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Severe Paediatric Disorders v0.12 MRPS22 Louise Daugherty reviewed gene: MRPS22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MRPS2 Louise Daugherty reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MRPL3 Louise Daugherty reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MRE11 Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPZ Louise Daugherty reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPO Louise Daugherty reviewed gene: MPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPLKIP Louise Daugherty reviewed gene: MPLKIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPL Louise Daugherty reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPIG6B Louise Daugherty reviewed gene: MPIG6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPI Louise Daugherty reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPDU1 Louise Daugherty reviewed gene: MPDU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MPC1 Louise Daugherty reviewed gene: MPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MORC2 Louise Daugherty reviewed gene: MORC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MOGS Louise Daugherty reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MOCS2 Louise Daugherty reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MOCS1 Louise Daugherty reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MNX1 Louise Daugherty reviewed gene: MNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MUT Louise Daugherty edited their review of gene: MUT: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MMUT; Recommended initial gene rating: Green List (high evidence); Phenotypes: Methylmalonic aciduria, mut(0) type, 251000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 MMP21 Louise Daugherty reviewed gene: MMP21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MMP2 Louise Daugherty reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MMP13 Louise Daugherty reviewed gene: MMP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MMAB Louise Daugherty reviewed gene: MMAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MMAA Louise Daugherty reviewed gene: MMAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MLYCD Louise Daugherty reviewed gene: MLYCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MLC1 Louise Daugherty reviewed gene: MLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MKS1 Louise Daugherty reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MKKS Louise Daugherty reviewed gene: MKKS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MITF Louise Daugherty reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MIPEP Louise Daugherty reviewed gene: MIPEP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MID1 Louise Daugherty reviewed gene: MID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MICU1 Louise Daugherty reviewed gene: MICU1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C19orf70 Louise Daugherty edited their review of gene: C19orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MICOS13; Recommended initial gene rating: Green List (high evidence); Phenotypes: Combined oxidative phosphorylation deficiency 37, 618329 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 MGP Louise Daugherty reviewed gene: MGP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MGME1 Louise Daugherty reviewed gene: MGME1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MGAT2 Louise Daugherty reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MFSD8 Louise Daugherty reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MFSD2A Louise Daugherty reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MFRP Louise Daugherty reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MFN2 Louise Daugherty reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MFF Louise Daugherty reviewed gene: MFF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 METTL23 Louise Daugherty reviewed gene: METTL23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MESP2 Louise Daugherty reviewed gene: MESP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEOX1 Louise Daugherty reviewed gene: MEOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEIS2 Louise Daugherty reviewed gene: MEIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEGF8 Louise Daugherty reviewed gene: MEGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEGF10 Louise Daugherty reviewed gene: MEGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEFV Louise Daugherty reviewed gene: MEFV: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MEF2C Louise Daugherty reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MED23 Louise Daugherty reviewed gene: MED23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MED17 Louise Daugherty reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MED13L Louise Daugherty reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MED12 Louise Daugherty reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MECR Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MECP2 Louise Daugherty reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MECOM Louise Daugherty reviewed gene: MECOM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MDH2 Louise Daugherty reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCPH1 Louise Daugherty reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCM4 Louise Daugherty reviewed gene: MCM4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCM3AP Louise Daugherty reviewed gene: MCM3AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCFD2 Louise Daugherty reviewed gene: MCFD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCEE Louise Daugherty reviewed gene: MCEE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCCC2 Louise Daugherty reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MCCC1 Louise Daugherty reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MC2R Louise Daugherty reviewed gene: MC2R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MBTPS2 Louise Daugherty reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MBOAT7 Louise Daugherty reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MBD5 Louise Daugherty reviewed gene: MBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MATR3 Louise Daugherty reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MATN3 Louise Daugherty reviewed gene: MATN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAST1 Louise Daugherty reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MASP2 Louise Daugherty reviewed gene: MASP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MASP1 Louise Daugherty reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MARVELD2 Louise Daugherty reviewed gene: MARVELD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAPRE2 Louise Daugherty reviewed gene: MAPRE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAPKBP1 Louise Daugherty reviewed gene: MAPKBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAPK8IP3 Louise Daugherty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAP3K7 Louise Daugherty reviewed gene: MAP3K7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAP3K20 Louise Daugherty reviewed gene: MAP3K20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAP3K1 Louise Daugherty reviewed gene: MAP3K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAP2K2 Louise Daugherty reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAP2K1 Louise Daugherty reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAOA Louise Daugherty reviewed gene: MAOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MANBA Louise Daugherty reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAN2B1 Louise Daugherty reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAN1B1 Louise Daugherty reviewed gene: MAN1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MALT1 Louise Daugherty reviewed gene: MALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAGT1 Louise Daugherty reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAGI2 Louise Daugherty reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAGEL2 Louise Daugherty reviewed gene: MAGEL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAFB Louise Daugherty reviewed gene: MAFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAF Louise Daugherty reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MACF1 Louise Daugherty reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAB21L2 Louise Daugherty reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 MAB21L1 Louise Daugherty reviewed gene: MAB21L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LZTR1 Louise Daugherty reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LZTFL1 Louise Daugherty reviewed gene: LZTFL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LYRM7 Louise Daugherty reviewed gene: LYRM7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LTBP4 Louise Daugherty reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LTBP3 Louise Daugherty reviewed gene: LTBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LTBP2 Louise Daugherty reviewed gene: LTBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRTOMT Louise Daugherty reviewed gene: LRTOMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRSAM1 Louise Daugherty reviewed gene: LRSAM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRRK2 Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRRC6 Louise Daugherty reviewed gene: LRRC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRPPRC Louise Daugherty reviewed gene: LRPPRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRP5 Louise Daugherty reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRP4 Louise Daugherty reviewed gene: LRP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRP2 Louise Daugherty reviewed gene: LRP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRIG2 Louise Daugherty reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LRBA Louise Daugherty reviewed gene: LRBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LPL Louise Daugherty reviewed gene: LPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LPIN2 Louise Daugherty reviewed gene: LPIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LPIN1 Louise Daugherty reviewed gene: LPIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LOXHD1 Louise Daugherty reviewed gene: LOXHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LONP1 Louise Daugherty reviewed gene: LONP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LNPK Louise Daugherty reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMX1B Louise Daugherty reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMOD3 Louise Daugherty reviewed gene: LMOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMNB1 Louise Daugherty reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMNA Louise Daugherty reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMBRD1 Louise Daugherty reviewed gene: LMBRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMBR1 Louise Daugherty reviewed gene: LMBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LMAN1 Louise Daugherty reviewed gene: LMAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LITAF Louise Daugherty reviewed gene: LITAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LIPT2 Louise Daugherty reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LIPT1 Louise Daugherty reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LIPA Louise Daugherty reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LINS1 Louise Daugherty reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LIG4 Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LIFR Louise Daugherty reviewed gene: LIFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LIAS Louise Daugherty reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LHX4 Louise Daugherty reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LHX3 Louise Daugherty reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LHFPL5 Louise Daugherty reviewed gene: LHFPL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LGI4 Louise Daugherty reviewed gene: LGI4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LGI1 Louise Daugherty reviewed gene: LGI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LFNG Louise Daugherty reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LEPR Louise Daugherty reviewed gene: LEPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LEMD3 Louise Daugherty reviewed gene: LEMD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LDLRAP1 Louise Daugherty reviewed gene: LDLRAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LDLR Louise Daugherty reviewed gene: LDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LDHA Louise Daugherty reviewed gene: LDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LDB3 Louise Daugherty reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LCT Louise Daugherty reviewed gene: LCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LCAT Louise Daugherty reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LBR Louise Daugherty reviewed gene: LBR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAT Louise Daugherty reviewed gene: LAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LARS2 Louise Daugherty reviewed gene: LARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LARP7 Louise Daugherty reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LARGE1 Louise Daugherty reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMTOR2 Louise Daugherty reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMP2 Louise Daugherty reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMC3 Louise Daugherty reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMC2 Louise Daugherty reviewed gene: LAMC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMB3 Louise Daugherty reviewed gene: LAMB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMB2 Louise Daugherty reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMB1 Louise Daugherty reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMA3 Louise Daugherty reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMA2 Louise Daugherty reviewed gene: LAMA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAMA1 Louise Daugherty reviewed gene: LAMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 LAGE3 Louise Daugherty reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KYNU Louise Daugherty reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRT6A Louise Daugherty reviewed gene: KRT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRT5 Louise Daugherty reviewed gene: KRT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRT17 Louise Daugherty reviewed gene: KRT17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRT16 Louise Daugherty reviewed gene: KRT16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRT14 Louise Daugherty reviewed gene: KRT14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRIT1 Louise Daugherty reviewed gene: KRIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KRAS Louise Daugherty reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KPTN Louise Daugherty reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KNL1 Louise Daugherty reviewed gene: KNL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KNG1 Louise Daugherty reviewed gene: KNG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KMT5B Louise Daugherty reviewed gene: KMT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KMT2E Louise Daugherty reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KMT2D Louise Daugherty reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KMT2C Louise Daugherty reviewed gene: KMT2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KMT2B Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KMT2A Louise Daugherty reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KLKB1 Louise Daugherty reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KLHL7 Louise Daugherty reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KLHL41 Louise Daugherty reviewed gene: KLHL41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KLHL40 Louise Daugherty reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KLF1 Louise Daugherty reviewed gene: KLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIT Louise Daugherty reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF1BP Louise Daugherty edited their review of gene: KIF1BP: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KIFBP; Recommended initial gene rating: Green List (high evidence); Phenotypes: Goldberg-Shprintzen megacolon syndrome, 609460 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KIF7 Louise Daugherty reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF5C Louise Daugherty reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF2A Louise Daugherty reviewed gene: KIF2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF23 Louise Daugherty reviewed gene: KIF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF22 Louise Daugherty reviewed gene: KIF22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF21A Louise Daugherty reviewed gene: KIF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF14 Louise Daugherty reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIF11 Louise Daugherty reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIAA1109 Louise Daugherty reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KIAA0586 Louise Daugherty reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KDSR Louise Daugherty reviewed gene: KDSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KDM6A Louise Daugherty reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KDM5B Louise Daugherty reviewed gene: KDM5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KDM1A Louise Daugherty reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCTD7 Louise Daugherty reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCTD3 Louise Daugherty reviewed gene: KCTD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCTD1 Louise Daugherty reviewed gene: KCTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNT1 Louise Daugherty reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNQ5 Louise Daugherty reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNQ4 Louise Daugherty reviewed gene: KCNQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNQ1 Louise Daugherty reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNMA1 Louise Daugherty reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNK9 Louise Daugherty reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNK4 Louise Daugherty reviewed gene: KCNK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNJ6 Louise Daugherty reviewed gene: KCNJ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNJ2 Louise Daugherty reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNJ11 Louise Daugherty reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNJ10 Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNJ1 Louise Daugherty reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNH1 Louise Daugherty reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNE1 Louise Daugherty reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCND3 Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNC1 Louise Daugherty reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNB1 Louise Daugherty reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KBTBD13 Louise Daugherty reviewed gene: KBTBD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KATNB1 Louise Daugherty reviewed gene: KATNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KAT6B Louise Daugherty reviewed gene: KAT6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KAT6A Louise Daugherty reviewed gene: KAT6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 KARS Louise Daugherty edited their review of gene: KARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: KARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3) | Deafness, autosomal recessive 89, 613916 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 KANSL1 Louise Daugherty reviewed gene: KANSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JUP Louise Daugherty reviewed gene: JUP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JPH2 Louise Daugherty reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JAM3 Louise Daugherty reviewed gene: JAM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JAK3 Louise Daugherty reviewed gene: JAK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JAGN1 Louise Daugherty reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 JAG1 Louise Daugherty reviewed gene: JAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IVD Louise Daugherty reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITSN2 Louise Daugherty reviewed gene: ITSN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITPA Louise Daugherty reviewed gene: ITPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITK Louise Daugherty reviewed gene: ITK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGB4 Louise Daugherty reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGB3 Louise Daugherty reviewed gene: ITGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGB2 Louise Daugherty reviewed gene: ITGB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA8 Louise Daugherty reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA7 Louise Daugherty reviewed gene: ITGA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA6 Louise Daugherty reviewed gene: ITGA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA3 Louise Daugherty reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITGA2B Louise Daugherty reviewed gene: ITGA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ITCH Louise Daugherty reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ISG15 Louise Daugherty reviewed gene: ISG15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ISCU Louise Daugherty reviewed gene: ISCU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ISCA2 Louise Daugherty reviewed gene: ISCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ISCA1 Louise Daugherty reviewed gene: ISCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRX5 Louise Daugherty reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRF8 Louise Daugherty reviewed gene: IRF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRF6 Louise Daugherty reviewed gene: IRF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRF2BPL Louise Daugherty reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IRAK4 Louise Daugherty reviewed gene: IRAK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IQSEC2 Louise Daugherty reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IQCB1 Louise Daugherty reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INVS Louise Daugherty reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INTU Louise Daugherty reviewed gene: INTU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INTS1 Louise Daugherty reviewed gene: INTS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INSR Louise Daugherty reviewed gene: INSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INPPL1 Louise Daugherty reviewed gene: INPPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INPP5K Louise Daugherty reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INPP5E Louise Daugherty reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INO80 Louise Daugherty reviewed gene: INO80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 INF2 Louise Daugherty reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IMPAD1 Louise Daugherty reviewed gene: IMPAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ILDR1 Louise Daugherty reviewed gene: ILDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL7R Louise Daugherty reviewed gene: IL7R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL36RN Louise Daugherty reviewed gene: IL36RN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL2RG Louise Daugherty reviewed gene: IL2RG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL2RA Louise Daugherty reviewed gene: IL2RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL21R Louise Daugherty reviewed gene: IL21R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL1RN Louise Daugherty reviewed gene: IL1RN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL1RAPL1 Louise Daugherty reviewed gene: IL1RAPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL17RC Louise Daugherty reviewed gene: IL17RC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL17RA Louise Daugherty reviewed gene: IL17RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL12RB1 Louise Daugherty reviewed gene: IL12RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL12B Louise Daugherty reviewed gene: IL12B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL11RA Louise Daugherty reviewed gene: IL11RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL10RB Louise Daugherty reviewed gene: IL10RB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IL10RA Louise Daugherty reviewed gene: IL10RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IKZF1 Louise Daugherty reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IKBKG Louise Daugherty reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IKBKB Louise Daugherty reviewed gene: IKBKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IHH Louise Daugherty reviewed gene: IHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGSF1 Louise Daugherty reviewed gene: IGSF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGLL1 Louise Daugherty reviewed gene: IGLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGKC Louise Daugherty reviewed gene: IGKC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGHMBP2 Louise Daugherty reviewed gene: IGHMBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGHM Louise Daugherty reviewed gene: IGHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGFALS Louise Daugherty reviewed gene: IGFALS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGF2 Louise Daugherty reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGF1R Louise Daugherty reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IGF1 Louise Daugherty reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT81 Louise Daugherty reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT80 Louise Daugherty reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT52 Louise Daugherty reviewed gene: IFT52: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT43 Louise Daugherty reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT172 Louise Daugherty reviewed gene: IFT172: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT140 Louise Daugherty reviewed gene: IFT140: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFT122 Louise Daugherty reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFNGR2 Louise Daugherty reviewed gene: IFNGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFNGR1 Louise Daugherty reviewed gene: IFNGR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFITM5 Louise Daugherty reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IFIH1 Louise Daugherty reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IER3IP1 Louise Daugherty reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IDUA Louise Daugherty reviewed gene: IDUA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IDS Louise Daugherty reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IDH2 Louise Daugherty reviewed gene: IDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ICOS Louise Daugherty reviewed gene: ICOS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IARS2 Louise Daugherty reviewed gene: IARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 IARS Louise Daugherty edited their review of gene: IARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: IARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HYLS1 Louise Daugherty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HYDIN Louise Daugherty reviewed gene: HYDIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HUWE1 Louise Daugherty reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HTRA2 Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HTRA1 Louise Daugherty reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSPG2 Louise Daugherty reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSPB8 Louise Daugherty reviewed gene: HSPB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSPB1 Louise Daugherty reviewed gene: HSPB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSF4 Louise Daugherty reviewed gene: HSF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSD3B7 Louise Daugherty reviewed gene: HSD3B7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSD17B4 Louise Daugherty reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSD17B3 Louise Daugherty reviewed gene: HSD17B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HSD17B10 Louise Daugherty reviewed gene: HSD17B10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HRAS Louise Daugherty reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HR Louise Daugherty reviewed gene: HR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPSE2 Louise Daugherty reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPS6 Louise Daugherty reviewed gene: HPS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPS5 Louise Daugherty reviewed gene: HPS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPS4 Louise Daugherty reviewed gene: HPS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPS3 Louise Daugherty reviewed gene: HPS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPS1 Louise Daugherty reviewed gene: HPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPRT1 Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPGD Louise Daugherty reviewed gene: HPGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPD Louise Daugherty reviewed gene: HPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HPCA Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HOXD13 Louise Daugherty reviewed gene: HOXD13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HOXC13 Louise Daugherty reviewed gene: HOXC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HOXA13 Louise Daugherty reviewed gene: HOXA13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HOXA11 Louise Daugherty reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HOXA1 Louise Daugherty reviewed gene: HOXA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HOGA1 Louise Daugherty reviewed gene: HOGA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNRNPU Louise Daugherty reviewed gene: HNRNPU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNRNPK Louise Daugherty reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNRNPH2 Louise Daugherty reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNRNPH1 Louise Daugherty reviewed gene: HNRNPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNF4A Louise Daugherty reviewed gene: HNF4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HNF1B Louise Daugherty reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HMGCS2 Louise Daugherty reviewed gene: HMGCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HMGCL Louise Daugherty reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HMBS Louise Daugherty reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HLCS Louise Daugherty reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HK1 Louise Daugherty reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HFE2 Louise Daugherty edited their review of gene: HFE2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HJV; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemochromatosis, type 2A, 602390 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 HIVEP2 Louise Daugherty reviewed gene: HIVEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HINT1 Louise Daugherty reviewed gene: HINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HIBCH Louise Daugherty reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HGSNAT Louise Daugherty reviewed gene: HGSNAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HGD Louise Daugherty reviewed gene: HGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HEXB Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HESX1 Louise Daugherty reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HES7 Louise Daugherty reviewed gene: HES7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HERC1 Louise Daugherty reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HEPACAM Louise Daugherty reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HELLS Louise Daugherty reviewed gene: HELLS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HECW2 Louise Daugherty reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HDAC8 Louise Daugherty reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HDAC4 Louise Daugherty reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HCN2 Louise Daugherty reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HCN1 Louise Daugherty reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HCFC1 Louise Daugherty reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HCCS Louise Daugherty reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HBB Louise Daugherty reviewed gene: HBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HBA2 Louise Daugherty reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HBA1 Louise Daugherty reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HAX1 Louise Daugherty reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HAMP Louise Daugherty reviewed gene: HAMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HADHB Louise Daugherty reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HADHA Louise Daugherty reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HADH Louise Daugherty reviewed gene: HADH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HAAO Louise Daugherty reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 H19 Louise Daugherty reviewed gene: H19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 HIST1H1E Louise Daugherty edited their review of gene: HIST1H1E: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: H1-4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Rahman syndrome, 617537 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GZF1 Louise Daugherty reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GYS2 Louise Daugherty reviewed gene: GYS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GYS1 Louise Daugherty reviewed gene: GYS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GYG1 Louise Daugherty reviewed gene: GYG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GUSB Louise Daugherty reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GUCY2C Louise Daugherty reviewed gene: GUCY2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GTPBP3 Louise Daugherty reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GTPBP2 Louise Daugherty reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GTF2H5 Louise Daugherty reviewed gene: GTF2H5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GSS Louise Daugherty reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DFNA5 Louise Daugherty edited their review of gene: DFNA5: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GSDME; Recommended initial gene rating: Green List (high evidence); Phenotypes: Deafness, autosomal dominant 5, 600994 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GSC Louise Daugherty reviewed gene: GSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRM6 