20 Feb 2020
Severe Paediatric Disorders v0.11
IGKC
Louise Daugherty Publications for gene IGKC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IGHMBP2
Louise Daugherty Publications for gene IGHMBP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IGHM
Louise Daugherty Publications for gene IGHM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IGFALS
Louise Daugherty Publications for gene IGFALS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IGF2
Louise Daugherty Publications for gene IGF2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IGF1R
Louise Daugherty Publications for gene IGF1R were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IGF1
Louise Daugherty Publications for gene IGF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT81
Louise Daugherty Publications for gene IFT81 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT80
Louise Daugherty Publications for gene IFT80 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT52
Louise Daugherty Publications for gene IFT52 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT43
Louise Daugherty Publications for gene IFT43 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT172
Louise Daugherty Publications for gene IFT172 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT140
Louise Daugherty Publications for gene IFT140 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFT122
Louise Daugherty Publications for gene IFT122 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFNGR2
Louise Daugherty Publications for gene IFNGR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFNGR1
Louise Daugherty Publications for gene IFNGR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFITM5
Louise Daugherty Publications for gene IFITM5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IFIH1
Louise Daugherty Publications for gene IFIH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IER3IP1
Louise Daugherty Publications for gene IER3IP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IDUA
Louise Daugherty Publications for gene IDUA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IDS
Louise Daugherty Publications for gene IDS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IDH2
Louise Daugherty Publications for gene IDH2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ICOS
Louise Daugherty Publications for gene ICOS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IBA57
Louise Daugherty Publications for gene IBA57 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IARS2
Louise Daugherty Publications for gene IARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
IARS
Louise Daugherty Publications for gene IARS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HYLS1
Louise Daugherty Publications for gene HYLS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HYDIN
Louise Daugherty Publications for gene HYDIN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HUWE1
Louise Daugherty Publications for gene HUWE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HTT
Louise Daugherty Publications for gene HTT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HTRA2
Louise Daugherty Publications for gene HTRA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HTRA1
Louise Daugherty Publications for gene HTRA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSPG2
Louise Daugherty Publications for gene HSPG2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSPD1
Louise Daugherty Publications for gene HSPD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSPB8
Louise Daugherty Publications for gene HSPB8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSPB1
Louise Daugherty Publications for gene HSPB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSF4
Louise Daugherty Publications for gene HSF4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSD3B7
Louise Daugherty Publications for gene HSD3B7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSD17B4
Louise Daugherty Publications for gene HSD17B4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSD17B3
Louise Daugherty Publications for gene HSD17B3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HSD17B10
Louise Daugherty Publications for gene HSD17B10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HRAS
Louise Daugherty Publications for gene HRAS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HR
Louise Daugherty Publications for gene HR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPSE2
Louise Daugherty Publications for gene HPSE2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPS6
Louise Daugherty Publications for gene HPS6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPS5
Louise Daugherty Publications for gene HPS5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPS4
Louise Daugherty Publications for gene HPS4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPS3
Louise Daugherty Publications for gene HPS3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPS1
Louise Daugherty Publications for gene HPS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPRT1
Louise Daugherty Publications for gene HPRT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPGD
Louise Daugherty Publications for gene HPGD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPD
Louise Daugherty Publications for gene HPD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HPCA
Louise Daugherty Publications for gene HPCA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HOXD13
Louise Daugherty Publications for gene HOXD13 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HOXC13
Louise Daugherty Publications for gene HOXC13 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HOXA13
Louise Daugherty Publications for gene HOXA13 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HOXA11
Louise Daugherty Publications for gene HOXA11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HOXA1
Louise Daugherty Publications for gene HOXA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HOGA1
Louise Daugherty Publications for gene HOGA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HNRNPU
Louise Daugherty Publications for gene HNRNPU were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HNRNPK
Louise Daugherty Publications for gene HNRNPK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HNRNPH2
Louise Daugherty Publications for gene HNRNPH2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HNRNPH1
Louise Daugherty Publications for gene HNRNPH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HNF4A
Louise Daugherty Publications for gene HNF4A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HNF1B
Louise Daugherty Publications for gene HNF1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HMGCS2
Louise Daugherty Publications for gene HMGCS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HMGCL
Louise Daugherty Publications for gene HMGCL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HMBS
Louise Daugherty Publications for gene HMBS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HLCS
Louise Daugherty Publications for gene HLCS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HK1
Louise Daugherty Publications for gene HK1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HFE2
Louise Daugherty Publications for gene HFE2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HIVEP2
Louise Daugherty Publications for gene HIVEP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HINT1
Louise Daugherty Publications for gene HINT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HIBCH
Louise Daugherty Publications for gene HIBCH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HGSNAT
Louise Daugherty Publications for gene HGSNAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HGD
Louise Daugherty Publications for gene HGD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HFE
Louise Daugherty Publications for gene HFE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HEXB
Louise Daugherty Publications for gene HEXB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HEXA
Louise Daugherty Publications for gene HEXA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HESX1
Louise Daugherty Publications for gene HESX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HES7
Louise Daugherty Publications for gene HES7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HERC1
Louise Daugherty Publications for gene HERC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HEPACAM
Louise Daugherty Publications for gene HEPACAM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HELLS
Louise Daugherty Publications for gene HELLS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HECW2
Louise Daugherty Publications for gene HECW2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HDAC8
Louise Daugherty Publications for gene HDAC8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HDAC4
Louise Daugherty Publications for gene HDAC4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HCN2
Louise Daugherty Publications for gene HCN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HCN1
Louise Daugherty Publications for gene HCN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HCFC1
Louise Daugherty Publications for gene HCFC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HCCS
Louise Daugherty Publications for gene HCCS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HBB
Louise Daugherty Publications for gene HBB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HBA2
Louise Daugherty Publications for gene HBA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HBA1
Louise Daugherty Publications for gene HBA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HAX1
Louise Daugherty Publications for gene HAX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HAMP
Louise Daugherty Publications for gene HAMP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HADHB
Louise Daugherty Publications for gene HADHB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HADHA
Louise Daugherty Publications for gene HADHA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HADH
Louise Daugherty Publications for gene HADH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HACE1
Louise Daugherty Publications for gene HACE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HAAO
Louise Daugherty Publications for gene HAAO were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
H19
Louise Daugherty Publications for gene H19 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
HIST1H1E
Louise Daugherty Publications for gene HIST1H1E were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GZF1
Louise Daugherty Publications for gene GZF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GYS2
Louise Daugherty Publications for gene GYS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GYS1
Louise Daugherty Publications for gene GYS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GYG1
Louise Daugherty Publications for gene GYG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GUSB
Louise Daugherty Publications for gene GUSB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GUCY2C
Louise Daugherty Publications for gene GUCY2C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GTPBP3
Louise Daugherty Publications for gene GTPBP3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GTPBP2
Louise Daugherty Publications for gene GTPBP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GTF2H5
Louise Daugherty Publications for gene GTF2H5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GSS
Louise Daugherty Publications for gene GSS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DFNA5
Louise Daugherty Publications for gene DFNA5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GSC
Louise Daugherty Publications for gene GSC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRN
Louise Daugherty Publications for gene GRN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRM6
Louise Daugherty Publications for gene GRM6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRM1
Louise Daugherty Publications for gene GRM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIP1
Louise Daugherty Publications for gene GRIP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIN2D
Louise Daugherty Publications for gene GRIN2D were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIN2B
Louise Daugherty Publications for gene GRIN2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIN2A
Louise Daugherty Publications for gene GRIN2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIN1
Louise Daugherty Publications for gene GRIN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIK2
Louise Daugherty Publications for gene GRIK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRID2
Louise Daugherty Publications for gene GRID2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIA4
Louise Daugherty Publications for gene GRIA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIA3
Louise Daugherty Publications for gene GRIA3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRIA2
Louise Daugherty Publications for gene GRIA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRHPR
Louise Daugherty Publications for gene GRHPR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GRHL3
Louise Daugherty Publications for gene GRHL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPT2
Louise Daugherty Publications for gene GPT2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPSM2
Louise Daugherty Publications for gene GPSM2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPR179
Louise Daugherty Publications for gene GPR179 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPR143
Louise Daugherty Publications for gene GPR143 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPI
Louise Daugherty Publications for gene GPI were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPHN
Louise Daugherty Publications for gene GPHN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPD1
Louise Daugherty Publications for gene GPD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPC6
Louise Daugherty Publications for gene GPC6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPC3
Louise Daugherty Publications for gene GPC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GPAA1
Louise Daugherty Publications for gene GPAA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GP9
Louise Daugherty Publications for gene GP9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GP6
Louise Daugherty Publications for gene GP6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GP1BB
Louise Daugherty Publications for gene GP1BB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GP1BA
Louise Daugherty Publications for gene GP1BA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GOSR2
Louise Daugherty Publications for gene GOSR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GORAB
Louise Daugherty Publications for gene GORAB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNS
Louise Daugherty Publications for gene GNS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNPTG
Louise Daugherty Publications for gene GNPTG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNPTAB
Louise Daugherty Publications for gene GNPTAB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNPAT
Louise Daugherty Publications for gene GNPAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNMT
Louise Daugherty Publications for gene GNMT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNE
Louise Daugherty Publications for gene GNE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNB5
Louise Daugherty Publications for gene GNB5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNB1
Louise Daugherty Publications for gene GNB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNAS
Louise Daugherty Publications for gene GNAS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNAO1
Louise Daugherty Publications for gene GNAO1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNAL
Louise Daugherty Publications for gene GNAL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNAI3
Louise Daugherty Publications for gene GNAI3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GNAI1
Louise Daugherty Publications for gene GNAI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GMPPB
Louise Daugherty Publications for gene GMPPB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GMPPA
Louise Daugherty Publications for gene GMPPA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GMNN
Louise Daugherty Publications for gene GMNN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GM2A
Louise Daugherty Publications for gene GM2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLYCTK
Louise Daugherty Publications for gene GLYCTK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLUL
Louise Daugherty Publications for gene GLUL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLUD1
Louise Daugherty Publications for gene GLUD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLRX5
Louise Daugherty Publications for gene GLRX5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLRB
Louise Daugherty Publications for gene GLRB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLRA1
Louise Daugherty Publications for gene GLRA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLMN
Louise Daugherty Publications for gene GLMN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLIS3
Louise Daugherty Publications for gene GLIS3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLI3
Louise Daugherty Publications for gene GLI3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLI2
Louise Daugherty Publications for gene GLI2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLI1
Louise Daugherty Publications for gene GLI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLE1
Louise Daugherty Publications for gene GLE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLDN
Louise Daugherty Publications for gene GLDN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLDC
Louise Daugherty Publications for gene GLDC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLB1
Louise Daugherty Publications for gene GLB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GLA
Louise Daugherty Publications for gene GLA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GK
Louise Daugherty Publications for gene GK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJC2
Louise Daugherty Publications for gene GJC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJB3
Louise Daugherty Publications for gene GJB3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJB2
Louise Daugherty Publications for gene GJB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJB1
Louise Daugherty Publications for gene GJB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJA8
Louise Daugherty Publications for gene GJA8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJA3
Louise Daugherty Publications for gene GJA3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GJA1
Louise Daugherty Publications for gene GJA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GIPC3
Louise Daugherty Publications for gene GIPC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GINS1
Louise Daugherty Publications for gene GINS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GHRHR
Louise Daugherty Publications for gene GHRHR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GHR
Louise Daugherty Publications for gene GHR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GH1
Louise Daugherty Publications for gene GH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GGCX
Louise Daugherty Publications for gene GGCX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFPT1
Louise Daugherty Publications for gene GFPT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFM2
Louise Daugherty Publications for gene GFM2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFM1
