HEXB was added
gene: HEXB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXB were set to 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140
Phenotypes for gene: HEXB were set to GM2-GANGLIOSIDOSIS TYPE 2 268800
DDG2P v0.1 HEXA Rebecca Foulger gene: HEXA was added
gene: HEXA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEXA were set to 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625
Phenotypes for gene: HEXA were set to GM2-GANGLIOSIDOSIS TYPE 1 272800
DDG2P v0.1 HESX1 Rebecca Foulger Added phenotypes HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 for gene: HESX1
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 Added phenotypes WILSON-TURNER SYNDROME 309585 for gene: HDAC8
DDG2P v0.1 HDAC8 Rebecca Foulger Added phenotypes CORNELIA DE LANGE-LIKE SYNDROME for gene: HDAC8
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 HDAC4 Rebecca Foulger gene: HDAC4 was added
gene: HDAC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HDAC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC4 were set to 20691407
Phenotypes for gene: HDAC4 were set to BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430
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 HCFC1 Rebecca Foulger Added phenotypes COBALAMIN DISORDER for gene: HCFC1
Publications for gene HCFC1 were changed from 1870093; 23000143 to 24011988
DDG2P v0.1 HCFC1 Rebecca Foulger gene: HCFC1 was added
gene: HCFC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to 1870093; 23000143
Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3 309541
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 HAX1 Rebecca Foulger gene: HAX1 was added
gene: HAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAX1 were set to 18337561; 19036076; 18611981; 17187068
Phenotypes for gene: HAX1 were set to NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738
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 HADHA Rebecca Foulger gene: HADHA was added
gene: HADHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 7811722
Phenotypes for gene: HADHA were set to LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016
DDG2P v0.1 HADH Rebecca Foulger gene: HADH was added
gene: HADH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530
DDG2P v0.1 HACE1 Rebecca Foulger gene: HACE1 was added
gene: HACE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to HACE1 related disorder
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 GZF1 Rebecca Foulger gene: GZF1 was added
gene: GZF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GZF1 were set to 28475863
Phenotypes for gene: GZF1 were set to LARSEN SYNDROME
DDG2P v0.1 GUSB Rebecca Foulger gene: GUSB was added
gene: GUSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUSB were set to 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197
Phenotypes for gene: GUSB were set to MUCOPOLYSACCHARIDOSIS TYPE 7 253220
DDG2P v0.1 GUCY2C Rebecca Foulger Added phenotypes FAMILIAL DIARRHEA DIARRHEA 6 614616 for gene: GUCY2C
Publications for gene GUCY2C were changed from to 22436048
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 GSPT2 Rebecca Foulger gene: GSPT2 was added
gene: GSPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY
DDG2P v0.1 GRM6 Rebecca Foulger gene: GRM6 was added
gene: GRM6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM6 were set to 15781871; 16249515; 17405131
Phenotypes for gene: GRM6 were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270
DDG2P v0.1 GRM1 Rebecca Foulger gene: GRM1 was added
gene: GRM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM1 were set to 22901947
Phenotypes for gene: GRM1 were set to CONGENITAL CEREBELLAR ATAXIA 614831
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 GRIN2B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 for gene: GRIN2B
Publications for gene GRIN2B were changed from 23160955 to 20890276; 23160955; 23033978
DDG2P v0.1 GRIN2B Rebecca Foulger gene: GRIN2B was added
gene: GRIN2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIN2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIN2B were set to 23160955
Phenotypes for gene: GRIN2B were set to AUTISM 209850
DDG2P v0.1 GRIN2A Rebecca Foulger Added phenotypes LANDAU-KLEFFNER SYNDROME 245570 for gene: GRIN2A
Publications for gene GRIN2A were changed from 20890276; 23033978 to 23933818
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 GRIK2 Rebecca Foulger gene: GRIK2 was added
gene: GRIK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIK2 were set to 17847003
Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092
DDG2P v0.1 GRIA3 Rebecca Foulger gene: GRIA3 was added
gene: GRIA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GRIA3 were set to 17989220
Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94 300699
DDG2P v0.1 GRHL3 Rebecca Foulger gene: GRHL3 was added
gene: GRHL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRHL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRHL3 were set to 24360809
Phenotypes for gene: GRHL3 were set to VAN DER WOUDE SYNDROME 119300
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 GPX4 Rebecca Foulger gene: GPX4 was added
gene: GPX4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to 24706940
Phenotypes for gene: GPX4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220
DDG2P v0.1 GPSM2 Rebecca Foulger gene: GPSM2 was added
gene: GPSM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPSM2 were set to 22578326
Phenotypes for gene: GPSM2 were set to CHUDLEY-MCCULLOUGH SYNDROME
DDG2P v0.1 GPC6 Rebecca Foulger gene: GPC6 was added
gene: GPC6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPC6 were set to 19481194
Phenotypes for gene: GPC6 were set to OMODYSPLASIA TYPE 1 (OMOD1) [ 258315
DDG2P v0.1 GPC3 Rebecca Foulger gene: GPC3 was added
gene: GPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC3 were set to 16158429; 10814714; 18203194; 8589713; 9950367; 17850639
Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870
DDG2P v0.1 GPAA1 Rebecca Foulger gene: GPAA1 was added
gene: GPAA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095
Phenotypes for gene: GPAA1 were set to Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
DDG2P v0.1 GORAB Rebecca Foulger gene: GORAB was added
gene: GORAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GORAB were set to 18997784
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum
DDG2P v0.1 GON4L Rebecca Foulger gene: GON4L was added
gene: GON4L was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 21937992
Phenotypes for gene: GON4L were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 GNS Rebecca Foulger gene: GNS was added
gene: GNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNS were set to 6450420; 17998446; 19650410; 3100754; 12624138
Phenotypes for gene: GNS were set to MUCOPOLYSACCHARIDOSIS TYPE 3D 252940
DDG2P v0.1 GNPTG Rebecca Foulger gene: GNPTG was added
gene: GNPTG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTG were set to 20034096; 19659762; 10712439; 19370764
Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605
DDG2P v0.1 GNPTAB Rebecca Foulger Added phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 for gene: GNPTAB
Publications for gene GNPTAB were changed from 16200072; 16465621; 16116615 to 16094673; 15633164; 16116615; 19197337
DDG2P v0.1 GNPTAB Rebecca Foulger gene: GNPTAB was added
gene: GNPTAB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 16200072; 16465621; 16116615
Phenotypes for gene: GNPTAB were set to MUCOLIPIDOSIS TYPE II 252500
DDG2P v0.1 GNPAT Rebecca Foulger gene: GNPAT was added
gene: GNPAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPAT were set to 21990100; 9843043; 9536089; 1405476
Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
DDG2P v0.1 GNB5 Rebecca Foulger gene: GNB5 was added
gene: GNB5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB5 were set to 27523599
Phenotypes for gene: GNB5 were set to Sinus Bradycardia and Cognitive Disability
DDG2P v0.1 GNB3 Rebecca Foulger gene: GNB3 was added
gene: GNB3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GNB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNB3 were set to 27063057
Phenotypes for gene: GNB3 were set to GNB3 Autosomal-Recessive Congenital Stationary Night Blindness.