Louise Daugherty reviewed gene: GRM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRM1 Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIP1 Louise Daugherty reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIN2D Louise Daugherty reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIN2B Louise Daugherty reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIN2A Louise Daugherty reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIN1 Louise Daugherty reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIK2 Louise Daugherty reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRID2 Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIA4 Louise Daugherty reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIA3 Louise Daugherty reviewed gene: GRIA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRIA2 Louise Daugherty reviewed gene: GRIA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRHPR Louise Daugherty reviewed gene: GRHPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GRHL3 Louise Daugherty reviewed gene: GRHL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPT2 Louise Daugherty reviewed gene: GPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPSM2 Louise Daugherty reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPR179 Louise Daugherty reviewed gene: GPR179: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPR143 Louise Daugherty reviewed gene: GPR143: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPI Louise Daugherty reviewed gene: GPI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPHN Louise Daugherty reviewed gene: GPHN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPD1 Louise Daugherty reviewed gene: GPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPC6 Louise Daugherty reviewed gene: GPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPC3 Louise Daugherty reviewed gene: GPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GPAA1 Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GP9 Louise Daugherty reviewed gene: GP9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GP6 Louise Daugherty reviewed gene: GP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GP1BB Louise Daugherty reviewed gene: GP1BB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GP1BA Louise Daugherty reviewed gene: GP1BA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GORAB Louise Daugherty reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNS Louise Daugherty reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNPTG Louise Daugherty reviewed gene: GNPTG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNPTAB Louise Daugherty reviewed gene: GNPTAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNPAT Louise Daugherty reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNMT Louise Daugherty reviewed gene: GNMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNE Louise Daugherty reviewed gene: GNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNB5 Louise Daugherty reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNB1 Louise Daugherty reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNAS Louise Daugherty reviewed gene: GNAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNAO1 Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNAL Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNAI3 Louise Daugherty reviewed gene: GNAI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GNAI1 Louise Daugherty reviewed gene: GNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GMPPB Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GMPPA Louise Daugherty reviewed gene: GMPPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GMNN Louise Daugherty reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GM2A Louise Daugherty reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLYCTK Louise Daugherty reviewed gene: GLYCTK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLUL Louise Daugherty reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLUD1 Louise Daugherty reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLRX5 Louise Daugherty reviewed gene: GLRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLMN Louise Daugherty reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLIS3 Louise Daugherty reviewed gene: GLIS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLI3 Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLI2 Louise Daugherty reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLI1 Louise Daugherty reviewed gene: GLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLE1 Louise Daugherty reviewed gene: GLE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLDN Louise Daugherty reviewed gene: GLDN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLDC Louise Daugherty reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLB1 Louise Daugherty reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GLA Louise Daugherty reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GK Louise Daugherty reviewed gene: GK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJB3 Louise Daugherty reviewed gene: GJB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJB2 Louise Daugherty reviewed gene: GJB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJB1 Louise Daugherty reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJA8 Louise Daugherty reviewed gene: GJA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJA3 Louise Daugherty reviewed gene: GJA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GJA1 Louise Daugherty reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GIPC3 Louise Daugherty reviewed gene: GIPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GINS1 Louise Daugherty reviewed gene: GINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GHRHR Louise Daugherty reviewed gene: GHRHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GHR Louise Daugherty reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GH1 Louise Daugherty reviewed gene: GH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GGCX Louise Daugherty reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GFPT1 Louise Daugherty reviewed gene: GFPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GFM2 Louise Daugherty reviewed gene: GFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GFM1 Louise Daugherty reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GFI1B Louise Daugherty reviewed gene: GFI1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GFER Louise Daugherty reviewed gene: GFER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GDI1 Louise Daugherty reviewed gene: GDI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GDF6 Louise Daugherty reviewed gene: GDF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GDF5 Louise Daugherty reviewed gene: GDF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GDAP1 Louise Daugherty reviewed gene: GDAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GCLC Louise Daugherty reviewed gene: GCLC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GCK Louise Daugherty reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GCDH Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GBE1 Louise Daugherty reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATM Louise Daugherty reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATAD2B Louise Daugherty reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATA6 Louise Daugherty reviewed gene: GATA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATA4 Louise Daugherty reviewed gene: GATA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATA3 Louise Daugherty reviewed gene: GATA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATA2 Louise Daugherty reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GATA1 Louise Daugherty reviewed gene: GATA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GAS8 Louise Daugherty reviewed gene: GAS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GARS Louise Daugherty edited their review of gene: GARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, type 2D, 601472 (3) | Neuropathy, distal hereditary motor, type VA, 600794 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 GANAB Louise Daugherty reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GAN Louise Daugherty reviewed gene: GAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GAMT Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GALT Louise Daugherty reviewed gene: GALT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GALNT3 Louise Daugherty reviewed gene: GALNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GALNS Louise Daugherty reviewed gene: GALNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GALK1 Louise Daugherty reviewed gene: GALK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GALE Louise Daugherty reviewed gene: GALE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GALC Louise Daugherty reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GABRG2 Louise Daugherty reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GABRB3 Louise Daugherty reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GABRB2 Louise Daugherty reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GABRA2 Louise Daugherty reviewed gene: GABRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GABRA1 Louise Daugherty reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GABBR2 Louise Daugherty reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GAA Louise Daugherty reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 G6PD Louise Daugherty reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 G6PC3 Louise Daugherty reviewed gene: G6PC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 G6PC Louise Daugherty reviewed gene: G6PC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FZD6 Louise Daugherty reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FZD2 Louise Daugherty reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FYCO1 Louise Daugherty reviewed gene: FYCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FYB1 Louise Daugherty reviewed gene: FYB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FUT8 Louise Daugherty reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FUCA1 Louise Daugherty reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FTSJ1 Louise Daugherty reviewed gene: FTSJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FTCD Louise Daugherty reviewed gene: FTCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FRRS1L Louise Daugherty reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FRMPD4 Louise Daugherty reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FRMD7 Louise Daugherty reviewed gene: FRMD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FREM2 Louise Daugherty reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FREM1 Louise Daugherty reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FRAS1 Louise Daugherty reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXRED1 Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXP3 Louise Daugherty reviewed gene: FOXP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXP2 Louise Daugherty reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXP1 Louise Daugherty reviewed gene: FOXP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXN1 Louise Daugherty reviewed gene: FOXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXG1 Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXF1 Louise Daugherty reviewed gene: FOXF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXE3 Louise Daugherty reviewed gene: FOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXE1 Louise Daugherty reviewed gene: FOXE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXC2 Louise Daugherty reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOXC1 Louise Daugherty reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FOLR1 Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FN1 Louise Daugherty reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FMO3 Louise Daugherty reviewed gene: FMO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FMN2 Louise Daugherty reviewed gene: FMN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLVCR1 Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLT4 Louise Daugherty reviewed gene: FLT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLNC Louise Daugherty reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLNB Louise Daugherty reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLNA Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLI1 Louise Daugherty reviewed gene: FLI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLCN Louise Daugherty reviewed gene: FLCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FLAD1 Louise Daugherty reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FKRP Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FKBP14 Louise Daugherty reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FKBP10 Louise Daugherty reviewed gene: FKBP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FIG4 Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FHL1 Louise Daugherty reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FH Louise Daugherty reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGG Louise Daugherty reviewed gene: FGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGFR3 Louise Daugherty reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGFR2 Louise Daugherty reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGFR1 Louise Daugherty reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF8 Louise Daugherty reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF3 Louise Daugherty reviewed gene: FGF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF23 Louise Daugherty reviewed gene: FGF23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF16 Louise Daugherty reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF12 Louise Daugherty reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGF10 Louise Daugherty reviewed gene: FGF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGD4 Louise Daugherty reviewed gene: FGD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGD1 Louise Daugherty reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGB Louise Daugherty reviewed gene: FGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FGA Louise Daugherty reviewed gene: FGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FERMT3 Louise Daugherty reviewed gene: FERMT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FECH Louise Daugherty reviewed gene: FECH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FDXR Louise Daugherty reviewed gene: FDXR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FDX2 Louise Daugherty reviewed gene: FDX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FCN3 Louise Daugherty reviewed gene: FCN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FCGR3B Louise Daugherty reviewed gene: FCGR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FCGR3A Louise Daugherty reviewed gene: FCGR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBXO7 Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBXO11 Louise Daugherty reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBXL4 Louise Daugherty reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBXL3 Louise Daugherty reviewed gene: FBXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBP1 Louise Daugherty reviewed gene: FBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBN2 Louise Daugherty reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBN1 Louise Daugherty reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FBLN5 Louise Daugherty reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAT4 Louise Daugherty reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FASLG Louise Daugherty reviewed gene: FASLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAS Louise Daugherty reviewed gene: FAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAR1 Louise Daugherty reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCL Louise Daugherty reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCI Louise Daugherty reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCG Louise Daugherty reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCF Louise Daugherty reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCE Louise Daugherty reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCD2 Louise Daugherty reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCC Louise Daugherty reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FANCA Louise Daugherty reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM20C Louise Daugherty reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM20A Louise Daugherty reviewed gene: FAM20A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM161A Louise Daugherty reviewed gene: FAM161A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM126A Louise Daugherty reviewed gene: FAM126A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM111B Louise Daugherty reviewed gene: FAM111B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM111A Louise Daugherty reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAH Louise Daugherty reviewed gene: FAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FADD Louise Daugherty reviewed gene: FADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F9 Louise Daugherty reviewed gene: F9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F8 Louise Daugherty reviewed gene: F8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F7 Louise Daugherty reviewed gene: F7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F5 Louise Daugherty reviewed gene: F5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F2 Louise Daugherty reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F13B Louise Daugherty reviewed gene: F13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F13A1 Louise Daugherty reviewed gene: F13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F12 Louise Daugherty reviewed gene: F12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F11 Louise Daugherty reviewed gene: F11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 F10 Louise Daugherty reviewed gene: F10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EZH2 Louise Daugherty reviewed gene: EZH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EYA4 Louise Daugherty reviewed gene: EYA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EYA1 Louise Daugherty reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EXTL3 Louise Daugherty reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EXT2 Louise Daugherty reviewed gene: EXT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EXT1 Louise Daugherty reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EXOSC3 Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EVC2 Louise Daugherty reviewed gene: EVC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EVC Louise Daugherty reviewed gene: EVC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETV6 Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETHE1 Louise Daugherty reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETFDH Louise Daugherty reviewed gene: ETFDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETFB Louise Daugherty reviewed gene: ETFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ETFA Louise Daugherty reviewed gene: ETFA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ESRRB Louise Daugherty reviewed gene: ESRRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ESCO2 Louise Daugherty reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERF Louise Daugherty reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC8 Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC6L2 Louise Daugherty reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC5 Louise Daugherty reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC4 Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC3 Louise Daugherty reviewed gene: ERCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC2 Louise Daugherty reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ERCC1 Louise Daugherty reviewed gene: ERCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EPRS Louise Daugherty edited their review of gene: EPRS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: EPRS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Leukodystrophy, hypomyelinating, 15, 617951 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 EPM2A Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EPHB4 Louise Daugherty reviewed gene: EPHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EPG5 Louise Daugherty reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EPB42 Louise Daugherty reviewed gene: EPB42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EPB41 Louise Daugherty reviewed gene: EPB41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EP300 Louise Daugherty reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EOGT Louise Daugherty reviewed gene: EOGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ENPP1 Louise Daugherty reviewed gene: ENPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ENO3 Louise Daugherty reviewed gene: ENO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ENG Louise Daugherty reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EMX2 Louise Daugherty reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EML1 Louise Daugherty reviewed gene: EML1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EMD Louise Daugherty reviewed gene: EMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EMC1 Louise Daugherty reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELP2 Louise Daugherty reviewed gene: ELP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELP1 Louise Daugherty reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELOVL5 Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELOVL4 Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELN Louise Daugherty reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELANE Louise Daugherty reviewed gene: ELANE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ELAC2 Louise Daugherty reviewed gene: ELAC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF4A3 Louise Daugherty reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF3F Louise Daugherty reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2S3 Louise Daugherty reviewed gene: EIF2S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EIF2AK3 Louise Daugherty reviewed gene: EIF2AK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EHMT1 Louise Daugherty reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EGR2 Louise Daugherty reviewed gene: EGR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EFTUD2 Louise Daugherty reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EFNB1 Louise Daugherty reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EFHC1 Louise Daugherty reviewed gene: EFHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EEF1A2 Louise Daugherty reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EED Louise Daugherty reviewed gene: EED: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDNRB Louise Daugherty reviewed gene: EDNRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDNRA Louise Daugherty reviewed gene: EDNRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDARADD Louise Daugherty reviewed gene: EDARADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDAR Louise Daugherty reviewed gene: EDAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EDA Louise Daugherty reviewed gene: EDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ECHS1 Louise Daugherty reviewed gene: ECHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ECEL1 Louise Daugherty reviewed gene: ECEL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EBP Louise Daugherty reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EBF3 Louise Daugherty reviewed gene: EBF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DZIP1L Louise Daugherty reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DYSF Louise Daugherty reviewed gene: DYSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DYRK1A Louise Daugherty reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DYNC2LI1 Louise Daugherty reviewed gene: DYNC2LI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DYNC2H1 Louise Daugherty reviewed gene: DYNC2H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DYM Louise Daugherty reviewed gene: DYM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DVL3 Louise Daugherty reviewed gene: DVL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DVL1 Louise Daugherty reviewed gene: DVL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DUOX2 Louise Daugherty reviewed gene: DUOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DTNBP1 Louise Daugherty reviewed gene: DTNBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DSPP Louise Daugherty reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DSP Louise Daugherty reviewed gene: DSP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPYS Louise Daugherty reviewed gene: DPYS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPYD Louise Daugherty reviewed gene: DPYD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPP6 Louise Daugherty reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPM3 Louise Daugherty reviewed gene: DPM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPM2 Louise Daugherty reviewed gene: DPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPM1 Louise Daugherty reviewed gene: DPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPH1 Louise Daugherty reviewed gene: DPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPF2 Louise Daugherty reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DPAGT1 Louise Daugherty reviewed gene: DPAGT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DONSON Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOLK Louise Daugherty reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOK7 Louise Daugherty reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOCK8 Louise Daugherty reviewed gene: DOCK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOCK7 Louise Daugherty reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOCK6 Louise Daugherty reviewed gene: DOCK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOCK3 Louise Daugherty reviewed gene: DOCK3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DOCK2 Louise Daugherty reviewed gene: DOCK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNMT3B Louise Daugherty reviewed gene: DNMT3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNMT3A Louise Daugherty reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNM2 Louise Daugherty reviewed gene: DNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNM1L Louise Daugherty reviewed gene: DNM1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNM1 Louise Daugherty reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNASE2 Louise Daugherty reviewed gene: DNASE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAJC5 Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAJC21 Louise Daugherty reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAJC19 Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAJC12 Louise Daugherty reviewed gene: DNAJC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAJB6 Louise Daugherty reviewed gene: DNAJB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAJB11 Louise Daugherty reviewed gene: DNAJB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAI1 Louise Daugherty reviewed gene: DNAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAH9 Louise Daugherty reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAH5 Louise Daugherty reviewed gene: DNAH5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAH11 Louise Daugherty reviewed gene: DNAH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAAF4 Louise Daugherty reviewed gene: DNAAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAAF3 Louise Daugherty reviewed gene: DNAAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNAAF1 Louise Daugherty reviewed gene: DNAAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DNA2 Louise Daugherty reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DMPK Louise Daugherty reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DMP1 Louise Daugherty reviewed gene: DMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DMD Louise Daugherty reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLX5 Louise Daugherty reviewed gene: DLX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLX3 Louise Daugherty reviewed gene: DLX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLL4 Louise Daugherty reviewed gene: DLL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLL3 Louise Daugherty reviewed gene: DLL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLG4 Louise Daugherty reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLG3 Louise Daugherty reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLD Louise Daugherty reviewed gene: DLD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DKC1 Louise Daugherty reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DISP1 Louise Daugherty reviewed gene: DISP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DIS3L2 Louise Daugherty reviewed gene: DIS3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DIAPH1 Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHX30 Louise Daugherty reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHTKD1 Louise Daugherty reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHPS Louise Daugherty reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHODH Louise Daugherty reviewed gene: DHODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHFR Louise Daugherty reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHDDS Louise Daugherty reviewed gene: DHDDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHCR7 Louise Daugherty reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DHCR24 Louise Daugherty reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DGUOK Louise Daugherty reviewed gene: DGUOK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DGKE Louise Daugherty reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DES Louise Daugherty reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DEPDC5 Louise Daugherty reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DENND5A Louise Daugherty reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DEGS1 Louise Daugherty reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DEAF1 Louise Daugherty reviewed gene: DEAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDX59 Louise Daugherty reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDX3X Louise Daugherty reviewed gene: DDX3X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDX11 Louise Daugherty reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDR2 Louise Daugherty reviewed gene: DDR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDC Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DDB2 Louise Daugherty reviewed gene: DDB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCX Louise Daugherty reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCPS Louise Daugherty reviewed gene: DCPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCLRE1C Louise Daugherty reviewed gene: DCLRE1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCLRE1B Louise Daugherty reviewed gene: DCLRE1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCHS1 Louise Daugherty reviewed gene: DCHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCDC2 Louise Daugherty reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCC Louise Daugherty reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DCAF17 Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DBT Louise Daugherty reviewed gene: DBT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DBH Louise Daugherty reviewed gene: DBH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DARS Louise Daugherty edited their review of gene: DARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: DARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 DAB1 Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 D2HGDH Louise Daugherty reviewed gene: D2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP4F22 Louise Daugherty reviewed gene: CYP4F22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP27B1 Louise Daugherty reviewed gene: CYP27B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP21A2 Louise Daugherty reviewed gene: CYP21A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP1B1 Louise Daugherty reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP17A1 Louise Daugherty reviewed gene: CYP17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP11B1 Louise Daugherty reviewed gene: CYP11B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYP11A1 Louise Daugherty reviewed gene: CYP11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYFIP2 Louise Daugherty reviewed gene: CYFIP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYCS Louise Daugherty reviewed gene: CYCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYC1 Louise Daugherty reviewed gene: CYC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYBB Louise Daugherty reviewed gene: CYBB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYBA Louise Daugherty reviewed gene: CYBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CYB5R3 Louise Daugherty reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CXCR4 Louise Daugherty reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CWF19L1 Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CWC27 Louise Daugherty reviewed gene: CWC27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CUX2 Louise Daugherty reviewed gene: CUX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CUX1 Louise Daugherty reviewed gene: CUX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CUL7 Louise Daugherty reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CUL4B Louise Daugherty reviewed gene: CUL4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CUBN Louise Daugherty reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTSK Louise Daugherty reviewed gene: CTSK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTSF Louise Daugherty reviewed gene: CTSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTSD Louise Daugherty reviewed gene: CTSD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTSC Louise Daugherty reviewed gene: CTSC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTSA Louise Daugherty reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTPS1 Louise Daugherty reviewed gene: CTPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTNS Louise Daugherty reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTNND1 Louise Daugherty reviewed gene: CTNND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTNNB1 Louise Daugherty reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTNNA2 Louise Daugherty reviewed gene: CTNNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTLA4 Louise Daugherty reviewed gene: CTLA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTH Louise Daugherty reviewed gene: CTH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTDP1 Louise Daugherty reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTCF Louise Daugherty reviewed gene: CTCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTC1 Louise Daugherty reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CTBP1 Louise Daugherty reviewed gene: CTBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSPP1 Louise Daugherty reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSNK2B Louise Daugherty reviewed gene: CSNK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSNK2A1 Louise Daugherty reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSF3R Louise Daugherty reviewed gene: CSF3R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSF2RB Louise Daugherty reviewed gene: CSF2RB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSF2RA Louise Daugherty reviewed gene: CSF2RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYGD Louise Daugherty reviewed gene: CRYGD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYGC Louise Daugherty reviewed gene: CRYGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYBB3 Louise Daugherty reviewed gene: CRYBB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYBB2 Louise Daugherty reviewed gene: CRYBB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYBB1 Louise Daugherty reviewed gene: CRYBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYBA4 Louise Daugherty reviewed gene: CRYBA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYBA1 Louise Daugherty reviewed gene: CRYBA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYAB Louise Daugherty reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRYAA Louise Daugherty reviewed gene: CRYAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRX Louise Daugherty reviewed gene: CRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRTAP Louise Daugherty reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CRPPA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CRLF1 Louise Daugherty reviewed gene: CRLF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRIPT Louise Daugherty reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CREBBP Louise Daugherty reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRB2 Louise Daugherty reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRB1 Louise Daugherty reviewed gene: CRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CRADD Louise Daugherty reviewed gene: CRADD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CR2 Louise Daugherty reviewed gene: CR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPT2 Louise Daugherty reviewed gene: CPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPT1A Louise Daugherty reviewed gene: CPT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPS1 Louise Daugherty reviewed gene: CPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CPOX Louise Daugherty reviewed gene: CPOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C5orf42 Louise Daugherty edited their review of gene: C5orf42: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CPLANE1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Joubert syndrome 17, 614615 (3) | Orofaciodigital syndrome VI, 277170 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CPA6 Louise Daugherty reviewed gene: CPA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COX7B Louise Daugherty reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COX6B1 Louise Daugherty reviewed gene: COX6B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COX6A1 Louise Daugherty reviewed gene: COX6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COX20 Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COX15 Louise Daugherty reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COX10 Louise Daugherty reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CORO1A Louise Daugherty reviewed gene: CORO1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COQ9 Louise Daugherty reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COQ8B Louise Daugherty reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COQ8A Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COQ6 Louise Daugherty reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COQ4 Louise Daugherty reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COQ2 Louise Daugherty reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COPA Louise Daugherty reviewed gene: COPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COMP Louise Daugherty reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COLQ Louise Daugherty reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COLEC11 Louise Daugherty reviewed gene: COLEC11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COLEC10 Louise Daugherty reviewed gene: COLEC10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL9A3 Louise Daugherty reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL9A2 Louise Daugherty reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL9A1 Louise Daugherty reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL7A1 Louise Daugherty reviewed gene: COL7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL6A3 Louise Daugherty reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL6A2 Louise Daugherty reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL6A1 Louise Daugherty reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL5A2 Louise Daugherty reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL5A1 Louise Daugherty reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL4A5 Louise Daugherty reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL4A4 Louise Daugherty reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL4A3 Louise Daugherty reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL4A2 Louise Daugherty reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL3A1 Louise Daugherty reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL2A1 Louise Daugherty reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL1A2 Louise Daugherty reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL1A1 Louise Daugherty reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL18A1 Louise Daugherty reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL17A1 Louise Daugherty reviewed gene: COL17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL13A1 Louise Daugherty reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL12A1 Louise Daugherty reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL11A2 Louise Daugherty reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL11A1 Louise Daugherty reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COL10A1 Louise Daugherty reviewed gene: COL10A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COG8 Louise Daugherty reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COG7 Louise Daugherty reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COG6 Louise Daugherty reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COG5 Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COG4 Louise Daugherty reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COG1 Louise Daugherty reviewed gene: COG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COCH Louise Daugherty reviewed gene: COCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APOPT1 Louise Daugherty edited their review of gene: APOPT1: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COA8; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex IV deficiency, 220110 (3); Mode of inheritance: Autosomal recessive, Mitochondrial; Changed rating: AMBER
Severe Paediatric Disorders v0.12 COA7 Louise Daugherty reviewed gene: COA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 COA6 Louise Daugherty reviewed gene: COA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNTNAP2 Louise Daugherty reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNTNAP1 Louise Daugherty reviewed gene: CNTNAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNPY3 Louise Daugherty reviewed gene: CNPY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNOT3 Louise Daugherty reviewed gene: CNOT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNOT1 Louise Daugherty reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNNM2 Louise Daugherty reviewed gene: CNNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNKSR2 Louise Daugherty reviewed gene: CNKSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNGB3 Louise Daugherty reviewed gene: CNGB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CNBP Louise Daugherty reviewed gene: CNBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLTC Louise Daugherty reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLRN1 Louise Daugherty reviewed gene: CLRN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLPP Louise Daugherty reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLPB Louise Daugherty reviewed gene: CLPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLP1 Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLN8 Louise Daugherty reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLN6 Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLN5 Louise Daugherty reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLN3 Louise Daugherty reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLDN19 Louise Daugherty reviewed gene: CLDN19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLDN16 Louise Daugherty reviewed gene: CLDN16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLDN14 Louise Daugherty reviewed gene: CLDN14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLDN1 Louise Daugherty reviewed gene: CLDN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLCN7 Louise Daugherty reviewed gene: CLCN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLCN5 Louise Daugherty reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLCN4 Louise Daugherty reviewed gene: CLCN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CLCN2 Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CKAP2L Louise Daugherty reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CIT Louise Daugherty reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CISD2 Louise Daugherty reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ICK Louise Daugherty edited their review of gene: ICK: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CILK1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Endocrine-cerebroosteodysplasia, 612651 (3) | {Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CIITA Louise Daugherty reviewed gene: CIITA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CIC Louise Daugherty reviewed gene: CIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CIB2 Louise Daugherty reviewed gene: CIB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHUK Louise Daugherty reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHSY1 Louise Daugherty reviewed gene: CHSY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHST6 Louise Daugherty reviewed gene: CHST6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHST3 Louise Daugherty reviewed gene: CHST3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHST14 Louise Daugherty reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNG Louise Daugherty reviewed gene: CHRNG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNE Louise Daugherty reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRND Louise Daugherty reviewed gene: CHRND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNB2 Louise Daugherty reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNB1 Louise Daugherty reviewed gene: CHRNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNA4 Louise Daugherty reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNA2 Louise Daugherty reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRNA1 Louise Daugherty reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHRDL1 Louise Daugherty reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHMP1A Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHM Louise Daugherty reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHKB Louise Daugherty reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHD8 Louise Daugherty reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHD7 Louise Daugherty reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHD4 Louise Daugherty reviewed gene: CHD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHD3 Louise Daugherty reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHD2 Louise Daugherty reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHCHD10 Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHAT Louise Daugherty reviewed gene: CHAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CHAMP1 Louise Daugherty reviewed gene: CHAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFTR Louise Daugherty reviewed gene: CFTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFP Louise Daugherty reviewed gene: CFP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFL2 Louise Daugherty reviewed gene: CFL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFI Louise Daugherty reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFHR5 Louise Daugherty reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFH Louise Daugherty reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFD Louise Daugherty reviewed gene: CFD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CFC1 Louise Daugherty reviewed gene: CFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C21orf2 Louise Daugherty edited their review of gene: C21orf2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CFAP410; Recommended initial gene rating: Green List (high evidence); Phenotypes: Retinal dystrophy with macular staphyloma, 617547 (3) | Spondylometaphyseal dysplasia, axial, 602271 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 C11orf70 Louise Daugherty edited their review of gene: C11orf70: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CFAP300; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ciliary dyskinesia, primary, 38, 618063 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 COL4A3BP Louise Daugherty edited their review of gene: COL4A3BP: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CERT1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mental retardation, autosomal dominant 34, 616351 (3); Mode of inheritance: Autosomal dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CEP83 Louise Daugherty reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP63 Louise Daugherty reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP57 Louise Daugherty reviewed gene: CEP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP41 Louise Daugherty reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP290 Louise Daugherty reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP164 Louise Daugherty reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP152 Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP135 Louise Daugherty reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP120 Louise Daugherty reviewed gene: CEP120: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEP104 Louise Daugherty reviewed gene: CEP104: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CENPJ Louise Daugherty reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CENPF Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CEBPE Louise Daugherty reviewed gene: CEBPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDX1 Louise Daugherty reviewed gene: CDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDT1 Louise Daugherty reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDSN Louise Daugherty reviewed gene: CDSN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDON Louise Daugherty reviewed gene: CDON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDKN1C Louise Daugherty reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDKL5 Louise Daugherty reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDK8 Louise Daugherty reviewed gene: CDK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDK5RAP2 Louise Daugherty reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDK13 Louise Daugherty reviewed gene: CDK13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDK10 Louise Daugherty reviewed gene: CDK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDH3 Louise Daugherty reviewed gene: CDH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDH23 Louise Daugherty reviewed gene: CDH23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDH15 Louise Daugherty reviewed gene: CDH15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDH11 Louise Daugherty reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDH1 Louise Daugherty reviewed gene: CDH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDCA7 Louise Daugherty reviewed gene: CDCA7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDC45 Louise Daugherty reviewed gene: CDC45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDC42 Louise Daugherty reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CDAN1 Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD8A Louise Daugherty reviewed gene: CD8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD81 Louise Daugherty reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD79B Louise Daugherty reviewed gene: CD79B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD79A Louise Daugherty reviewed gene: CD79A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD70 Louise Daugherty reviewed gene: CD70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD59 Louise Daugherty reviewed gene: CD59: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD55 Louise Daugherty reviewed gene: CD55: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD40LG Louise Daugherty reviewed gene: CD40LG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD40 Louise Daugherty reviewed gene: CD40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD3G Louise Daugherty reviewed gene: CD3G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD3E Louise Daugherty reviewed gene: CD3E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD3D Louise Daugherty reviewed gene: CD3D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD27 Louise Daugherty reviewed gene: CD27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD247 Louise Daugherty reviewed gene: CD247: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CD19 Louise Daugherty reviewed gene: CD19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 FAM58A Louise Daugherty edited their review of gene: FAM58A: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CCNQ; Recommended initial gene rating: Green List (high evidence); Phenotypes: STAR syndrome, 300707 (3); Mode of inheritance: X-linked dominant; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CCNO Louise Daugherty reviewed gene: CCNO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCND2 Louise Daugherty reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 WISP3 Louise Daugherty edited their review of gene: WISP3: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CCN6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) | Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC8 Louise Daugherty reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC65 Louise Daugherty reviewed gene: CCDC65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC47 Louise Daugherty reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC40 Louise Daugherty reviewed gene: CCDC40: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC39 Louise Daugherty reviewed gene: CCDC39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC22 Louise Daugherty reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC115 Louise Daugherty reviewed gene: CCDC115: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC114 Louise Daugherty reviewed gene: CCDC114: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCDC103 Louise Daugherty reviewed gene: CCDC103: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CCBE1 Louise Daugherty reviewed gene: CCBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CC2D2A Louise Daugherty reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CC2D1A Louise Daugherty reviewed gene: CC2D1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CBS Louise Daugherty reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GIF Louise Daugherty edited their review of gene: GIF: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CBLIF; Recommended initial gene rating: Green List (high evidence); Phenotypes: Intrinsic factor deficiency, 261000 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CBL Louise Daugherty reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAVIN1 Louise Daugherty reviewed gene: CAVIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAV3 Louise Daugherty reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAT Louise Daugherty reviewed gene: CAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CASR Louise Daugherty reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CASQ2 Louise Daugherty reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CASQ1 Louise Daugherty reviewed gene: CASQ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CASP10 Louise Daugherty reviewed gene: CASP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CARS2 Louise Daugherty reviewed gene: CARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CARS Louise Daugherty edited their review of gene: CARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nail; Mode of inheritance: ; Changed rating: AMBER
Severe Paediatric Disorders v0.12 CARMIL2 Louise Daugherty reviewed gene: CARMIL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CARD9 Louise Daugherty reviewed gene: CARD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CARD14 Louise Daugherty reviewed gene: CARD14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CARD11 Louise Daugherty reviewed gene: CARD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAPN3 Louise Daugherty reviewed gene: CAPN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CANT1 Louise Daugherty reviewed gene: CANT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAMTA1 Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAMK2B Louise Daugherty reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAMK2A Louise Daugherty reviewed gene: CAMK2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CAD Louise Daugherty reviewed gene: CAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1S Louise Daugherty reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1G Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1F Louise Daugherty reviewed gene: CACNA1F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1E Louise Daugherty reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1D Louise Daugherty reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1C Louise Daugherty reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1B Louise Daugherty reviewed gene: CACNA1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CA8 Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CA5A Louise Daugherty reviewed gene: CA5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 CA2 Louise Daugherty reviewed gene: CA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C9 Louise Daugherty reviewed gene: C9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C8orf37 Louise Daugherty reviewed gene: C8orf37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C8G Louise Daugherty reviewed gene: C8G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C8B Louise Daugherty reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C8A Louise Daugherty reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C7 Louise Daugherty reviewed gene: C7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C6 Louise Daugherty reviewed gene: C6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C5 Louise Daugherty reviewed gene: C5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C4B Louise Daugherty reviewed gene: C4B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C4A Louise Daugherty reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C3 Louise Daugherty reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C2CD3 Louise Daugherty reviewed gene: C2CD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C2 Louise Daugherty reviewed gene: C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C1S Louise Daugherty reviewed gene: C1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C1R Louise Daugherty reviewed gene: C1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C1QC Louise Daugherty reviewed gene: C1QC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C1QBP Louise Daugherty reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C1QB Louise Daugherty reviewed gene: C1QB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C1QA Louise Daugherty reviewed gene: C1QA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C15orf41 Louise Daugherty reviewed gene: C15orf41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C12orf57 Louise Daugherty reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 C12orf4 Louise Daugherty reviewed gene: C12orf4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BUB1B Louise Daugherty reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BTK Louise Daugherty reviewed gene: BTK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BTD Louise Daugherty reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BSND Louise Daugherty reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRWD3 Louise Daugherty reviewed gene: BRWD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRSK2 Louise Daugherty reviewed gene: BRSK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRPF1 Louise Daugherty reviewed gene: BRPF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRIP1 Louise Daugherty reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRF1 Louise Daugherty reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRD4 Louise Daugherty reviewed gene: BRD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRCA2 Louise Daugherty reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRCA1 Louise Daugherty reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRAT1 Louise Daugherty reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BRAF Louise Daugherty reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BPTF Louise Daugherty reviewed gene: BPTF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BOLA3 Louise Daugherty reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BNC2 Louise Daugherty reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BMPR1B Louise Daugherty reviewed gene: BMPR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BMPR1A Louise Daugherty reviewed gene: BMPR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BMPER Louise Daugherty reviewed gene: BMPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BMP4 Louise Daugherty reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BMP2 Louise Daugherty reviewed gene: BMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BMP1 Louise Daugherty reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BLOC1S3 Louise Daugherty reviewed gene: BLOC1S3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BLM Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BIN1 Louise Daugherty reviewed gene: BIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BICD2 Louise Daugherty reviewed gene: BICD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BHLHA9 Louise Daugherty reviewed gene: BHLHA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BGN Louise Daugherty reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BFSP2 Louise Daugherty reviewed gene: BFSP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BEAN1 Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCS1L Louise Daugherty reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCOR Louise Daugherty reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCL11B Louise Daugherty reviewed gene: BCL11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCL11A Louise Daugherty reviewed gene: BCL11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCKDK Louise Daugherty reviewed gene: BCKDK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCKDHB Louise Daugherty reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCKDHA Louise Daugherty reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BCAP31 Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS9 Louise Daugherty reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS7 Louise Daugherty reviewed gene: BBS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS5 Louise Daugherty reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS4 Louise Daugherty reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS2 Louise Daugherty reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS12 Louise Daugherty reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS10 Louise Daugherty reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BBS1 Louise Daugherty reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BAG3 Louise Daugherty reviewed gene: BAG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BACH2 Louise Daugherty reviewed gene: BACH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 BAAT Louise Daugherty reviewed gene: BAAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B9D2 Louise Daugherty reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B4GAT1 Louise Daugherty reviewed gene: B4GAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B4GALT7 Louise Daugherty reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B4GALT1 Louise Daugherty reviewed gene: B4GALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B3GLCT Louise Daugherty reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B3GAT3 Louise Daugherty reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B3GALT6 Louise Daugherty reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B3GALNT2 Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 B2M Louise Daugherty reviewed gene: B2M: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AVPR2 Louise Daugherty reviewed gene: AVPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AUTS2 Louise Daugherty reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AUH Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATXN7 Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATXN10 Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATRX Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATR Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP8B1 Louise Daugherty reviewed gene: ATP8B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP7A Louise Daugherty reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP6V1B2 Louise Daugherty reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP6V1B1 Louise Daugherty reviewed gene: ATP6V1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP6V1A Louise Daugherty reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP6V0A2 Louise Daugherty reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP6AP1 Louise Daugherty reviewed gene: ATP6AP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP5D Louise Daugherty edited their review of gene: ATP5D: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ATP5F1D; Recommended initial gene rating: Green List (high evidence); Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, 618120 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ATP2A1 Louise Daugherty reviewed gene: ATP2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP1A1 Louise Daugherty reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATIC Louise Daugherty reviewed gene: ATIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATCAY Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATAD3A Louise Daugherty reviewed gene: ATAD3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ATAD1 Louise Daugherty reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASXL3 Louise Daugherty reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASXL2 Louise Daugherty reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASXL1 Louise Daugherty reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASS1 Louise Daugherty reviewed gene: ASS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASPM Louise Daugherty reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASPA Louise Daugherty reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASNS Louise Daugherty reviewed gene: ASNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASL Louise Daugherty reviewed gene: ASL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASH1L Louise Daugherty reviewed gene: ASH1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASCC1 Louise Daugherty reviewed gene: ASCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ASAH1 Louise Daugherty reviewed gene: ASAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARV1 Louise Daugherty reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARSE Louise Daugherty edited their review of gene: ARSE: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ARSL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Chondrodysplasia punctata, X-linked recessive, 302950 (3); Mode of inheritance: X-linked recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ARSB Louise Daugherty reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARPC1B Louise Daugherty reviewed gene: ARPC1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARMC9 Louise Daugherty reviewed gene: ARMC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARMC4 Louise Daugherty reviewed gene: ARMC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARL6 Louise Daugherty reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARL13B Louise Daugherty reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARID2 Louise Daugherty reviewed gene: ARID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARID1B Louise Daugherty reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARID1A Louise Daugherty reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARHGEF9 Louise Daugherty reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARHGDIA Louise Daugherty reviewed gene: ARHGDIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARHGAP31 Louise Daugherty reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARFGEF2 Louise Daugherty reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ARCN1 Louise Daugherty reviewed gene: ARCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AR Louise Daugherty reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APRT Louise Daugherty reviewed gene: APRT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APOE Louise Daugherty reviewed gene: APOE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APOC2 Louise Daugherty reviewed gene: APOC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APOB Louise Daugherty reviewed gene: APOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APOA5 Louise Daugherty reviewed gene: APOA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APOA1 Louise Daugherty reviewed gene: APOA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 APC Louise Daugherty reviewed gene: APC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP3D1 Louise Daugherty reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP3B2 Louise Daugherty reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP3B1 Louise Daugherty reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP2M1 Louise Daugherty reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AP1S1 Louise Daugherty reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANTXR2 Louise Daugherty reviewed gene: ANTXR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANTXR1 