Louise Daugherty Publications for gene GFM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFI1B
Louise Daugherty Publications for gene GFI1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFER
Louise Daugherty Publications for gene GFER were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GFAP
Louise Daugherty Publications for gene GFAP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GDI1
Louise Daugherty Publications for gene GDI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GDF6
Louise Daugherty Publications for gene GDF6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GDF5
Louise Daugherty Publications for gene GDF5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GDAP1
Louise Daugherty Publications for gene GDAP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GCLC
Louise Daugherty Publications for gene GCLC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GCK
Louise Daugherty Publications for gene GCK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GCH1
Louise Daugherty Publications for gene GCH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GCDH
Louise Daugherty Publications for gene GCDH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GBE1
Louise Daugherty Publications for gene GBE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GBA2
Louise Daugherty Publications for gene GBA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GBA
Louise Daugherty Publications for gene GBA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATM
Louise Daugherty Publications for gene GATM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATAD2B
Louise Daugherty Publications for gene GATAD2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATA6
Louise Daugherty Publications for gene GATA6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATA4
Louise Daugherty Publications for gene GATA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATA3
Louise Daugherty Publications for gene GATA3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATA2
Louise Daugherty Publications for gene GATA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GATA1
Louise Daugherty Publications for gene GATA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GAS8
Louise Daugherty Publications for gene GAS8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GARS
Louise Daugherty Publications for gene GARS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GANAB
Louise Daugherty Publications for gene GANAB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GAN
Louise Daugherty Publications for gene GAN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GAMT
Louise Daugherty Publications for gene GAMT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GALT
Louise Daugherty Publications for gene GALT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GALNT3
Louise Daugherty Publications for gene GALNT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GALNS
Louise Daugherty Publications for gene GALNS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GALK1
Louise Daugherty Publications for gene GALK1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GALE
Louise Daugherty Publications for gene GALE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GALC
Louise Daugherty Publications for gene GALC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GABRG2
Louise Daugherty Publications for gene GABRG2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GABRB3
Louise Daugherty Publications for gene GABRB3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GABRB2
Louise Daugherty Publications for gene GABRB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GABRA2
Louise Daugherty Publications for gene GABRA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GABRA1
Louise Daugherty Publications for gene GABRA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GABBR2
Louise Daugherty Publications for gene GABBR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GAA
Louise Daugherty Publications for gene GAA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
G6PD
Louise Daugherty Publications for gene G6PD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
G6PC3
Louise Daugherty Publications for gene G6PC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
G6PC
Louise Daugherty Publications for gene G6PC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FZD6
Louise Daugherty Publications for gene FZD6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FZD2
Louise Daugherty Publications for gene FZD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FYCO1
Louise Daugherty Publications for gene FYCO1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FYB1
Louise Daugherty Publications for gene FYB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FXN
Louise Daugherty Publications for gene FXN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FUT8
Louise Daugherty Publications for gene FUT8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FUCA1
Louise Daugherty Publications for gene FUCA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FTSJ1
Louise Daugherty Publications for gene FTSJ1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FTL
Louise Daugherty Publications for gene FTL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FTCD
Louise Daugherty Publications for gene FTCD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FRRS1L
Louise Daugherty Publications for gene FRRS1L were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FRMPD4
Louise Daugherty Publications for gene FRMPD4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FRMD7
Louise Daugherty Publications for gene FRMD7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FREM2
Louise Daugherty Publications for gene FREM2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FREM1
Louise Daugherty Publications for gene FREM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FRAS1
Louise Daugherty Publications for gene FRAS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXRED1
Louise Daugherty Publications for gene FOXRED1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXP3
Louise Daugherty Publications for gene FOXP3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXP2
Louise Daugherty Publications for gene FOXP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXP1
Louise Daugherty Publications for gene FOXP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXN1
Louise Daugherty Publications for gene FOXN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXG1
Louise Daugherty Publications for gene FOXG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXF1
Louise Daugherty Publications for gene FOXF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXE3
Louise Daugherty Publications for gene FOXE3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXE1
Louise Daugherty Publications for gene FOXE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXC2
Louise Daugherty Publications for gene FOXC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOXC1
Louise Daugherty Publications for gene FOXC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FOLR1
Louise Daugherty Publications for gene FOLR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FN1
Louise Daugherty Publications for gene FN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FMR1
Louise Daugherty Publications for gene FMR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FMO3
Louise Daugherty Publications for gene FMO3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FMN2
Louise Daugherty Publications for gene FMN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLVCR2
Louise Daugherty Publications for gene FLVCR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLVCR1
Louise Daugherty Publications for gene FLVCR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLT4
Louise Daugherty Publications for gene FLT4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLNC
Louise Daugherty Publications for gene FLNC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLNB
Louise Daugherty Publications for gene FLNB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLNA
Louise Daugherty Publications for gene FLNA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLI1
Louise Daugherty Publications for gene FLI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLCN
Louise Daugherty Publications for gene FLCN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FLAD1
Louise Daugherty Publications for gene FLAD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FKTN
Louise Daugherty Publications for gene FKTN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FKRP
Louise Daugherty Publications for gene FKRP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FKBP14
Louise Daugherty Publications for gene FKBP14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FKBP10
Louise Daugherty Publications for gene FKBP10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FIG4
Louise Daugherty Publications for gene FIG4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FHL1
Louise Daugherty Publications for gene FHL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FH
Louise Daugherty Publications for gene FH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGG
Louise Daugherty Publications for gene FGG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGFR3
Louise Daugherty Publications for gene FGFR3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGFR2
Louise Daugherty Publications for gene FGFR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGFR1
Louise Daugherty Publications for gene FGFR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF8
Louise Daugherty Publications for gene FGF8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF3
Louise Daugherty Publications for gene FGF3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF23
Louise Daugherty Publications for gene FGF23 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF16
Louise Daugherty Publications for gene FGF16 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF14
Louise Daugherty Publications for gene FGF14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF12
Louise Daugherty Publications for gene FGF12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGF10
Louise Daugherty Publications for gene FGF10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGD4
Louise Daugherty Publications for gene FGD4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGD1
Louise Daugherty Publications for gene FGD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGB
Louise Daugherty Publications for gene FGB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FGA
Louise Daugherty Publications for gene FGA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FERMT3
Louise Daugherty Publications for gene FERMT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FECH
Louise Daugherty Publications for gene FECH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FDXR
Louise Daugherty Publications for gene FDXR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FDX2
Louise Daugherty Publications for gene FDX2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FCN3
Louise Daugherty Publications for gene FCN3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FCGR3B
Louise Daugherty Publications for gene FCGR3B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FCGR3A
Louise Daugherty Publications for gene FCGR3A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBXO7
Louise Daugherty Publications for gene FBXO7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBXO11
Louise Daugherty Publications for gene FBXO11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBXL4
Louise Daugherty Publications for gene FBXL4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBXL3
Louise Daugherty Publications for gene FBXL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBP1
Louise Daugherty Publications for gene FBP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBN2
Louise Daugherty Publications for gene FBN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBN1
Louise Daugherty Publications for gene FBN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FBLN5
Louise Daugherty Publications for gene FBLN5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAT4
Louise Daugherty Publications for gene FAT4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FASLG
Louise Daugherty Publications for gene FASLG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAS
Louise Daugherty Publications for gene FAS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FARS2
Louise Daugherty Publications for gene FARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAR1
Louise Daugherty Publications for gene FAR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCL
Louise Daugherty Publications for gene FANCL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCI
Louise Daugherty Publications for gene FANCI were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCG
Louise Daugherty Publications for gene FANCG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCF
Louise Daugherty Publications for gene FANCF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCE
Louise Daugherty Publications for gene FANCE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCD2
Louise Daugherty Publications for gene FANCD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCC
Louise Daugherty Publications for gene FANCC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCB
Louise Daugherty Publications for gene FANCB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FANCA
Louise Daugherty Publications for gene FANCA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM20C
Louise Daugherty Publications for gene FAM20C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM20A
Louise Daugherty Publications for gene FAM20A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM161A
Louise Daugherty Publications for gene FAM161A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM126A
Louise Daugherty Publications for gene FAM126A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM111B
Louise Daugherty Publications for gene FAM111B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM111A
Louise Daugherty Publications for gene FAM111A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAH
Louise Daugherty Publications for gene FAH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FADD
Louise Daugherty Publications for gene FADD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FA2H
Louise Daugherty Publications for gene FA2H were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F9
Louise Daugherty Publications for gene F9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F8
Louise Daugherty Publications for gene F8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F7
Louise Daugherty Publications for gene F7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F5
Louise Daugherty Publications for gene F5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F2
Louise Daugherty Publications for gene F2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F13B
Louise Daugherty Publications for gene F13B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F13A1
Louise Daugherty Publications for gene F13A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F12
Louise Daugherty Publications for gene F12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F11
Louise Daugherty Publications for gene F11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
F10
Louise Daugherty Publications for gene F10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EZH2
Louise Daugherty Publications for gene EZH2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EYA4
Louise Daugherty Publications for gene EYA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EYA1
Louise Daugherty Publications for gene EYA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EXTL3
Louise Daugherty Publications for gene EXTL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EXT2
Louise Daugherty Publications for gene EXT2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EXT1
Louise Daugherty Publications for gene EXT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EXOSC3
Louise Daugherty Publications for gene EXOSC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EVC2
Louise Daugherty Publications for gene EVC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EVC
Louise Daugherty Publications for gene EVC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ETV6
Louise Daugherty Publications for gene ETV6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ETHE1
Louise Daugherty Publications for gene ETHE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ETFDH
Louise Daugherty Publications for gene ETFDH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ETFB
Louise Daugherty Publications for gene ETFB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ETFA
Louise Daugherty Publications for gene ETFA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ESRRB
Louise Daugherty Publications for gene ESRRB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ESCO2
Louise Daugherty Publications for gene ESCO2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERLIN2
Louise Daugherty Publications for gene ERLIN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERLIN1
Louise Daugherty Publications for gene ERLIN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERF
Louise Daugherty Publications for gene ERF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC8
Louise Daugherty Publications for gene ERCC8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC6L2
Louise Daugherty Publications for gene ERCC6L2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC6
Louise Daugherty Publications for gene ERCC6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC5
Louise Daugherty Publications for gene ERCC5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC4
Louise Daugherty Publications for gene ERCC4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC3
Louise Daugherty Publications for gene ERCC3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC2
Louise Daugherty Publications for gene ERCC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ERCC1
Louise Daugherty Publications for gene ERCC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EPRS
Louise Daugherty Publications for gene EPRS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EPM2A
Louise Daugherty Publications for gene EPM2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EPHB4
Louise Daugherty Publications for gene EPHB4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EPG5
Louise Daugherty Publications for gene EPG5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EPB42
Louise Daugherty Publications for gene EPB42 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EPB41
Louise Daugherty Publications for gene EPB41 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EP300
Louise Daugherty Publications for gene EP300 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EOGT
Louise Daugherty Publications for gene EOGT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ENTPD1
Louise Daugherty Publications for gene ENTPD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ENPP1
Louise Daugherty Publications for gene ENPP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ENO3
Louise Daugherty Publications for gene ENO3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ENG
Louise Daugherty Publications for gene ENG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EMX2
Louise Daugherty Publications for gene EMX2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EML1
Louise Daugherty Publications for gene EML1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EMD
Louise Daugherty Publications for gene EMD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EMC1
Louise Daugherty Publications for gene EMC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELP2