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 GNAS HYPERFUNCTION 139320 for gene: GNAS
DDG2P v0.1 GNAS Rebecca Foulger Added phenotypes ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 for gene: GNAS
Publications for gene GNAS were changed from 11029463; 15592469; 18182455 to 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353
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 GNAI1 Rebecca Foulger gene: GNAI1 was added
gene: GNAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GNAI1 were set to GNAI1 syndrome
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 GMPPA Rebecca Foulger gene: GMPPA was added
gene: GMPPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GMPPA were set to 24035193
Phenotypes for gene: GMPPA were set to GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION
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 GM2A Rebecca Foulger gene: GM2A was added
gene: GM2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GM2A were set to 8900233; 8244332; 10364519; 1915858
Phenotypes for gene: GM2A were set to GM2-GANGLIOSIDOSIS TYPE AB 272750
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 GLMN Rebecca Foulger gene: GLMN was added
gene: GLMN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLMN were set to 11175297; 11845407
Phenotypes for gene: GLMN were set to GLOMUVENOUS MALFORMATIONS 138000
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 GLI3 Rebecca Foulger Added phenotypes PALLISTER-HALL SYNDROME 146510 for gene: GLI3
Publications for gene GLI3 were changed from to 10945658; 9054938; 10441570
DDG2P v0.1 GLI3 Rebecca Foulger Added phenotypes POSTAXIAL POLYDACTYLY TYPE A 149847 for gene: GLI3
DDG2P v0.1 GLI3 Rebecca Foulger Added phenotypes PREAXIAL POLYDACTYLY TYPE IV 269157 for gene: GLI3
DDG2P v0.1 GLI3 Rebecca Foulger gene: GLI3 was added
gene: GLI3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700
DDG2P v0.1 GLI2 Rebecca Foulger gene: GLI2 was added
gene: GLI2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY 261768
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 GLB1 Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 3 230650 for gene: GLB1
Publications for gene GLB1 were changed from 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816 to 1907800; 1909089; 8198123
DDG2P v0.1 GLB1 Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500 for gene: GLB1
Publications for gene GLB1 were changed from 1909089; 12644936 to 1907800; 10737981; 1909089; 8199591; 10841810; 1928092; 1606711; 8213816
DDG2P v0.1 GLB1 Rebecca Foulger Added phenotypes GM1-GANGLIOSIDOSIS TYPE 2 230600 for gene: GLB1
Publications for gene GLB1 were changed from 1928092; 11511921; 7586649; 10841810 to 1909089; 12644936
DDG2P v0.1 GLB1 Rebecca Foulger gene: GLB1 was added
gene: GLB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLB1 were set to 1928092; 11511921; 7586649; 10841810
Phenotypes for gene: GLB1 were set to MUCOPOLYSACCHARIDOSIS TYPE 4B 253010
DDG2P v0.1 GK Rebecca Foulger gene: GK was added
gene: GK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY 307030
DDG2P v0.1 GJC2 Rebecca Foulger Added phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 2 608804 for gene: GJC2
Publications for gene GJC2 were changed from 19056803 to 16969684; 15192806; 8733901; 18094336
DDG2P v0.1 GJC2 Rebecca Foulger Added phenotypes SPASTIC PARAPLEGIA, 44 613206 for gene: GJC2
Publications for gene GJC2 were changed from 20537300 to 19056803
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 Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE for gene: GJB3
DDG2P v0.1 GJB3 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644 for gene: GJB3
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 BART-PUMPHREY SYNDROME 149200 for gene: GJB2
Publications for gene GJB2 were changed from 12372058; 10633135; 17993581; 2956987 to 15952212; 15482471
DDG2P v0.1 GJB2 Rebecca Foulger Added phenotypes VOHWINKEL SYNDROME 124500 for gene: GJB2
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 Added phenotypes CATARACT-MICROCORNEA SYNDROME 116150 for gene: GJA8
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 Added phenotypes AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200 for gene: GJA1
Publications for gene GJA1 were changed from 16816024; 12457340 to 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345
DDG2P v0.1 GJA1 Rebecca Foulger Added phenotypes AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850 for gene: GJA1
Publications for gene GJA1 were changed from 2157843 to 16816024; 12457340
DDG2P v0.1 GJA1 Rebecca Foulger Added phenotypes SYNDACTYLY TYPE 3 186100 for gene: GJA1
Publications for gene GJA1 were changed from 11470490 to 2157843
DDG2P v0.1 GJA1 Rebecca Foulger Added phenotypes HYPOPLASTIC LEFT HEART SYNDROME 241550 for gene: GJA1
Publications for gene GJA1 were changed from 14981729 to 11470490
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 GHR Rebecca Foulger gene: GHR was added
gene: GHR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GHR were set to 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570
Phenotypes for gene: GHR were set to PITUITARY DWARFISM II 262500
DDG2P v0.1 GFM1 Rebecca Foulger gene: GFM1 was added
gene: GFM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM1 were set to 17160893
Phenotypes for gene: GFM1 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060
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 GDI1 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 48 300104 for gene: GDI1
DDG2P v0.1 GDI1 Rebecca Foulger gene: GDI1 was added
gene: GDI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41 300104
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 BRACHYDACTYLY TYPE A2 112600 for gene: GDF5
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 Added phenotypes SYMPHALANGISM PROXIMAL SYNDROME 185800 for gene: GDF5
Publications for gene GDF5 were changed from 12121354; 16222676; 18629880 to 16127465; 10080184; 11857750; 11846737; 16892395; 18283415
DDG2P v0.1 GDF5 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE A1 112500 for gene: GDF5
DDG2P v0.1 GDF5 Rebecca Foulger Added phenotypes MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 for gene: GDF5
DDG2P v0.1 GDF5 Rebecca Foulger Added phenotypes DU PAN SYNDROME 228900 for gene: GDF5
Publications for gene GDF5 were changed from 12900894; 9288098; 12124730 to 12121354; 16222676; 18629880
DDG2P v0.1 GDF5 Rebecca Foulger Added phenotypes BRACHYDACTYLY TYPE C 113100 for gene: GDF5
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 Added phenotypes KLIPPEL-FEIL SYNDROME TYPE 3 613702 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 CONOTRUNCAL HEART MALFORMATIONS 217095 for gene: GDF1
DDG2P v0.1 GDF1 Rebecca Foulger Added phenotypes TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 for gene: GDF1
DDG2P v0.1 GDF1 Rebecca Foulger gene: GDF1 was added
gene: GDF1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GDF1 were set to TETRALOGY OF FALLOT 187500
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 Added phenotypes DYSTONIA TYPE 5 128230 for gene: GCH1
Publications for gene GCH1 were changed from 7730309; 12552057; 10987649; 9667588 to 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165
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 230800 for gene: GBA
DDG2P v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3 231000 for gene: GBA
DDG2P v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE PERINATAL LETHAL 608013 for gene: GBA
DDG2P v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 2 230900 for gene: GBA
DDG2P v0.1 GBA Rebecca Foulger Added phenotypes GAUCHER DISEASE TYPE 3C 231005 for gene: GBA
DDG2P v0.1 GBA Rebecca Foulger gene: GBA was added
gene: GBA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to GAUCHER DISEASE TYPE 1 230800
DDG2P v0.1 GATM Rebecca Foulger gene: GATM was added
gene: GATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to 10762163
Phenotypes for gene: GATM were set to ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
DDG2P v0.1 GATAD2B Rebecca Foulger gene: GATAD2B was added
gene: GATAD2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATAD2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATAD2B were set to 23644463
Phenotypes for gene: GATAD2B were set to NONSPECIFIC SEVERE ID
DDG2P v0.1 GATA6 Rebecca Foulger Added phenotypes ATRIAL SEPTAL DEFECT 9 614475 for gene: GATA6
Publications for gene GATA6 were changed from 22158542; 8071961 to 20631719
DDG2P v0.1 GATA6 Rebecca Foulger Added phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 for gene: GATA6
Publications for gene GATA6 were changed from 20581743 to 22158542; 8071961
DDG2P v0.1 GATA6 Rebecca Foulger gene: GATA6 was added
gene: GATA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 20581743
Phenotypes for gene: GATA6 were set to ATRIOVENTRICULAR SEPTAL DEFECT 5 614474
DDG2P v0.1 GATA4 Rebecca Foulger gene: GATA4 was added
gene: GATA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA4 were set to 17643447; 20659440; 12845333; 15810002; 20347099; 18055909
Phenotypes for gene: GATA4 were set to ATRIAL SEPTAL DEFECT TYPE 2 607941
DDG2P v0.1 GATA2 Rebecca Foulger gene: GATA2 was added
gene: GATA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA2 were set to 21892158; 20803646
Phenotypes for gene: GATA2 were set to EMBERGER SYNDROME 614038
DDG2P v0.1 GAS8 Rebecca Foulger gene: GAS8 was added
gene: GAS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS8 were set to 26387594
Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA
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 GALT Rebecca Foulger gene: GALT was added
gene: GALT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALT were set to 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530
Phenotypes for gene: GALT were set to GALACTOSEMIA 230400
DDG2P v0.1 GALNS Rebecca Foulger gene: GALNS was added
gene: GALNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to MUCOPOLYSACCHARIDOSIS TYPE 4A 253000
DDG2P v0.1 GALK1 Rebecca Foulger gene: GALK1 was added
gene: GALK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALK1 were set to 10790206; 7670469; 11231902; 10521295
Phenotypes for gene: GALK1 were set to GALACTOSEMIA II 230200
DDG2P v0.1 GALE Rebecca Foulger gene: GALE was added
gene: GALE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 9538513; 9326324; 9973283
Phenotypes for gene: GALE were set to EPIMERASE-DEFICIENCY GALACTOSEMIA 230350
DDG2P v0.1 GALC Rebecca Foulger gene: GALC was added
gene: GALC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 21070211; 8786069; 20886637; 8297359
Phenotypes for gene: GALC were set to KRABBE DISEASE 245200
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 GABRA1 Rebecca Foulger gene: GABRA1 was added
gene: GABRA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRA1 were set to 11992121
Phenotypes for gene: GABRA1 were set to JUVENILE MYOCLONIC EPILEPSY 611136
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 GAA Rebecca Foulger gene: GAA was added
gene: GAA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAA were set to 1652892; 8834250; 7881425; 17616415; 15668445; 9529346; 7945303; 1898413; 7881422; 3865697
Phenotypes for gene: GAA were set to GLYCOGEN STORAGE DISEASE TYPE II 232300
DDG2P v0.1 FZD6 Rebecca Foulger gene: FZD6 was added
gene: FZD6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FZD6 were set to 21665003
Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157
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 FYCO1 Rebecca Foulger gene: FYCO1 was added
gene: FYCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FYCO1 were set to 21636066; 11519376
Phenotypes for gene: FYCO1 were set to CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019
DDG2P v0.1 FUCA1 Rebecca Foulger gene: FUCA1 was added
gene: FUCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUCA1 were set to 1281988; 8401503; 2012122; 9762612; 2642067; 8097260
Phenotypes for gene: FUCA1 were set to FUCOSIDOSIS 230000
DDG2P v0.1 FTSJ1 Rebecca Foulger gene: FTSJ1 was added
gene: FTSJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FTSJ1 were set to 10398246; 8288232; 15162322
Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44 309549
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 FTL Rebecca Foulger gene: FTL was added
gene: FTL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230
Phenotypes for gene: FTL were set to HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886
DDG2P v0.1 FTCD Rebecca Foulger gene: FTCD was added
gene: FTCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 12815595
Phenotypes for gene: FTCD were set to GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100
DDG2P v0.1 FRY Rebecca Foulger gene: FRY was added
gene: FRY was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FRY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRY were set to 21937992
Phenotypes for gene: FRY were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 FRMPD4 Rebecca Foulger gene: FRMPD4 was added
gene: FRMPD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMPD4 were set to 25644381
Phenotypes for gene: FRMPD4 were set to Intellectual Disability
DDG2P v0.1 FRMD7 Rebecca Foulger gene: FRMD7 was added
gene: FRMD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FRMD7 were set to 18087240; 19072571; 21746984; 16240070; 17962394; 17013395
Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED 310700
DDG2P v0.1 FREM2 Rebecca Foulger gene: FREM2 was added
gene: FREM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to FRASER SYNDROME 219000
DDG2P v0.1 FREM1 Rebecca Foulger gene: FREM1 was added
gene: FREM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to 17352387; 11332973
Phenotypes for gene: FREM1 were set to MANITOBA OCULOTRICHOANAL SYNDROME 248450
DDG2P v0.1 FRAS1 Rebecca Foulger gene: FRAS1 was added
gene: FRAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRAS1 were set to 12766769; 15838507; 17163535; 18203166; 16894541; 18671281
Phenotypes for gene: FRAS1 were set to FRASER SYNDROME 219000
DDG2P v0.1 FOXRED1 Rebecca Foulger gene: FOXRED1 was added
gene: FOXRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXRED1 were set to 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893
Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010
DDG2P v0.1 FOXP3 Rebecca Foulger gene: FOXP3 was added
gene: FOXP3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FOXP3 were set to 11137993; 17635943; 11120765; 11137992; 14671208
Phenotypes for gene: FOXP3 were set to IPEX SYNDROME 304790
DDG2P v0.1 FOXP2 Rebecca Foulger gene: FOXP2 was added
gene: FOXP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP2 were set to 2332125; 15877281
Phenotypes for gene: FOXP2 were set to SPEECH-LANGUAGE DISORDER 1 602081
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 FOXN1 Rebecca Foulger gene: FOXN1 was added
gene: FOXN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXN1 were set to 8911612
Phenotypes for gene: FOXN1 were set to ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705
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 FOXG1 Rebecca Foulger gene: FOXG1 was added
gene: FOXG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXG1 were set to 19578037; 21441262; 19564653; 18571142
Phenotypes for gene: FOXG1 were set to CONGENITAL VARIANT OF RETT SYNDROME 613454
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 Added phenotypes ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 for gene: FOXE3
Publications for gene FOXE3 were changed from 11159941 to 6801987; 11159941; 3550563
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 FOXC2 Rebecca Foulger Added phenotypes HEREDITARY LYMPHEDEMA II 241432 for gene: FOXC2
DDG2P v0.1 FOXC2 Rebecca Foulger gene: FOXC2 was added
gene: FOXC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXC2 were set to 12485195; 11499682; 14269895; 10417285; 11371511; 15523639; 12114478; 11078474
Phenotypes for gene: FOXC2 were set to LYMPHEDEMA-DISTICHIASIS SYNDROME 153400
DDG2P v0.1 FOXC1 Rebecca Foulger Added phenotypes IRIDOGONIODYSGENESIS ANOMALY 601631 for gene: FOXC1
Publications for gene FOXC1 were changed from 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342 to 11007653; 19793056
DDG2P v0.1 FOXC1 Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: FOXC1
DDG2P v0.1 FOXC1 Rebecca Foulger gene: FOXC1 was added
gene: FOXC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXC1 were set to 11170889; 10713890; 18498376; 9792859; 17210863; 9620769; 9326342
Phenotypes for gene: FOXC1 were set to AXENFELD-RIEGER SYNDROME TYPE 3 602482
DDG2P v0.1 FOLR1 Rebecca Foulger gene: FOLR1 was added
gene: FOLR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOLR1 were set to 21937992; 19732866
Phenotypes for gene: FOLR1 were set to NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068
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 Added phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360 for gene: FMR1
DDG2P v0.1 FMR1 Rebecca Foulger Added phenotypes FRAGILE X SYNDROME 300624 for gene: FMR1
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 FMN2 Rebecca Foulger gene: FMN2 was added
gene: FMN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FMN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMN2 were set to 25480035
Phenotypes for gene: FMN2 were set to NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY
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 Added phenotypes ATELOSTEOGENESIS TYPE 1 108720 for gene: FLNB
DDG2P v0.1 FLNB Rebecca Foulger Added phenotypes ATELOSTEOGENESIS TYPE 3 108721 for gene: FLNB
Publications for gene FLNB were changed from 14991055; 16801345 to 14991055
DDG2P v0.1 FLNB Rebecca Foulger Added phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 for gene: FLNB
Publications for gene FLNB were changed from 18257094; 14991055; 18386804 to 14991055; 16801345
DDG2P v0.1 FLNB Rebecca Foulger Added phenotypes BOOMERANG DYSPLASIA 112310 for gene: FLNB
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 Childhood Interstitial Lung Disease for gene: FLNA
Publications for gene FLNA were changed from 17632775 to 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809
DDG2P v0.1 FLNA Rebecca Foulger Added phenotypes FG SYNDROME TYPE 2 300321 for gene: FLNA
Publications for gene FLNA were changed from 12612583 to 17632775
DDG2P v0.1 FLNA Rebecca Foulger Added phenotypes FRONTOMETAPHYSEAL DYSPLASIA 305620 for gene: FLNA
Publications for gene FLNA were changed from 12612583; 17431908 to 12612583
DDG2P v0.1 FLNA Rebecca Foulger Added phenotypes OTOPALATODIGITAL SYNDROME TYPE 2 304120 for gene: FLNA
Publications for gene FLNA were changed from 23037936; 8644737 to 12612583; 17431908
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 MELNICK-NEEDLES SYNDROME 309350 for gene: FLNA
Publications for gene FLNA were changed from 10982965 to 12612583
DDG2P v0.1 FLNA Rebecca Foulger Added phenotypes TERMINAL OSSEOUS DYSPLASIA 300244 for gene: FLNA
Publications for gene FLNA were changed from 23934111 to 10982965
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 FLAD1 Rebecca Foulger gene: FLAD1 was added