Louise Daugherty reviewed gene: ANTXR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANOS1 Louise Daugherty reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANO6 Louise Daugherty reviewed gene: ANO6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANO5 Louise Daugherty reviewed gene: ANO5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANO3 Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANO10 Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANKS6 Louise Daugherty reviewed gene: ANKS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANKRD26 Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANKRD11 Louise Daugherty reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANKH Louise Daugherty reviewed gene: ANKH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ANK1 Louise Daugherty reviewed gene: ANK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMT Louise Daugherty reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMN Louise Daugherty reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMMECR1 Louise Daugherty reviewed gene: AMMECR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMER1 Louise Daugherty reviewed gene: AMER1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMELX Louise Daugherty reviewed gene: AMELX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AMACR Louise Daugherty reviewed gene: AMACR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALX4 Louise Daugherty reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALX3 Louise Daugherty reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALX1 Louise Daugherty reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALPL Louise Daugherty reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALOXE3 Louise Daugherty reviewed gene: ALOXE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALOX12B Louise Daugherty reviewed gene: ALOX12B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALMS1 Louise Daugherty reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALKBH8 Louise Daugherty reviewed gene: ALKBH8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG9 Louise Daugherty reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG8 Louise Daugherty reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG6 Louise Daugherty reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG3 Louise Daugherty reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG13 Louise Daugherty reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG12 Louise Daugherty reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG11 Louise Daugherty reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALG1 Louise Daugherty reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDOB Louise Daugherty reviewed gene: ALDOB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDOA Louise Daugherty reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH7A1 Louise Daugherty reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH6A1 Louise Daugherty reviewed gene: ALDH6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH5A1 Louise Daugherty reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH4A1 Louise Daugherty reviewed gene: ALDH4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH3A2 Louise Daugherty reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH1A3 Louise Daugherty reviewed gene: ALDH1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALB Louise Daugherty reviewed gene: ALB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ALAD Louise Daugherty reviewed gene: ALAD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AKT3 Louise Daugherty reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AKT1 Louise Daugherty reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AKR1D1 Louise Daugherty reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AK2 Louise Daugherty reviewed gene: AK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AK1 Louise Daugherty reviewed gene: AK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AIRE Louise Daugherty reviewed gene: AIRE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AIPL1 Louise Daugherty reviewed gene: AIPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AIMP1 Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AIFM1 Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AICDA Louise Daugherty reviewed gene: AICDA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AHI1 Louise Daugherty reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AHDC1 Louise Daugherty reviewed gene: AHDC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGXT Louise Daugherty reviewed gene: AGXT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGTR1 Louise Daugherty reviewed gene: AGTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGT Louise Daugherty reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGRN Louise Daugherty reviewed gene: AGRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGPS Louise Daugherty reviewed gene: AGPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGL Louise Daugherty reviewed gene: AGL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGK Louise Daugherty reviewed gene: AGK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AGA Louise Daugherty reviewed gene: AGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AFF4 Louise Daugherty reviewed gene: AFF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AFF2 Louise Daugherty reviewed gene: AFF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADSL Louise Daugherty reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADPRHL2 Louise Daugherty edited their review of gene: ADPRHL2: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ADPRS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170 (3); Mode of inheritance: Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 ADNP Louise Daugherty reviewed gene: ADNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADK Louise Daugherty reviewed gene: ADK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADGRV1 Louise Daugherty reviewed gene: ADGRV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADGRG6 Louise Daugherty reviewed gene: ADGRG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADGRG1 Louise Daugherty reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADD3 Louise Daugherty reviewed gene: ADD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAT3 Louise Daugherty reviewed gene: ADAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTSL2 Louise Daugherty reviewed gene: ADAMTSL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS17 Louise Daugherty reviewed gene: ADAMTS17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS13 Louise Daugherty reviewed gene: ADAMTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADAMTS10 Louise Daugherty reviewed gene: ADAMTS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADA2 Louise Daugherty reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ADA Louise Daugherty reviewed gene: ADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACY1 Louise Daugherty reviewed gene: ACY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACVRL1 Louise Daugherty reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACVR2B Louise Daugherty reviewed gene: ACVR2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACVR1 Louise Daugherty reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTN4 Louise Daugherty reviewed gene: ACTN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTN1 Louise Daugherty reviewed gene: ACTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTL6B Louise Daugherty reviewed gene: ACTL6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTG2 Louise Daugherty reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTG1 Louise Daugherty reviewed gene: ACTG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTC1 Louise Daugherty reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTA2 Louise Daugherty reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACTA1 Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACSL4 Louise Daugherty reviewed gene: ACSL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACSF3 Louise Daugherty reviewed gene: ACSF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACP5 Louise Daugherty reviewed gene: ACP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACOX1 Louise Daugherty reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACO2 Louise Daugherty reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACE Louise Daugherty reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAT1 Louise Daugherty reviewed gene: ACAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAN Louise Daugherty reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADVL Louise Daugherty reviewed gene: ACADVL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADSB Louise Daugherty reviewed gene: ACADSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADS Louise Daugherty reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACADM Louise Daugherty reviewed gene: ACADM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAD9 Louise Daugherty reviewed gene: ACAD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ACAD8 Louise Daugherty reviewed gene: ACAD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABL1 Louise Daugherty reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABHD5 Louise Daugherty reviewed gene: ABHD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCG8 Louise Daugherty reviewed gene: ABCG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCG5 Louise Daugherty reviewed gene: ABCG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCD4 Louise Daugherty reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC9 Louise Daugherty reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC8 Louise Daugherty reviewed gene: ABCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC6 Louise Daugherty reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCC2 Louise Daugherty reviewed gene: ABCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCB4 Louise Daugherty reviewed gene: ABCB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCB11 Louise Daugherty reviewed gene: ABCB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA4 Louise Daugherty reviewed gene: ABCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA3 Louise Daugherty reviewed gene: ABCA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA12 Louise Daugherty reviewed gene: ABCA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABCA1 Louise Daugherty reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 ABAT Louise Daugherty reviewed gene: ABAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AASS Louise Daugherty reviewed gene: AASS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AARS2 Louise Daugherty reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 AARS Louise Daugherty edited their review of gene: AARS: Added comment: Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3) | Epileptic encephalopathy, early infantile, 29, 616339 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive; Changed rating: AMBER
Severe Paediatric Disorders v0.12 AAAS Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PMS2 Louise Daugherty Publications for gene PMS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS35 Louise Daugherty Publications for gene VPS35 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAF3IP2 Louise Daugherty Publications for gene TRAF3IP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFSF12 Louise Daugherty Publications for gene TNFSF12 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFRSF4 Louise Daugherty Publications for gene TNFRSF4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMO Louise Daugherty Publications for gene SMO were updated from to 30847515
Severe Paediatric Disorders v0.11 SIM1 Louise Daugherty Publications for gene SIM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SART3 Louise Daugherty Publications for gene SART3 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS15 Louise Daugherty Publications for gene RPS15 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF31 Louise Daugherty Publications for gene RNF31 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF135 Louise Daugherty Publications for gene RNF135 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRICKLE2 Louise Daugherty Publications for gene PRICKLE2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NRXN3 Louise Daugherty Publications for gene NRXN3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFAT5 Louise Daugherty Publications for gene NFAT5 were updated from to 30847515
Severe Paediatric Disorders v0.11 MUTYH Louise Daugherty Publications for gene MUTYH were updated from to 30847515
Severe Paediatric Disorders v0.11 MEN1 Louise Daugherty Publications for gene MEN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MBL2 Louise Daugherty Publications for gene MBL2 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIRREL3 Louise Daugherty Publications for gene KIRREL3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGAM Louise Daugherty Publications for gene ITGAM were updated from to 30847515
Severe Paediatric Disorders v0.11 IL22 Louise Daugherty Publications for gene IL22 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL17A Louise Daugherty Publications for gene IL17A were updated from to 30847515
Severe Paediatric Disorders v0.11 IL10 Louise Daugherty Publications for gene IL10 were updated from to 30847515
Severe Paediatric Disorders v0.11 IDH1 Louise Daugherty Publications for gene IDH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 HMGA2 Louise Daugherty Publications for gene HMGA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 GNAQ Louise Daugherty Publications for gene GNAQ were updated from to 30847515
Severe Paediatric Disorders v0.11 FPR1 Louise Daugherty Publications for gene FPR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 EZH1 Louise Daugherty Publications for gene EZH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 DRD2 Louise Daugherty Publications for gene DRD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 DCXR Louise Daugherty Publications for gene DCXR were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR4 Louise Daugherty Publications for gene CFHR4 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR3 Louise Daugherty Publications for gene CFHR3 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR2 Louise Daugherty Publications for gene CFHR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFHR1 Louise Daugherty Publications for gene CFHR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 CD46 Louise Daugherty Publications for gene CD46 were updated from to 30847515
Severe Paediatric Disorders v0.11 ATG16L1 Louise Daugherty Publications for gene ATG16L1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ACTL6A Louise Daugherty Publications for gene ACTL6A were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF292 Louise Daugherty Publications for gene ZNF292 were updated from to 30847515
Severe Paediatric Disorders v0.11 WNT3 Louise Daugherty Publications for gene WNT3 were updated from to 30847515
Severe Paediatric Disorders v0.11 WIPF1 Louise Daugherty Publications for gene WIPF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDPCP Louise Daugherty Publications for gene WDPCP were updated from to 30847515
Severe Paediatric Disorders v0.11 UROC1 Louise Daugherty Publications for gene UROC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UNC119 Louise Daugherty Publications for gene UNC119 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSEN34 Louise Daugherty Publications for gene TSEN34 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAF3 Louise Daugherty Publications for gene TRAF3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TPM4 Louise Daugherty Publications for gene TPM4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SNAP25 Louise Daugherty Publications for gene SNAP25 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A32 Louise Daugherty Publications for gene SLC25A32 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC18A2 Louise Daugherty Publications for gene SLC18A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIGMAR1 Louise Daugherty Publications for gene SIGMAR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SEMA3E Louise Daugherty Publications for gene SEMA3E were updated from to 30847515
Severe Paediatric Disorders v0.11 SCP2 Louise Daugherty Publications for gene SCP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RHOH Louise Daugherty Publications for gene RHOH were updated from to 30847515
Severe Paediatric Disorders v0.11 REEP2 Louise Daugherty Publications for gene REEP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RB1 Louise Daugherty Publications for gene RB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PTCHD1 Louise Daugherty Publications for gene PTCHD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKACG Louise Daugherty Publications for gene PRKACG were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPLA8 Louise Daugherty Publications for gene PNPLA8 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX11B Louise Daugherty Publications for gene PEX11B were updated from to 30847515
Severe Paediatric Disorders v0.11 PCK1 Louise Daugherty Publications for gene PCK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NIN Louise Daugherty Publications for gene NIN were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA2 Louise Daugherty Publications for gene NDUFA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NCF4 Louise Daugherty Publications for gene NCF4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NADK2 Louise Daugherty Publications for gene NADK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MTPAP Louise Daugherty Publications for gene MTPAP were updated from to 30847515
Severe Paediatric Disorders v0.11 MRPL44 Louise Daugherty Publications for gene MRPL44 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAP3K14 Louise Daugherty Publications for gene MAP3K14 were updated from to 30847515
Severe Paediatric Disorders v0.11 LIG1 Louise Daugherty Publications for gene LIG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LCK Louise Daugherty Publications for gene LCK were updated from to 30847515
Severe Paediatric Disorders v0.11 KIAA0753 Louise Daugherty Publications for gene KIAA0753 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNT2 Louise Daugherty Publications for gene KCNT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 IRF7 Louise Daugherty Publications for gene IRF7 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL21 Louise Daugherty Publications for gene IL21 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL17F Louise Daugherty Publications for gene IL17F were updated from to 30847515
Severe Paediatric Disorders v0.11 HYAL1 Louise Daugherty Publications for gene HYAL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 HARS2 Louise Daugherty Publications for gene HARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 GFI1 Louise Daugherty Publications for gene GFI1 were updated from to 30847515
Severe Paediatric Disorders v0.11 GAD1 Louise Daugherty Publications for gene GAD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 FRMD4A Louise Daugherty Publications for gene FRMD4A were updated from to 30847515
Severe Paediatric Disorders v0.11 FASTKD2 Louise Daugherty Publications for gene FASTKD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 DDOST Louise Daugherty Publications for gene DDOST were updated from to 30847515
Severe Paediatric Disorders v0.11 CPT1C Louise Daugherty Publications for gene CPT1C were updated from to 30847515
Severe Paediatric Disorders v0.11 COX14 Louise Daugherty Publications for gene COX14 were updated from to 30847515
Severe Paediatric Disorders v0.11 COQ7 Louise Daugherty Publications for gene COQ7 were updated from to 30847515
Severe Paediatric Disorders v0.11 CFB Louise Daugherty Publications for gene CFB were updated from to 30847515
Severe Paediatric Disorders v0.11 CDC6 Louise Daugherty Publications for gene CDC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 CASP8 Louise Daugherty Publications for gene CASP8 were updated from to 30847515
Severe Paediatric Disorders v0.11 BLNK Louise Daugherty Publications for gene BLNK were updated from to 30847515
Severe Paediatric Disorders v0.11 BCL10 Louise Daugherty Publications for gene BCL10 were updated from to 30847515
Severe Paediatric Disorders v0.11 ATPAF2 Louise Daugherty Publications for gene ATPAF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ATP8A2 Louise Daugherty Publications for gene ATP8A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 APOL1 Louise Daugherty Publications for gene APOL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ADAM17 Louise Daugherty Publications for gene ADAM17 were updated from to 30847515
Severe Paediatric Disorders v0.11 ACD Louise Daugherty Publications for gene ACD were updated from to 30847515
Severe Paediatric Disorders v0.11 ZSWIM6 Louise Daugherty Publications for gene ZSWIM6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF711 Louise Daugherty Publications for gene ZNF711 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF469 Louise Daugherty Publications for gene ZNF469 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF462 Louise Daugherty Publications for gene ZNF462 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF148 Louise Daugherty Publications for gene ZNF148 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZNF142 Louise Daugherty Publications for gene ZNF142 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZMYND11 Louise Daugherty Publications for gene ZMYND11 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZMPSTE24 Louise Daugherty Publications for gene ZMPSTE24 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZMIZ1 Louise Daugherty Publications for gene ZMIZ1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZIC3 Louise Daugherty Publications for gene ZIC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZIC2 Louise Daugherty Publications for gene ZIC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZIC1 Louise Daugherty Publications for gene ZIC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZFYVE26 Louise Daugherty Publications for gene ZFYVE26 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZFP57 Louise Daugherty Publications for gene ZFP57 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZEB2 Louise Daugherty Publications for gene ZEB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZDHHC9 Louise Daugherty Publications for gene ZDHHC9 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZC4H2 Louise Daugherty Publications for gene ZC4H2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZBTB24 Louise Daugherty Publications for gene ZBTB24 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZBTB20 Louise Daugherty Publications for gene ZBTB20 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZBTB18 Louise Daugherty Publications for gene ZBTB18 were updated from to 30847515
Severe Paediatric Disorders v0.11 ZAP70 Louise Daugherty Publications for gene ZAP70 were updated from to 30847515
Severe Paediatric Disorders v0.11 YY1 Louise Daugherty Publications for gene YY1 were updated from to 30847515
Severe Paediatric Disorders v0.11 YWHAG Louise Daugherty Publications for gene YWHAG were updated from to 30847515
Severe Paediatric Disorders v0.11 YARS2 Louise Daugherty Publications for gene YARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 XYLT2 Louise Daugherty Publications for gene XYLT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 XYLT1 Louise Daugherty Publications for gene XYLT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 XRCC4 Louise Daugherty Publications for gene XRCC4 were updated from to 30847515
Severe Paediatric Disorders v0.11 XPR1 Louise Daugherty Publications for gene XPR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 XPC Louise Daugherty Publications for gene XPC were updated from to 30847515
Severe Paediatric Disorders v0.11 XPA Louise Daugherty Publications for gene XPA were updated from to 30847515
Severe Paediatric Disorders v0.11 XIAP Louise Daugherty Publications for gene XIAP were updated from to 30847515
Severe Paediatric Disorders v0.11 XDH Louise Daugherty Publications for gene XDH were updated from to 30847515
Severe Paediatric Disorders v0.11 WWOX Louise Daugherty Publications for gene WWOX were updated from to 30847515
Severe Paediatric Disorders v0.11 WT1 Louise Daugherty Publications for gene WT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 WRN Louise Daugherty Publications for gene WRN were updated from to 30847515
Severe Paediatric Disorders v0.11 WRAP53 Louise Daugherty Publications for gene WRAP53 were updated from to 30847515
Severe Paediatric Disorders v0.11 WNT7A Louise Daugherty Publications for gene WNT7A were updated from to 30847515
Severe Paediatric Disorders v0.11 WNT5A Louise Daugherty Publications for gene WNT5A were updated from to 30847515
Severe Paediatric Disorders v0.11 WNT10B Louise Daugherty Publications for gene WNT10B were updated from to 30847515
Severe Paediatric Disorders v0.11 WNT10A Louise Daugherty Publications for gene WNT10A were updated from to 30847515
Severe Paediatric Disorders v0.11 WNT1 Louise Daugherty Publications for gene WNT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 WFS1 Louise Daugherty Publications for gene WFS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR81 Louise Daugherty Publications for gene WDR81 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR73 Louise Daugherty Publications for gene WDR73 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR62 Louise Daugherty Publications for gene WDR62 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR60 Louise Daugherty Publications for gene WDR60 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR45B Louise Daugherty Publications for gene WDR45B were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR45 Louise Daugherty Publications for gene WDR45 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR4 Louise Daugherty Publications for gene WDR4 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR37 Louise Daugherty Publications for gene WDR37 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR35 Louise Daugherty Publications for gene WDR35 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR34 Louise Daugherty Publications for gene WDR34 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR26 Louise Daugherty Publications for gene WDR26 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR19 Louise Daugherty Publications for gene WDR19 were updated from to 30847515
Severe Paediatric Disorders v0.11 WDR11 Louise Daugherty Publications for gene WDR11 were updated from to 30847515
Severe Paediatric Disorders v0.11 WASHC5 Louise Daugherty Publications for gene WASHC5 were updated from to 30847515
Severe Paediatric Disorders v0.11 WASF1 Louise Daugherty Publications for gene WASF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 WAS Louise Daugherty Publications for gene WAS were updated from to 30847515
Severe Paediatric Disorders v0.11 WARS2 Louise Daugherty Publications for gene WARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 WAC Louise Daugherty Publications for gene WAC were updated from to 30847515
Severe Paediatric Disorders v0.11 VWF Louise Daugherty Publications for gene VWF were updated from to 30847515
Severe Paediatric Disorders v0.11 VSX2 Louise Daugherty Publications for gene VSX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 VRK1 Louise Daugherty Publications for gene VRK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS53 Louise Daugherty Publications for gene VPS53 were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS45 Louise Daugherty Publications for gene VPS45 were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS33B Louise Daugherty Publications for gene VPS33B were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS13D Louise Daugherty Publications for gene VPS13D were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS13B Louise Daugherty Publications for gene VPS13B were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS13A Louise Daugherty Publications for gene VPS13A were updated from to 30847515
Severe Paediatric Disorders v0.11 VPS11 Louise Daugherty Publications for gene VPS11 were updated from to 30847515
Severe Paediatric Disorders v0.11 VMA21 Louise Daugherty Publications for gene VMA21 were updated from to 30847515
Severe Paediatric Disorders v0.11 VLDLR Louise Daugherty Publications for gene VLDLR were updated from to 30847515
Severe Paediatric Disorders v0.11 VKORC1 Louise Daugherty Publications for gene VKORC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 VIPAS39 Louise Daugherty Publications for gene VIPAS39 were updated from to 30847515
Severe Paediatric Disorders v0.11 VHL Louise Daugherty Publications for gene VHL were updated from to 30847515
Severe Paediatric Disorders v0.11 VDR Louise Daugherty Publications for gene VDR were updated from to 30847515
Severe Paediatric Disorders v0.11 VCP Louise Daugherty Publications for gene VCP were updated from to 30847515
Severe Paediatric Disorders v0.11 VCAN Louise Daugherty Publications for gene VCAN were updated from to 30847515
Severe Paediatric Disorders v0.11 VARS2 Louise Daugherty Publications for gene VARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 VARS Louise Daugherty Publications for gene VARS were updated from to 30847515
Severe Paediatric Disorders v0.11 VAMP2 Louise Daugherty Publications for gene VAMP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 VAMP1 Louise Daugherty Publications for gene VAMP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 VAC14 Louise Daugherty Publications for gene VAC14 were updated from to 30847515
Severe Paediatric Disorders v0.11 UVSSA Louise Daugherty Publications for gene UVSSA were updated from to 30847515
Severe Paediatric Disorders v0.11 USP9X Louise Daugherty Publications for gene USP9X were updated from to 30847515
Severe Paediatric Disorders v0.11 USP18 Louise Daugherty Publications for gene USP18 were updated from to 30847515
Severe Paediatric Disorders v0.11 USH2A Louise Daugherty Publications for gene USH2A were updated from to 30847515
Severe Paediatric Disorders v0.11 USH1G Louise Daugherty Publications for gene USH1G were updated from to 30847515
Severe Paediatric Disorders v0.11 USH1C Louise Daugherty Publications for gene USH1C were updated from to 30847515
Severe Paediatric Disorders v0.11 USB1 Louise Daugherty Publications for gene USB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UROS Louise Daugherty Publications for gene UROS were updated from to 30847515
Severe Paediatric Disorders v0.11 UROD Louise Daugherty Publications for gene UROD were updated from to 30847515
Severe Paediatric Disorders v0.11 UQCRB Louise Daugherty Publications for gene UQCRB were updated from to 30847515
Severe Paediatric Disorders v0.11 UQCC2 Louise Daugherty Publications for gene UQCC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 UPF3B Louise Daugherty Publications for gene UPF3B were updated from to 30847515
Severe Paediatric Disorders v0.11 UNG Louise Daugherty Publications for gene UNG were updated from to 30847515
Severe Paediatric Disorders v0.11 UNC93B1 Louise Daugherty Publications for gene UNC93B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UNC80 Louise Daugherty Publications for gene UNC80 were updated from to 30847515
Severe Paediatric Disorders v0.11 UNC13D Louise Daugherty Publications for gene UNC13D were updated from to 30847515
Severe Paediatric Disorders v0.11 UMPS Louise Daugherty Publications for gene UMPS were updated from to 30847515
Severe Paediatric Disorders v0.11 UMOD Louise Daugherty Publications for gene UMOD were updated from to 30847515
Severe Paediatric Disorders v0.11 UGT1A1 Louise Daugherty Publications for gene UGT1A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UFM1 Louise Daugherty Publications for gene UFM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UFC1 Louise Daugherty Publications for gene UFC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UCHL1 Louise Daugherty Publications for gene UCHL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UBTF Louise Daugherty Publications for gene UBTF were updated from to 30847515
Severe Paediatric Disorders v0.11 UBR1 Louise Daugherty Publications for gene UBR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UBE3B Louise Daugherty Publications for gene UBE3B were updated from to 30847515
Severe Paediatric Disorders v0.11 UBE3A Louise Daugherty Publications for gene UBE3A were updated from to 30847515
Severe Paediatric Disorders v0.11 UBE2T Louise Daugherty Publications for gene UBE2T were updated from to 30847515
Severe Paediatric Disorders v0.11 UBE2A Louise Daugherty Publications for gene UBE2A were updated from to 30847515
Severe Paediatric Disorders v0.11 UBAP1 Louise Daugherty Publications for gene UBAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 UBA5 Louise Daugherty Publications for gene UBA5 were updated from to 30847515
Severe Paediatric Disorders v0.11 UBA1 Louise Daugherty Publications for gene UBA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TYRP1 Louise Daugherty Publications for gene TYRP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TYROBP Louise Daugherty Publications for gene TYROBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TYR Louise Daugherty Publications for gene TYR were updated from to 30847515
Severe Paediatric Disorders v0.11 TYMP Louise Daugherty Publications for gene TYMP were updated from to 30847515
Severe Paediatric Disorders v0.11 TYK2 Louise Daugherty Publications for gene TYK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TXNL4A Louise Daugherty Publications for gene TXNL4A were updated from to 30847515
Severe Paediatric Disorders v0.11 TXNDC15 Louise Daugherty Publications for gene TXNDC15 were updated from to 30847515
Severe Paediatric Disorders v0.11 TWNK Louise Daugherty Publications for gene TWNK were updated from to 30847515
Severe Paediatric Disorders v0.11 TWIST2 Louise Daugherty Publications for gene TWIST2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TWIST1 Louise Daugherty Publications for gene TWIST1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUSC3 Louise Daugherty Publications for gene TUSC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUFM Louise Daugherty Publications for gene TUFM were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBGCP6 Louise Daugherty Publications for gene TUBGCP6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBGCP4 Louise Daugherty Publications for gene TUBGCP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBG1 Louise Daugherty Publications for gene TUBG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB4A Louise Daugherty Publications for gene TUBB4A were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB3 Louise Daugherty Publications for gene TUBB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB2B Louise Daugherty Publications for gene TUBB2B were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB2A Louise Daugherty Publications for gene TUBB2A were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB1 Louise Daugherty Publications for gene TUBB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBB Louise Daugherty Publications for gene TUBB were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBA8 Louise Daugherty Publications for gene TUBA8 were updated from to 30847515