Louise Daugherty Publications for gene ELP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELP1
Louise Daugherty Publications for gene ELP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELOVL5
Louise Daugherty Publications for gene ELOVL5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELOVL4
Louise Daugherty Publications for gene ELOVL4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELN
Louise Daugherty Publications for gene ELN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELANE
Louise Daugherty Publications for gene ELANE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ELAC2
Louise Daugherty Publications for gene ELAC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF4A3
Louise Daugherty Publications for gene EIF4A3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF3F
Louise Daugherty Publications for gene EIF3F were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2S3
Louise Daugherty Publications for gene EIF2S3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2B5
Louise Daugherty Publications for gene EIF2B5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2B4
Louise Daugherty Publications for gene EIF2B4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2B3
Louise Daugherty Publications for gene EIF2B3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2B2
Louise Daugherty Publications for gene EIF2B2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2B1
Louise Daugherty Publications for gene EIF2B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EIF2AK3
Louise Daugherty Publications for gene EIF2AK3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EHMT1
Louise Daugherty Publications for gene EHMT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EGR2
Louise Daugherty Publications for gene EGR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EFTUD2
Louise Daugherty Publications for gene EFTUD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EFNB1
Louise Daugherty Publications for gene EFNB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EFHC1
Louise Daugherty Publications for gene EFHC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EEF1A2
Louise Daugherty Publications for gene EEF1A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EED
Louise Daugherty Publications for gene EED were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EDNRB
Louise Daugherty Publications for gene EDNRB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EDNRA
Louise Daugherty Publications for gene EDNRA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EDARADD
Louise Daugherty Publications for gene EDARADD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EDAR
Louise Daugherty Publications for gene EDAR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EDA
Louise Daugherty Publications for gene EDA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ECHS1
Louise Daugherty Publications for gene ECHS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ECEL1
Louise Daugherty Publications for gene ECEL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EBP
Louise Daugherty Publications for gene EBP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EBF3
Louise Daugherty Publications for gene EBF3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
EARS2
Louise Daugherty Publications for gene EARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DZIP1L
Louise Daugherty Publications for gene DZIP1L were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DYSF
Louise Daugherty Publications for gene DYSF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DYRK1A
Louise Daugherty Publications for gene DYRK1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DYNC2LI1
Louise Daugherty Publications for gene DYNC2LI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DYNC2H1
Louise Daugherty Publications for gene DYNC2H1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DYNC1H1
Louise Daugherty Publications for gene DYNC1H1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DYM
Louise Daugherty Publications for gene DYM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DVL3
Louise Daugherty Publications for gene DVL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DVL1
Louise Daugherty Publications for gene DVL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DUOX2
Louise Daugherty Publications for gene DUOX2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DTNBP1
Louise Daugherty Publications for gene DTNBP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DSTYK
Louise Daugherty Publications for gene DSTYK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DSPP
Louise Daugherty Publications for gene DSPP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DSP
Louise Daugherty Publications for gene DSP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPYS
Louise Daugherty Publications for gene DPYS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPYD
Louise Daugherty Publications for gene DPYD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPP6
Louise Daugherty Publications for gene DPP6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPM3
Louise Daugherty Publications for gene DPM3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPM2
Louise Daugherty Publications for gene DPM2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPM1
Louise Daugherty Publications for gene DPM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPH1
Louise Daugherty Publications for gene DPH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPF2
Louise Daugherty Publications for gene DPF2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DPAGT1
Louise Daugherty Publications for gene DPAGT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DONSON
Louise Daugherty Publications for gene DONSON were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOLK
Louise Daugherty Publications for gene DOLK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOK7
Louise Daugherty Publications for gene DOK7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOCK8
Louise Daugherty Publications for gene DOCK8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOCK7
Louise Daugherty Publications for gene DOCK7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOCK6
Louise Daugherty Publications for gene DOCK6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOCK3
Louise Daugherty Publications for gene DOCK3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DOCK2
Louise Daugherty Publications for gene DOCK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNMT3B
Louise Daugherty Publications for gene DNMT3B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNMT3A
Louise Daugherty Publications for gene DNMT3A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNMT1
Louise Daugherty Publications for gene DNMT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNM2
Louise Daugherty Publications for gene DNM2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNM1L
Louise Daugherty Publications for gene DNM1L were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNM1
Louise Daugherty Publications for gene DNM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNASE2
Louise Daugherty Publications for gene DNASE2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAJC5
Louise Daugherty Publications for gene DNAJC5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAJC21
Louise Daugherty Publications for gene DNAJC21 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAJC19
Louise Daugherty Publications for gene DNAJC19 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAJC12
Louise Daugherty Publications for gene DNAJC12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAJB6
Louise Daugherty Publications for gene DNAJB6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAJB11
Louise Daugherty Publications for gene DNAJB11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAI1
Louise Daugherty Publications for gene DNAI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAH9
Louise Daugherty Publications for gene DNAH9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAH5
Louise Daugherty Publications for gene DNAH5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAH11
Louise Daugherty Publications for gene DNAH11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAAF4
Louise Daugherty Publications for gene DNAAF4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAAF3
Louise Daugherty Publications for gene DNAAF3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNAAF1
Louise Daugherty Publications for gene DNAAF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DNA2
Louise Daugherty Publications for gene DNA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DMPK
Louise Daugherty Publications for gene DMPK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DMP1
Louise Daugherty Publications for gene DMP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DMD
Louise Daugherty Publications for gene DMD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLX5
Louise Daugherty Publications for gene DLX5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLX3
Louise Daugherty Publications for gene DLX3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLL4
Louise Daugherty Publications for gene DLL4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLL3
Louise Daugherty Publications for gene DLL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLG4
Louise Daugherty Publications for gene DLG4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLG3
Louise Daugherty Publications for gene DLG3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLD
Louise Daugherty Publications for gene DLD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DLAT
Louise Daugherty Publications for gene DLAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DKC1
Louise Daugherty Publications for gene DKC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DISP1
Louise Daugherty Publications for gene DISP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DIS3L2
Louise Daugherty Publications for gene DIS3L2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DIAPH1
Louise Daugherty Publications for gene DIAPH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHX30
Louise Daugherty Publications for gene DHX30 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHTKD1
Louise Daugherty Publications for gene DHTKD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHPS
Louise Daugherty Publications for gene DHPS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHODH
Louise Daugherty Publications for gene DHODH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHFR
Louise Daugherty Publications for gene DHFR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHDDS
Louise Daugherty Publications for gene DHDDS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHCR7
Louise Daugherty Publications for gene DHCR7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DHCR24
Louise Daugherty Publications for gene DHCR24 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DGUOK
Louise Daugherty Publications for gene DGUOK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DGKE
Louise Daugherty Publications for gene DGKE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DES
Louise Daugherty Publications for gene DES were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DEPDC5
Louise Daugherty Publications for gene DEPDC5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DENND5A
Louise Daugherty Publications for gene DENND5A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DEGS1
Louise Daugherty Publications for gene DEGS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DEAF1
Louise Daugherty Publications for gene DEAF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDX59
Louise Daugherty Publications for gene DDX59 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDX3X
Louise Daugherty Publications for gene DDX3X were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDX11
Louise Daugherty Publications for gene DDX11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDR2
Louise Daugherty Publications for gene DDR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDHD2
Louise Daugherty Publications for gene DDHD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDHD1
Louise Daugherty Publications for gene DDHD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDC
Louise Daugherty Publications for gene DDC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DDB2
Louise Daugherty Publications for gene DDB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCX
Louise Daugherty Publications for gene DCX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCTN1
Louise Daugherty Publications for gene DCTN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCPS
Louise Daugherty Publications for gene DCPS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCLRE1C
Louise Daugherty Publications for gene DCLRE1C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCLRE1B
Louise Daugherty Publications for gene DCLRE1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCHS1
Louise Daugherty Publications for gene DCHS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCDC2
Louise Daugherty Publications for gene DCDC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCC
Louise Daugherty Publications for gene DCC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DCAF17
Louise Daugherty Publications for gene DCAF17 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DBT
Louise Daugherty Publications for gene DBT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DBH
Louise Daugherty Publications for gene DBH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DARS2
Louise Daugherty Publications for gene DARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DARS
Louise Daugherty Publications for gene DARS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DAG1
Louise Daugherty Publications for gene DAG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
DAB1
Louise Daugherty Publications for gene DAB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
D2HGDH
Louise Daugherty Publications for gene D2HGDH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP7B1
Louise Daugherty Publications for gene CYP7B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP4F22
Louise Daugherty Publications for gene CYP4F22 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP2U1
Louise Daugherty Publications for gene CYP2U1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP27B1
Louise Daugherty Publications for gene CYP27B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP27A1
Louise Daugherty Publications for gene CYP27A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP21A2
Louise Daugherty Publications for gene CYP21A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP1B1
Louise Daugherty Publications for gene CYP1B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP17A1
Louise Daugherty Publications for gene CYP17A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP11B1
Louise Daugherty Publications for gene CYP11B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYP11A1
Louise Daugherty Publications for gene CYP11A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYFIP2
Louise Daugherty Publications for gene CYFIP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYCS
Louise Daugherty Publications for gene CYCS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYC1
Louise Daugherty Publications for gene CYC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYBB
Louise Daugherty Publications for gene CYBB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYBA
Louise Daugherty Publications for gene CYBA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CYB5R3
Louise Daugherty Publications for gene CYB5R3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CXCR4
Louise Daugherty Publications for gene CXCR4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CWF19L1
Louise Daugherty Publications for gene CWF19L1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CWC27
Louise Daugherty Publications for gene CWC27 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CUX2
Louise Daugherty Publications for gene CUX2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CUX1
Louise Daugherty Publications for gene CUX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CUL7
Louise Daugherty Publications for gene CUL7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CUL4B
Louise Daugherty Publications for gene CUL4B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CUBN
Louise Daugherty Publications for gene CUBN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTSK
Louise Daugherty Publications for gene CTSK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTSF
Louise Daugherty Publications for gene CTSF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTSD
Louise Daugherty Publications for gene CTSD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTSC
Louise Daugherty Publications for gene CTSC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTSA
Louise Daugherty Publications for gene CTSA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTPS1
Louise Daugherty Publications for gene CTPS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTNS
Louise Daugherty Publications for gene CTNS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTNND1
Louise Daugherty Publications for gene CTNND1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTNNB1
Louise Daugherty Publications for gene CTNNB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTNNA2
Louise Daugherty Publications for gene CTNNA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTLA4
Louise Daugherty Publications for gene CTLA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTH
Louise Daugherty Publications for gene CTH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTDP1
Louise Daugherty Publications for gene CTDP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTCF
Louise Daugherty Publications for gene CTCF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTC1
Louise Daugherty Publications for gene CTC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CTBP1
Louise Daugherty Publications for gene CTBP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSTB
Louise Daugherty Publications for gene CSTB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSPP1
Louise Daugherty Publications for gene CSPP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSNK2B
Louise Daugherty Publications for gene CSNK2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSNK2A1
Louise Daugherty Publications for gene CSNK2A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSF3R
Louise Daugherty Publications for gene CSF3R were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSF2RB
Louise Daugherty Publications for gene CSF2RB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSF2RA
Louise Daugherty Publications for gene CSF2RA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CSF1R
Louise Daugherty Publications for gene CSF1R were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYGD
Louise Daugherty Publications for gene CRYGD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYGC
Louise Daugherty Publications for gene CRYGC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYBB3
Louise Daugherty Publications for gene CRYBB3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYBB2
Louise Daugherty Publications for gene CRYBB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYBB1
Louise Daugherty Publications for gene CRYBB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYBA4
Louise Daugherty Publications for gene CRYBA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYBA1
Louise Daugherty Publications for gene CRYBA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYAB
Louise Daugherty Publications for gene CRYAB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRYAA
Louise Daugherty Publications for gene CRYAA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRX
Louise Daugherty Publications for gene CRX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRTAP
Louise Daugherty Publications for gene CRTAP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ISPD
Louise Daugherty Publications for gene ISPD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRLF1
Louise Daugherty Publications for gene CRLF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRIPT
Louise Daugherty Publications for gene CRIPT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CREBBP
Louise Daugherty Publications for gene CREBBP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRB2
Louise Daugherty Publications for gene CRB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRB1
Louise Daugherty Publications for gene CRB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CRADD
Louise Daugherty Publications for gene CRADD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CR2
Louise Daugherty Publications for gene CR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CPT2
Louise Daugherty Publications for gene CPT2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CPT1A
Louise Daugherty Publications for gene CPT1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CPS1
Louise Daugherty Publications for gene CPS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CPOX
Louise Daugherty Publications for gene CPOX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C5orf42
Louise Daugherty Publications for gene C5orf42 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CPA6
Louise Daugherty Publications for gene CPA6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CP
Louise Daugherty Publications for gene CP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX7B
Louise Daugherty Publications for gene COX7B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX6B1
Louise Daugherty Publications for gene COX6B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX6A1
Louise Daugherty Publications for gene COX6A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX20
Louise Daugherty Publications for gene COX20 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX15
Louise Daugherty Publications for gene COX15 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COX10
Louise Daugherty Publications for gene COX10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CORO1A
Louise Daugherty Publications for gene CORO1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ9
Louise Daugherty Publications for gene COQ9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ8B
Louise Daugherty Publications for gene COQ8B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ8A
Louise Daugherty Publications for gene COQ8A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ6
Louise Daugherty Publications for gene COQ6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ4
Louise Daugherty Publications for gene COQ4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COQ2
Louise Daugherty Publications for gene COQ2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COPA
Louise Daugherty Publications for gene COPA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COMP
Louise Daugherty Publications for gene COMP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COLQ
Louise Daugherty Publications for gene COLQ were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COLEC11
Louise Daugherty Publications for gene COLEC11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COLEC10
Louise Daugherty Publications for gene COLEC10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL9A3
Louise Daugherty Publications for gene COL9A3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL9A2
Louise Daugherty Publications for gene COL9A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL9A1
Louise Daugherty Publications for gene COL9A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL7A1
Louise Daugherty Publications for gene COL7A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL6A3
Louise Daugherty Publications for gene COL6A3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL6A2
Louise Daugherty Publications for gene COL6A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL6A1
Louise Daugherty Publications for gene COL6A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL5A2
Louise Daugherty Publications for gene COL5A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL5A1
Louise Daugherty Publications for gene COL5A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL4A5
Louise Daugherty Publications for gene COL4A5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL4A4
Louise Daugherty Publications for gene COL4A4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL4A3
Louise Daugherty Publications for gene COL4A3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL4A2
Louise Daugherty Publications for gene COL4A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL4A1
Louise Daugherty Publications for gene COL4A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL3A1
Louise Daugherty Publications for gene COL3A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL2A1
Louise Daugherty Publications for gene COL2A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL1A2
Louise Daugherty Publications for gene COL1A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL1A1
Louise Daugherty Publications for gene COL1A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL18A1
Louise Daugherty Publications for gene COL18A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL17A1
Louise Daugherty Publications for gene COL17A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL13A1
Louise Daugherty Publications for gene COL13A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL12A1
Louise Daugherty Publications for gene COL12A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL11A2
Louise Daugherty Publications for gene COL11A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL11A1
Louise Daugherty Publications for gene COL11A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL10A1
Louise Daugherty Publications for gene COL10A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COG8
Louise Daugherty Publications for gene COG8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COG7
Louise Daugherty Publications for gene COG7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COG6
Louise Daugherty Publications for gene COG6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COG5
Louise Daugherty Publications for gene COG5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COG4
Louise Daugherty Publications for gene COG4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COG1
Louise Daugherty Publications for gene COG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COCH
Louise Daugherty Publications for gene COCH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COASY
Louise Daugherty Publications for gene COASY were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOPT1
Louise Daugherty Publications for gene APOPT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COA7
Louise Daugherty Publications for gene COA7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COA6
Louise Daugherty Publications for gene COA6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNTNAP2
Louise Daugherty Publications for gene CNTNAP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNTNAP1
Louise Daugherty Publications for gene CNTNAP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNPY3
Louise Daugherty Publications for gene CNPY3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNOT3
Louise Daugherty Publications for gene CNOT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNOT1
Louise Daugherty Publications for gene CNOT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNNM2
Louise Daugherty Publications for gene CNNM2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNKSR2
Louise Daugherty Publications for gene CNKSR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNGB3
Louise Daugherty Publications for gene CNGB3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CNBP
Louise Daugherty Publications for gene CNBP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLTC
Louise Daugherty Publications for gene CLTC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLRN1
Louise Daugherty Publications for gene CLRN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLPP
Louise Daugherty Publications for gene CLPP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLPB
Louise Daugherty Publications for gene CLPB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLP1
Louise Daugherty Publications for gene CLP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLN8
Louise Daugherty Publications for gene CLN8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLN6
Louise Daugherty Publications for gene CLN6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLN5
Louise Daugherty Publications for gene CLN5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLN3
Louise Daugherty Publications for gene CLN3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLDN19
Louise Daugherty Publications for gene CLDN19 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLDN16
Louise Daugherty Publications for gene CLDN16 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLDN14
Louise Daugherty Publications for gene CLDN14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLDN1
Louise Daugherty Publications for gene CLDN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLCN7
Louise Daugherty Publications for gene CLCN7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLCN5
Louise Daugherty Publications for gene CLCN5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLCN4
Louise Daugherty Publications for gene CLCN4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CLCN2
Louise Daugherty Publications for gene CLCN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CKAP2L
Louise Daugherty Publications for gene CKAP2L were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CIT
Louise Daugherty Publications for gene CIT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CISD2
Louise Daugherty Publications for gene CISD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ICK
Louise Daugherty Publications for gene ICK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CIITA
Louise Daugherty Publications for gene CIITA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CIC
Louise Daugherty Publications for gene CIC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CIB2
Louise Daugherty Publications for gene CIB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHUK
Louise Daugherty Publications for gene CHUK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHSY1
Louise Daugherty Publications for gene CHSY1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHST6
Louise Daugherty Publications for gene CHST6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHST3
Louise Daugherty Publications for gene CHST3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHST14
Louise Daugherty Publications for gene CHST14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNG
Louise Daugherty Publications for gene CHRNG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNE
Louise Daugherty Publications for gene CHRNE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRND
Louise Daugherty Publications for gene CHRND were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNB2
Louise Daugherty Publications for gene CHRNB2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNB1
Louise Daugherty Publications for gene CHRNB1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNA4
Louise Daugherty Publications for gene CHRNA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNA2
Louise Daugherty Publications for gene CHRNA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRNA1
Louise Daugherty Publications for gene CHRNA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHRDL1
Louise Daugherty Publications for gene CHRDL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHMP2B
Louise Daugherty Publications for gene CHMP2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHMP1A
Louise Daugherty Publications for gene CHMP1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHM
Louise Daugherty Publications for gene CHM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHKB
Louise Daugherty Publications for gene CHKB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHD8
Louise Daugherty Publications for gene CHD8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHD7
Louise Daugherty Publications for gene CHD7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHD4
Louise Daugherty Publications for gene CHD4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHD3
Louise Daugherty Publications for gene CHD3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHD2
Louise Daugherty Publications for gene CHD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHCHD10
Louise Daugherty Publications for gene CHCHD10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHAT
Louise Daugherty Publications for gene CHAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CHAMP1
Louise Daugherty Publications for gene CHAMP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFTR
Louise Daugherty Publications for gene CFTR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFP
Louise Daugherty Publications for gene CFP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFL2
Louise Daugherty Publications for gene CFL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFI
Louise Daugherty Publications for gene CFI were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFHR5
Louise Daugherty Publications for gene CFHR5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFH
Louise Daugherty Publications for gene CFH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFD
Louise Daugherty Publications for gene CFD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CFC1
Louise Daugherty Publications for gene CFC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C21orf2
Louise Daugherty Publications for gene C21orf2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C11orf70
Louise Daugherty Publications for gene C11orf70 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
COL4A3BP
Louise Daugherty Publications for gene COL4A3BP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP83
Louise Daugherty Publications for gene CEP83 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP63
Louise Daugherty Publications for gene CEP63 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP57
Louise Daugherty Publications for gene CEP57 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP41
Louise Daugherty Publications for gene CEP41 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP290
Louise Daugherty Publications for gene CEP290 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP164
Louise Daugherty Publications for gene CEP164 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP152
Louise Daugherty Publications for gene CEP152 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP135
Louise Daugherty Publications for gene CEP135 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP120
Louise Daugherty Publications for gene CEP120 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEP104
Louise Daugherty Publications for gene CEP104 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CENPJ
Louise Daugherty Publications for gene CENPJ were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CENPF
Louise Daugherty Publications for gene CENPF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CEBPE
Louise Daugherty Publications for gene CEBPE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDX1
Louise Daugherty Publications for gene CDX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDT1
Louise Daugherty Publications for gene CDT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDSN
Louise Daugherty Publications for gene CDSN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDON
Louise Daugherty Publications for gene CDON were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDKN1C
Louise Daugherty Publications for gene CDKN1C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDKL5
Louise Daugherty Publications for gene CDKL5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDK8
Louise Daugherty Publications for gene CDK8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDK5RAP2
Louise Daugherty Publications for gene CDK5RAP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDK13
Louise Daugherty Publications for gene CDK13 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDK10
Louise Daugherty Publications for gene CDK10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDH3
Louise Daugherty Publications for gene CDH3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDH23
Louise Daugherty Publications for gene CDH23 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDH15
Louise Daugherty Publications for gene CDH15 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDH11
Louise Daugherty Publications for gene CDH11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDH1
Louise Daugherty Publications for gene CDH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDCA7
Louise Daugherty Publications for gene CDCA7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDC45
Louise Daugherty Publications for gene CDC45 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDC42
Louise Daugherty Publications for gene CDC42 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CDAN1
Louise Daugherty Publications for gene CDAN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD8A
Louise Daugherty Publications for gene CD8A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD81
Louise Daugherty Publications for gene CD81 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD79B
Louise Daugherty Publications for gene CD79B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD79A
Louise Daugherty Publications for gene CD79A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD70
Louise Daugherty Publications for gene CD70 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD59
Louise Daugherty Publications for gene CD59 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD55
Louise Daugherty Publications for gene CD55 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD40LG
Louise Daugherty Publications for gene CD40LG were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD40
Louise Daugherty Publications for gene CD40 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD3G
Louise Daugherty Publications for gene CD3G were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD3E
Louise Daugherty Publications for gene CD3E were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD3D
Louise Daugherty Publications for gene CD3D were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD27
Louise Daugherty Publications for gene CD27 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD247
Louise Daugherty Publications for gene CD247 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CD19
Louise Daugherty Publications for gene CD19 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCT5
Louise Daugherty Publications for gene CCT5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
FAM58A
Louise Daugherty Publications for gene FAM58A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCNO
Louise Daugherty Publications for gene CCNO were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCND2
Louise Daugherty Publications for gene CCND2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
WISP3
Louise Daugherty Publications for gene WISP3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC88C
Louise Daugherty Publications for gene CCDC88C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC8
Louise Daugherty Publications for gene CCDC8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC65