gene: FLAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLAD1 were set to 27259049
Phenotypes for gene: FLAD1 were set to Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
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 FHL1 Rebecca Foulger gene: FHL1 was added
gene: FHL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FHL1 were set to 19716112; 18179888; 19687455
Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696
DDG2P v0.1 FH Rebecca Foulger gene: FH was added
gene: FH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to FUMARASE DEFICIENCY 606812
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 HYPOCHONDROPLASIA 146000 for gene: FGFR3
Publications for gene FGFR3 were changed from 17033969 to 7670477; 16912704; 10215410; 9452043; 11055896; 8589686
DDG2P v0.1 FGFR3 Rebecca Foulger Added phenotypes CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 for gene: FGFR3
Publications for gene FGFR3 were changed from 7773297 to 17033969
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 ACHONDROPLASIA 100800 for gene: FGFR3
Publications for gene FGFR3 were changed from 7493034 to 7758520; 16411219; 8078586; 16912704; 7913883
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 Added phenotypes MUENKE SYNDROME 602849 for gene: FGFR3
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 Added phenotypes ACROCEPHALOSYNDACTYLY TYPE V 101600 for gene: FGFR2
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 for gene: FGFR2
Publications for gene FGFR2 were changed from 7874170 to 19610084; 8696350
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes ANTLEY-BIXLER SYNDROME 207410 for gene: FGFR2
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes JACKSON-WEISS SYNDROME 123150 for gene: FGFR2
Publications for gene FGFR2 were changed from 9002682; 7719344; 9973282 to 7874170
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes FAMILIAL SCAPHOCEPHALY SYNDROME 609579 for gene: FGFR2
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 for gene: FGFR2
DDG2P v0.1 FGFR2 Rebecca Foulger Added phenotypes APERT SYNDROME 101200 for gene: FGFR2
Publications for gene FGFR2 were changed from 17621648; 15523492; 7581378; 9152842; 7874170; 7607643; 8528214; 7987400; 7655462; 9677057; 22038757 to 9002682; 7719344; 9973282
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 Hartsfield syndrome for gene: FGFR1
Publications for gene FGFR1 were changed from 26942290 to 23812909
DDG2P v0.1 FGFR1 Rebecca Foulger Added phenotypes Encephalocraniocutaneous lipomatosis for gene: FGFR1
Publications for gene FGFR1 were changed from 12627230 to 26942290
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 FGFR1 Rebecca Foulger Added phenotypes PFEIFFER SYNDROME 101600 for gene: FGFR1
Publications for gene FGFR1 were changed from 16606836; 17235395; 12627230; 10690855; 16882753; 16418210; 23643382; 18596921; 17360555 to 9586546; 9150725; 11807866; 8434615; 9002682; 10945669; 7874169; 8841188; 7719345; 10394936; 15523615
DDG2P v0.1 FGFR1 Rebecca Foulger Added phenotypes KALLMANN SYNDROME TYPE 2 147950 for gene: FGFR1
Publications for gene FGFR1 were changed from 7422392; 15625620 to 16606836; 17235395; 12627230; 10690855; 16882753; 16418210; 23643382; 18596921; 17360555
DDG2P v0.1 FGFR1 Rebecca Foulger gene: FGFR1 was added
gene: FGFR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGFR1 were set to 7422392; 15625620
Phenotypes for gene: FGFR1 were set to OSTEOGLOPHONIC DYSPLASIA 166250
DDG2P v0.1 FGF9 Rebecca Foulger gene: FGF9 was added
gene: FGF9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FGF9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF9 were set to 19589401
Phenotypes for gene: FGF9 were set to MULTIPLE SYNOSTOSES SYNDROME TYPE 3 612961
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 FGF10 Rebecca Foulger gene: FGF10 was added
gene: FGF10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF10 were set to 16501574; 16630169
Phenotypes for gene: FGF10 were set to LADD SYNDROME 149730
DDG2P v0.1 FGD1 Rebecca Foulger gene: FGD1 was added
gene: FGD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGD1 were set to 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065
Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME 305400
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 FBXO11 Rebecca Foulger gene: FBXO11 was added
gene: FBXO11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 27620904; 30057029
Phenotypes for gene: FBXO11 were set to FBXO11 related intellectual disability
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 FBP1 Rebecca Foulger gene: FBP1 was added
gene: FBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBP1 were set to 12126934; 7763253
Phenotypes for gene: FBP1 were set to FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700
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 Added phenotypes MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 for gene: FBN1
Publications for gene FBN1 were changed from 8136837; 7802039; 22539873 to 8406497
DDG2P v0.1 FBN1 Rebecca Foulger Added phenotypes WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 for gene: FBN1
DDG2P v0.1 FBN1 Rebecca Foulger Added phenotypes ISOLATED ECTOPIA LENTIS 129600 for gene: FBN1
Publications for gene FBN1 were changed from 23103230; 16333834; 8071963; 23023332 to 8136837; 7802039; 22539873
DDG2P v0.1 FBN1 Rebecca Foulger Added phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 for gene: FBN1
Publications for gene FBN1 were changed from 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 to 23103230; 16333834; 8071963; 23023332
DDG2P v0.1 FBN1 Rebecca Foulger Added phenotypes MARFAN SYNDROME 154700 for gene: FBN1
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 FAT4 Rebecca Foulger gene: FAT4 was added
gene: FAT4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT4 were set to 24056717
Phenotypes for gene: FAT4 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
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 FAR1 Rebecca Foulger gene: FAR1 was added
gene: FAR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAR1 were set to SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS
DDG2P v0.1 FANCM Rebecca Foulger Added phenotypes FANCM-RELATED FANCONI ANEMIA 287713 for gene: FANCM
DDG2P v0.1 FANCM Rebecca Foulger gene: FANCM was added
gene: FANCM was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCM were set to FANCONI ANEMIA 229154
DDG2P v0.1 FANCL Rebecca Foulger Added phenotypes FANCONI ANEMIA 229154 for gene: FANCL
DDG2P v0.1 FANCL Rebecca Foulger gene: FANCL was added
gene: FANCL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to FANCL-RELATED FANCONI ANEMIA 234480
DDG2P v0.1 FANCI Rebecca Foulger Added phenotypes FANCONI ANEMIA 229154 for gene: FANCI
DDG2P v0.1 FANCI Rebecca Foulger gene: FANCI was added
gene: FANCI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to FANCI-RELATED FANCONI ANEMIA 234476
DDG2P v0.1 FANCG Rebecca Foulger gene: FANCG was added
gene: FANCG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCG were set to 12552564; 10807541; 15657175; 9806548
Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082
DDG2P v0.1 FANCF Rebecca Foulger gene: FANCF was added
gene: FANCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 10615118; 9382107
Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467
DDG2P v0.1 FANCE Rebecca Foulger gene: FANCE was added
gene: FANCE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCE were set to 10205272; 11001585; 9382107
Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901
DDG2P v0.1 FANCD2 Rebecca Foulger gene: FANCD2 was added
gene: FANCD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCD2 were set to 11239453
Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646
DDG2P v0.1 FANCC Rebecca Foulger gene: FANCC was added
gene: FANCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 20869034; 8348157; 10431244
Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645
DDG2P v0.1 FANCB Rebecca Foulger gene: FANCB was added
gene: FANCB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA 229139
DDG2P v0.1 FANCA Rebecca Foulger gene: FANCA was added
gene: FANCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to 8896564; 10431244; 12447395; 11344308; 12827451; 15523645
Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650
DDG2P v0.1 FAM58A Rebecca Foulger gene: FAM58A was added
gene: FAM58A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM58A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FAM58A were set to 18297069; 8818947
Phenotypes for gene: FAM58A were set to STAR SYNDROME 300707
DDG2P v0.1 FAM20C Rebecca Foulger gene: FAM20C was added
gene: FAM20C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20C were set to 19250384; 20825432; 17924334
Phenotypes for gene: FAM20C were set to RAINE SYNDROME 259775
DDG2P v0.1 FAM20A Rebecca Foulger gene: FAM20A was added
gene: FAM20A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM20A were set to 21549343
Phenotypes for gene: FAM20A were set to AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253
DDG2P v0.1 FAM161A Rebecca Foulger gene: FAM161A was added
gene: FAM161A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM161A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM161A were set to RETINITIS PIGMENTOSA 28 606068
DDG2P v0.1 FAM126A Rebecca Foulger gene: FAM126A was added
gene: FAM126A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM126A were set to 16951682; 17928815
Phenotypes for gene: FAM126A were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
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 FAH Rebecca Foulger gene: FAH was added