Severe Paediatric Disorders v0.11 TUBA1A Louise Daugherty Publications for gene TUBA1A were updated from to 30847515
Severe Paediatric Disorders v0.11 TTR Louise Daugherty Publications for gene TTR were updated from to 30847515
Severe Paediatric Disorders v0.11 TTPA Louise Daugherty Publications for gene TTPA were updated from to 30847515
Severe Paediatric Disorders v0.11 TTN Louise Daugherty Publications for gene TTN were updated from to 30847515
Severe Paediatric Disorders v0.11 TTI2 Louise Daugherty Publications for gene TTI2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TTC8 Louise Daugherty Publications for gene TTC8 were updated from to 30847515
Severe Paediatric Disorders v0.11 TTC7A Louise Daugherty Publications for gene TTC7A were updated from to 30847515
Severe Paediatric Disorders v0.11 TTC37 Louise Daugherty Publications for gene TTC37 were updated from to 30847515
Severe Paediatric Disorders v0.11 TTC21B Louise Daugherty Publications for gene TTC21B were updated from to 30847515
Severe Paediatric Disorders v0.11 TTC19 Louise Daugherty Publications for gene TTC19 were updated from to 30847515
Severe Paediatric Disorders v0.11 TTBK2 Louise Daugherty Publications for gene TTBK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSPAN7 Louise Daugherty Publications for gene TSPAN7 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSHR Louise Daugherty Publications for gene TSHR were updated from to 30847515
Severe Paediatric Disorders v0.11 TSHB Louise Daugherty Publications for gene TSHB were updated from to 30847515
Severe Paediatric Disorders v0.11 TSFM Louise Daugherty Publications for gene TSFM were updated from to 30847515
Severe Paediatric Disorders v0.11 TSEN54 Louise Daugherty Publications for gene TSEN54 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSEN2 Louise Daugherty Publications for gene TSEN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSC2 Louise Daugherty Publications for gene TSC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TSC1 Louise Daugherty Publications for gene TSC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRRAP Louise Daugherty Publications for gene TRRAP were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPV6 Louise Daugherty Publications for gene TRPV6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPV4 Louise Daugherty Publications for gene TRPV4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPS1 Louise Daugherty Publications for gene TRPS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPM6 Louise Daugherty Publications for gene TRPM6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPM4 Louise Daugherty Publications for gene TRPM4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPM1 Louise Daugherty Publications for gene TRPM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRPC6 Louise Daugherty Publications for gene TRPC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRNT1 Louise Daugherty Publications for gene TRNT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRMU Louise Daugherty Publications for gene TRMU were updated from to 30847515
Severe Paediatric Disorders v0.11 TRMT5 Louise Daugherty Publications for gene TRMT5 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRMT10C Louise Daugherty Publications for gene TRMT10C were updated from to 30847515
Severe Paediatric Disorders v0.11 TRMT10A Louise Daugherty Publications for gene TRMT10A were updated from to 30847515
Severe Paediatric Disorders v0.11 TRMT1 Louise Daugherty Publications for gene TRMT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIT1 Louise Daugherty Publications for gene TRIT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIP4 Louise Daugherty Publications for gene TRIP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIP12 Louise Daugherty Publications for gene TRIP12 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIP11 Louise Daugherty Publications for gene TRIP11 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIOBP Louise Daugherty Publications for gene TRIOBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIO Louise Daugherty Publications for gene TRIO were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIM8 Louise Daugherty Publications for gene TRIM8 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIM71 Louise Daugherty Publications for gene TRIM71 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIM37 Louise Daugherty Publications for gene TRIM37 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRIM32 Louise Daugherty Publications for gene TRIM32 were updated from to 30847515
Severe Paediatric Disorders v0.11 TREX1 Louise Daugherty Publications for gene TREX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TREM2 Louise Daugherty Publications for gene TREM2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAPPC9 Louise Daugherty Publications for gene TRAPPC9 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAPPC2 Louise Daugherty Publications for gene TRAPPC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAPPC12 Louise Daugherty Publications for gene TRAPPC12 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAPPC11 Louise Daugherty Publications for gene TRAPPC11 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAP1 Louise Daugherty Publications for gene TRAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAK1 Louise Daugherty Publications for gene TRAK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAIP Louise Daugherty Publications for gene TRAIP were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAF7 Louise Daugherty Publications for gene TRAF7 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAF3IP1 Louise Daugherty Publications for gene TRAF3IP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TRAC Louise Daugherty Publications for gene TRAC were updated from to 30847515
Severe Paediatric Disorders v0.11 TPRKB Louise Daugherty Publications for gene TPRKB were updated from to 30847515
Severe Paediatric Disorders v0.11 TPP2 Louise Daugherty Publications for gene TPP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TPP1 Louise Daugherty Publications for gene TPP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TPO Louise Daugherty Publications for gene TPO were updated from to 30847515
Severe Paediatric Disorders v0.11 TPM3 Louise Daugherty Publications for gene TPM3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TPM2 Louise Daugherty Publications for gene TPM2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TPK1 Louise Daugherty Publications for gene TPK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TPI1 Louise Daugherty Publications for gene TPI1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TP63 Louise Daugherty Publications for gene TP63 were updated from to 30847515
Severe Paediatric Disorders v0.11 TP53RK Louise Daugherty Publications for gene TP53RK were updated from to 30847515
Severe Paediatric Disorders v0.11 TP53 Louise Daugherty Publications for gene TP53 were updated from to 30847515
Severe Paediatric Disorders v0.11 TOR1A Louise Daugherty Publications for gene TOR1A were updated from to 30847515
Severe Paediatric Disorders v0.11 TOP3A Louise Daugherty Publications for gene TOP3A were updated from to 30847515
Severe Paediatric Disorders v0.11 TOE1 Louise Daugherty Publications for gene TOE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNS2 Louise Daugherty Publications for gene TNS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNNT3 Louise Daugherty Publications for gene TNNT3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNNT1 Louise Daugherty Publications for gene TNNT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNNI2 Louise Daugherty Publications for gene TNNI2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFSF11 Louise Daugherty Publications for gene TNFSF11 were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFRSF1A Louise Daugherty Publications for gene TNFRSF1A were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFRSF13C Louise Daugherty Publications for gene TNFRSF13C were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFRSF13B Louise Daugherty Publications for gene TNFRSF13B were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFRSF11B Louise Daugherty Publications for gene TNFRSF11B were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFRSF11A Louise Daugherty Publications for gene TNFRSF11A were updated from to 30847515
Severe Paediatric Disorders v0.11 TNFAIP3 Louise Daugherty Publications for gene TNFAIP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMTC3 Louise Daugherty Publications for gene TMTC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMPRSS6 Louise Daugherty Publications for gene TMPRSS6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMPRSS3 Louise Daugherty Publications for gene TMPRSS3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMIE Louise Daugherty Publications for gene TMIE were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM94 Louise Daugherty Publications for gene TMEM94 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM70 Louise Daugherty Publications for gene TMEM70 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM67 Louise Daugherty Publications for gene TMEM67 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM43 Louise Daugherty Publications for gene TMEM43 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM38B Louise Daugherty Publications for gene TMEM38B were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM240 Louise Daugherty Publications for gene TMEM240 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM237 Louise Daugherty Publications for gene TMEM237 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM231 Louise Daugherty Publications for gene TMEM231 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM216 Louise Daugherty Publications for gene TMEM216 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM165 Louise Daugherty Publications for gene TMEM165 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM138 Louise Daugherty Publications for gene TMEM138 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM126B Louise Daugherty Publications for gene TMEM126B were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM107 Louise Daugherty Publications for gene TMEM107 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMCO1 Louise Daugherty Publications for gene TMCO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMC8 Louise Daugherty Publications for gene TMC8 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMC6 Louise Daugherty Publications for gene TMC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMC1 Louise Daugherty Publications for gene TMC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TLR3 Louise Daugherty Publications for gene TLR3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TLK2 Louise Daugherty Publications for gene TLK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TK2 Louise Daugherty Publications for gene TK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TJP2 Louise Daugherty Publications for gene TJP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TINF2 Louise Daugherty Publications for gene TINF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TIMM8A Louise Daugherty Publications for gene TIMM8A were updated from to 30847515
Severe Paediatric Disorders v0.11 TIMM50 Louise Daugherty Publications for gene TIMM50 were updated from to 30847515
Severe Paediatric Disorders v0.11 TICAM1 Louise Daugherty Publications for gene TICAM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TIA1 Louise Daugherty Publications for gene TIA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 THRB Louise Daugherty Publications for gene THRB were updated from to 30847515
Severe Paediatric Disorders v0.11 THRA Louise Daugherty Publications for gene THRA were updated from to 30847515
Severe Paediatric Disorders v0.11 THPO Louise Daugherty Publications for gene THPO were updated from to 30847515
Severe Paediatric Disorders v0.11 THOC6 Louise Daugherty Publications for gene THOC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 THOC2 Louise Daugherty Publications for gene THOC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 THBD Louise Daugherty Publications for gene THBD were updated from to 30847515
Severe Paediatric Disorders v0.11 THAP1 Louise Daugherty Publications for gene THAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TH Louise Daugherty Publications for gene TH were updated from to 30847515
Severe Paediatric Disorders v0.11 TGM6 Louise Daugherty Publications for gene TGM6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGM5 Louise Daugherty Publications for gene TGM5 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGM1 Louise Daugherty Publications for gene TGM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGIF1 Louise Daugherty Publications for gene TGIF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFBR2 Louise Daugherty Publications for gene TGFBR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFBR1 Louise Daugherty Publications for gene TGFBR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFB3 Louise Daugherty Publications for gene TGFB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFB2 Louise Daugherty Publications for gene TGFB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGFB1 Louise Daugherty Publications for gene TGFB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TGDS Louise Daugherty Publications for gene TGDS were updated from to 30847515
Severe Paediatric Disorders v0.11 TG Louise Daugherty Publications for gene TG were updated from to 30847515
Severe Paediatric Disorders v0.11 TFR2 Louise Daugherty Publications for gene TFR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TFG Louise Daugherty Publications for gene TFG were updated from to 30847515
Severe Paediatric Disorders v0.11 TFAP2B Louise Daugherty Publications for gene TFAP2B were updated from to 30847515
Severe Paediatric Disorders v0.11 TFAP2A Louise Daugherty Publications for gene TFAP2A were updated from to 30847515
Severe Paediatric Disorders v0.11 TF Louise Daugherty Publications for gene TF were updated from to 30847515
Severe Paediatric Disorders v0.11 TERT Louise Daugherty Publications for gene TERT were updated from to 30847515
Severe Paediatric Disorders v0.11 TERC Louise Daugherty Publications for gene TERC were updated from to 30847515
Severe Paediatric Disorders v0.11 TENM3 Louise Daugherty Publications for gene TENM3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TELO2 Louise Daugherty Publications for gene TELO2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TEK Louise Daugherty Publications for gene TEK were updated from to 30847515
Severe Paediatric Disorders v0.11 TECTA Louise Daugherty Publications for gene TECTA were updated from to 30847515
Severe Paediatric Disorders v0.11 TECPR2 Louise Daugherty Publications for gene TECPR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCTN3 Louise Daugherty Publications for gene TCTN3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCTN2 Louise Daugherty Publications for gene TCTN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCTN1 Louise Daugherty Publications for gene TCTN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCTEX1D2 Louise Daugherty Publications for gene TCTEX1D2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCOF1 Louise Daugherty Publications for gene TCOF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCN2 Louise Daugherty Publications for gene TCN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCIRG1 Louise Daugherty Publications for gene TCIRG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCF4 Louise Daugherty Publications for gene TCF4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCF3 Louise Daugherty Publications for gene TCF3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCF20 Louise Daugherty Publications for gene TCF20 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCF12 Louise Daugherty Publications for gene TCF12 were updated from to 30847515
Severe Paediatric Disorders v0.11 TCAP Louise Daugherty Publications for gene TCAP were updated from to 30847515
Severe Paediatric Disorders v0.11 TBXAS1 Louise Daugherty Publications for gene TBXAS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBXA2R Louise Daugherty Publications for gene TBXA2R were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX6 Louise Daugherty Publications for gene TBX6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX5 Louise Daugherty Publications for gene TBX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX4 Louise Daugherty Publications for gene TBX4 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX3 Louise Daugherty Publications for gene TBX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX22 Louise Daugherty Publications for gene TBX22 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX20 Louise Daugherty Publications for gene TBX20 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX18 Louise Daugherty Publications for gene TBX18 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX15 Louise Daugherty Publications for gene TBX15 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBX1 Louise Daugherty Publications for gene TBX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBR1 Louise Daugherty Publications for gene TBR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBP Louise Daugherty Publications for gene TBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TBL1XR1 Louise Daugherty Publications for gene TBL1XR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBK1 Louise Daugherty Publications for gene TBK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBCK Louise Daugherty Publications for gene TBCK were updated from to 30847515
Severe Paediatric Disorders v0.11 TBCE Louise Daugherty Publications for gene TBCE were updated from to 30847515
Severe Paediatric Disorders v0.11 TBCD Louise Daugherty Publications for gene TBCD were updated from to 30847515
Severe Paediatric Disorders v0.11 TBC1D24 Louise Daugherty Publications for gene TBC1D24 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBC1D23 Louise Daugherty Publications for gene TBC1D23 were updated from to 30847515
Severe Paediatric Disorders v0.11 TBC1D20 Louise Daugherty Publications for gene TBC1D20 were updated from to 30847515
Severe Paediatric Disorders v0.11 TAZ Louise Daugherty Publications for gene TAZ were updated from to 30847515
Severe Paediatric Disorders v0.11 TAT Louise Daugherty Publications for gene TAT were updated from to 30847515
Severe Paediatric Disorders v0.11 TARDBP Louise Daugherty Publications for gene TARDBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TAPT1 Louise Daugherty Publications for gene TAPT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TAPBP Louise Daugherty Publications for gene TAPBP were updated from to 30847515
Severe Paediatric Disorders v0.11 TAP2 Louise Daugherty Publications for gene TAP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TAP1 Louise Daugherty Publications for gene TAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TANGO2 Louise Daugherty Publications for gene TANGO2 were updated from to 30847515
Severe Paediatric Disorders v0.11 TALDO1 Louise Daugherty Publications for gene TALDO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TAF6 Louise Daugherty Publications for gene TAF6 were updated from to 30847515
Severe Paediatric Disorders v0.11 TAF1 Louise Daugherty Publications for gene TAF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TACO1 Louise Daugherty Publications for gene TACO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TAB2 Louise Daugherty Publications for gene TAB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SZT2 Louise Daugherty Publications for gene SZT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SYT1 Louise Daugherty Publications for gene SYT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SYP Louise Daugherty Publications for gene SYP were updated from to 30847515
Severe Paediatric Disorders v0.11 SYNJ1 Louise Daugherty Publications for gene SYNJ1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SYNGAP1 Louise Daugherty Publications for gene SYNGAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SYNE1 Louise Daugherty Publications for gene SYNE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SYN1 Louise Daugherty Publications for gene SYN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SUZ12 Louise Daugherty Publications for gene SUZ12 were updated from to 30847515
Severe Paediatric Disorders v0.11 SURF1 Louise Daugherty Publications for gene SURF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SUOX Louise Daugherty Publications for gene SUOX were updated from to 30847515
Severe Paediatric Disorders v0.11 SUMF1 Louise Daugherty Publications for gene SUMF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SUCLG1 Louise Daugherty Publications for gene SUCLG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SUCLA2 Louise Daugherty Publications for gene SUCLA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 STXBP2 Louise Daugherty Publications for gene STXBP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 STXBP1 Louise Daugherty Publications for gene STXBP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 STX1B Louise Daugherty Publications for gene STX1B were updated from to 30847515
Severe Paediatric Disorders v0.11 STX11 Louise Daugherty Publications for gene STX11 were updated from to 30847515
Severe Paediatric Disorders v0.11 STUB1 Louise Daugherty Publications for gene STUB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 STS Louise Daugherty Publications for gene STS were updated from to 30847515
Severe Paediatric Disorders v0.11 STRC Louise Daugherty Publications for gene STRC were updated from to 30847515
Severe Paediatric Disorders v0.11 STRADA Louise Daugherty Publications for gene STRADA were updated from to 30847515
Severe Paediatric Disorders v0.11 STRA6 Louise Daugherty Publications for gene STRA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 STK4 Louise Daugherty Publications for gene STK4 were updated from to 30847515
Severe Paediatric Disorders v0.11 STK11 Louise Daugherty Publications for gene STK11 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM173 Louise Daugherty Publications for gene TMEM173 were updated from to 30847515
Severe Paediatric Disorders v0.11 STIM1 Louise Daugherty Publications for gene STIM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 STIL Louise Daugherty Publications for gene STIL were updated from to 30847515
Severe Paediatric Disorders v0.11 STAT5B Louise Daugherty Publications for gene STAT5B were updated from to 30847515
Severe Paediatric Disorders v0.11 STAT3 Louise Daugherty Publications for gene STAT3 were updated from to 30847515
Severe Paediatric Disorders v0.11 STAT2 Louise Daugherty Publications for gene STAT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 STAT1 Louise Daugherty Publications for gene STAT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 STAR Louise Daugherty Publications for gene STAR were updated from to 30847515
Severe Paediatric Disorders v0.11 STAMBP Louise Daugherty Publications for gene STAMBP were updated from to 30847515
Severe Paediatric Disorders v0.11 STAG2 Louise Daugherty Publications for gene STAG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 STAG1 Louise Daugherty Publications for gene STAG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 STAC3 Louise Daugherty Publications for gene STAC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ST3GAL5 Louise Daugherty Publications for gene ST3GAL5 were updated from to 30847515
Severe Paediatric Disorders v0.11 ST3GAL3 Louise Daugherty Publications for gene ST3GAL3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SSR4 Louise Daugherty Publications for gene SSR4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SRY Louise Daugherty Publications for gene SRY were updated from to 30847515
Severe Paediatric Disorders v0.11 SRD5A3 Louise Daugherty Publications for gene SRD5A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SRD5A2 Louise Daugherty Publications for gene SRD5A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SRCAP Louise Daugherty Publications for gene SRCAP were updated from to 30847515
Severe Paediatric Disorders v0.11 SRC Louise Daugherty Publications for gene SRC were updated from to 30847515
Severe Paediatric Disorders v0.11 SQSTM1 Louise Daugherty Publications for gene SQSTM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTLC2 Louise Daugherty Publications for gene SPTLC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTLC1 Louise Daugherty Publications for gene SPTLC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTBN4 Louise Daugherty Publications for gene SPTBN4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTBN2 Louise Daugherty Publications for gene SPTBN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTB Louise Daugherty Publications for gene SPTB were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTAN1 Louise Daugherty Publications for gene SPTAN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPTA1 Louise Daugherty Publications for gene SPTA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPRED1 Louise Daugherty Publications for gene SPRED1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPR Louise Daugherty Publications for gene SPR were updated from to 30847515
Severe Paediatric Disorders v0.11 SPPL2A Louise Daugherty Publications for gene SPPL2A were updated from to 30847515
Severe Paediatric Disorders v0.11 SPINK5 Louise Daugherty Publications for gene SPINK5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPG7 Louise Daugherty Publications for gene SPG7 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPG21 Louise Daugherty Publications for gene SPG21 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPG11 Louise Daugherty Publications for gene SPG11 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPEG Louise Daugherty Publications for gene SPEG were updated from to 30847515
Severe Paediatric Disorders v0.11 SPECC1L Louise Daugherty Publications for gene SPECC1L were updated from to 30847515
Severe Paediatric Disorders v0.11 SPATA5 Louise Daugherty Publications for gene SPATA5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SPAST Louise Daugherty Publications for gene SPAST were updated from to 30847515
Severe Paediatric Disorders v0.11 SPART Louise Daugherty Publications for gene SPART were updated from to 30847515
Severe Paediatric Disorders v0.11 SPAG1 Louise Daugherty Publications for gene SPAG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SP110 Louise Daugherty Publications for gene SP110 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX9 Louise Daugherty Publications for gene SOX9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX5 Louise Daugherty Publications for gene SOX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX4 Louise Daugherty Publications for gene SOX4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX3 Louise Daugherty Publications for gene SOX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX2 Louise Daugherty Publications for gene SOX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX17 Louise Daugherty Publications for gene SOX17 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX11 Louise Daugherty Publications for gene SOX11 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOX10 Louise Daugherty Publications for gene SOX10 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOST Louise Daugherty Publications for gene SOST were updated from to 30847515
Severe Paediatric Disorders v0.11 SOS2 Louise Daugherty Publications for gene SOS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SOS1 Louise Daugherty Publications for gene SOS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SON Louise Daugherty Publications for gene SON were updated from to 30847515
Severe Paediatric Disorders v0.11 SNX14 Louise Daugherty Publications for gene SNX14 were updated from to 30847515
Severe Paediatric Disorders v0.11 SNX10 Louise Daugherty Publications for gene SNX10 were updated from to 30847515
Severe Paediatric Disorders v0.11 SNRPB Louise Daugherty Publications for gene SNRPB were updated from to 30847515
Severe Paediatric Disorders v0.11 SNORD118 Louise Daugherty Publications for gene SNORD118 were updated from to 30847515
Severe Paediatric Disorders v0.11 SNCA Louise Daugherty Publications for gene SNCA were updated from to 30847515
Severe Paediatric Disorders v0.11 SNAP29 Louise Daugherty Publications for gene SNAP29 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMS Louise Daugherty Publications for gene SMS were updated from to 30847515
Severe Paediatric Disorders v0.11 SMPX Louise Daugherty Publications for gene SMPX were updated from to 30847515
Severe Paediatric Disorders v0.11 SMPD1 Louise Daugherty Publications for gene SMPD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMOC1 Louise Daugherty Publications for gene SMOC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMN1 Louise Daugherty Publications for gene SMN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMCHD1 Louise Daugherty Publications for gene SMCHD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMC3 Louise Daugherty Publications for gene SMC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMC1A Louise Daugherty Publications for gene SMC1A were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCE1 Louise Daugherty Publications for gene SMARCE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCD1 Louise Daugherty Publications for gene SMARCD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCC2 Louise Daugherty Publications for gene SMARCC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCB1 Louise Daugherty Publications for gene SMARCB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCAL1 Louise Daugherty Publications for gene SMARCAL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCA4 Louise Daugherty Publications for gene SMARCA4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMARCA2 Louise Daugherty Publications for gene SMARCA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMAD4 Louise Daugherty Publications for gene SMAD4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SMAD3 Louise Daugherty Publications for gene SMAD3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLX4 Louise Daugherty Publications for gene SLX4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLFN14 Louise Daugherty Publications for gene SLFN14 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLCO2A1 Louise Daugherty Publications for gene SLCO2A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC9A6 Louise Daugherty Publications for gene SLC9A6 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC7A9 Louise Daugherty Publications for gene SLC7A9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC7A7 Louise Daugherty Publications for gene SLC7A7 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A9 Louise Daugherty Publications for gene SLC6A9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A8 Louise Daugherty Publications for gene SLC6A8 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A5 Louise Daugherty Publications for gene SLC6A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A3 Louise Daugherty Publications for gene SLC6A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A20 Louise Daugherty Publications for gene SLC6A20 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A19 Louise Daugherty Publications for gene SLC6A19 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A17 Louise Daugherty Publications for gene SLC6A17 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC6A1 Louise Daugherty Publications for gene SLC6A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC5A7 Louise Daugherty Publications for gene SLC5A7 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC5A5 Louise Daugherty Publications for gene SLC5A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC5A2 Louise Daugherty Publications for gene SLC5A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC5A1 Louise Daugherty Publications for gene SLC5A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC52A3 Louise Daugherty Publications for gene SLC52A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC52A2 Louise Daugherty Publications for gene SLC52A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC4A4 Louise Daugherty Publications for gene SLC4A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC4A11 Louise Daugherty Publications for gene SLC4A11 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC4A1 Louise Daugherty Publications for gene SLC4A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC46A1 Louise Daugherty Publications for gene SLC46A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC45A2 Louise Daugherty Publications for gene SLC45A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC40A1 Louise Daugherty Publications for gene SLC40A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC3A1 Louise Daugherty Publications for gene SLC3A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC39A8 Louise Daugherty Publications for gene SLC39A8 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC39A4 Louise Daugherty Publications for gene SLC39A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC39A14 Louise Daugherty Publications for gene SLC39A14 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC39A13 Louise Daugherty Publications for gene SLC39A13 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC37A4 Louise Daugherty Publications for gene SLC37A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC35D1 Louise Daugherty Publications for gene SLC35D1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC35C1 Louise Daugherty Publications for gene SLC35C1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC35A2 Louise Daugherty Publications for gene SLC35A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC35A1 Louise Daugherty Publications for gene SLC35A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC34A3 Louise Daugherty Publications for gene SLC34A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC34A2 Louise Daugherty Publications for gene SLC34A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC33A1 Louise Daugherty Publications for gene SLC33A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC30A10 Louise Daugherty Publications for gene SLC30A10 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC2A2 Louise Daugherty Publications for gene SLC2A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC2A10 Louise Daugherty Publications for gene SLC2A10 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC2A1 Louise Daugherty Publications for gene SLC2A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC29A3 Louise Daugherty Publications for gene SLC29A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC27A4 Louise Daugherty Publications for gene SLC27A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC26A4 Louise Daugherty Publications for gene SLC26A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC26A3 Louise Daugherty Publications for gene SLC26A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC26A2 Louise Daugherty Publications for gene SLC26A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A46 Louise Daugherty Publications for gene SLC25A46 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A42 Louise Daugherty Publications for gene SLC25A42 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A4 Louise Daugherty Publications for gene SLC25A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A38 Louise Daugherty Publications for gene SLC25A38 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A3 Louise Daugherty Publications for gene SLC25A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A26 Louise Daugherty Publications for gene SLC25A26 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A24 Louise Daugherty Publications for gene SLC25A24 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A22 Louise Daugherty Publications for gene SLC25A22 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A20 Louise Daugherty Publications for gene SLC25A20 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A19 Louise Daugherty Publications for gene SLC25A19 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A15 Louise Daugherty Publications for gene SLC25A15 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A13 Louise Daugherty Publications for gene SLC25A13 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A12 Louise Daugherty Publications for gene SLC25A12 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC25A1 Louise Daugherty Publications for gene SLC25A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC22A5 Louise Daugherty Publications for gene SLC22A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC20A2 Louise Daugherty Publications for gene SLC20A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC1A4 Louise Daugherty Publications for gene SLC1A4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC1A3 Louise Daugherty Publications for gene SLC1A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC1A2 Louise Daugherty Publications for gene SLC1A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC19A3 Louise Daugherty Publications for gene SLC19A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC19A2 Louise Daugherty Publications for gene SLC19A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC18A3 Louise Daugherty Publications for gene SLC18A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC17A5 Louise Daugherty Publications for gene SLC17A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC16A2 Louise Daugherty Publications for gene SLC16A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC16A1 Louise Daugherty Publications for gene SLC16A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC13A5 Louise Daugherty Publications for gene SLC13A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC12A6 Louise Daugherty Publications for gene SLC12A6 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC12A5 Louise Daugherty Publications for gene SLC12A5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC12A3 Louise Daugherty Publications for gene SLC12A3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC12A1 Louise Daugherty Publications for gene SLC12A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC11A2 Louise Daugherty Publications for gene SLC11A2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SLC10A7 Louise Daugherty Publications for gene SLC10A7 were updated from to 30847515