Louise Daugherty Publications for gene CCDC65 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC47
Louise Daugherty Publications for gene CCDC47 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC40
Louise Daugherty Publications for gene CCDC40 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC39
Louise Daugherty Publications for gene CCDC39 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC22
Louise Daugherty Publications for gene CCDC22 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC115
Louise Daugherty Publications for gene CCDC115 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC114
Louise Daugherty Publications for gene CCDC114 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCDC103
Louise Daugherty Publications for gene CCDC103 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CCBE1
Louise Daugherty Publications for gene CCBE1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CC2D2A
Louise Daugherty Publications for gene CC2D2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CC2D1A
Louise Daugherty Publications for gene CC2D1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CBS
Louise Daugherty Publications for gene CBS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
GIF
Louise Daugherty Publications for gene GIF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CBL
Louise Daugherty Publications for gene CBL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAVIN1
Louise Daugherty Publications for gene CAVIN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAV3
Louise Daugherty Publications for gene CAV3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAT
Louise Daugherty Publications for gene CAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CASR
Louise Daugherty Publications for gene CASR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CASQ2
Louise Daugherty Publications for gene CASQ2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CASQ1
Louise Daugherty Publications for gene CASQ1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CASP10
Louise Daugherty Publications for gene CASP10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CASK
Louise Daugherty Publications for gene CASK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CARS2
Louise Daugherty Publications for gene CARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CARS
Louise Daugherty Publications for gene CARS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CARMIL2
Louise Daugherty Publications for gene CARMIL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CARD9
Louise Daugherty Publications for gene CARD9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CARD14
Louise Daugherty Publications for gene CARD14 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CARD11
Louise Daugherty Publications for gene CARD11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAPN3
Louise Daugherty Publications for gene CAPN3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAPN1
Louise Daugherty Publications for gene CAPN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CANT1
Louise Daugherty Publications for gene CANT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAMTA1
Louise Daugherty Publications for gene CAMTA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAMK2B
Louise Daugherty Publications for gene CAMK2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAMK2A
Louise Daugherty Publications for gene CAMK2A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CAD
Louise Daugherty Publications for gene CAD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNB4
Louise Daugherty Publications for gene CACNB4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1S
Louise Daugherty Publications for gene CACNA1S were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1G
Louise Daugherty Publications for gene CACNA1G were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1F
Louise Daugherty Publications for gene CACNA1F were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1E
Louise Daugherty Publications for gene CACNA1E were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1D
Louise Daugherty Publications for gene CACNA1D were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1C
Louise Daugherty Publications for gene CACNA1C were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1B
Louise Daugherty Publications for gene CACNA1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CACNA1A
Louise Daugherty Publications for gene CACNA1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CA8
Louise Daugherty Publications for gene CA8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CA5A
Louise Daugherty Publications for gene CA5A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
CA2
Louise Daugherty Publications for gene CA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C9orf72
Louise Daugherty Publications for gene C9orf72 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C9
Louise Daugherty Publications for gene C9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C8orf37
Louise Daugherty Publications for gene C8orf37 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C8G
Louise Daugherty Publications for gene C8G were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C8B
Louise Daugherty Publications for gene C8B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C8A
Louise Daugherty Publications for gene C8A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C7
Louise Daugherty Publications for gene C7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C6
Louise Daugherty Publications for gene C6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C5
Louise Daugherty Publications for gene C5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C4B
Louise Daugherty Publications for gene C4B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C4A
Louise Daugherty Publications for gene C4A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C3
Louise Daugherty Publications for gene C3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C2CD3
Louise Daugherty Publications for gene C2CD3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C2
Louise Daugherty Publications for gene C2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C1S
Louise Daugherty Publications for gene C1S were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C1R
Louise Daugherty Publications for gene C1R were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C1QC
Louise Daugherty Publications for gene C1QC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C1QBP
Louise Daugherty Publications for gene C1QBP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C1QB
Louise Daugherty Publications for gene C1QB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C1QA
Louise Daugherty Publications for gene C1QA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C19orf12
Louise Daugherty Publications for gene C19orf12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C15orf41
Louise Daugherty Publications for gene C15orf41 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C12orf65
Louise Daugherty Publications for gene C12orf65 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C12orf57
Louise Daugherty Publications for gene C12orf57 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
C12orf4
Louise Daugherty Publications for gene C12orf4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BUB1B
Louise Daugherty Publications for gene BUB1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BTK
Louise Daugherty Publications for gene BTK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BTD
Louise Daugherty Publications for gene BTD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BSND
Louise Daugherty Publications for gene BSND were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BSCL2
Louise Daugherty Publications for gene BSCL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRWD3
Louise Daugherty Publications for gene BRWD3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRSK2
Louise Daugherty Publications for gene BRSK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRPF1
Louise Daugherty Publications for gene BRPF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRIP1
Louise Daugherty Publications for gene BRIP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRF1
Louise Daugherty Publications for gene BRF1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRD4
Louise Daugherty Publications for gene BRD4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRCA2
Louise Daugherty Publications for gene BRCA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRCA1
Louise Daugherty Publications for gene BRCA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRAT1
Louise Daugherty Publications for gene BRAT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BRAF
Louise Daugherty Publications for gene BRAF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BPTF
Louise Daugherty Publications for gene BPTF were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BOLA3
Louise Daugherty Publications for gene BOLA3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BNC2
Louise Daugherty Publications for gene BNC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BMPR1B
Louise Daugherty Publications for gene BMPR1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BMPR1A
Louise Daugherty Publications for gene BMPR1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BMPER
Louise Daugherty Publications for gene BMPER were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BMP4
Louise Daugherty Publications for gene BMP4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BMP2
Louise Daugherty Publications for gene BMP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BMP1
Louise Daugherty Publications for gene BMP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BLOC1S6
Louise Daugherty Publications for gene BLOC1S6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BLOC1S3
Louise Daugherty Publications for gene BLOC1S3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BLM
Louise Daugherty Publications for gene BLM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BIN1
Louise Daugherty Publications for gene BIN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BICD2
Louise Daugherty Publications for gene BICD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BHLHA9
Louise Daugherty Publications for gene BHLHA9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BGN
Louise Daugherty Publications for gene BGN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BFSP2
Louise Daugherty Publications for gene BFSP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BEAN1
Louise Daugherty Publications for gene BEAN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCS1L
Louise Daugherty Publications for gene BCS1L were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCOR
Louise Daugherty Publications for gene BCOR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCL11B
Louise Daugherty Publications for gene BCL11B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCL11A
Louise Daugherty Publications for gene BCL11A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCKDK
Louise Daugherty Publications for gene BCKDK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCKDHB
Louise Daugherty Publications for gene BCKDHB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCKDHA
Louise Daugherty Publications for gene BCKDHA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BCAP31
Louise Daugherty Publications for gene BCAP31 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS9
Louise Daugherty Publications for gene BBS9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS7
Louise Daugherty Publications for gene BBS7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS5
Louise Daugherty Publications for gene BBS5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS4
Louise Daugherty Publications for gene BBS4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS2
Louise Daugherty Publications for gene BBS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS12
Louise Daugherty Publications for gene BBS12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS10
Louise Daugherty Publications for gene BBS10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BBS1
Louise Daugherty Publications for gene BBS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BAG3
Louise Daugherty Publications for gene BAG3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BACH2
Louise Daugherty Publications for gene BACH2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
BAAT
Louise Daugherty Publications for gene BAAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B9D2
Louise Daugherty Publications for gene B9D2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B4GAT1
Louise Daugherty Publications for gene B4GAT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B4GALT7
Louise Daugherty Publications for gene B4GALT7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B4GALT1
Louise Daugherty Publications for gene B4GALT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B4GALNT1
Louise Daugherty Publications for gene B4GALNT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B3GLCT
Louise Daugherty Publications for gene B3GLCT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B3GAT3
Louise Daugherty Publications for gene B3GAT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B3GALT6
Louise Daugherty Publications for gene B3GALT6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B3GALNT2
Louise Daugherty Publications for gene B3GALNT2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
B2M
Louise Daugherty Publications for gene B2M were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AVPR2
Louise Daugherty Publications for gene AVPR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AUTS2
Louise Daugherty Publications for gene AUTS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AUH
Louise Daugherty Publications for gene AUH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATXN7
Louise Daugherty Publications for gene ATXN7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATXN3
Louise Daugherty Publications for gene ATXN3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATXN2
Louise Daugherty Publications for gene ATXN2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATXN10
Louise Daugherty Publications for gene ATXN10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATXN1
Louise Daugherty Publications for gene ATXN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATRX
Louise Daugherty Publications for gene ATRX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATR
Louise Daugherty Publications for gene ATR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP8B1
Louise Daugherty Publications for gene ATP8B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP7B
Louise Daugherty Publications for gene ATP7B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP7A
Louise Daugherty Publications for gene ATP7A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP6V1B2
Louise Daugherty Publications for gene ATP6V1B2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP6V1B1
Louise Daugherty Publications for gene ATP6V1B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP6V1A
Louise Daugherty Publications for gene ATP6V1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP6V0A2
Louise Daugherty Publications for gene ATP6V0A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP6AP2
Louise Daugherty Publications for gene ATP6AP2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP6AP1
Louise Daugherty Publications for gene ATP6AP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP5D
Louise Daugherty Publications for gene ATP5D were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP2A1
Louise Daugherty Publications for gene ATP2A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP1A3
Louise Daugherty Publications for gene ATP1A3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP1A2
Louise Daugherty Publications for gene ATP1A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP1A1
Louise Daugherty Publications for gene ATP1A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATP13A2
Louise Daugherty Publications for gene ATP13A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATN1
Louise Daugherty Publications for gene ATN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATM
Louise Daugherty Publications for gene ATM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATL1
Louise Daugherty Publications for gene ATL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATIC
Louise Daugherty Publications for gene ATIC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATCAY
Louise Daugherty Publications for gene ATCAY were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATAD3A
Louise Daugherty Publications for gene ATAD3A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ATAD1
Louise Daugherty Publications for gene ATAD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASXL3
Louise Daugherty Publications for gene ASXL3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASXL2
Louise Daugherty Publications for gene ASXL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASXL1
Louise Daugherty Publications for gene ASXL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASS1
Louise Daugherty Publications for gene ASS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASPM
Louise Daugherty Publications for gene ASPM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASPA
Louise Daugherty Publications for gene ASPA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASNS
Louise Daugherty Publications for gene ASNS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASL
Louise Daugherty Publications for gene ASL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASH1L
Louise Daugherty Publications for gene ASH1L were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASCC1
Louise Daugherty Publications for gene ASCC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ASAH1
Louise Daugherty Publications for gene ASAH1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARX
Louise Daugherty Publications for gene ARX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARV1
Louise Daugherty Publications for gene ARV1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARSE
Louise Daugherty Publications for gene ARSE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARSB
Louise Daugherty Publications for gene ARSB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARSA
Louise Daugherty Publications for gene ARSA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARPC1B
Louise Daugherty Publications for gene ARPC1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARMC9
Louise Daugherty Publications for gene ARMC9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARMC4
Louise Daugherty Publications for gene ARMC4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARL6
Louise Daugherty Publications for gene ARL6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARL13B
Louise Daugherty Publications for gene ARL13B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARID2
Louise Daugherty Publications for gene ARID2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARID1B
Louise Daugherty Publications for gene ARID1B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARID1A
Louise Daugherty Publications for gene ARID1A were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARHGEF9
Louise Daugherty Publications for gene ARHGEF9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARHGDIA
Louise Daugherty Publications for gene ARHGDIA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARHGAP31
Louise Daugherty Publications for gene ARHGAP31 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARG1
Louise Daugherty Publications for gene ARG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARFGEF2