gene: FAH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997
Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1 276700
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 EYA1 Rebecca Foulger Added phenotypes OTOFACIOCERVICAL SYNDROME 166780 for gene: EYA1
Publications for gene EYA1 were changed from 5365063; 9361030; 19206155; 10655545; 9020840 to 16441263
DDG2P v0.1 EYA1 Rebecca Foulger gene: EYA1 was added
gene: EYA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EYA1 were set to 5365063; 9361030; 19206155; 10655545; 9020840
Phenotypes for gene: EYA1 were set to BRANCHIOOTORENAL SYNDROME TYPE 1 113650
DDG2P v0.1 EXT2 Rebecca Foulger gene: EXT2 was added
gene: EXT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EXT2 were set to EXOSTOSES, MULTIPLE, TYPE 2 133701
DDG2P v0.1 EXT1 Rebecca Foulger Added phenotypes TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 for gene: EXT1
DDG2P v0.1 EXT1 Rebecca Foulger gene: EXT1 was added
gene: EXT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXT1 were set to 8981950; 9326317; 15253765; 7550340
Phenotypes for gene: EXT1 were set to HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700
DDG2P v0.1 EXPH5 Rebecca Foulger gene: EXPH5 was added
gene: EXPH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXPH5 were set to 23176819
Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY 615028
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 EVC2 Rebecca Foulger Added phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 for gene: EVC2
Publications for gene EVC2 were changed from to 16404586
DDG2P v0.1 EVC2 Rebecca Foulger gene: EVC2 was added
gene: EVC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to ELLIS-VAN CREVELD SYNDROME 225500
DDG2P v0.1 EVC Rebecca Foulger Added phenotypes ELLIS-VAN CREVELD SYNDROME 225500 for gene: EVC
Publications for gene EVC were changed from to 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252
DDG2P v0.1 EVC Rebecca Foulger gene: EVC was added
gene: EVC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530
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 ETFDH Rebecca Foulger gene: ETFDH was added
gene: ETFDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to GLUTARIC ACIDURIA TYPE 2C 231680
DDG2P v0.1 ETFB Rebecca Foulger gene: ETFB was added
gene: ETFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to GLUTARIC ACIDURIA TYPE 2B 231680
DDG2P v0.1 ETFA Rebecca Foulger gene: ETFA was added
gene: ETFA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETFA were set to 7912128; 17412732; 12815589; 19249206; 1430199; 1882842
Phenotypes for gene: ETFA were set to GLUTARIC ACIDURIA TYPE 2A 231680
DDG2P v0.1 ESCO2 Rebecca Foulger Added phenotypes ROBERTS SYNDROME 268300 for gene: ESCO2
Publications for gene ESCO2 were changed from 3740099 to 15821733; 495649
DDG2P v0.1 ESCO2 Rebecca Foulger gene: ESCO2 was added
gene: ESCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESCO2 were set to 3740099
Phenotypes for gene: ESCO2 were set to SC PHOCOMELIA SYNDROME 269000
DDG2P v0.1 ERMARD Rebecca Foulger gene: ERMARD was added
gene: ERMARD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ERMARD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ERMARD were set to 24056535
Phenotypes for gene: ERMARD were set to PERIVENTRICULAR HETEROTOPIA
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 ERF Rebecca Foulger Added phenotypes Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia for gene: ERF
Publications for gene ERF were changed from 23354439 to 27738187
DDG2P v0.1 ERF Rebecca Foulger gene: ERF was added
gene: ERF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ERF were set to 23354439
Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS
DDG2P v0.1 ERCC8 Rebecca Foulger gene: ERCC8 was added
gene: ERCC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC8 were set to 7664335; 14661080; 15744458
Phenotypes for gene: ERCC8 were set to COCKAYNE SYNDROME TYPE A 216400
DDG2P v0.1 ERCC6L2 Rebecca Foulger gene: ERCC6L2 was added
gene: ERCC6L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776
Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 615715
DDG2P v0.1 ERCC6 Rebecca Foulger Added phenotypes UV-SENSITIVE SYNDROME 609413 for gene: ERCC6
Publications for gene ERCC6 were changed from 18628313; 10739753; 20456449 to 7264357
DDG2P v0.1 ERCC6 Rebecca Foulger Added phenotypes CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150 for gene: ERCC6
Publications for gene ERCC6 were changed from 10196384; 9443879; 18446857 to 18628313; 10739753; 20456449
DDG2P v0.1 ERCC6 Rebecca Foulger Added phenotypes COCKAYNE SYNDROME TYPE B 133540 for gene: ERCC6
Publications for gene ERCC6 were changed from to 10196384; 9443879; 18446857
DDG2P v0.1 ERCC6 Rebecca Foulger gene: ERCC6 was added
gene: ERCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME 278800
DDG2P v0.1 ERCC5 Rebecca Foulger gene: ERCC5 was added
gene: ERCC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268
Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780
DDG2P v0.1 ERCC4 Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM, GROUP F 278760 for gene: ERCC4
Publications for gene ERCC4 were changed from 17183314 to 8797827; 3372781
DDG2P v0.1 ERCC4 Rebecca Foulger Added phenotypes XFE PROGEROID SYNDROME 610965 for gene: ERCC4
Publications for gene ERCC4 were changed from 23623386 to 17183314
DDG2P v0.1 ERCC4 Rebecca Foulger Added phenotypes PRIMORDIAL DWARFISM 615272 for gene: ERCC4
DDG2P v0.1 ERCC4 Rebecca Foulger gene: ERCC4 was added
gene: ERCC4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC4 were set to 23623386
Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272
DDG2P v0.1 ERCC3 Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 for gene: ERCC3
DDG2P v0.1 ERCC3 Rebecca Foulger gene: ERCC3 was added
gene: ERCC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 4811796; 16947863; 8408834
Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651
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 ERCC2 Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 for gene: ERCC2
Publications for gene ERCC2 were changed from 11443545 to 9101292; 7849702; 7585650; 11443545; 11709541
DDG2P v0.1 ERCC2 Rebecca Foulger gene: ERCC2 was added
gene: ERCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 11443545
Phenotypes for gene: ERCC2 were set to CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756
DDG2P v0.1 ERCC1 Rebecca Foulger Added phenotypes CEREBROOCULOFACIOSKELETAL SYNDROME 4 298956 for gene: ERCC1
Publications for gene ERCC1 were changed from 23623389 to 17273966
DDG2P v0.1 ERCC1 Rebecca Foulger gene: ERCC1 was added
gene: ERCC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC1 were set to 23623389
Phenotypes for gene: ERCC1 were set to FANCONI ANEMIA 229154
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 EPHB4 Rebecca Foulger gene: EPHB4 was added
gene: EPHB4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EPHB4 were set to 28687708; 29444212
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2
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 EP300 Rebecca Foulger gene: EP300 was added
gene: EP300 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EP300 were set to 17299436; 20014264; 19353645; 15706485
Phenotypes for gene: EP300 were set to RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684
DDG2P v0.1 EOMES Rebecca Foulger gene: EOMES was added
gene: EOMES was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EOMES was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EOMES were set to 17353897
Phenotypes for gene: EOMES were set to POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS
DDG2P v0.1 EOGT Rebecca Foulger gene: EOGT was added
gene: EOGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EOGT were set to 23522784
Phenotypes for gene: EOGT were set to ADAMS OLIVER SYNDROME
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 ENPP1 Rebecca Foulger Added phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 for gene: ENPP1
Publications for gene ENPP1 were changed from 20137773; 20137772 to 19206175; 15940697; 22209248; 11159191; 12881724; 15605415
DDG2P v0.1 ENPP1 Rebecca Foulger gene: ENPP1 was added
gene: ENPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENPP1 were set to 20137773; 20137772
Phenotypes for gene: ENPP1 were set to HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312
DDG2P v0.1 EMX2 Rebecca Foulger gene: EMX2 was added
gene: EMX2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EMX2 were set to FAMILIAL SCHIZENCEPHALY, EMX2-RELATED 269160
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 Added phenotypes Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. for gene: EMC1
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 ELN Rebecca Foulger Added phenotypes SUPRAVALVAR AORTIC STENOSIS 185500 for gene: ELN
Publications for gene ELN were changed from to 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671
DDG2P v0.1 ELN Rebecca Foulger gene: ELN was added
gene: ELN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to ELN-RELATED CUTIS LAXA 314088
DDG2P v0.1 ELMO2 Rebecca Foulger gene: ELMO2 was added
gene: ELMO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELMO2 were set to 27476657
Phenotypes for gene: ELMO2 were set to Intraosseous Vascular Malformation
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 EIF2AK3 Rebecca Foulger gene: EIF2AK3 was added
gene: EIF2AK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2AK3 were set to 16813601; 12960215; 10932183; 7551159