Severe Paediatric Disorders v0.11 SKIV2L Louise Daugherty Publications for gene SKIV2L were updated from to 30847515
Severe Paediatric Disorders v0.11 SKI Louise Daugherty Publications for gene SKI were updated from to 30847515
Severe Paediatric Disorders v0.11 SIX5 Louise Daugherty Publications for gene SIX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIX3 Louise Daugherty Publications for gene SIX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIX1 Louise Daugherty Publications for gene SIX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIN3A Louise Daugherty Publications for gene SIN3A were updated from to 30847515
Severe Paediatric Disorders v0.11 SIL1 Louise Daugherty Publications for gene SIL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SIK1 Louise Daugherty Publications for gene SIK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SI Louise Daugherty Publications for gene SI were updated from to 30847515
Severe Paediatric Disorders v0.11 SHOX Louise Daugherty Publications for gene SHOX were updated from to 30847515
Severe Paediatric Disorders v0.11 SHOC2 Louise Daugherty Publications for gene SHOC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SHH Louise Daugherty Publications for gene SHH were updated from to 30847515
Severe Paediatric Disorders v0.11 SHANK3 Louise Daugherty Publications for gene SHANK3 were updated from to 30847515
Severe Paediatric Disorders v0.11 SHANK2 Louise Daugherty Publications for gene SHANK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SH3TC2 Louise Daugherty Publications for gene SH3TC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SH3PXD2B Louise Daugherty Publications for gene SH3PXD2B were updated from to 30847515
Severe Paediatric Disorders v0.11 SH3BP2 Louise Daugherty Publications for gene SH3BP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SH2D1A Louise Daugherty Publications for gene SH2D1A were updated from to 30847515
Severe Paediatric Disorders v0.11 SGSH Louise Daugherty Publications for gene SGSH were updated from to 30847515
Severe Paediatric Disorders v0.11 SGPL1 Louise Daugherty Publications for gene SGPL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SGCG Louise Daugherty Publications for gene SGCG were updated from to 30847515
Severe Paediatric Disorders v0.11 SGCE Louise Daugherty Publications for gene SGCE were updated from to 30847515
Severe Paediatric Disorders v0.11 SGCD Louise Daugherty Publications for gene SGCD were updated from to 30847515
Severe Paediatric Disorders v0.11 SGCB Louise Daugherty Publications for gene SGCB were updated from to 30847515
Severe Paediatric Disorders v0.11 SGCA Louise Daugherty Publications for gene SGCA were updated from to 30847515
Severe Paediatric Disorders v0.11 SFXN4 Louise Daugherty Publications for gene SFXN4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SFTPB Louise Daugherty Publications for gene SFTPB were updated from to 30847515
Severe Paediatric Disorders v0.11 SFRP4 Louise Daugherty Publications for gene SFRP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SF3B4 Louise Daugherty Publications for gene SF3B4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SETX Louise Daugherty Publications for gene SETX were updated from to 30847515
Severe Paediatric Disorders v0.11 SETD5 Louise Daugherty Publications for gene SETD5 were updated from to 30847515
Severe Paediatric Disorders v0.11 SETD2 Louise Daugherty Publications for gene SETD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SETD1B Louise Daugherty Publications for gene SETD1B were updated from to 30847515
Severe Paediatric Disorders v0.11 SETBP1 Louise Daugherty Publications for gene SETBP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SET Louise Daugherty Publications for gene SET were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPINH1 Louise Daugherty Publications for gene SERPINH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPING1 Louise Daugherty Publications for gene SERPING1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPINF2 Louise Daugherty Publications for gene SERPINF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPINF1 Louise Daugherty Publications for gene SERPINF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERPINE1 Louise Daugherty Publications for gene SERPINE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SERAC1 Louise Daugherty Publications for gene SERAC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SEPT9 Louise Daugherty Publications for gene SEPT9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SEPSECS Louise Daugherty Publications for gene SEPSECS were updated from to 30847515
Severe Paediatric Disorders v0.11 SELENON Louise Daugherty Publications for gene SELENON were updated from to 30847515
Severe Paediatric Disorders v0.11 SEC24D Louise Daugherty Publications for gene SEC24D were updated from to 30847515
Severe Paediatric Disorders v0.11 SEC23B Louise Daugherty Publications for gene SEC23B were updated from to 30847515
Severe Paediatric Disorders v0.11 SDHD Louise Daugherty Publications for gene SDHD were updated from to 30847515
Severe Paediatric Disorders v0.11 SDHB Louise Daugherty Publications for gene SDHB were updated from to 30847515
Severe Paediatric Disorders v0.11 SDHAF1 Louise Daugherty Publications for gene SDHAF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SDHA Louise Daugherty Publications for gene SDHA were updated from to 30847515
Severe Paediatric Disorders v0.11 SDCCAG8 Louise Daugherty Publications for gene SDCCAG8 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCO2 Louise Daugherty Publications for gene SCO2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCO1 Louise Daugherty Publications for gene SCO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCNN1B Louise Daugherty Publications for gene SCNN1B were updated from to 30847515
Severe Paediatric Disorders v0.11 SCNN1A Louise Daugherty Publications for gene SCNN1A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN9A Louise Daugherty Publications for gene SCN9A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN8A Louise Daugherty Publications for gene SCN8A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN4A Louise Daugherty Publications for gene SCN4A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN3A Louise Daugherty Publications for gene SCN3A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN2A Louise Daugherty Publications for gene SCN2A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN1B Louise Daugherty Publications for gene SCN1B were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN1A Louise Daugherty Publications for gene SCN1A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCN11A Louise Daugherty Publications for gene SCN11A were updated from to 30847515
Severe Paediatric Disorders v0.11 SCLT1 Louise Daugherty Publications for gene SCLT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCARF2 Louise Daugherty Publications for gene SCARF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCARB2 Louise Daugherty Publications for gene SCARB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SCAPER Louise Daugherty Publications for gene SCAPER were updated from to 30847515
Severe Paediatric Disorders v0.11 SC5D Louise Daugherty Publications for gene SC5D were updated from to 30847515
Severe Paediatric Disorders v0.11 SBF2 Louise Daugherty Publications for gene SBF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SBF1 Louise Daugherty Publications for gene SBF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SBDS Louise Daugherty Publications for gene SBDS were updated from to 30847515
Severe Paediatric Disorders v0.11 SATB2 Louise Daugherty Publications for gene SATB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SARS2 Louise Daugherty Publications for gene SARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 SAR1B Louise Daugherty Publications for gene SAR1B were updated from to 30847515
Severe Paediatric Disorders v0.11 SAMHD1 Louise Daugherty Publications for gene SAMHD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SAMD9L Louise Daugherty Publications for gene SAMD9L were updated from to 30847515
Severe Paediatric Disorders v0.11 SAMD9 Louise Daugherty Publications for gene SAMD9 were updated from to 30847515
Severe Paediatric Disorders v0.11 SAMD12 Louise Daugherty Publications for gene SAMD12 were updated from to 30847515
Severe Paediatric Disorders v0.11 SALL4 Louise Daugherty Publications for gene SALL4 were updated from to 30847515
Severe Paediatric Disorders v0.11 SALL1 Louise Daugherty Publications for gene SALL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 SACS Louise Daugherty Publications for gene SACS were updated from to 30847515
Severe Paediatric Disorders v0.11 RYR2 Louise Daugherty Publications for gene RYR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RYR1 Louise Daugherty Publications for gene RYR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 TMEM5 Louise Daugherty Publications for gene TMEM5 were updated from to 30847515
Severe Paediatric Disorders v0.11 RUNX2 Louise Daugherty Publications for gene RUNX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RUNX1 Louise Daugherty Publications for gene RUNX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RTTN Louise Daugherty Publications for gene RTTN were updated from to 30847515
Severe Paediatric Disorders v0.11 RTN4IP1 Louise Daugherty Publications for gene RTN4IP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RTN2 Louise Daugherty Publications for gene RTN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RTEL1 Louise Daugherty Publications for gene RTEL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RSPO4 Louise Daugherty Publications for gene RSPO4 were updated from to 30847515
Severe Paediatric Disorders v0.11 RSPH9 Louise Daugherty Publications for gene RSPH9 were updated from to 30847515
Severe Paediatric Disorders v0.11 RSPH4A Louise Daugherty Publications for gene RSPH4A were updated from to 30847515
Severe Paediatric Disorders v0.11 RSPH3 Louise Daugherty Publications for gene RSPH3 were updated from to 30847515
Severe Paediatric Disorders v0.11 RSPH1 Louise Daugherty Publications for gene RSPH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RS1 Louise Daugherty Publications for gene RS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RRM2B Louise Daugherty Publications for gene RRM2B were updated from to 30847515
Severe Paediatric Disorders v0.11 RPSA Louise Daugherty Publications for gene RPSA were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS7 Louise Daugherty Publications for gene RPS7 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS6KA3 Louise Daugherty Publications for gene RPS6KA3 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS26 Louise Daugherty Publications for gene RPS26 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS24 Louise Daugherty Publications for gene RPS24 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS19 Louise Daugherty Publications for gene RPS19 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS17 Louise Daugherty Publications for gene RPS17 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPS10 Louise Daugherty Publications for gene RPS10 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPL5 Louise Daugherty Publications for gene RPL5 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPL35A Louise Daugherty Publications for gene RPL35A were updated from to 30847515
Severe Paediatric Disorders v0.11 RPL11 Louise Daugherty Publications for gene RPL11 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPL10 Louise Daugherty Publications for gene RPL10 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPIA Louise Daugherty Publications for gene RPIA were updated from to 30847515
Severe Paediatric Disorders v0.11 RPGRIP1L Louise Daugherty Publications for gene RPGRIP1L were updated from to 30847515
Severe Paediatric Disorders v0.11 RPGRIP1 Louise Daugherty Publications for gene RPGRIP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RPGR Louise Daugherty Publications for gene RPGR were updated from to 30847515
Severe Paediatric Disorders v0.11 RPE65 Louise Daugherty Publications for gene RPE65 were updated from to 30847515
Severe Paediatric Disorders v0.11 RORC Louise Daugherty Publications for gene RORC were updated from to 30847515
Severe Paediatric Disorders v0.11 RORB Louise Daugherty Publications for gene RORB were updated from to 30847515
Severe Paediatric Disorders v0.11 RORA Louise Daugherty Publications for gene RORA were updated from to 30847515
Severe Paediatric Disorders v0.11 ROR2 Louise Daugherty Publications for gene ROR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ROGDI Louise Daugherty Publications for gene ROGDI were updated from to 30847515
Severe Paediatric Disorders v0.11 ROBO3 Louise Daugherty Publications for gene ROBO3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ROBO1 Louise Daugherty Publications for gene ROBO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNU4ATAC Louise Daugherty Publications for gene RNU4ATAC were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF216 Louise Daugherty Publications for gene RNF216 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF170 Louise Daugherty Publications for gene RNF170 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF168 Louise Daugherty Publications for gene RNF168 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNF125 Louise Daugherty Publications for gene RNF125 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNASET2 Louise Daugherty Publications for gene RNASET2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RNASEH2C Louise Daugherty Publications for gene RNASEH2C were updated from to 30847515
Severe Paediatric Disorders v0.11 RNASEH2B Louise Daugherty Publications for gene RNASEH2B were updated from to 30847515
Severe Paediatric Disorders v0.11 RNASEH2A Louise Daugherty Publications for gene RNASEH2A were updated from to 30847515
Severe Paediatric Disorders v0.11 RNASEH1 Louise Daugherty Publications for gene RNASEH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RMRP Louise Daugherty Publications for gene RMRP were updated from to 30847515
Severe Paediatric Disorders v0.11 RMND1 Louise Daugherty Publications for gene RMND1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RLIM Louise Daugherty Publications for gene RLIM were updated from to 30847515
Severe Paediatric Disorders v0.11 RIT1 Louise Daugherty Publications for gene RIT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RIPK4 Louise Daugherty Publications for gene RIPK4 were updated from to 30847515
Severe Paediatric Disorders v0.11 RIPK1 Louise Daugherty Publications for gene RIPK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RHOBTB2 Louise Daugherty Publications for gene RHOBTB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RHAG Louise Daugherty Publications for gene RHAG were updated from to 30847515
Severe Paediatric Disorders v0.11 RFXAP Louise Daugherty Publications for gene RFXAP were updated from to 30847515
Severe Paediatric Disorders v0.11 RFXANK Louise Daugherty Publications for gene RFXANK were updated from to 30847515
Severe Paediatric Disorders v0.11 RFX6 Louise Daugherty Publications for gene RFX6 were updated from to 30847515
Severe Paediatric Disorders v0.11 RFX5 Louise Daugherty Publications for gene RFX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 RFT1 Louise Daugherty Publications for gene RFT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RETREG1 Louise Daugherty Publications for gene RETREG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RET Louise Daugherty Publications for gene RET were updated from to 30847515
Severe Paediatric Disorders v0.11 RERE Louise Daugherty Publications for gene RERE were updated from to 30847515
Severe Paediatric Disorders v0.11 REN Louise Daugherty Publications for gene REN were updated from to 30847515
Severe Paediatric Disorders v0.11 RELN Louise Daugherty Publications for gene RELN were updated from to 30847515
Severe Paediatric Disorders v0.11 REEP1 Louise Daugherty Publications for gene REEP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RECQL4 Louise Daugherty Publications for gene RECQL4 were updated from to 30847515
Severe Paediatric Disorders v0.11 RBPJ Louise Daugherty Publications for gene RBPJ were updated from to 30847515
Severe Paediatric Disorders v0.11 RBM8A Louise Daugherty Publications for gene RBM8A were updated from to 30847515
Severe Paediatric Disorders v0.11 RBM10 Louise Daugherty Publications for gene RBM10 were updated from to 30847515
Severe Paediatric Disorders v0.11 RBCK1 Louise Daugherty Publications for gene RBCK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RBBP8 Louise Daugherty Publications for gene RBBP8 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAX Louise Daugherty Publications for gene RAX were updated from to 30847515
Severe Paediatric Disorders v0.11 RASGRP2 Louise Daugherty Publications for gene RASGRP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RASGRP1 Louise Daugherty Publications for gene RASGRP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RASA1 Louise Daugherty Publications for gene RASA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RARS2 Louise Daugherty Publications for gene RARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RARS Louise Daugherty Publications for gene RARS were updated from to 30847515
Severe Paediatric Disorders v0.11 RARB Louise Daugherty Publications for gene RARB were updated from to 30847515
Severe Paediatric Disorders v0.11 RAPSN Louise Daugherty Publications for gene RAPSN were updated from to 30847515
Severe Paediatric Disorders v0.11 RALA Louise Daugherty Publications for gene RALA were updated from to 30847515
Severe Paediatric Disorders v0.11 RAI1 Louise Daugherty Publications for gene RAI1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAG2 Louise Daugherty Publications for gene RAG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAG1 Louise Daugherty Publications for gene RAG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAF1 Louise Daugherty Publications for gene RAF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAD21 Louise Daugherty Publications for gene RAD21 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAC3 Louise Daugherty Publications for gene RAC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAC2 Louise Daugherty Publications for gene RAC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAC1 Louise Daugherty Publications for gene RAC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB7A Louise Daugherty Publications for gene RAB7A were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB3GAP2 Louise Daugherty Publications for gene RAB3GAP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB3GAP1 Louise Daugherty Publications for gene RAB3GAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB39B Louise Daugherty Publications for gene RAB39B were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB33B Louise Daugherty Publications for gene RAB33B were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB27A Louise Daugherty Publications for gene RAB27A were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB23 Louise Daugherty Publications for gene RAB23 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB18 Louise Daugherty Publications for gene RAB18 were updated from to 30847515
Severe Paediatric Disorders v0.11 RAB11B Louise Daugherty Publications for gene RAB11B were updated from to 30847515
Severe Paediatric Disorders v0.11 QRSL1 Louise Daugherty Publications for gene QRSL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 QRICH1 Louise Daugherty Publications for gene QRICH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 QDPR Louise Daugherty Publications for gene QDPR were updated from to 30847515
Severe Paediatric Disorders v0.11 QARS Louise Daugherty Publications for gene QARS were updated from to 30847515
Severe Paediatric Disorders v0.11 PYGM Louise Daugherty Publications for gene PYGM were updated from to 30847515
Severe Paediatric Disorders v0.11 PYGL Louise Daugherty Publications for gene PYGL were updated from to 30847515
Severe Paediatric Disorders v0.11 PYCR2 Louise Daugherty Publications for gene PYCR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PYCR1 Louise Daugherty Publications for gene PYCR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PUS7 Louise Daugherty Publications for gene PUS7 were updated from to 30847515
Severe Paediatric Disorders v0.11 PUS3 Louise Daugherty Publications for gene PUS3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PUS1 Louise Daugherty Publications for gene PUS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PURA Louise Daugherty Publications for gene PURA were updated from to 30847515
Severe Paediatric Disorders v0.11 PUM1 Louise Daugherty Publications for gene PUM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PUF60 Louise Daugherty Publications for gene PUF60 were updated from to 30847515
Severe Paediatric Disorders v0.11 PTS Louise Daugherty Publications for gene PTS were updated from to 30847515
Severe Paediatric Disorders v0.11 PTPRC Louise Daugherty Publications for gene PTPRC were updated from to 30847515
Severe Paediatric Disorders v0.11 PTPN23 Louise Daugherty Publications for gene PTPN23 were updated from to 30847515
Severe Paediatric Disorders v0.11 PTPN11 Louise Daugherty Publications for gene PTPN11 were updated from to 30847515
Severe Paediatric Disorders v0.11 PTHLH Louise Daugherty Publications for gene PTHLH were updated from to 30847515
Severe Paediatric Disorders v0.11 PTH1R Louise Daugherty Publications for gene PTH1R were updated from to 30847515
Severe Paediatric Disorders v0.11 PTF1A Louise Daugherty Publications for gene PTF1A were updated from to 30847515
Severe Paediatric Disorders v0.11 PTEN Louise Daugherty Publications for gene PTEN were updated from to 30847515
Severe Paediatric Disorders v0.11 PTDSS1 Louise Daugherty Publications for gene PTDSS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PTCH1 Louise Daugherty Publications for gene PTCH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PSTPIP1 Louise Daugherty Publications for gene PSTPIP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PSPH Louise Daugherty Publications for gene PSPH were updated from to 30847515
Severe Paediatric Disorders v0.11 PSMD12 Louise Daugherty Publications for gene PSMD12 were updated from to 30847515
Severe Paediatric Disorders v0.11 PSMB8 Louise Daugherty Publications for gene PSMB8 were updated from to 30847515
Severe Paediatric Disorders v0.11 PSEN1 Louise Daugherty Publications for gene PSEN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PSAT1 Louise Daugherty Publications for gene PSAT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PSAP Louise Daugherty Publications for gene PSAP were updated from to 30847515
Severe Paediatric Disorders v0.11 PRX Louise Daugherty Publications for gene PRX were updated from to 30847515
Severe Paediatric Disorders v0.11 PRUNE1 Louise Daugherty Publications for gene PRUNE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRSS56 Louise Daugherty Publications for gene PRSS56 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRSS12 Louise Daugherty Publications for gene PRSS12 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRRT2 Louise Daugherty Publications for gene PRRT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRR12 Louise Daugherty Publications for gene PRR12 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRPS1 Louise Daugherty Publications for gene PRPS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PROS1 Louise Daugherty Publications for gene PROS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PROP1 Louise Daugherty Publications for gene PROP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PROKR2 Louise Daugherty Publications for gene PROKR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRODH Louise Daugherty Publications for gene PRODH were updated from to 30847515
Severe Paediatric Disorders v0.11 PROC Louise Daugherty Publications for gene PROC were updated from to 30847515
Severe Paediatric Disorders v0.11 PRNP Louise Daugherty Publications for gene PRNP were updated from to 30847515
Severe Paediatric Disorders v0.11 PRMT7 Louise Daugherty Publications for gene PRMT7 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKRA Louise Daugherty Publications for gene PRKRA were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKN Louise Daugherty Publications for gene PRKN were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKDC Louise Daugherty Publications for gene PRKDC were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKD1 Louise Daugherty Publications for gene PRKD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKCG Louise Daugherty Publications for gene PRKCG were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKCD Louise Daugherty Publications for gene PRKCD were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKAR1A Louise Daugherty Publications for gene PRKAR1A were updated from to 30847515
Severe Paediatric Disorders v0.11 PRKAG2 Louise Daugherty Publications for gene PRKAG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRICKLE1 Louise Daugherty Publications for gene PRICKLE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRG4 Louise Daugherty Publications for gene PRG4 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRF1 Louise Daugherty Publications for gene PRF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PRDM12 Louise Daugherty Publications for gene PRDM12 were updated from to 30847515
Severe Paediatric Disorders v0.11 PQBP1 Louise Daugherty Publications for gene PQBP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PPT1 Louise Daugherty Publications for gene PPT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP3CA Louise Daugherty Publications for gene PPP3CA were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP2R5D Louise Daugherty Publications for gene PPP2R5D were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP2R2B Louise Daugherty Publications for gene PPP2R2B were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP2R1A Louise Daugherty Publications for gene PPP2R1A were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP2CA Louise Daugherty Publications for gene PPP2CA were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP1R21 Louise Daugherty Publications for gene PPP1R21 were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP1R15B Louise Daugherty Publications for gene PPP1R15B were updated from to 30847515
Severe Paediatric Disorders v0.11 PPP1CB Louise Daugherty Publications for gene PPP1CB were updated from to 30847515
Severe Paediatric Disorders v0.11 PPOX Louise Daugherty Publications for gene PPOX were updated from to 30847515
Severe Paediatric Disorders v0.11 PPM1D Louise Daugherty Publications for gene PPM1D were updated from to 30847515
Severe Paediatric Disorders v0.11 PPIB Louise Daugherty Publications for gene PPIB were updated from to 30847515
Severe Paediatric Disorders v0.11 PPA2 Louise Daugherty Publications for gene PPA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 POU4F3 Louise Daugherty Publications for gene POU4F3 were updated from to 30847515
Severe Paediatric Disorders v0.11 POU3F4 Louise Daugherty Publications for gene POU3F4 were updated from to 30847515
Severe Paediatric Disorders v0.11 POU3F3 Louise Daugherty Publications for gene POU3F3 were updated from to 30847515
Severe Paediatric Disorders v0.11 POU1F1 Louise Daugherty Publications for gene POU1F1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PORCN Louise Daugherty Publications for gene PORCN were updated from to 30847515
Severe Paediatric Disorders v0.11 POR Louise Daugherty Publications for gene POR were updated from to 30847515
Severe Paediatric Disorders v0.11 POP1 Louise Daugherty Publications for gene POP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 POMT2 Louise Daugherty Publications for gene POMT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 POMT1 Louise Daugherty Publications for gene POMT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 POMK Louise Daugherty Publications for gene POMK were updated from to 30847515
Severe Paediatric Disorders v0.11 POMGNT2 Louise Daugherty Publications for gene POMGNT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 POMGNT1 Louise Daugherty Publications for gene POMGNT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 POLR3B Louise Daugherty Publications for gene POLR3B were updated from to 30847515
Severe Paediatric Disorders v0.11 POLR3A Louise Daugherty Publications for gene POLR3A were updated from to 30847515
Severe Paediatric Disorders v0.11 POLR2A Louise Daugherty Publications for gene POLR2A were updated from to 30847515
Severe Paediatric Disorders v0.11 POLR1D Louise Daugherty Publications for gene POLR1D were updated from to 30847515
Severe Paediatric Disorders v0.11 POLR1C Louise Daugherty Publications for gene POLR1C were updated from to 30847515
Severe Paediatric Disorders v0.11 POLR1A Louise Daugherty Publications for gene POLR1A were updated from to 30847515
Severe Paediatric Disorders v0.11 POLH Louise Daugherty Publications for gene POLH were updated from to 30847515
Severe Paediatric Disorders v0.11 POLG2 Louise Daugherty Publications for gene POLG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 POLG Louise Daugherty Publications for gene POLG were updated from to 30847515
Severe Paediatric Disorders v0.11 POLE Louise Daugherty Publications for gene POLE were updated from to 30847515
Severe Paediatric Disorders v0.11 POLD1 Louise Daugherty Publications for gene POLD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 POLA1 Louise Daugherty Publications for gene POLA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 POGZ Louise Daugherty Publications for gene POGZ were updated from to 30847515
Severe Paediatric Disorders v0.11 POC1B Louise Daugherty Publications for gene POC1B were updated from to 30847515
Severe Paediatric Disorders v0.11 POC1A Louise Daugherty Publications for gene POC1A were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPT1 Louise Daugherty Publications for gene PNPT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPO Louise Daugherty Publications for gene PNPO were updated from to 30847515
Severe Paediatric Disorders v0.11 PNPLA6 Louise Daugherty Publications for gene PNPLA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PNP Louise Daugherty Publications for gene PNP were updated from to 30847515
Severe Paediatric Disorders v0.11 PNKP Louise Daugherty Publications for gene PNKP were updated from to 30847515
Severe Paediatric Disorders v0.11 PNKD Louise Daugherty Publications for gene PNKD were updated from to 30847515
Severe Paediatric Disorders v0.11 PMPCB Louise Daugherty Publications for gene PMPCB were updated from to 30847515
Severe Paediatric Disorders v0.11 PMPCA Louise Daugherty Publications for gene PMPCA were updated from to 30847515
Severe Paediatric Disorders v0.11 PMP22 Louise Daugherty Publications for gene PMP22 were updated from to 30847515
Severe Paediatric Disorders v0.11 PMM2 Louise Daugherty Publications for gene PMM2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLS3 Louise Daugherty Publications for gene PLS3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLPBP Louise Daugherty Publications for gene PLPBP were updated from to 30847515
Severe Paediatric Disorders v0.11 PLP1 Louise Daugherty Publications for gene PLP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLOD2 Louise Daugherty Publications for gene PLOD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLOD1 Louise Daugherty Publications for gene PLOD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLK4 Louise Daugherty Publications for gene PLK4 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLG Louise Daugherty Publications for gene PLG were updated from to 30847515