Louise Daugherty Publications for gene ARFGEF2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ARCN1
Louise Daugherty Publications for gene ARCN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AR
Louise Daugherty Publications for gene AR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APTX
Louise Daugherty Publications for gene APTX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APRT
Louise Daugherty Publications for gene APRT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOE
Louise Daugherty Publications for gene APOE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOC2
Louise Daugherty Publications for gene APOC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOB
Louise Daugherty Publications for gene APOB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOA5
Louise Daugherty Publications for gene APOA5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APOA1
Louise Daugherty Publications for gene APOA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
APC
Louise Daugherty Publications for gene APC were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP5Z1
Louise Daugherty Publications for gene AP5Z1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP4S1
Louise Daugherty Publications for gene AP4S1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP4M1
Louise Daugherty Publications for gene AP4M1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP4E1
Louise Daugherty Publications for gene AP4E1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP4B1
Louise Daugherty Publications for gene AP4B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP3D1
Louise Daugherty Publications for gene AP3D1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP3B2
Louise Daugherty Publications for gene AP3B2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP3B1
Louise Daugherty Publications for gene AP3B1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP2M1
Louise Daugherty Publications for gene AP2M1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP1S2
Louise Daugherty Publications for gene AP1S2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AP1S1
Louise Daugherty Publications for gene AP1S1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANTXR2
Louise Daugherty Publications for gene ANTXR2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANTXR1
Louise Daugherty Publications for gene ANTXR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANOS1
Louise Daugherty Publications for gene ANOS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANO6
Louise Daugherty Publications for gene ANO6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANO5
Louise Daugherty Publications for gene ANO5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANO3
Louise Daugherty Publications for gene ANO3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANO10
Louise Daugherty Publications for gene ANO10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANKS6
Louise Daugherty Publications for gene ANKS6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANKRD26
Louise Daugherty Publications for gene ANKRD26 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANKRD11
Louise Daugherty Publications for gene ANKRD11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANKH
Louise Daugherty Publications for gene ANKH were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ANK1
Louise Daugherty Publications for gene ANK1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMT
Louise Daugherty Publications for gene AMT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMPD2
Louise Daugherty Publications for gene AMPD2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMN
Louise Daugherty Publications for gene AMN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMMECR1
Louise Daugherty Publications for gene AMMECR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMER1
Louise Daugherty Publications for gene AMER1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMELX
Louise Daugherty Publications for gene AMELX were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AMACR
Louise Daugherty Publications for gene AMACR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALX4
Louise Daugherty Publications for gene ALX4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALX3
Louise Daugherty Publications for gene ALX3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALX1
Louise Daugherty Publications for gene ALX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALS2
Louise Daugherty Publications for gene ALS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALPL
Louise Daugherty Publications for gene ALPL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALOXE3
Louise Daugherty Publications for gene ALOXE3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALOX12B
Louise Daugherty Publications for gene ALOX12B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALMS1
Louise Daugherty Publications for gene ALMS1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALKBH8
Louise Daugherty Publications for gene ALKBH8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG9
Louise Daugherty Publications for gene ALG9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG8
Louise Daugherty Publications for gene ALG8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG6
Louise Daugherty Publications for gene ALG6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG3
Louise Daugherty Publications for gene ALG3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG13
Louise Daugherty Publications for gene ALG13 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG12
Louise Daugherty Publications for gene ALG12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG11
Louise Daugherty Publications for gene ALG11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALG1
Louise Daugherty Publications for gene ALG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDOB
Louise Daugherty Publications for gene ALDOB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDOA
Louise Daugherty Publications for gene ALDOA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH7A1
Louise Daugherty Publications for gene ALDH7A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH6A1
Louise Daugherty Publications for gene ALDH6A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH5A1
Louise Daugherty Publications for gene ALDH5A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH4A1
Louise Daugherty Publications for gene ALDH4A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH3A2
Louise Daugherty Publications for gene ALDH3A2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH1A3
Louise Daugherty Publications for gene ALDH1A3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALDH18A1
Louise Daugherty Publications for gene ALDH18A1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALB
Louise Daugherty Publications for gene ALB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALAS2
Louise Daugherty Publications for gene ALAS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ALAD
Louise Daugherty Publications for gene ALAD were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AKT3
Louise Daugherty Publications for gene AKT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AKT1
Louise Daugherty Publications for gene AKT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AKR1D1
Louise Daugherty Publications for gene AKR1D1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AK2
Louise Daugherty Publications for gene AK2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AK1
Louise Daugherty Publications for gene AK1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AIRE
Louise Daugherty Publications for gene AIRE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AIPL1
Louise Daugherty Publications for gene AIPL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AIMP1
Louise Daugherty Publications for gene AIMP1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AIFM1
Louise Daugherty Publications for gene AIFM1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AICDA
Louise Daugherty Publications for gene AICDA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AHI1
Louise Daugherty Publications for gene AHI1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AHDC1
Louise Daugherty Publications for gene AHDC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGXT
Louise Daugherty Publications for gene AGXT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGTR1
Louise Daugherty Publications for gene AGTR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGT
Louise Daugherty Publications for gene AGT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGRN
Louise Daugherty Publications for gene AGRN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGPS
Louise Daugherty Publications for gene AGPS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGL
Louise Daugherty Publications for gene AGL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGK
Louise Daugherty Publications for gene AGK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AGA
Louise Daugherty Publications for gene AGA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AFG3L2
Louise Daugherty Publications for gene AFG3L2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AFF4
Louise Daugherty Publications for gene AFF4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AFF2
Louise Daugherty Publications for gene AFF2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADSL
Louise Daugherty Publications for gene ADSL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADPRHL2
Louise Daugherty Publications for gene ADPRHL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADNP
Louise Daugherty Publications for gene ADNP were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADK
Louise Daugherty Publications for gene ADK were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADGRV1
Louise Daugherty Publications for gene ADGRV1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADGRG6
Louise Daugherty Publications for gene ADGRG6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADGRG1
Louise Daugherty Publications for gene ADGRG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADD3
Louise Daugherty Publications for gene ADD3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADCY5
Louise Daugherty Publications for gene ADCY5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAT3
Louise Daugherty Publications for gene ADAT3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAR
Louise Daugherty Publications for gene ADAR were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAMTSL2
Louise Daugherty Publications for gene ADAMTSL2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAMTS17
Louise Daugherty Publications for gene ADAMTS17 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAMTS13
Louise Daugherty Publications for gene ADAMTS13 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADAMTS10
Louise Daugherty Publications for gene ADAMTS10 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADA2
Louise Daugherty Publications for gene ADA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ADA
Louise Daugherty Publications for gene ADA were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACY1
Louise Daugherty Publications for gene ACY1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACVRL1
Louise Daugherty Publications for gene ACVRL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACVR2B
Louise Daugherty Publications for gene ACVR2B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACVR1
Louise Daugherty Publications for gene ACVR1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTN4
Louise Daugherty Publications for gene ACTN4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTN1
Louise Daugherty Publications for gene ACTN1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTL6B
Louise Daugherty Publications for gene ACTL6B were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTG2
Louise Daugherty Publications for gene ACTG2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTG1
Louise Daugherty Publications for gene ACTG1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTC1
Louise Daugherty Publications for gene ACTC1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTB
Louise Daugherty Publications for gene ACTB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTA2
Louise Daugherty Publications for gene ACTA2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACTA1
Louise Daugherty Publications for gene ACTA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACSL4
Louise Daugherty Publications for gene ACSL4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACSF3
Louise Daugherty Publications for gene ACSF3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACP5
Louise Daugherty Publications for gene ACP5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACOX1
Louise Daugherty Publications for gene ACOX1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACO2
Louise Daugherty Publications for gene ACO2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACE
Louise Daugherty Publications for gene ACE were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACAT1
Louise Daugherty Publications for gene ACAT1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACAN
Louise Daugherty Publications for gene ACAN were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACADVL
Louise Daugherty Publications for gene ACADVL were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACADSB
Louise Daugherty Publications for gene ACADSB were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACADS
Louise Daugherty Publications for gene ACADS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACADM
Louise Daugherty Publications for gene ACADM were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACAD9
Louise Daugherty Publications for gene ACAD9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ACAD8
Louise Daugherty Publications for gene ACAD8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABL1
Louise Daugherty Publications for gene ABL1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABHD5
Louise Daugherty Publications for gene ABHD5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABHD12
Louise Daugherty Publications for gene ABHD12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCG8
Louise Daugherty Publications for gene ABCG8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCG5
Louise Daugherty Publications for gene ABCG5 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCD4
Louise Daugherty Publications for gene ABCD4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCD1
Louise Daugherty Publications for gene ABCD1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCC9
Louise Daugherty Publications for gene ABCC9 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCC8
Louise Daugherty Publications for gene ABCC8 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCC6
Louise Daugherty Publications for gene ABCC6 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCC2
Louise Daugherty Publications for gene ABCC2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCB7
Louise Daugherty Publications for gene ABCB7 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCB4
Louise Daugherty Publications for gene ABCB4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCB11
Louise Daugherty Publications for gene ABCB11 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCA4
Louise Daugherty Publications for gene ABCA4 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCA3
Louise Daugherty Publications for gene ABCA3 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCA12
Louise Daugherty Publications for gene ABCA12 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABCA1
Louise Daugherty Publications for gene ABCA1 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
ABAT
Louise Daugherty Publications for gene ABAT were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AASS
Louise Daugherty Publications for gene AASS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AARS2
Louise Daugherty Publications for gene AARS2 were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AARS
Louise Daugherty Publications for gene AARS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
AAAS
Louise Daugherty Publications for gene AAAS were updated from to 30847515
20 Feb 2020
Severe Paediatric Disorders v0.11
RRM2B
Louise Daugherty Mode of inheritance for gene RRM2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RPSA
Louise Daugherty Mode of inheritance for gene RPSA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS7
Louise Daugherty Mode of inheritance for gene RPS7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS6KA3
Louise Daugherty Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS26
Louise Daugherty Mode of inheritance for gene RPS26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS24
Louise Daugherty Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS19
Louise Daugherty Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS17
Louise Daugherty Mode of inheritance for gene RPS17 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPS10
Louise Daugherty Mode of inheritance for gene RPS10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPL5
Louise Daugherty Mode of inheritance for gene RPL5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPL35A
Louise Daugherty Mode of inheritance for gene RPL35A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPL11
Louise Daugherty Mode of inheritance for gene RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RPL10
Louise Daugherty Mode of inheritance for gene RPL10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
RPIA
Louise Daugherty Mode of inheritance for gene RPIA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RPGRIP1L
Louise Daugherty Mode of inheritance for gene RPGRIP1L was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RPGRIP1
Louise Daugherty Mode of inheritance for gene RPGRIP1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RPGR
Louise Daugherty Mode of inheritance for gene RPGR was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
RPE65
Louise Daugherty Mode of inheritance for gene RPE65 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RORC
Louise Daugherty Mode of inheritance for gene RORC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RORB
Louise Daugherty Mode of inheritance for gene RORB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RORA
Louise Daugherty Mode of inheritance for gene RORA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
ROR2
Louise Daugherty Mode of inheritance for gene ROR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ROGDI
Louise Daugherty Mode of inheritance for gene ROGDI was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ROBO3
Louise Daugherty Mode of inheritance for gene ROBO3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ROBO1
Louise Daugherty Mode of inheritance for gene ROBO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RNU4ATAC
Louise Daugherty Mode of inheritance for gene RNU4ATAC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNF216
Louise Daugherty Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNF170
Louise Daugherty Mode of inheritance for gene RNF170 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RNF168
Louise Daugherty Mode of inheritance for gene RNF168 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNF125
Louise Daugherty Mode of inheritance for gene RNF125 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RNASET2
Louise Daugherty Mode of inheritance for gene RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNASEH2C
Louise Daugherty Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNASEH2B
Louise Daugherty Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNASEH2A
Louise Daugherty Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RNASEH1