Phenotypes for gene: EIF2AK3 were set to WOLCOTT-RALLISON SYNDROME 226980
DDG2P v0.1 EHMT1 Rebecca Foulger gene: EHMT1 was added
gene: EHMT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EHMT1 were set to 19264732; 16826528
Phenotypes for gene: EHMT1 were set to 9Q SUBTELOMERIC DELETION SYNDROME 610253
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 EFNB1 Rebecca Foulger gene: EFNB1 was added
gene: EFNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFNB1 was set to x-linked over-dominance
Publications for gene: EFNB1 were set to 16685650; 15166289; 15124102
Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME 304110
DDG2P v0.1 EEF1B2 Rebecca Foulger gene: EEF1B2 was added
gene: EEF1B2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: EEF1B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEF1B2 were set to 21937992
Phenotypes for gene: EEF1B2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
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 EDNRB Rebecca Foulger gene: EDNRB was added
gene: EDNRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDNRB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EDNRB were set to 7778600
Phenotypes for gene: EDNRB were set to ABCD SYNDROME 600501
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 Added phenotypes AURICULOCONDYLAR SYNDROME 602483 for gene: EDN1
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 EDA Rebecca Foulger gene: EDA was added
gene: EDA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EDA were set to 8696334; 12949972; 9683615; 19264582; 19921643; 9507389; 9856856; 17066260
Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1 305100
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 EBF3 Rebecca Foulger gene: EBF3 was added
gene: EBF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EBF3 were set to 28017370; 28017372; 28017373
Phenotypes for gene: EBF3 were set to Intellectual Disability, Ataxia, and Facial Dysmorphism
DDG2P v0.1 DYRK1A Rebecca Foulger gene: DYRK1A was added
gene: DYRK1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYRK1A were set to 21294719; 23160955; 23099646
Phenotypes for gene: DYRK1A were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104
DDG2P v0.1 DYNC2H1 Rebecca Foulger Added phenotypes SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 for gene: DYNC2H1
Publications for gene DYNC2H1 were changed from 19442771 to 19442771; 19361615
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 Added phenotypes DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800 for gene: DYM
Publications for gene DYM were changed from 19005420; 12491225 to 12554689; 12491225; 16097008
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 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSTYK were set to 23862974
Phenotypes for gene: DSTYK were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805
DDG2P v0.1 DSPP Rebecca Foulger Added phenotypes DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490 for gene: DSPP
Publications for gene DSPP were changed from 11175790 to 18456718; 11175790; 14758537; 11175779
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 DSG1 Rebecca Foulger gene: DSG1 was added
gene: DSG1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DSG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSG1 were set to 23974871
Phenotypes for gene: DSG1 were set to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING
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 DRC1 Rebecca Foulger gene: DRC1 was added
gene: DRC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRC1 were set to 23354437
Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA 244400
DDG2P v0.1 DPM3 Rebecca Foulger gene: DPM3 was added
gene: DPM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM3 were set to 19576565
Phenotypes for gene: DPM3 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937
DDG2P v0.1 DPM1 Rebecca Foulger gene: DPM1 was added
gene: DPM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPM1 were set to 10642602; 10642597
Phenotypes for gene: DPM1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379
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 Added phenotypes DPAGT1-CDG 300129 for gene: DPAGT1
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 DOCK8 Rebecca Foulger gene: DOCK8 was added
gene: DOCK8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK8 were set to 19776401
Phenotypes for gene: DOCK8 were set to HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700
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 DOCK6 Rebecca Foulger gene: DOCK6 was added
gene: DOCK6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOCK6 were set to 21820096
Phenotypes for gene: DOCK6 were set to ADAMS-OLIVER SYNDROME 2 614219
DDG2P v0.1 DNMT3B Rebecca Foulger gene: DNMT3B was added
gene: DNMT3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMT3B were set to 12239717; 10555141; 10647011
Phenotypes for gene: DNMT3B were set to IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860
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 DNAJC12 Rebecca Foulger gene: DNAJC12 was added
gene: DNAJC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC12 were set to 28132689
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, Dystonia, and Intellectual Disability
DDG2P v0.1 DNAJB13 Rebecca Foulger gene: DNAJB13 was added
gene: DNAJB13 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB13 were set to 27486783
Phenotypes for gene: DNAJB13 were set to Primary Ciliary Dyskinesia and Male Infertility
DDG2P v0.1 DNAH5 Rebecca Foulger gene: DNAH5 was added
gene: DNAH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH5 were set to 27637300
Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3
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 DNAAF4 Rebecca Foulger gene: DNAAF4 was added
gene: DNAAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF4 were set to 23872636
Phenotypes for gene: DNAAF4 were set to PRIMARY CILIARY DYSPLASIA
DDG2P v0.1 DNAAF3 Rebecca Foulger gene: DNAAF3 was added
gene: DNAAF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAAF3 were set to 10745040; 22387996
Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA 606763
DDG2P v0.1 DNA2 Rebecca Foulger gene: DNA2 was added
gene: DNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050
Phenotypes for gene: DNA2 were set to PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807
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 DMP1 Rebecca Foulger gene: DMP1 was added
gene: DMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMP1 were set to 17033625; 17033621
Phenotypes for gene: DMP1 were set to HYPOPHOSPHATEMIC RICKETS, AR 241520
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 for gene: DMD
Publications for gene DMD were changed from 8789442; 8361506; 9683584; 9170407 to 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582
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 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DMD were set to 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470
Phenotypes for gene: DMD were set to BECKER MUSCULAR DYSTROPHY 300376
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 DLL4 Rebecca Foulger gene: DLL4 was added
gene: DLL4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLL4 were set to 26299364
Phenotypes for gene: DLL4 were set to ADAMS-OLIVER SYNDROME 6 616589
DDG2P v0.1 DLL3 Rebecca Foulger gene: DLL3 was added
gene: DLL3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLL3 were set to 10742114; 2805381; 12791036
Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300
DDG2P v0.1 DLG4 Rebecca Foulger gene: DLG4 was added
gene: DLG4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLG4 were set to 27479843
Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability
DDG2P v0.1 DLG3 Rebecca Foulger gene: DLG3 was added
gene: DLG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90 300189
DDG2P v0.1 DLD Rebecca Foulger Added phenotypes LEIGH SYNDROME 256000 for gene: DLD
DDG2P v0.1 DLD Rebecca Foulger gene: DLD was added
gene: DLD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600
DDG2P v0.1 DLAT Rebecca Foulger gene: DLAT was added
gene: DLAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLAT were set to 16049940
Phenotypes for gene: DLAT were set to PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348
DDG2P v0.1 DKC1 Rebecca Foulger Added phenotypes DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1
DDG2P v0.1 DKC1 Rebecca Foulger gene: DKC1 was added
gene: DKC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA 314912
DDG2P v0.1 DIS3L2 Rebecca Foulger gene: DIS3L2 was added
gene: DIS3L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DIS3L2 were set to 22306653; 6093533; 10508986
Phenotypes for gene: DIS3L2 were set to PERLMAN SYNDROME 267000
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 DHTKD1 Rebecca Foulger gene: DHTKD1 was added
gene: DHTKD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 23141293
Phenotypes for gene: DHTKD1 were set to 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750
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 DHODH Rebecca Foulger gene: DHODH was added
gene: DHODH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 19915526
Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS 263750
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 DHCR24 Rebecca Foulger gene: DHCR24 was added
gene: DHCR24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to DESMOSTEROLOSIS 238860
DDG2P v0.1 DGAT1 Rebecca Foulger gene: DGAT1 was added