Severe Paediatric Disorders v0.11 PLEC Louise Daugherty Publications for gene PLEC were updated from to 30847515
Severe Paediatric Disorders v0.11 PLCG2 Louise Daugherty Publications for gene PLCG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLCE1 Louise Daugherty Publications for gene PLCE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLCB1 Louise Daugherty Publications for gene PLCB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLAU Louise Daugherty Publications for gene PLAU were updated from to 30847515
Severe Paediatric Disorders v0.11 PLAA Louise Daugherty Publications for gene PLAA were updated from to 30847515
Severe Paediatric Disorders v0.11 PLA2G6 Louise Daugherty Publications for gene PLA2G6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PLA2G4A Louise Daugherty Publications for gene PLA2G4A were updated from to 30847515
Severe Paediatric Disorders v0.11 PKLR Louise Daugherty Publications for gene PKLR were updated from to 30847515
Severe Paediatric Disorders v0.11 PKHD1 Louise Daugherty Publications for gene PKHD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PKD2 Louise Daugherty Publications for gene PKD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PKD1L1 Louise Daugherty Publications for gene PKD1L1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PKD1 Louise Daugherty Publications for gene PKD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 DFNB59 Louise Daugherty Publications for gene DFNB59 were updated from to 30847515
Severe Paediatric Disorders v0.11 PITX3 Louise Daugherty Publications for gene PITX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PITX2 Louise Daugherty Publications for gene PITX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PITX1 Louise Daugherty Publications for gene PITX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PITRM1 Louise Daugherty Publications for gene PITRM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PINK1 Louise Daugherty Publications for gene PINK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PIK3R2 Louise Daugherty Publications for gene PIK3R2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PIK3R1 Louise Daugherty Publications for gene PIK3R1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PIK3CD Louise Daugherty Publications for gene PIK3CD were updated from to 30847515
Severe Paediatric Disorders v0.11 PIK3CA Louise Daugherty Publications for gene PIK3CA were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGW Louise Daugherty Publications for gene PIGW were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGV Louise Daugherty Publications for gene PIGV were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGU Louise Daugherty Publications for gene PIGU were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGT Louise Daugherty Publications for gene PIGT were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGQ Louise Daugherty Publications for gene PIGQ were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGO Louise Daugherty Publications for gene PIGO were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGN Louise Daugherty Publications for gene PIGN were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGL Louise Daugherty Publications for gene PIGL were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGH Louise Daugherty Publications for gene PIGH were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGG Louise Daugherty Publications for gene PIGG were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGC Louise Daugherty Publications for gene PIGC were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGB Louise Daugherty Publications for gene PIGB were updated from to 30847515
Severe Paediatric Disorders v0.11 PIGA Louise Daugherty Publications for gene PIGA were updated from to 30847515
Severe Paediatric Disorders v0.11 PIEZO2 Louise Daugherty Publications for gene PIEZO2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PIEZO1 Louise Daugherty Publications for gene PIEZO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHYH Louise Daugherty Publications for gene PHYH were updated from to 30847515
Severe Paediatric Disorders v0.11 PHOX2B Louise Daugherty Publications for gene PHOX2B were updated from to 30847515
Severe Paediatric Disorders v0.11 PHKG2 Louise Daugherty Publications for gene PHKG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHKB Louise Daugherty Publications for gene PHKB were updated from to 30847515
Severe Paediatric Disorders v0.11 PHKA2 Louise Daugherty Publications for gene PHKA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHKA1 Louise Daugherty Publications for gene PHKA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHIP Louise Daugherty Publications for gene PHIP were updated from to 30847515
Severe Paediatric Disorders v0.11 PHGDH Louise Daugherty Publications for gene PHGDH were updated from to 30847515
Severe Paediatric Disorders v0.11 PHF8 Louise Daugherty Publications for gene PHF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHF6 Louise Daugherty Publications for gene PHF6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PHF21A Louise Daugherty Publications for gene PHF21A were updated from to 30847515
Severe Paediatric Disorders v0.11 PHEX Louise Daugherty Publications for gene PHEX were updated from to 30847515
Severe Paediatric Disorders v0.11 PHACTR1 Louise Daugherty Publications for gene PHACTR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGM3 Louise Daugherty Publications for gene PGM3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGM1 Louise Daugherty Publications for gene PGM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGK1 Louise Daugherty Publications for gene PGK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGAP3 Louise Daugherty Publications for gene PGAP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGAP2 Louise Daugherty Publications for gene PGAP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGAP1 Louise Daugherty Publications for gene PGAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PGAM2 Louise Daugherty Publications for gene PGAM2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PFKM Louise Daugherty Publications for gene PFKM were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX7 Louise Daugherty Publications for gene PEX7 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX6 Louise Daugherty Publications for gene PEX6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX5 Louise Daugherty Publications for gene PEX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX3 Louise Daugherty Publications for gene PEX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX26 Louise Daugherty Publications for gene PEX26 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX2 Louise Daugherty Publications for gene PEX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX19 Louise Daugherty Publications for gene PEX19 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX16 Louise Daugherty Publications for gene PEX16 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX14 Louise Daugherty Publications for gene PEX14 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX13 Louise Daugherty Publications for gene PEX13 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX12 Louise Daugherty Publications for gene PEX12 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX10 Louise Daugherty Publications for gene PEX10 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEX1 Louise Daugherty Publications for gene PEX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PET100 Louise Daugherty Publications for gene PET100 were updated from to 30847515
Severe Paediatric Disorders v0.11 PEPD Louise Daugherty Publications for gene PEPD were updated from to 30847515
Severe Paediatric Disorders v0.11 PDYN Louise Daugherty Publications for gene PDYN were updated from to 30847515
Severe Paediatric Disorders v0.11 PDSS2 Louise Daugherty Publications for gene PDSS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PDSS1 Louise Daugherty Publications for gene PDSS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PDP1 Louise Daugherty Publications for gene PDP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PDHX Louise Daugherty Publications for gene PDHX were updated from to 30847515
Severe Paediatric Disorders v0.11 PDHB Louise Daugherty Publications for gene PDHB were updated from to 30847515
Severe Paediatric Disorders v0.11 PDHA1 Louise Daugherty Publications for gene PDHA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PDGFRB Louise Daugherty Publications for gene PDGFRB were updated from to 30847515
Severe Paediatric Disorders v0.11 PDGFB Louise Daugherty Publications for gene PDGFB were updated from to 30847515
Severe Paediatric Disorders v0.11 PDE6G Louise Daugherty Publications for gene PDE6G were updated from to 30847515
Severe Paediatric Disorders v0.11 PDE4D Louise Daugherty Publications for gene PDE4D were updated from to 30847515
Severe Paediatric Disorders v0.11 PDE3A Louise Daugherty Publications for gene PDE3A were updated from to 30847515
Severe Paediatric Disorders v0.11 PDE10A Louise Daugherty Publications for gene PDE10A were updated from to 30847515
Severe Paediatric Disorders v0.11 PDCD10 Louise Daugherty Publications for gene PDCD10 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCYT1A Louise Daugherty Publications for gene PCYT1A were updated from to 30847515
Severe Paediatric Disorders v0.11 PCSK9 Louise Daugherty Publications for gene PCSK9 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCNT Louise Daugherty Publications for gene PCNT were updated from to 30847515
Severe Paediatric Disorders v0.11 PCGF2 Louise Daugherty Publications for gene PCGF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCDH19 Louise Daugherty Publications for gene PCDH19 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCDH15 Louise Daugherty Publications for gene PCDH15 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCDH12 Louise Daugherty Publications for gene PCDH12 were updated from to 30847515
Severe Paediatric Disorders v0.11 PCCB Louise Daugherty Publications for gene PCCB were updated from to 30847515
Severe Paediatric Disorders v0.11 PCCA Louise Daugherty Publications for gene PCCA were updated from to 30847515
Severe Paediatric Disorders v0.11 PCBD1 Louise Daugherty Publications for gene PCBD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 C2orf71 Louise Daugherty Publications for gene C2orf71 were updated from to 30847515
Severe Paediatric Disorders v0.11 PC Louise Daugherty Publications for gene PC were updated from to 30847515
Severe Paediatric Disorders v0.11 PBX1 Louise Daugherty Publications for gene PBX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAX9 Louise Daugherty Publications for gene PAX9 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAX8 Louise Daugherty Publications for gene PAX8 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAX6 Louise Daugherty Publications for gene PAX6 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAX3 Louise Daugherty Publications for gene PAX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAX2 Louise Daugherty Publications for gene PAX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PARS2 Louise Daugherty Publications for gene PARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PARN Louise Daugherty Publications for gene PARN were updated from to 30847515
Severe Paediatric Disorders v0.11 PARK7 Louise Daugherty Publications for gene PARK7 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAPSS2 Louise Daugherty Publications for gene PAPSS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAPPA2 Louise Daugherty Publications for gene PAPPA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PANK2 Louise Daugherty Publications for gene PANK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PALB2 Louise Daugherty Publications for gene PALB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAK3 Louise Daugherty Publications for gene PAK3 were updated from to 30847515
Severe Paediatric Disorders v0.11 PAH Louise Daugherty Publications for gene PAH were updated from to 30847515
Severe Paediatric Disorders v0.11 PAFAH1B1 Louise Daugherty Publications for gene PAFAH1B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 PACS2 Louise Daugherty Publications for gene PACS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 PACS1 Louise Daugherty Publications for gene PACS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 P4HTM Louise Daugherty Publications for gene P4HTM were updated from to 30847515
Severe Paediatric Disorders v0.11 P3H1 Louise Daugherty Publications for gene P3H1 were updated from to 30847515
Severe Paediatric Disorders v0.11 P2RY12 Louise Daugherty Publications for gene P2RY12 were updated from to 30847515
Severe Paediatric Disorders v0.11 OXCT1 Louise Daugherty Publications for gene OXCT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OTX2 Louise Daugherty Publications for gene OTX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 OTULIN Louise Daugherty Publications for gene OTULIN were updated from to 30847515
Severe Paediatric Disorders v0.11 OTUD6B Louise Daugherty Publications for gene OTUD6B were updated from to 30847515
Severe Paediatric Disorders v0.11 OTOGL Louise Daugherty Publications for gene OTOGL were updated from to 30847515
Severe Paediatric Disorders v0.11 OTOF Louise Daugherty Publications for gene OTOF were updated from to 30847515
Severe Paediatric Disorders v0.11 OTOA Louise Daugherty Publications for gene OTOA were updated from to 30847515
Severe Paediatric Disorders v0.11 OTC Louise Daugherty Publications for gene OTC were updated from to 30847515
Severe Paediatric Disorders v0.11 OSTM1 Louise Daugherty Publications for gene OSTM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OSMR Louise Daugherty Publications for gene OSMR were updated from to 30847515
Severe Paediatric Disorders v0.11 OSGEP Louise Daugherty Publications for gene OSGEP were updated from to 30847515
Severe Paediatric Disorders v0.11 ORC6 Louise Daugherty Publications for gene ORC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ORC4 Louise Daugherty Publications for gene ORC4 were updated from to 30847515
Severe Paediatric Disorders v0.11 ORC1 Louise Daugherty Publications for gene ORC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ORAI1 Louise Daugherty Publications for gene ORAI1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OPHN1 Louise Daugherty Publications for gene OPHN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OPA3 Louise Daugherty Publications for gene OPA3 were updated from to 30847515
Severe Paediatric Disorders v0.11 OPA1 Louise Daugherty Publications for gene OPA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OGT Louise Daugherty Publications for gene OGT were updated from to 30847515
Severe Paediatric Disorders v0.11 OFD1 Louise Daugherty Publications for gene OFD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ODC1 Louise Daugherty Publications for gene ODC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 C4orf26 Louise Daugherty Publications for gene C4orf26 were updated from to 30847515
Severe Paediatric Disorders v0.11 OCRL Louise Daugherty Publications for gene OCRL were updated from to 30847515
Severe Paediatric Disorders v0.11 OCLN Louise Daugherty Publications for gene OCLN were updated from to 30847515
Severe Paediatric Disorders v0.11 OCA2 Louise Daugherty Publications for gene OCA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 OBSL1 Louise Daugherty Publications for gene OBSL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 OAT Louise Daugherty Publications for gene OAT were updated from to 30847515
Severe Paediatric Disorders v0.11 NYX Louise Daugherty Publications for gene NYX were updated from to 30847515
Severe Paediatric Disorders v0.11 NUS1 Louise Daugherty Publications for gene NUS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NUP93 Louise Daugherty Publications for gene NUP93 were updated from to 30847515
Severe Paediatric Disorders v0.11 NUP107 Louise Daugherty Publications for gene NUP107 were updated from to 30847515
Severe Paediatric Disorders v0.11 NUBPL Louise Daugherty Publications for gene NUBPL were updated from to 30847515
Severe Paediatric Disorders v0.11 NTRK2 Louise Daugherty Publications for gene NTRK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NTRK1 Louise Daugherty Publications for gene NTRK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NT5C3A Louise Daugherty Publications for gene NT5C3A were updated from to 30847515
Severe Paediatric Disorders v0.11 NT5C2 Louise Daugherty Publications for gene NT5C2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NSUN2 Louise Daugherty Publications for gene NSUN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NSMCE3 Louise Daugherty Publications for gene NSMCE3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NSDHL Louise Daugherty Publications for gene NSDHL were updated from to 30847515
Severe Paediatric Disorders v0.11 NSD2 Louise Daugherty Publications for gene NSD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NSD1 Louise Daugherty Publications for gene NSD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NRXN1 Louise Daugherty Publications for gene NRXN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NRAS Louise Daugherty Publications for gene NRAS were updated from to 30847515
Severe Paediatric Disorders v0.11 NR5A1 Louise Daugherty Publications for gene NR5A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NR2F2 Louise Daugherty Publications for gene NR2F2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NR2F1 Louise Daugherty Publications for gene NR2F1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NR1H4 Louise Daugherty Publications for gene NR1H4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NR0B1 Louise Daugherty Publications for gene NR0B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPRL3 Louise Daugherty Publications for gene NPRL3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPR2 Louise Daugherty Publications for gene NPR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPHS2 Louise Daugherty Publications for gene NPHS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPHS1 Louise Daugherty Publications for gene NPHS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPHP4 Louise Daugherty Publications for gene NPHP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPHP3 Louise Daugherty Publications for gene NPHP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPHP1 Louise Daugherty Publications for gene NPHP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPC2 Louise Daugherty Publications for gene NPC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NPC1 Louise Daugherty Publications for gene NPC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOTCH3 Louise Daugherty Publications for gene NOTCH3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOTCH2 Louise Daugherty Publications for gene NOTCH2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOTCH1 Louise Daugherty Publications for gene NOTCH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOP56 Louise Daugherty Publications for gene NOP56 were updated from to 30847515
Severe Paediatric Disorders v0.11 NOP10 Louise Daugherty Publications for gene NOP10 were updated from to 30847515
Severe Paediatric Disorders v0.11 NONO Louise Daugherty Publications for gene NONO were updated from to 30847515
Severe Paediatric Disorders v0.11 NOG Louise Daugherty Publications for gene NOG were updated from to 30847515
Severe Paediatric Disorders v0.11 NODAL Louise Daugherty Publications for gene NODAL were updated from to 30847515
Severe Paediatric Disorders v0.11 NOD2 Louise Daugherty Publications for gene NOD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NMNAT1 Louise Daugherty Publications for gene NMNAT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NLRP3 Louise Daugherty Publications for gene NLRP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NLRP12 Louise Daugherty Publications for gene NLRP12 were updated from to 30847515
Severe Paediatric Disorders v0.11 NLRC4 Louise Daugherty Publications for gene NLRC4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NLGN3 Louise Daugherty Publications for gene NLGN3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NKX6-2 Louise Daugherty Publications for gene NKX6-2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NKX3-2 Louise Daugherty Publications for gene NKX3-2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NKX2-5 Louise Daugherty Publications for gene NKX2-5 were updated from to 30847515
Severe Paediatric Disorders v0.11 NKX2-1 Louise Daugherty Publications for gene NKX2-1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NIPBL Louise Daugherty Publications for gene NIPBL were updated from to 30847515
Severe Paediatric Disorders v0.11 NIPAL4 Louise Daugherty Publications for gene NIPAL4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NIPA1 Louise Daugherty Publications for gene NIPA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NHS Louise Daugherty Publications for gene NHS were updated from to 30847515
Severe Paediatric Disorders v0.11 NHP2 Louise Daugherty Publications for gene NHP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NHLRC1 Louise Daugherty Publications for gene NHLRC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NHEJ1 Louise Daugherty Publications for gene NHEJ1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NGLY1 Louise Daugherty Publications for gene NGLY1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFU1 Louise Daugherty Publications for gene NFU1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFKBIA Louise Daugherty Publications for gene NFKBIA were updated from to 30847515
Severe Paediatric Disorders v0.11 NFKB2 Louise Daugherty Publications for gene NFKB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFKB1 Louise Daugherty Publications for gene NFKB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFIX Louise Daugherty Publications for gene NFIX were updated from to 30847515
Severe Paediatric Disorders v0.11 NFIA Louise Daugherty Publications for gene NFIA were updated from to 30847515
Severe Paediatric Disorders v0.11 NFE2L2 Louise Daugherty Publications for gene NFE2L2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NFASC Louise Daugherty Publications for gene NFASC were updated from to 30847515
Severe Paediatric Disorders v0.11 NF2 Louise Daugherty Publications for gene NF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NF1 Louise Daugherty Publications for gene NF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NEXMIF Louise Daugherty Publications for gene NEXMIF were updated from to 30847515
Severe Paediatric Disorders v0.11 NEU1 Louise Daugherty Publications for gene NEU1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NEK8 Louise Daugherty Publications for gene NEK8 were updated from to 30847515
Severe Paediatric Disorders v0.11 NEK1 Louise Daugherty Publications for gene NEK1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NEFL Louise Daugherty Publications for gene NEFL were updated from to 30847515
Severe Paediatric Disorders v0.11 NEFH Louise Daugherty Publications for gene NEFH were updated from to 30847515
Severe Paediatric Disorders v0.11 NEDD4L Louise Daugherty Publications for gene NEDD4L were updated from to 30847515
Severe Paediatric Disorders v0.11 NECTIN4 Louise Daugherty Publications for gene NECTIN4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NECTIN1 Louise Daugherty Publications for gene NECTIN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NEB Louise Daugherty Publications for gene NEB were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFV2 Louise Daugherty Publications for gene NDUFV2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFV1 Louise Daugherty Publications for gene NDUFV1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS8 Louise Daugherty Publications for gene NDUFS8 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS7 Louise Daugherty Publications for gene NDUFS7 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS6 Louise Daugherty Publications for gene NDUFS6 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS4 Louise Daugherty Publications for gene NDUFS4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS3 Louise Daugherty Publications for gene NDUFS3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS2 Louise Daugherty Publications for gene NDUFS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFS1 Louise Daugherty Publications for gene NDUFS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFB8 Louise Daugherty Publications for gene NDUFB8 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFB3 Louise Daugherty Publications for gene NDUFB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFB11 Louise Daugherty Publications for gene NDUFB11 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF8 Louise Daugherty Publications for gene NDUFAF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF6 Louise Daugherty Publications for gene NDUFAF6 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF5 Louise Daugherty Publications for gene NDUFAF5 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF4 Louise Daugherty Publications for gene NDUFAF4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF3 Louise Daugherty Publications for gene NDUFAF3 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF2 Louise Daugherty Publications for gene NDUFAF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFAF1 Louise Daugherty Publications for gene NDUFAF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA9 Louise Daugherty Publications for gene NDUFA9 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA6 Louise Daugherty Publications for gene NDUFA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA4 Louise Daugherty Publications for gene NDUFA4 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA11 Louise Daugherty Publications for gene NDUFA11 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA10 Louise Daugherty Publications for gene NDUFA10 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDUFA1 Louise Daugherty Publications for gene NDUFA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDST1 Louise Daugherty Publications for gene NDST1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDRG1 Louise Daugherty Publications for gene NDRG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NDP Louise Daugherty Publications for gene NDP were updated from to 30847515
Severe Paediatric Disorders v0.11 NDE1 Louise Daugherty Publications for gene NDE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NCF2 Louise Daugherty Publications for gene NCF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NCF1 Louise Daugherty Publications for gene NCF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NBN Louise Daugherty Publications for gene NBN were updated from to 30847515
Severe Paediatric Disorders v0.11 NBEAL2 Louise Daugherty Publications for gene NBEAL2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NBEA Louise Daugherty Publications for gene NBEA were updated from to 30847515
Severe Paediatric Disorders v0.11 NBAS Louise Daugherty Publications for gene NBAS were updated from to 30847515
Severe Paediatric Disorders v0.11 NAXE Louise Daugherty Publications for gene NAXE were updated from to 30847515
Severe Paediatric Disorders v0.11 NARS2 Louise Daugherty Publications for gene NARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 NANS Louise Daugherty Publications for gene NANS were updated from to 30847515
Severe Paediatric Disorders v0.11 NALCN Louise Daugherty Publications for gene NALCN were updated from to 30847515
Severe Paediatric Disorders v0.11 NAGS Louise Daugherty Publications for gene NAGS were updated from to 30847515
Severe Paediatric Disorders v0.11 NAGLU Louise Daugherty Publications for gene NAGLU were updated from to 30847515
Severe Paediatric Disorders v0.11 NAGA Louise Daugherty Publications for gene NAGA were updated from to 30847515
Severe Paediatric Disorders v0.11 NACC1 Louise Daugherty Publications for gene NACC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 NAA15 Louise Daugherty Publications for gene NAA15 were updated from to 30847515
Severe Paediatric Disorders v0.11 NAA10 Louise Daugherty Publications for gene NAA10 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYT1L Louise Daugherty Publications for gene MYT1L were updated from to 30847515
Severe Paediatric Disorders v0.11 MYT1 Louise Daugherty Publications for gene MYT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYSM1 Louise Daugherty Publications for gene MYSM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYRF Louise Daugherty Publications for gene MYRF were updated from to 30847515
Severe Paediatric Disorders v0.11 MYOT Louise Daugherty Publications for gene MYOT were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO7A Louise Daugherty Publications for gene MYO7A were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO6 Louise Daugherty Publications for gene MYO6 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO5B Louise Daugherty Publications for gene MYO5B were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO5A Louise Daugherty Publications for gene MYO5A were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO3A Louise Daugherty Publications for gene MYO3A were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO1E Louise Daugherty Publications for gene MYO1E were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO18B Louise Daugherty Publications for gene MYO18B were updated from to 30847515
Severe Paediatric Disorders v0.11 MYO15A Louise Daugherty Publications for gene MYO15A were updated from to 30847515
Severe Paediatric Disorders v0.11 MYMK Louise Daugherty Publications for gene MYMK were updated from to 30847515
Severe Paediatric Disorders v0.11 MYL1 Louise Daugherty Publications for gene MYL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH9 Louise Daugherty Publications for gene MYH9 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH8 Louise Daugherty Publications for gene MYH8 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH7 Louise Daugherty Publications for gene MYH7 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH6 Louise Daugherty Publications for gene MYH6 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH3 Louise Daugherty Publications for gene MYH3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH2 Louise Daugherty Publications for gene MYH2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH14 Louise Daugherty Publications for gene MYH14 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYH10 Louise Daugherty Publications for gene MYH10 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYD88 Louise Daugherty Publications for gene MYD88 were updated from to 30847515
Severe Paediatric Disorders v0.11 MYCN Louise Daugherty Publications for gene MYCN were updated from to 30847515
Severe Paediatric Disorders v0.11 MYBPC1 Louise Daugherty Publications for gene MYBPC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MVK Louise Daugherty Publications for gene MVK were updated from to 30847515
Severe Paediatric Disorders v0.11 MUSK Louise Daugherty Publications for gene MUSK were updated from to 30847515
Severe Paediatric Disorders v0.11 MUC1 Louise Daugherty Publications for gene MUC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MTTP Louise Daugherty Publications for gene MTTP were updated from to 30847515
Severe Paediatric Disorders v0.11 MTRR Louise Daugherty Publications for gene MTRR were updated from to 30847515
Severe Paediatric Disorders v0.11 MTR Louise Daugherty Publications for gene MTR were updated from to 30847515
Severe Paediatric Disorders v0.11 MTOR Louise Daugherty Publications for gene MTOR were updated from to 30847515
Severe Paediatric Disorders v0.11 MTO1 Louise Daugherty Publications for gene MTO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MTMR2 Louise Daugherty Publications for gene MTMR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MTM1 Louise Daugherty Publications for gene MTM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MTHFR Louise Daugherty Publications for gene MTHFR were updated from to 30847515
Severe Paediatric Disorders v0.11 MTHFD1 Louise Daugherty Publications for gene MTHFD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MTFMT Louise Daugherty Publications for gene MTFMT were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TY Louise Daugherty Publications for gene MT-TY were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TW Louise Daugherty Publications for gene MT-TW were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TV Louise Daugherty Publications for gene MT-TV were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TS2 Louise Daugherty Publications for gene MT-TS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TS1 Louise Daugherty Publications for gene MT-TS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TR Louise Daugherty Publications for gene MT-TR were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TQ Louise Daugherty Publications for gene MT-TQ were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TP Louise Daugherty Publications for gene MT-TP were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TN Louise Daugherty Publications for gene MT-TN were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TM Louise Daugherty Publications for gene MT-TM were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TL2 Louise Daugherty Publications for gene MT-TL2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TL1 Louise Daugherty Publications for gene MT-TL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TK Louise Daugherty Publications for gene MT-TK were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TI Louise Daugherty Publications for gene MT-TI were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TH Louise Daugherty Publications for gene MT-TH were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TG Louise Daugherty Publications for gene MT-TG were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TF Louise Daugherty Publications for gene MT-TF were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TE Louise Daugherty Publications for gene MT-TE were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TD Louise Daugherty Publications for gene MT-TD were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TC Louise Daugherty Publications for gene MT-TC were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-TA Louise Daugherty Publications for gene MT-TA were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-RNR1 Louise Daugherty Publications for gene MT-RNR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND6 Louise Daugherty Publications for gene MT-ND6 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND5 Louise Daugherty Publications for gene MT-ND5 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND4L Louise Daugherty Publications for gene MT-ND4L were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND4 Louise Daugherty Publications for gene MT-ND4 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND3 Louise Daugherty Publications for gene MT-ND3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND2 Louise Daugherty Publications for gene MT-ND2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ND1 Louise Daugherty Publications for gene MT-ND1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-CYB Louise Daugherty Publications for gene MT-CYB were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-CO3 Louise Daugherty Publications for gene MT-CO3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-CO2 Louise Daugherty Publications for gene MT-CO2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-CO1 Louise Daugherty Publications for gene MT-CO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ATP8 Louise Daugherty Publications for gene MT-ATP8 were updated from to 30847515