Louise Daugherty Mode of inheritance for gene RNASEH1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RMRP
Louise Daugherty Mode of inheritance for gene RMRP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RMND1
Louise Daugherty Mode of inheritance for gene RMND1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RLIM
Louise Daugherty Mode of inheritance for gene RLIM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
RIT1
Louise Daugherty Mode of inheritance for gene RIT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RIPK4
Louise Daugherty Mode of inheritance for gene RIPK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RIPK1
Louise Daugherty Mode of inheritance for gene RIPK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RHOBTB2
Louise Daugherty Mode of inheritance for gene RHOBTB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RHAG
Louise Daugherty Mode of inheritance for gene RHAG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RFXAP
Louise Daugherty Mode of inheritance for gene RFXAP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RFXANK
Louise Daugherty Mode of inheritance for gene RFXANK was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RFX6
Louise Daugherty Mode of inheritance for gene RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RFX5
Louise Daugherty Mode of inheritance for gene RFX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RFT1
Louise Daugherty Mode of inheritance for gene RFT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RETREG1
Louise Daugherty Mode of inheritance for gene RETREG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RET
Louise Daugherty Mode of inheritance for gene RET was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RERE
Louise Daugherty Mode of inheritance for gene RERE was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
REN
Louise Daugherty Mode of inheritance for gene REN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RELN
Louise Daugherty Mode of inheritance for gene RELN was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
REEP1
Louise Daugherty Mode of inheritance for gene REEP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RECQL4
Louise Daugherty Mode of inheritance for gene RECQL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RBPJ
Louise Daugherty Mode of inheritance for gene RBPJ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RBM8A
Louise Daugherty Mode of inheritance for gene RBM8A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RBM10
Louise Daugherty Mode of inheritance for gene RBM10 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
RBCK1
Louise Daugherty Mode of inheritance for gene RBCK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RBBP8
Louise Daugherty Mode of inheritance for gene RBBP8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAX
Louise Daugherty Mode of inheritance for gene RAX was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RASGRP2
Louise Daugherty Mode of inheritance for gene RASGRP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RASGRP1
Louise Daugherty Mode of inheritance for gene RASGRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RASA1
Louise Daugherty Mode of inheritance for gene RASA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RARS2
Louise Daugherty Mode of inheritance for gene RARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RARS
Louise Daugherty Mode of inheritance for gene RARS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RARB
Louise Daugherty Mode of inheritance for gene RARB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAPSN
Louise Daugherty Mode of inheritance for gene RAPSN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RALA
Louise Daugherty Mode of inheritance for gene RALA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RAI1
Louise Daugherty Mode of inheritance for gene RAI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RAG2
Louise Daugherty Mode of inheritance for gene RAG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAG1
Louise Daugherty Mode of inheritance for gene RAG1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAF1
Louise Daugherty Mode of inheritance for gene RAF1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAD21
Louise Daugherty Mode of inheritance for gene RAD21 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAC3
Louise Daugherty Mode of inheritance for gene RAC3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RAC2
Louise Daugherty Mode of inheritance for gene RAC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RAC1
Louise Daugherty Mode of inheritance for gene RAC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB7A
Louise Daugherty Mode of inheritance for gene RAB7A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB3GAP2
Louise Daugherty Mode of inheritance for gene RAB3GAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB3GAP1
Louise Daugherty Mode of inheritance for gene RAB3GAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB39B
Louise Daugherty Mode of inheritance for gene RAB39B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB33B
Louise Daugherty Mode of inheritance for gene RAB33B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB27A
Louise Daugherty Mode of inheritance for gene RAB27A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB23
Louise Daugherty Mode of inheritance for gene RAB23 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB18
Louise Daugherty Mode of inheritance for gene RAB18 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
RAB11B
Louise Daugherty Mode of inheritance for gene RAB11B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
QRSL1
Louise Daugherty Mode of inheritance for gene QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
QRICH1
Louise Daugherty Mode of inheritance for gene QRICH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
QDPR
Louise Daugherty Mode of inheritance for gene QDPR was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
QARS
Louise Daugherty Mode of inheritance for gene QARS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PYGM
Louise Daugherty Mode of inheritance for gene PYGM was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PYGL
Louise Daugherty Mode of inheritance for gene PYGL was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PYCR2
Louise Daugherty Mode of inheritance for gene PYCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PYCR1
Louise Daugherty Mode of inheritance for gene PYCR1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PUS7
Louise Daugherty Mode of inheritance for gene PUS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PUS3
Louise Daugherty Mode of inheritance for gene PUS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PUS1
Louise Daugherty Mode of inheritance for gene PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PURA
Louise Daugherty Mode of inheritance for gene PURA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PUM1
Louise Daugherty Mode of inheritance for gene PUM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PUF60
Louise Daugherty Mode of inheritance for gene PUF60 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PTS
Louise Daugherty Mode of inheritance for gene PTS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PTPRC
Louise Daugherty Mode of inheritance for gene PTPRC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PTPN23
Louise Daugherty Mode of inheritance for gene PTPN23 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PTPN11
Louise Daugherty Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PTHLH
Louise Daugherty Mode of inheritance for gene PTHLH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PTH1R
Louise Daugherty Mode of inheritance for gene PTH1R was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PTF1A
Louise Daugherty Mode of inheritance for gene PTF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PTEN
Louise Daugherty Mode of inheritance for gene PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PTDSS1
Louise Daugherty Mode of inheritance for gene PTDSS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PTCH1
Louise Daugherty Mode of inheritance for gene PTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PSTPIP1
Louise Daugherty Mode of inheritance for gene PSTPIP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PSPH
Louise Daugherty Mode of inheritance for gene PSPH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PSMD12
Louise Daugherty Mode of inheritance for gene PSMD12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PSMB8
Louise Daugherty Mode of inheritance for gene PSMB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PSEN1
Louise Daugherty Mode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PSAT1
Louise Daugherty Mode of inheritance for gene PSAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PSAP
Louise Daugherty Mode of inheritance for gene PSAP was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRX
Louise Daugherty Mode of inheritance for gene PRX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRUNE1
Louise Daugherty Mode of inheritance for gene PRUNE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRSS56
Louise Daugherty Mode of inheritance for gene PRSS56 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRSS12
Louise Daugherty Mode of inheritance for gene PRSS12 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRRT2
Louise Daugherty Mode of inheritance for gene PRRT2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRR12
Louise Daugherty Mode of inheritance for gene PRR12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRPS1
Louise Daugherty Mode of inheritance for gene PRPS1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PROS1
Louise Daugherty Mode of inheritance for gene PROS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PROP1
Louise Daugherty Mode of inheritance for gene PROP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PROKR2
Louise Daugherty Mode of inheritance for gene PROKR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRODH
Louise Daugherty Mode of inheritance for gene PRODH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PROC
Louise Daugherty Mode of inheritance for gene PROC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRNP
Louise Daugherty Mode of inheritance for gene PRNP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRMT7
Louise Daugherty Mode of inheritance for gene PRMT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKRA
Louise Daugherty Mode of inheritance for gene PRKRA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKN
Louise Daugherty Mode of inheritance for gene PRKN was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKDC
Louise Daugherty Mode of inheritance for gene PRKDC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKD1
Louise Daugherty Mode of inheritance for gene PRKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKCG
Louise Daugherty Mode of inheritance for gene PRKCG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKCD
Louise Daugherty Mode of inheritance for gene PRKCD was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKAR1A
Louise Daugherty Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRKAG2
Louise Daugherty Mode of inheritance for gene PRKAG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PRICKLE1
Louise Daugherty Mode of inheritance for gene PRICKLE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRG4
Louise Daugherty Mode of inheritance for gene PRG4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRF1
Louise Daugherty Mode of inheritance for gene PRF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PRDM12
Louise Daugherty Mode of inheritance for gene PRDM12 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PQBP1
Louise Daugherty Mode of inheritance for gene PQBP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PPT1
Louise Daugherty Mode of inheritance for gene PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP3CA
Louise Daugherty Mode of inheritance for gene PPP3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP2R5D
Louise Daugherty Mode of inheritance for gene PPP2R5D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP2R2B
Louise Daugherty Mode of inheritance for gene PPP2R2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP2R1A
Louise Daugherty Mode of inheritance for gene PPP2R1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP2CA
Louise Daugherty Mode of inheritance for gene PPP2CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP1R21
Louise Daugherty Mode of inheritance for gene PPP1R21 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP1R15B
Louise Daugherty Mode of inheritance for gene PPP1R15B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PPP1CB
Louise Daugherty Mode of inheritance for gene PPP1CB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPOX
Louise Daugherty Mode of inheritance for gene PPOX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPM1D
Louise Daugherty Mode of inheritance for gene PPM1D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PPIB
Louise Daugherty Mode of inheritance for gene PPIB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PPA2
Louise Daugherty Mode of inheritance for gene PPA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POU4F3
Louise Daugherty Mode of inheritance for gene POU4F3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
POU3F4
Louise Daugherty Mode of inheritance for gene POU3F4 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
POU3F3
Louise Daugherty Mode of inheritance for gene POU3F3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
POU1F1
Louise Daugherty Mode of inheritance for gene POU1F1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PORCN
Louise Daugherty Mode of inheritance for gene PORCN was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
POR
Louise Daugherty Mode of inheritance for gene POR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POP1
Louise Daugherty Mode of inheritance for gene POP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POMT2
Louise Daugherty Mode of inheritance for gene POMT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POMT1
Louise Daugherty Mode of inheritance for gene POMT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POMK
Louise Daugherty Mode of inheritance for gene POMK was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POMGNT2
Louise Daugherty Mode of inheritance for gene POMGNT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POMGNT1
Louise Daugherty Mode of inheritance for gene POMGNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR3B
Louise Daugherty Mode of inheritance for gene POLR3B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR3A
Louise Daugherty Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR2A
Louise Daugherty Mode of inheritance for gene POLR2A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR1D
Louise Daugherty Mode of inheritance for gene POLR1D was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR1C
Louise Daugherty Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLR1A
Louise Daugherty Mode of inheritance for gene POLR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
POLH
Louise Daugherty Mode of inheritance for gene POLH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLG2
Louise Daugherty Mode of inheritance for gene POLG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLG
Louise Daugherty Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLE
Louise Daugherty Mode of inheritance for gene POLE was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POLD1
Louise Daugherty Mode of inheritance for gene POLD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
POLA1
Louise Daugherty Mode of inheritance for gene POLA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
POGZ
Louise Daugherty Mode of inheritance for gene POGZ was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
POC1B
Louise Daugherty Mode of inheritance for gene POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
POC1A
Louise Daugherty Mode of inheritance for gene POC1A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PNPT1
Louise Daugherty Mode of inheritance for gene PNPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PNPO
Louise Daugherty Mode of inheritance for gene PNPO was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PNPLA6
Louise Daugherty Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PNP
Louise Daugherty Mode of inheritance for gene PNP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PNKP
Louise Daugherty Mode of inheritance for gene PNKP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PNKD
Louise Daugherty Mode of inheritance for gene PNKD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PMPCB
Louise Daugherty Mode of inheritance for gene PMPCB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PMPCA
Louise Daugherty Mode of inheritance for gene PMPCA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PMP22
Louise Daugherty Mode of inheritance for gene PMP22 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PMM2
Louise Daugherty Mode of inheritance for gene PMM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLS3
Louise Daugherty Mode of inheritance for gene PLS3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PLPBP
Louise Daugherty Mode of inheritance for gene PLPBP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLP1
Louise Daugherty Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PLOD2
Louise Daugherty Mode of inheritance for gene PLOD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLOD1
Louise Daugherty Mode of inheritance for gene PLOD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLK4
Louise Daugherty Mode of inheritance for gene PLK4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLG
Louise Daugherty Mode of inheritance for gene PLG was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLEC
Louise Daugherty Mode of inheritance for gene PLEC was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLCG2
Louise Daugherty Mode of inheritance for gene PLCG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PLCE1
Louise Daugherty Mode of inheritance for gene PLCE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLCB1
Louise Daugherty Mode of inheritance for gene PLCB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLAU
Louise Daugherty Mode of inheritance for gene PLAU was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PLAA
Louise Daugherty Mode of inheritance for gene PLAA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLA2G6
Louise Daugherty Mode of inheritance for gene PLA2G6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PLA2G4A
Louise Daugherty Mode of inheritance for gene PLA2G4A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PKLR
Louise Daugherty Mode of inheritance for gene PKLR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PKHD1
Louise Daugherty Mode of inheritance for gene PKHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PKD2
Louise Daugherty Mode of inheritance for gene PKD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PKD1L1
Louise Daugherty Mode of inheritance for gene PKD1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PKD1
Louise Daugherty Mode of inheritance for gene PKD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
DFNB59
Louise Daugherty Mode of inheritance for gene DFNB59 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PITX3
Louise Daugherty Mode of inheritance for gene PITX3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PITX2
Louise Daugherty Mode of inheritance for gene PITX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PITX1
Louise Daugherty Mode of inheritance for gene PITX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PITRM1