gene: DGAT1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGAT1 were set to 23114594
Phenotypes for gene: DGAT1 were set to CONGENITAL DIARRHEAL DISORDERS
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 Added phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy for gene: DEAF1
Publications for gene DEAF1 were changed from 24726472; 21076407 to 26834045; 26048982
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 Added phenotypes INTELLECTUAL DIABILITY for gene: DDX3X
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 DDX11 Rebecca Foulger gene: DDX11 was added
gene: DDX11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX11 were set to 23033317; 20137776
Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME 613398
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 DDOST Rebecca Foulger gene: DDOST was added
gene: DDOST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDOST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDOST were set to 22305527
Phenotypes for gene: DDOST were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507
DDG2P v0.1 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to 23176823
Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033
DDG2P v0.1 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to 15786464; 23176821
Phenotypes for gene: DDHD1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030
DDG2P v0.1 DDC Rebecca Foulger gene: DDC was added
gene: DDC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDC were set to 20505134
Phenotypes for gene: DDC were set to AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643
DDG2P v0.1 DDB2 Rebecca Foulger gene: DDB2 was added
gene: DDB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDB2 were set to 10469312; 12812979; 8798680
Phenotypes for gene: DDB2 were set to XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740
DDG2P v0.1 DCX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 1 300067 for gene: DCX
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 DCHS1 Rebecca Foulger gene: DCHS1 was added
gene: DCHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCHS1 were set to 24056717
Phenotypes for gene: DCHS1 were set to PERIVENTRICULAR NEURONAL HETEROTOPIA
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 DCC Rebecca Foulger gene: DCC was added
gene: DCC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability
DDG2P v0.1 DCAF17 Rebecca Foulger gene: DCAF17 was added
gene: DCAF17 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to WOODHOUSE-SAKATI SYNDROME 241080
DDG2P v0.1 DBT Rebecca Foulger gene: DBT was added
gene: DBT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to MAPLE SYRUP URINE DISEASEQ 248600
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 D2HGDH Rebecca Foulger gene: D2HGDH was added
gene: D2HGDH was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 15609246
Phenotypes for gene: D2HGDH were set to D-2-HYDROXYGLUTARIC ACIDURIA 1 600721
DDG2P v0.1 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to 23176821
Phenotypes for gene: CYP2U1 were set to HEREDITARY SPASTIC PARAPLEGIA 615030
DDG2P v0.1 CYP24A1 Rebecca Foulger gene: CYP24A1 was added
gene: CYP24A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 27394135
Phenotypes for gene: CYP24A1 were set to Hereditary 1,25-dihydroxyvitamin D-resistant rickets
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 CWC27 Rebecca Foulger gene: CWC27 was added
gene: CWC27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa, skeletal anomalies and intellectual disability
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 CUL7 Rebecca Foulger gene: CUL7 was added
gene: CUL7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUL7 were set to 17675530; 16142236; 19225462
Phenotypes for gene: CUL7 were set to 3-M SYNDROME 1 273750
DDG2P v0.1 CUL4B Rebecca Foulger gene: CUL4B was added
gene: CUL4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CUL4B were set to 17236139
Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354
DDG2P v0.1 CUL3 Rebecca Foulger gene: CUL3 was added
gene: CUL3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CUL3 was set to
Publications for gene: CUL3 were set to 27824329
Phenotypes for gene: CUL3 were set to CUL3 associated autism spectrum disorder
DDG2P v0.1 CTSK Rebecca Foulger gene: CTSK was added
gene: CTSK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to 10878663; 8703060; 10491211
Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS 265800
DDG2P v0.1 CTSD Rebecca Foulger gene: CTSD was added
gene: CTSD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSD were set to 16670177; 16685649
Phenotypes for gene: CTSD were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127
DDG2P v0.1 CTSA Rebecca Foulger gene: CTSA was added
gene: CTSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSA were set to 8968752; 10944848; 8514852; 9603439; 1756715
Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS 256540
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 CTNND1 Rebecca Foulger gene: CTNND1 was added
gene: CTNND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND1 were set to 100000; 29348693; 28301459
Phenotypes for gene: CTNND1 were set to Blepharo-cheiro-dontic syndrome
DDG2P v0.1 CTNNB1 Rebecca Foulger gene: CTNNB1 was added
gene: CTNNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTNNB1 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
DDG2P v0.1 CTNNA2 Rebecca Foulger gene: CTNNA2 was added
gene: CTNNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Disordered cortical neuronal migration
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 CTCF Rebecca Foulger gene: CTCF was added
gene: CTCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTCF were set to 23746550
Phenotypes for gene: CTCF were set to INTELLECTUAL DISABILITY
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 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 9012407; 15329070; 9342192; 8596935
Phenotypes for gene: CSTB were set to UNVERRICHT-LUNDBORG DISEASE 254800
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 CRYGD Rebecca Foulger Added phenotypes CATARACT AUTOSOMAL DOMINANT 604219 for gene: CRYGD
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 608983 for gene: CRYGD
DDG2P v0.1 CRYGD Rebecca Foulger Added phenotypes CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 for gene: CRYGD
Publications for gene CRYGD were changed from 17564961; 12011157; 10915766; 10521291; 9927684 to 9927684
DDG2P v0.1 CRYGD Rebecca Foulger gene: CRYGD was added
gene: CRYGD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYGD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRYGD were set to 17564961; 12011157; 10915766; 10521291; 9927684
Phenotypes for gene: CRYGD were set to CATARACT CRYSTALLINE ACULEIFORM 115700
DDG2P v0.1 CRYGC Rebecca Foulger Added phenotypes CATARACT COPPOCK-LIKE 604307 for gene: CRYGC
Publications for gene CRYGC were changed from to 12011157; 10521291; 10914683
DDG2P v0.1 CRYGC Rebecca Foulger gene: CRYGC was added
gene: CRYGC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CRYGC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYGC were set to CATARACT AUTOSOMAL DOMINANT 604219
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 CRYBB2 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 for gene: CRYBB2
Publications for gene CRYBB2 were changed from to 11424921; 8812489
DDG2P v0.1 CRYBB2 Rebecca Foulger gene: CRYBB2 was added
gene: CRYBB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRYBB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRYBB2 were set to CATARACT, COPPOCK-LIKE 604307
DDG2P v0.1 CRYBB1 Rebecca Foulger Added phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 for gene: CRYBB1
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 Added phenotypes CATARACT, NUCLEAR 123580 for gene: CRYAA
Publications for gene CRYAA were changed from 11006246 to 19182255
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 CRX Rebecca Foulger gene: CRX was added
gene: CRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRX were set to CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829
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 CREBBP Rebecca Foulger gene: CREBBP was added
gene: CREBBP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREBBP were set to 12114483; 12566391; 7630403; 11331617; 20684013
Phenotypes for gene: CREBBP were set to RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849
DDG2P v0.1 CRBN Rebecca Foulger gene: CRBN was added
gene: CRBN was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CRBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRBN were set to 18414909
Phenotypes for gene: CRBN were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417
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 CRB1 Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS 8 613835 for gene: CRB1
Publications for gene CRB1 were changed from 10508521; 19140180; 11389483 to 11389483; 16543197; 11231775
DDG2P v0.1 CRB1 Rebecca Foulger gene: CRB1 was added
gene: CRB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB1 were set to 10508521; 19140180; 11389483
Phenotypes for gene: CRB1 were set to RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105
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 CPAMD8 Rebecca Foulger gene: CPAMD8 was added
gene: CPAMD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPAMD8 were set to 27839872
Phenotypes for gene: CPAMD8 were set to Anterior Segment Dysgenesis
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 COX6B1 Rebecca Foulger gene: COX6B1 was added