Severe Paediatric Disorders v0.11 MT-ATP6 Louise Daugherty Publications for gene MT-ATP6 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSX2 Louise Daugherty Publications for gene MSX2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSX1 Louise Daugherty Publications for gene MSX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSTO1 Louise Daugherty Publications for gene MSTO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSN Louise Daugherty Publications for gene MSN were updated from to 30847515
Severe Paediatric Disorders v0.11 MSMO1 Louise Daugherty Publications for gene MSMO1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSL3 Louise Daugherty Publications for gene MSL3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MSH6 Louise Daugherty Publications for gene MSH6 were updated from to 30847515
Severe Paediatric Disorders v0.11 MS4A1 Louise Daugherty Publications for gene MS4A1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MRPS34 Louise Daugherty Publications for gene MRPS34 were updated from to 30847515
Severe Paediatric Disorders v0.11 MRPS22 Louise Daugherty Publications for gene MRPS22 were updated from to 30847515
Severe Paediatric Disorders v0.11 MRPS2 Louise Daugherty Publications for gene MRPS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MRPL3 Louise Daugherty Publications for gene MRPL3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MRE11 Louise Daugherty Publications for gene MRE11 were updated from to 30847515
Severe Paediatric Disorders v0.11 MPZ Louise Daugherty Publications for gene MPZ were updated from to 30847515
Severe Paediatric Disorders v0.11 MPV17 Louise Daugherty Publications for gene MPV17 were updated from to 30847515
Severe Paediatric Disorders v0.11 MPO Louise Daugherty Publications for gene MPO were updated from to 30847515
Severe Paediatric Disorders v0.11 MPLKIP Louise Daugherty Publications for gene MPLKIP were updated from to 30847515
Severe Paediatric Disorders v0.11 MPL Louise Daugherty Publications for gene MPL were updated from to 30847515
Severe Paediatric Disorders v0.11 MPIG6B Louise Daugherty Publications for gene MPIG6B were updated from to 30847515
Severe Paediatric Disorders v0.11 MPI Louise Daugherty Publications for gene MPI were updated from to 30847515
Severe Paediatric Disorders v0.11 MPDU1 Louise Daugherty Publications for gene MPDU1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MPC1 Louise Daugherty Publications for gene MPC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MORC2 Louise Daugherty Publications for gene MORC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MOGS Louise Daugherty Publications for gene MOGS were updated from to 30847515
Severe Paediatric Disorders v0.11 MOCS2 Louise Daugherty Publications for gene MOCS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MOCS1 Louise Daugherty Publications for gene MOCS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MNX1 Louise Daugherty Publications for gene MNX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MUT Louise Daugherty Publications for gene MUT were updated from to 30847515
Severe Paediatric Disorders v0.11 MMP21 Louise Daugherty Publications for gene MMP21 were updated from to 30847515
Severe Paediatric Disorders v0.11 MMP2 Louise Daugherty Publications for gene MMP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MMP13 Louise Daugherty Publications for gene MMP13 were updated from to 30847515
Severe Paediatric Disorders v0.11 MMADHC Louise Daugherty Publications for gene MMADHC were updated from to 30847515
Severe Paediatric Disorders v0.11 MMACHC Louise Daugherty Publications for gene MMACHC were updated from to 30847515
Severe Paediatric Disorders v0.11 MMAB Louise Daugherty Publications for gene MMAB were updated from to 30847515
Severe Paediatric Disorders v0.11 MMAA Louise Daugherty Publications for gene MMAA were updated from to 30847515
Severe Paediatric Disorders v0.11 MLYCD Louise Daugherty Publications for gene MLYCD were updated from to 30847515
Severe Paediatric Disorders v0.11 MLC1 Louise Daugherty Publications for gene MLC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MKS1 Louise Daugherty Publications for gene MKS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MKKS Louise Daugherty Publications for gene MKKS were updated from to 30847515
Severe Paediatric Disorders v0.11 MITF Louise Daugherty Publications for gene MITF were updated from to 30847515
Severe Paediatric Disorders v0.11 MIPEP Louise Daugherty Publications for gene MIPEP were updated from to 30847515
Severe Paediatric Disorders v0.11 MID1 Louise Daugherty Publications for gene MID1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MICU1 Louise Daugherty Publications for gene MICU1 were updated from to 30847515
Severe Paediatric Disorders v0.11 C19orf70 Louise Daugherty Publications for gene C19orf70 were updated from to 30847515
Severe Paediatric Disorders v0.11 MGP Louise Daugherty Publications for gene MGP were updated from to 30847515
Severe Paediatric Disorders v0.11 MGME1 Louise Daugherty Publications for gene MGME1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MGAT2 Louise Daugherty Publications for gene MGAT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MFSD8 Louise Daugherty Publications for gene MFSD8 were updated from to 30847515
Severe Paediatric Disorders v0.11 MFSD2A Louise Daugherty Publications for gene MFSD2A were updated from to 30847515
Severe Paediatric Disorders v0.11 MFRP Louise Daugherty Publications for gene MFRP were updated from to 30847515
Severe Paediatric Disorders v0.11 MFN2 Louise Daugherty Publications for gene MFN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MFF Louise Daugherty Publications for gene MFF were updated from to 30847515
Severe Paediatric Disorders v0.11 METTL23 Louise Daugherty Publications for gene METTL23 were updated from to 30847515
Severe Paediatric Disorders v0.11 MESP2 Louise Daugherty Publications for gene MESP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEOX1 Louise Daugherty Publications for gene MEOX1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEIS2 Louise Daugherty Publications for gene MEIS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEGF8 Louise Daugherty Publications for gene MEGF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEGF10 Louise Daugherty Publications for gene MEGF10 were updated from to 30847515
Severe Paediatric Disorders v0.11 MEFV Louise Daugherty Publications for gene MEFV were updated from to 30847515
Severe Paediatric Disorders v0.11 MEF2C Louise Daugherty Publications for gene MEF2C were updated from to 30847515
Severe Paediatric Disorders v0.11 MED23 Louise Daugherty Publications for gene MED23 were updated from to 30847515
Severe Paediatric Disorders v0.11 MED17 Louise Daugherty Publications for gene MED17 were updated from to 30847515
Severe Paediatric Disorders v0.11 MED13L Louise Daugherty Publications for gene MED13L were updated from to 30847515
Severe Paediatric Disorders v0.11 MED12 Louise Daugherty Publications for gene MED12 were updated from to 30847515
Severe Paediatric Disorders v0.11 MECR Louise Daugherty Publications for gene MECR were updated from to 30847515
Severe Paediatric Disorders v0.11 MECP2 Louise Daugherty Publications for gene MECP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MECOM Louise Daugherty Publications for gene MECOM were updated from to 30847515
Severe Paediatric Disorders v0.11 MDH2 Louise Daugherty Publications for gene MDH2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCPH1 Louise Daugherty Publications for gene MCPH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCOLN1 Louise Daugherty Publications for gene MCOLN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCM4 Louise Daugherty Publications for gene MCM4 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCM3AP Louise Daugherty Publications for gene MCM3AP were updated from to 30847515
Severe Paediatric Disorders v0.11 MCFD2 Louise Daugherty Publications for gene MCFD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCEE Louise Daugherty Publications for gene MCEE were updated from to 30847515
Severe Paediatric Disorders v0.11 MCCC2 Louise Daugherty Publications for gene MCCC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MCCC1 Louise Daugherty Publications for gene MCCC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MC2R Louise Daugherty Publications for gene MC2R were updated from to 30847515
Severe Paediatric Disorders v0.11 MBTPS2 Louise Daugherty Publications for gene MBTPS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MBOAT7 Louise Daugherty Publications for gene MBOAT7 were updated from to 30847515
Severe Paediatric Disorders v0.11 MBD5 Louise Daugherty Publications for gene MBD5 were updated from to 30847515
Severe Paediatric Disorders v0.11 MATR3 Louise Daugherty Publications for gene MATR3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MATN3 Louise Daugherty Publications for gene MATN3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAT1A Louise Daugherty Publications for gene MAT1A were updated from to 30847515
Severe Paediatric Disorders v0.11 MAST1 Louise Daugherty Publications for gene MAST1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MASP2 Louise Daugherty Publications for gene MASP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MASP1 Louise Daugherty Publications for gene MASP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MARVELD2 Louise Daugherty Publications for gene MARVELD2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MARS2 Louise Daugherty Publications for gene MARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAPT Louise Daugherty Publications for gene MAPT were updated from to 30847515
Severe Paediatric Disorders v0.11 MAPRE2 Louise Daugherty Publications for gene MAPRE2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAPKBP1 Louise Daugherty Publications for gene MAPKBP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAPK8IP3 Louise Daugherty Publications for gene MAPK8IP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAP3K7 Louise Daugherty Publications for gene MAP3K7 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAP3K20 Louise Daugherty Publications for gene MAP3K20 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAP3K1 Louise Daugherty Publications for gene MAP3K1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAP2K2 Louise Daugherty Publications for gene MAP2K2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAP2K1 Louise Daugherty Publications for gene MAP2K1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAOA Louise Daugherty Publications for gene MAOA were updated from to 30847515
Severe Paediatric Disorders v0.11 MANBA Louise Daugherty Publications for gene MANBA were updated from to 30847515
Severe Paediatric Disorders v0.11 MAN2B1 Louise Daugherty Publications for gene MAN2B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAN1B1 Louise Daugherty Publications for gene MAN1B1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MALT1 Louise Daugherty Publications for gene MALT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAGT1 Louise Daugherty Publications for gene MAGT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAGI2 Louise Daugherty Publications for gene MAGI2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAGEL2 Louise Daugherty Publications for gene MAGEL2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAFB Louise Daugherty Publications for gene MAFB were updated from to 30847515
Severe Paediatric Disorders v0.11 MAF Louise Daugherty Publications for gene MAF were updated from to 30847515
Severe Paediatric Disorders v0.11 MACF1 Louise Daugherty Publications for gene MACF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAB21L2 Louise Daugherty Publications for gene MAB21L2 were updated from to 30847515
Severe Paediatric Disorders v0.11 MAB21L1 Louise Daugherty Publications for gene MAB21L1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LZTR1 Louise Daugherty Publications for gene LZTR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LZTFL1 Louise Daugherty Publications for gene LZTFL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LYST Louise Daugherty Publications for gene LYST were updated from to 30847515
Severe Paediatric Disorders v0.11 LYRM7 Louise Daugherty Publications for gene LYRM7 were updated from to 30847515
Severe Paediatric Disorders v0.11 LTBP4 Louise Daugherty Publications for gene LTBP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 LTBP3 Louise Daugherty Publications for gene LTBP3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LTBP2 Louise Daugherty Publications for gene LTBP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRTOMT Louise Daugherty Publications for gene LRTOMT were updated from to 30847515
Severe Paediatric Disorders v0.11 LRSAM1 Louise Daugherty Publications for gene LRSAM1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRRK2 Louise Daugherty Publications for gene LRRK2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRRC6 Louise Daugherty Publications for gene LRRC6 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRPPRC Louise Daugherty Publications for gene LRPPRC were updated from to 30847515
Severe Paediatric Disorders v0.11 LRP5 Louise Daugherty Publications for gene LRP5 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRP4 Louise Daugherty Publications for gene LRP4 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRP2 Louise Daugherty Publications for gene LRP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRIG2 Louise Daugherty Publications for gene LRIG2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LRBA Louise Daugherty Publications for gene LRBA were updated from to 30847515
Severe Paediatric Disorders v0.11 LPL Louise Daugherty Publications for gene LPL were updated from to 30847515
Severe Paediatric Disorders v0.11 LPIN2 Louise Daugherty Publications for gene LPIN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LPIN1 Louise Daugherty Publications for gene LPIN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LOXHD1 Louise Daugherty Publications for gene LOXHD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LONP1 Louise Daugherty Publications for gene LONP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LNPK Louise Daugherty Publications for gene LNPK were updated from to 30847515
Severe Paediatric Disorders v0.11 LMX1B Louise Daugherty Publications for gene LMX1B were updated from to 30847515
Severe Paediatric Disorders v0.11 LMOD3 Louise Daugherty Publications for gene LMOD3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LMNB1 Louise Daugherty Publications for gene LMNB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LMNA Louise Daugherty Publications for gene LMNA were updated from to 30847515
Severe Paediatric Disorders v0.11 LMBRD1 Louise Daugherty Publications for gene LMBRD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LMBR1 Louise Daugherty Publications for gene LMBR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LMAN1 Louise Daugherty Publications for gene LMAN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LITAF Louise Daugherty Publications for gene LITAF were updated from to 30847515
Severe Paediatric Disorders v0.11 LIPT2 Louise Daugherty Publications for gene LIPT2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LIPT1 Louise Daugherty Publications for gene LIPT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LIPA Louise Daugherty Publications for gene LIPA were updated from to 30847515
Severe Paediatric Disorders v0.11 LINS1 Louise Daugherty Publications for gene LINS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LIG4 Louise Daugherty Publications for gene LIG4 were updated from to 30847515
Severe Paediatric Disorders v0.11 LIFR Louise Daugherty Publications for gene LIFR were updated from to 30847515
Severe Paediatric Disorders v0.11 LIAS Louise Daugherty Publications for gene LIAS were updated from to 30847515
Severe Paediatric Disorders v0.11 LHX4 Louise Daugherty Publications for gene LHX4 were updated from to 30847515
Severe Paediatric Disorders v0.11 LHX3 Louise Daugherty Publications for gene LHX3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LHFPL5 Louise Daugherty Publications for gene LHFPL5 were updated from to 30847515
Severe Paediatric Disorders v0.11 LGI4 Louise Daugherty Publications for gene LGI4 were updated from to 30847515
Severe Paediatric Disorders v0.11 LGI1 Louise Daugherty Publications for gene LGI1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LFNG Louise Daugherty Publications for gene LFNG were updated from to 30847515
Severe Paediatric Disorders v0.11 LEPR Louise Daugherty Publications for gene LEPR were updated from to 30847515
Severe Paediatric Disorders v0.11 LEMD3 Louise Daugherty Publications for gene LEMD3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LDLRAP1 Louise Daugherty Publications for gene LDLRAP1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LDLR Louise Daugherty Publications for gene LDLR were updated from to 30847515
Severe Paediatric Disorders v0.11 LDHA Louise Daugherty Publications for gene LDHA were updated from to 30847515
Severe Paediatric Disorders v0.11 LDB3 Louise Daugherty Publications for gene LDB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LCT Louise Daugherty Publications for gene LCT were updated from to 30847515
Severe Paediatric Disorders v0.11 LCAT Louise Daugherty Publications for gene LCAT were updated from to 30847515
Severe Paediatric Disorders v0.11 LBR Louise Daugherty Publications for gene LBR were updated from to 30847515
Severe Paediatric Disorders v0.11 LAT Louise Daugherty Publications for gene LAT were updated from to 30847515
Severe Paediatric Disorders v0.11 LARS2 Louise Daugherty Publications for gene LARS2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LARP7 Louise Daugherty Publications for gene LARP7 were updated from to 30847515
Severe Paediatric Disorders v0.11 LARGE1 Louise Daugherty Publications for gene LARGE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMTOR2 Louise Daugherty Publications for gene LAMTOR2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMP2 Louise Daugherty Publications for gene LAMP2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMC3 Louise Daugherty Publications for gene LAMC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMC2 Louise Daugherty Publications for gene LAMC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMB3 Louise Daugherty Publications for gene LAMB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMB2 Louise Daugherty Publications for gene LAMB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMB1 Louise Daugherty Publications for gene LAMB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMA3 Louise Daugherty Publications for gene LAMA3 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMA2 Louise Daugherty Publications for gene LAMA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAMA1 Louise Daugherty Publications for gene LAMA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 LAGE3 Louise Daugherty Publications for gene LAGE3 were updated from to 30847515
Severe Paediatric Disorders v0.11 L2HGDH Louise Daugherty Publications for gene L2HGDH were updated from to 30847515
Severe Paediatric Disorders v0.11 L1CAM Louise Daugherty Publications for gene L1CAM were updated from to 30847515
Severe Paediatric Disorders v0.11 KYNU Louise Daugherty Publications for gene KYNU were updated from to 30847515
Severe Paediatric Disorders v0.11 KRT6A Louise Daugherty Publications for gene KRT6A were updated from to 30847515
Severe Paediatric Disorders v0.11 KRT5 Louise Daugherty Publications for gene KRT5 were updated from to 30847515
Severe Paediatric Disorders v0.11 KRT17 Louise Daugherty Publications for gene KRT17 were updated from to 30847515
Severe Paediatric Disorders v0.11 KRT16 Louise Daugherty Publications for gene KRT16 were updated from to 30847515
Severe Paediatric Disorders v0.11 KRT14 Louise Daugherty Publications for gene KRT14 were updated from to 30847515
Severe Paediatric Disorders v0.11 KRIT1 Louise Daugherty Publications for gene KRIT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KRAS Louise Daugherty Publications for gene KRAS were updated from to 30847515
Severe Paediatric Disorders v0.11 KPTN Louise Daugherty Publications for gene KPTN were updated from to 30847515
Severe Paediatric Disorders v0.11 KNL1 Louise Daugherty Publications for gene KNL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KNG1 Louise Daugherty Publications for gene KNG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KMT5B Louise Daugherty Publications for gene KMT5B were updated from to 30847515
Severe Paediatric Disorders v0.11 KMT2E Louise Daugherty Publications for gene KMT2E were updated from to 30847515
Severe Paediatric Disorders v0.11 KMT2D Louise Daugherty Publications for gene KMT2D were updated from to 30847515
Severe Paediatric Disorders v0.11 KMT2C Louise Daugherty Publications for gene KMT2C were updated from to 30847515
Severe Paediatric Disorders v0.11 KMT2B Louise Daugherty Publications for gene KMT2B were updated from to 30847515
Severe Paediatric Disorders v0.11 KMT2A Louise Daugherty Publications for gene KMT2A were updated from to 30847515
Severe Paediatric Disorders v0.11 KLKB1 Louise Daugherty Publications for gene KLKB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KLHL7 Louise Daugherty Publications for gene KLHL7 were updated from to 30847515
Severe Paediatric Disorders v0.11 KLHL41 Louise Daugherty Publications for gene KLHL41 were updated from to 30847515
Severe Paediatric Disorders v0.11 KLHL40 Louise Daugherty Publications for gene KLHL40 were updated from to 30847515
Severe Paediatric Disorders v0.11 KLF1 Louise Daugherty Publications for gene KLF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIT Louise Daugherty Publications for gene KIT were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF1BP Louise Daugherty Publications for gene KIF1BP were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF7 Louise Daugherty Publications for gene KIF7 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF5C Louise Daugherty Publications for gene KIF5C were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF5A Louise Daugherty Publications for gene KIF5A were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF2A Louise Daugherty Publications for gene KIF2A were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF23 Louise Daugherty Publications for gene KIF23 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF22 Louise Daugherty Publications for gene KIF22 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF21A Louise Daugherty Publications for gene KIF21A were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF1C Louise Daugherty Publications for gene KIF1C were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF1A Louise Daugherty Publications for gene KIF1A were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF14 Louise Daugherty Publications for gene KIF14 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIF11 Louise Daugherty Publications for gene KIF11 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIDINS220 Louise Daugherty Publications for gene KIDINS220 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIAA1109 Louise Daugherty Publications for gene KIAA1109 were updated from to 30847515
Severe Paediatric Disorders v0.11 KIAA0586 Louise Daugherty Publications for gene KIAA0586 were updated from to 30847515
Severe Paediatric Disorders v0.11 KDSR Louise Daugherty Publications for gene KDSR were updated from to 30847515
Severe Paediatric Disorders v0.11 KDM6A Louise Daugherty Publications for gene KDM6A were updated from to 30847515
Severe Paediatric Disorders v0.11 KDM5C Louise Daugherty Publications for gene KDM5C were updated from to 30847515
Severe Paediatric Disorders v0.11 KDM5B Louise Daugherty Publications for gene KDM5B were updated from to 30847515
Severe Paediatric Disorders v0.11 KDM1A Louise Daugherty Publications for gene KDM1A were updated from to 30847515
Severe Paediatric Disorders v0.11 KCTD7 Louise Daugherty Publications for gene KCTD7 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCTD3 Louise Daugherty Publications for gene KCTD3 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCTD1 Louise Daugherty Publications for gene KCTD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNT1 Louise Daugherty Publications for gene KCNT1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNQ5 Louise Daugherty Publications for gene KCNQ5 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNQ4 Louise Daugherty Publications for gene KCNQ4 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNQ3 Louise Daugherty Publications for gene KCNQ3 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNQ2 Louise Daugherty Publications for gene KCNQ2 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNQ1 Louise Daugherty Publications for gene KCNQ1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNMA1 Louise Daugherty Publications for gene KCNMA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNK9 Louise Daugherty Publications for gene KCNK9 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNK4 Louise Daugherty Publications for gene KCNK4 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNJ6 Louise Daugherty Publications for gene KCNJ6 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNJ2 Louise Daugherty Publications for gene KCNJ2 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNJ11 Louise Daugherty Publications for gene KCNJ11 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNJ10 Louise Daugherty Publications for gene KCNJ10 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNJ1 Louise Daugherty Publications for gene KCNJ1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNH1 Louise Daugherty Publications for gene KCNH1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNE1 Louise Daugherty Publications for gene KCNE1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCND3 Louise Daugherty Publications for gene KCND3 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNC3 Louise Daugherty Publications for gene KCNC3 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNC1 Louise Daugherty Publications for gene KCNC1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNB1 Louise Daugherty Publications for gene KCNB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNA2 Louise Daugherty Publications for gene KCNA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 KCNA1 Louise Daugherty Publications for gene KCNA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KBTBD13 Louise Daugherty Publications for gene KBTBD13 were updated from to 30847515
Severe Paediatric Disorders v0.11 KATNB1 Louise Daugherty Publications for gene KATNB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 KAT6B Louise Daugherty Publications for gene KAT6B were updated from to 30847515
Severe Paediatric Disorders v0.11 KAT6A Louise Daugherty Publications for gene KAT6A were updated from to 30847515
Severe Paediatric Disorders v0.11 KARS Louise Daugherty Publications for gene KARS were updated from to 30847515
Severe Paediatric Disorders v0.11 KANSL1 Louise Daugherty Publications for gene KANSL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 JUP Louise Daugherty Publications for gene JUP were updated from to 30847515
Severe Paediatric Disorders v0.11 JPH3 Louise Daugherty Publications for gene JPH3 were updated from to 30847515
Severe Paediatric Disorders v0.11 JPH2 Louise Daugherty Publications for gene JPH2 were updated from to 30847515
Severe Paediatric Disorders v0.11 JAM3 Louise Daugherty Publications for gene JAM3 were updated from to 30847515
Severe Paediatric Disorders v0.11 JAK3 Louise Daugherty Publications for gene JAK3 were updated from to 30847515
Severe Paediatric Disorders v0.11 JAGN1 Louise Daugherty Publications for gene JAGN1 were updated from to 30847515
Severe Paediatric Disorders v0.11 JAG1 Louise Daugherty Publications for gene JAG1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IVD Louise Daugherty Publications for gene IVD were updated from to 30847515
Severe Paediatric Disorders v0.11 ITSN2 Louise Daugherty Publications for gene ITSN2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITPR1 Louise Daugherty Publications for gene ITPR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITPA Louise Daugherty Publications for gene ITPA were updated from to 30847515
Severe Paediatric Disorders v0.11 ITK Louise Daugherty Publications for gene ITK were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGB4 Louise Daugherty Publications for gene ITGB4 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGB3 Louise Daugherty Publications for gene ITGB3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGB2 Louise Daugherty Publications for gene ITGB2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA8 Louise Daugherty Publications for gene ITGA8 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA7 Louise Daugherty Publications for gene ITGA7 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA6 Louise Daugherty Publications for gene ITGA6 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA3 Louise Daugherty Publications for gene ITGA3 were updated from to 30847515
Severe Paediatric Disorders v0.11 ITGA2B Louise Daugherty Publications for gene ITGA2B were updated from to 30847515
Severe Paediatric Disorders v0.11 ITCH Louise Daugherty Publications for gene ITCH were updated from to 30847515
Severe Paediatric Disorders v0.11 ISG15 Louise Daugherty Publications for gene ISG15 were updated from to 30847515
Severe Paediatric Disorders v0.11 ISCU Louise Daugherty Publications for gene ISCU were updated from to 30847515
Severe Paediatric Disorders v0.11 ISCA2 Louise Daugherty Publications for gene ISCA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 ISCA1 Louise Daugherty Publications for gene ISCA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IRX5 Louise Daugherty Publications for gene IRX5 were updated from to 30847515
Severe Paediatric Disorders v0.11 IRF8 Louise Daugherty Publications for gene IRF8 were updated from to 30847515
Severe Paediatric Disorders v0.11 IRF6 Louise Daugherty Publications for gene IRF6 were updated from to 30847515
Severe Paediatric Disorders v0.11 IRF2BPL Louise Daugherty Publications for gene IRF2BPL were updated from to 30847515
Severe Paediatric Disorders v0.11 IRAK4 Louise Daugherty Publications for gene IRAK4 were updated from to 30847515
Severe Paediatric Disorders v0.11 IQSEC2 Louise Daugherty Publications for gene IQSEC2 were updated from to 30847515
Severe Paediatric Disorders v0.11 IQCB1 Louise Daugherty Publications for gene IQCB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 INVS Louise Daugherty Publications for gene INVS were updated from to 30847515
Severe Paediatric Disorders v0.11 INTU Louise Daugherty Publications for gene INTU were updated from to 30847515
Severe Paediatric Disorders v0.11 INTS1 Louise Daugherty Publications for gene INTS1 were updated from to 30847515
Severe Paediatric Disorders v0.11 INSR Louise Daugherty Publications for gene INSR were updated from to 30847515
Severe Paediatric Disorders v0.11 INPPL1 Louise Daugherty Publications for gene INPPL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 INPP5K Louise Daugherty Publications for gene INPP5K were updated from to 30847515
Severe Paediatric Disorders v0.11 INPP5E Louise Daugherty Publications for gene INPP5E were updated from to 30847515
Severe Paediatric Disorders v0.11 INO80 Louise Daugherty Publications for gene INO80 were updated from to 30847515
Severe Paediatric Disorders v0.11 INF2 Louise Daugherty Publications for gene INF2 were updated from to 30847515
Severe Paediatric Disorders v0.11 IMPAD1 Louise Daugherty Publications for gene IMPAD1 were updated from to 30847515
Severe Paediatric Disorders v0.11 ILDR1 Louise Daugherty Publications for gene ILDR1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL7R Louise Daugherty Publications for gene IL7R were updated from to 30847515
Severe Paediatric Disorders v0.11 IL36RN Louise Daugherty Publications for gene IL36RN were updated from to 30847515
Severe Paediatric Disorders v0.11 IL2RG Louise Daugherty Publications for gene IL2RG were updated from to 30847515
Severe Paediatric Disorders v0.11 IL2RA Louise Daugherty Publications for gene IL2RA were updated from to 30847515
Severe Paediatric Disorders v0.11 IL21R Louise Daugherty Publications for gene IL21R were updated from to 30847515
Severe Paediatric Disorders v0.11 IL1RN Louise Daugherty Publications for gene IL1RN were updated from to 30847515
Severe Paediatric Disorders v0.11 IL1RAPL1 Louise Daugherty Publications for gene IL1RAPL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL17RC Louise Daugherty Publications for gene IL17RC were updated from to 30847515
Severe Paediatric Disorders v0.11 IL17RA Louise Daugherty Publications for gene IL17RA were updated from to 30847515
Severe Paediatric Disorders v0.11 IL12RB1 Louise Daugherty Publications for gene IL12RB1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IL12B Louise Daugherty Publications for gene IL12B were updated from to 30847515
Severe Paediatric Disorders v0.11 IL11RA Louise Daugherty Publications for gene IL11RA were updated from to 30847515
Severe Paediatric Disorders v0.11 IL10RB Louise Daugherty Publications for gene IL10RB were updated from to 30847515
Severe Paediatric Disorders v0.11 IL10RA Louise Daugherty Publications for gene IL10RA were updated from to 30847515
Severe Paediatric Disorders v0.11 IKZF1 Louise Daugherty Publications for gene IKZF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IKBKG Louise Daugherty Publications for gene IKBKG were updated from to 30847515
Severe Paediatric Disorders v0.11 IKBKB Louise Daugherty Publications for gene IKBKB were updated from to 30847515
Severe Paediatric Disorders v0.11 IHH Louise Daugherty Publications for gene IHH were updated from to 30847515
Severe Paediatric Disorders v0.11 IGSF1 Louise Daugherty Publications for gene IGSF1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IGLL1 Louise Daugherty Publications for gene IGLL1 were updated from to 30847515
Severe Paediatric Disorders v0.11 IGKC Louise Daugherty Publications for gene IGKC were updated from to 30847515