gene: COX6B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX6B1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 COX15 Rebecca Foulger Added phenotypes LEIGH SYNDROME 256000 for gene: COX15
DDG2P v0.1 COX15 Rebecca Foulger gene: COX15 was added
gene: COX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 COX14 Rebecca Foulger gene: COX14 was added
gene: COX14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX14 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 COX10 Rebecca Foulger Added phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 for gene: COX10
Publications for gene COX10 were changed from 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 to 18499082; 10767350; 11013136; 10647889; 10545952
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 COQ9 Rebecca Foulger gene: COQ9 was added
gene: COQ9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ9 were set to 19375058
Phenotypes for gene: COQ9 were set to COENZYME Q10 DEFICIENCY 607426
DDG2P v0.1 COQ8A Rebecca Foulger gene: COQ8A was added
gene: COQ8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to COENZYME Q10 DEFICIENCY 607426
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 COQ4 Rebecca Foulger gene: COQ4 was added
gene: COQ4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ4 were set to 25658047
Phenotypes for gene: COQ4 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276
DDG2P v0.1 COQ2 Rebecca Foulger gene: COQ2 was added
gene: COQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ2 were set to 17332895
Phenotypes for gene: COQ2 were set to COENZYME Q10 DEFICIENCY 607426
DDG2P v0.1 COMP Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400 for gene: COMP
Publications for gene COMP were changed from to 9463320; 7670472; 9887340; 12483304; 9021009
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 COLEC11 Rebecca Foulger gene: COLEC11 was added
gene: COLEC11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC11 were set to 8933348; 21258343; 2569826
Phenotypes for gene: COLEC11 were set to 3MC SYNDROME 2 265050
DDG2P v0.1 COLEC10 Rebecca Foulger gene: COLEC10 was added
gene: COLEC10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COLEC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLEC10 were set to 28301481
Phenotypes for gene: COLEC10 were set to 3MC
DDG2P v0.1 COL9A3 Rebecca Foulger Added phenotypes Stickler syndrome for gene: COL9A3
Publications for gene COL9A3 were changed from 10655510; 15551337; 10090888 to 24273071
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 Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204 for gene: COL9A2
Publications for gene COL9A2 were changed from 21671392 to 10364514; 8528240; 12244547
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 Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 for gene: COL9A1
Publications for gene COL9A1 were changed from 16909383 to 11565064
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 COL6A3 Rebecca Foulger Added phenotypes ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 for gene: COL6A3
Publications for gene COL6A3 were changed from 26004199 to 11992252
DDG2P v0.1 COL6A3 Rebecca Foulger gene: COL6A3 was added
gene: COL6A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL6A3 were set to 26004199
Phenotypes for gene: COL6A3 were set to DYSTONIA 27 616411
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 COL4A4 Rebecca Foulger gene: COL4A4 was added
gene: COL4A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780
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 Added phenotypes ALPORT SYNDROME AUTOSOMAL DOMINANT 104200 for gene: COL4A3
Publications for gene COL4A3 were changed from 7633417; 7987396; 7987301; 9792860 to 11134255; 9269635
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 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 for gene: COL2A1
Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8325895; 2339128; 8423604; 2543071
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 for gene: COL2A1
Publications for gene COL2A1 were changed from 7550321; 8486375; 16088915 to 16752401; 17721977; 15671297
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 for gene: COL2A1
Publications for gene COL2A1 were changed from 21671384; 15930420 to 7550321; 8486375; 16088915
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 for gene: COL2A1
Publications for gene COL2A1 were changed from 8723097; 15316962 to 21671384; 15930420
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes SPONDYLOPERIPHERAL DYSPLASIA 271700 for gene: COL2A1
Publications for gene COL2A1 were changed from 16752401; 17721977; 15671297 to 8723097; 15316962
DDG2P v0.1 COL2A1 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 for gene: COL2A1
Publications for gene COL2A1 were changed from 14729840 to 16752401; 17721977; 15671297
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 COL2A1 Rebecca Foulger Added phenotypes ACHONDROGENESIS TYPE 2 200610 for gene: COL2A1
Publications for gene COL2A1 were changed from 7874117; 7849719; 7981752 to 1429602; 15054848; 1374906; 7829510; 3195588; 7757081
DDG2P v0.1 COL2A1 Rebecca Foulger gene: COL2A1 was added
gene: COL2A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL2A1 were set to 7874117; 7849719; 7981752
Phenotypes for gene: COL2A1 were set to KNIEST DYSPLASIA 156550
DDG2P v0.1 COL25A1 Rebecca Foulger gene: COL25A1 was added
gene: COL25A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL25A1 were set to 25500261
Phenotypes for gene: COL25A1 were set to FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210 for gene: COL1A1
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE IIA 166210 for gene: COL1A1
Publications for gene COL1A1 were changed from 15864348 to 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes CAFFEY DISEASE 114000 for gene: COL1A1
Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 15864348
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060 for gene: COL1A1
Publications for gene COL1A1 were changed from 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493 to 3082886; 18409203; 9295084
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE III 259420 for gene: COL1A1
Publications for gene COL1A1 were changed from 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225 to 7789952; 8723681; 8456809; 8786074; 11286507; 1770532; 2794057; 2037280; 2511192; 8910493
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes OSTEOGENESIS IMPERFECTA TYPE I 166200 for gene: COL1A1
Publications for gene COL1A1 were changed from 3082886; 18409203; 9295084 to 8757037; 15024692; 9067755; 8408653; 2295701; 2794057; 15728585; 1737847; 1988452; 1634225
DDG2P v0.1 COL1A1 Rebecca Foulger Added phenotypes EHLERS-DANLOS SYNDROME TYPE VIIA 319158 for gene: COL1A1
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 COL18A1 Rebecca Foulger gene: COL18A1 was added
gene: COL18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL18A1 were set to 10942434
Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I 315926
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 Added phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME 277610 for gene: COL11A2
Publications for gene COL11A2 were changed from 15372529; 9506662; 7833911 to 15558753; 14234962
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes STICKLER SYNDROME TYPE 3 184840 for gene: COL11A2
Publications for gene COL11A2 were changed from 16033917 to 15372529; 9506662; 7833911
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 for gene: COL11A2
Publications for gene COL11A2 were changed from 10581026 to 16033917
DDG2P v0.1 COL11A2 Rebecca Foulger Added phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868 for gene: COL11A2
Publications for gene COL11A2 were changed from 10677296; 7859284; 16637051; 16189708 to 10581026
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 Added phenotypes STICKLER SYNDROME, TYPE II 604841 for gene: COL11A1
Publications for gene COL11A1 were changed from 21035103 to 10573014; 8872475
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 COG8 Rebecca Foulger gene: COG8 was added
gene: COG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG8 were set to COG8-CDG 300204
DDG2P v0.1 COG7 Rebecca Foulger gene: COG7 was added
gene: COG7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to COG7-CDG 300171
DDG2P v0.1 COG5 Rebecca Foulger gene: COG5 was added
gene: COG5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: COG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG5 were set to COG5-CDG 319494
DDG2P v0.1 COG4 Rebecca Foulger gene: COG4 was added
gene: COG4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG4 were set to COG4-CDG 319493
DDG2P v0.1 COG1 Rebecca Foulger gene: COG1 was added
gene: COG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG1 were set to COG1-CDG 300197
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 COA5 Rebecca Foulger gene: COA5 was added
gene: COA5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COA5 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 CNTNAP2 Rebecca Foulger gene: CNTNAP2 was added
gene: CNTNAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP2 were set to 19896112; 16571880; 11568923
Phenotypes for gene: CNTNAP2 were set to CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042
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 CNOT3 Rebecca Foulger gene: CNOT3 was added
gene: CNOT3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNOT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CNOT3 were set to CNOT3 syndrome
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