Louise Daugherty Mode of inheritance for gene PITRM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PINK1
Louise Daugherty Mode of inheritance for gene PINK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIK3R2
Louise Daugherty Mode of inheritance for gene PIK3R2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PIK3R1
Louise Daugherty Mode of inheritance for gene PIK3R1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIK3CD
Louise Daugherty Mode of inheritance for gene PIK3CD was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PIK3CA
Louise Daugherty Mode of inheritance for gene PIK3CA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGW
Louise Daugherty Mode of inheritance for gene PIGW was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGV
Louise Daugherty Mode of inheritance for gene PIGV was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGU
Louise Daugherty Mode of inheritance for gene PIGU was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGT
Louise Daugherty Mode of inheritance for gene PIGT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGQ
Louise Daugherty Mode of inheritance for gene PIGQ was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGO
Louise Daugherty Mode of inheritance for gene PIGO was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGN
Louise Daugherty Mode of inheritance for gene PIGN was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGL
Louise Daugherty Mode of inheritance for gene PIGL was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGH
Louise Daugherty Mode of inheritance for gene PIGH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGG
Louise Daugherty Mode of inheritance for gene PIGG was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGC
Louise Daugherty Mode of inheritance for gene PIGC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGB
Louise Daugherty Mode of inheritance for gene PIGB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIGA
Louise Daugherty Mode of inheritance for gene PIGA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PIEZO2
Louise Daugherty Mode of inheritance for gene PIEZO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PIEZO1
Louise Daugherty Mode of inheritance for gene PIEZO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHYH
Louise Daugherty Mode of inheritance for gene PHYH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHOX2B
Louise Daugherty Mode of inheritance for gene PHOX2B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHKG2
Louise Daugherty Mode of inheritance for gene PHKG2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHKB
Louise Daugherty Mode of inheritance for gene PHKB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHKA2
Louise Daugherty Mode of inheritance for gene PHKA2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PHKA1
Louise Daugherty Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PHIP
Louise Daugherty Mode of inheritance for gene PHIP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PHGDH
Louise Daugherty Mode of inheritance for gene PHGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PHF8
Louise Daugherty Mode of inheritance for gene PHF8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PHF6
Louise Daugherty Mode of inheritance for gene PHF6 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PHF21A
Louise Daugherty Mode of inheritance for gene PHF21A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PHEX
Louise Daugherty Mode of inheritance for gene PHEX was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PHACTR1
Louise Daugherty Mode of inheritance for gene PHACTR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PGM3
Louise Daugherty Mode of inheritance for gene PGM3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PGM1
Louise Daugherty Mode of inheritance for gene PGM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PGK1
Louise Daugherty Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PGAP3
Louise Daugherty Mode of inheritance for gene PGAP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PGAP2
Louise Daugherty Mode of inheritance for gene PGAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PGAP1
Louise Daugherty Mode of inheritance for gene PGAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PGAM2
Louise Daugherty Mode of inheritance for gene PGAM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PFKM
Louise Daugherty Mode of inheritance for gene PFKM was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX7
Louise Daugherty Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX6
Louise Daugherty Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX5
Louise Daugherty Mode of inheritance for gene PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX3
Louise Daugherty Mode of inheritance for gene PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX26
Louise Daugherty Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX2
Louise Daugherty Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX19
Louise Daugherty Mode of inheritance for gene PEX19 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX16
Louise Daugherty Mode of inheritance for gene PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX14
Louise Daugherty Mode of inheritance for gene PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX13
Louise Daugherty Mode of inheritance for gene PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX12
Louise Daugherty Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX10
Louise Daugherty Mode of inheritance for gene PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEX1
Louise Daugherty Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PET100
Louise Daugherty Mode of inheritance for gene PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PEPD
Louise Daugherty Mode of inheritance for gene PEPD was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDYN
Louise Daugherty Mode of inheritance for gene PDYN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PDSS2
Louise Daugherty Mode of inheritance for gene PDSS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDSS1
Louise Daugherty Mode of inheritance for gene PDSS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDP1
Louise Daugherty Mode of inheritance for gene PDP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDHX
Louise Daugherty Mode of inheritance for gene PDHX was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDHB
Louise Daugherty Mode of inheritance for gene PDHB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDHA1
Louise Daugherty Mode of inheritance for gene PDHA1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PDGFRB
Louise Daugherty Mode of inheritance for gene PDGFRB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PDGFB
Louise Daugherty Mode of inheritance for gene PDGFB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDE6G
Louise Daugherty Mode of inheritance for gene PDE6G was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDE4D
Louise Daugherty Mode of inheritance for gene PDE4D was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PDE3A
Louise Daugherty Mode of inheritance for gene PDE3A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PDE10A
Louise Daugherty Mode of inheritance for gene PDE10A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PDCD10
Louise Daugherty Mode of inheritance for gene PDCD10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PCYT1A
Louise Daugherty Mode of inheritance for gene PCYT1A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCSK9
Louise Daugherty Mode of inheritance for gene PCSK9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PCNT
Louise Daugherty Mode of inheritance for gene PCNT was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCGF2
Louise Daugherty Mode of inheritance for gene PCGF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PCDH19
Louise Daugherty Mode of inheritance for gene PCDH19 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
PCDH15
Louise Daugherty Mode of inheritance for gene PCDH15 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCDH12
Louise Daugherty Mode of inheritance for gene PCDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCCB
Louise Daugherty Mode of inheritance for gene PCCB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCCA
Louise Daugherty Mode of inheritance for gene PCCA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PCBD1
Louise Daugherty Mode of inheritance for gene PCBD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
C2orf71
Louise Daugherty Mode of inheritance for gene C2orf71 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PC
Louise Daugherty Mode of inheritance for gene PC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PBX1
Louise Daugherty Mode of inheritance for gene PBX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PAX9
Louise Daugherty Mode of inheritance for gene PAX9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PAX8
Louise Daugherty Mode of inheritance for gene PAX8 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PAX6
Louise Daugherty Mode of inheritance for gene PAX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PAX3
Louise Daugherty Mode of inheritance for gene PAX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PAX2
Louise Daugherty Mode of inheritance for gene PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PARS2
Louise Daugherty Mode of inheritance for gene PARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PARN
Louise Daugherty Mode of inheritance for gene PARN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PARK7
Louise Daugherty Mode of inheritance for gene PARK7 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PAPSS2
Louise Daugherty Mode of inheritance for gene PAPSS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PAPPA2
Louise Daugherty Mode of inheritance for gene PAPPA2 was changed from to MITOCHONDRIAL
20 Feb 2020
Severe Paediatric Disorders v0.11
PANK2
Louise Daugherty Mode of inheritance for gene PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PALB2
Louise Daugherty Mode of inheritance for gene PALB2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PAK3
Louise Daugherty Mode of inheritance for gene PAK3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
PAH
Louise Daugherty Mode of inheritance for gene PAH was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
PAFAH1B1
Louise Daugherty Mode of inheritance for gene PAFAH1B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PACS2
Louise Daugherty Mode of inheritance for gene PACS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
PACS1
Louise Daugherty Mode of inheritance for gene PACS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
P4HTM
Louise Daugherty Mode of inheritance for gene P4HTM was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
P3H1
Louise Daugherty Mode of inheritance for gene P3H1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
P2RY12
Louise Daugherty Mode of inheritance for gene P2RY12 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OXCT1
Louise Daugherty Mode of inheritance for gene OXCT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OTX2
Louise Daugherty Mode of inheritance for gene OTX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
OTULIN
Louise Daugherty Mode of inheritance for gene OTULIN was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OTUD6B
Louise Daugherty Mode of inheritance for gene OTUD6B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OTOGL
Louise Daugherty Mode of inheritance for gene OTOGL was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OTOF
Louise Daugherty Mode of inheritance for gene OTOF was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OTOA
Louise Daugherty Mode of inheritance for gene OTOA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OTC
Louise Daugherty Mode of inheritance for gene OTC was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
OSTM1
Louise Daugherty Mode of inheritance for gene OSTM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OSMR
Louise Daugherty Mode of inheritance for gene OSMR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
OSGEP
Louise Daugherty Mode of inheritance for gene OSGEP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ORC6
Louise Daugherty Mode of inheritance for gene ORC6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ORC4
Louise Daugherty Mode of inheritance for gene ORC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ORC1
Louise Daugherty Mode of inheritance for gene ORC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
ORAI1
Louise Daugherty Mode of inheritance for gene ORAI1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OPHN1
Louise Daugherty Mode of inheritance for gene OPHN1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
OPA3
Louise Daugherty Mode of inheritance for gene OPA3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OPA1
Louise Daugherty Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OGT
Louise Daugherty Mode of inheritance for gene OGT was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
OFD1
Louise Daugherty Mode of inheritance for gene OFD1 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
ODC1
Louise Daugherty Mode of inheritance for gene ODC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
C4orf26
Louise Daugherty Mode of inheritance for gene C4orf26 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OCRL
Louise Daugherty Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
OCLN
Louise Daugherty Mode of inheritance for gene OCLN was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OCA2
Louise Daugherty Mode of inheritance for gene OCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OBSL1
Louise Daugherty Mode of inheritance for gene OBSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
OAT
Louise Daugherty Mode of inheritance for gene OAT was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NYX
Louise Daugherty Mode of inheritance for gene NYX was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
NUS1
Louise Daugherty Mode of inheritance for gene NUS1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NUP93
Louise Daugherty Mode of inheritance for gene NUP93 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NUP107
Louise Daugherty Mode of inheritance for gene NUP107 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NUBPL
Louise Daugherty Mode of inheritance for gene NUBPL was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NTRK2
Louise Daugherty Mode of inheritance for gene NTRK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NTRK1
Louise Daugherty Mode of inheritance for gene NTRK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NT5C3A
Louise Daugherty Mode of inheritance for gene NT5C3A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NT5C2
Louise Daugherty Mode of inheritance for gene NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NSUN2
Louise Daugherty Mode of inheritance for gene NSUN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NSMCE3
Louise Daugherty Mode of inheritance for gene NSMCE3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NSDHL
Louise Daugherty Mode of inheritance for gene NSDHL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NSD2
Louise Daugherty Mode of inheritance for gene NSD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NSD1
Louise Daugherty Mode of inheritance for gene NSD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NRXN1
Louise Daugherty Mode of inheritance for gene NRXN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NRAS
Louise Daugherty Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NR5A1
Louise Daugherty Mode of inheritance for gene NR5A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NR2F2
Louise Daugherty Mode of inheritance for gene NR2F2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NR2F1
Louise Daugherty Mode of inheritance for gene NR2F1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NR1H4
Louise Daugherty Mode of inheritance for gene NR1H4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NR0B1
Louise Daugherty Mode of inheritance for gene NR0B1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
NPRL3
Louise Daugherty Mode of inheritance for gene NPRL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NPR2
Louise Daugherty Mode of inheritance for gene NPR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPHS2
Louise Daugherty Mode of inheritance for gene NPHS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPHS1
Louise Daugherty Mode of inheritance for gene NPHS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPHP4
Louise Daugherty Mode of inheritance for gene NPHP4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPHP3
Louise Daugherty Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPHP1
Louise Daugherty Mode of inheritance for gene NPHP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPC2
Louise Daugherty Mode of inheritance for gene NPC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NPC1
Louise Daugherty Mode of inheritance for gene NPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NOTCH3
Louise Daugherty Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NOTCH2
Louise Daugherty Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NOTCH1
Louise Daugherty Mode of inheritance for gene NOTCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NOP56
Louise Daugherty Mode of inheritance for gene NOP56 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NOP10
Louise Daugherty Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NONO
Louise Daugherty Mode of inheritance for gene NONO was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NOG
Louise Daugherty Mode of inheritance for gene NOG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NODAL
Louise Daugherty Mode of inheritance for gene NODAL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NOD2
Louise Daugherty Mode of inheritance for gene NOD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NMNAT1
Louise Daugherty Mode of inheritance for gene NMNAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NLRP3
Louise Daugherty Mode of inheritance for gene NLRP3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NLRP12
Louise Daugherty Mode of inheritance for gene NLRP12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NLRC4
Louise Daugherty Mode of inheritance for gene NLRC4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NLGN3
Louise Daugherty Mode of inheritance for gene NLGN3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NKX6-2
Louise Daugherty Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NKX3-2
Louise Daugherty Mode of inheritance for gene NKX3-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NKX2-5
Louise Daugherty Mode of inheritance for gene NKX2-5 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NKX2-1
Louise Daugherty Mode of inheritance for gene NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NIPBL
Louise Daugherty Mode of inheritance for gene NIPBL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NIPAL4
Louise Daugherty Mode of inheritance for gene NIPAL4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NIPA1
Louise Daugherty Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NHS
Louise Daugherty Mode of inheritance for gene NHS was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NHP2
Louise Daugherty Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NHLRC1
Louise Daugherty Mode of inheritance for gene NHLRC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NHEJ1
Louise Daugherty Mode of inheritance for gene NHEJ1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NGLY1
Louise Daugherty Mode of inheritance for gene NGLY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NFU1
Louise Daugherty Mode of inheritance for gene NFU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NFKBIA
Louise Daugherty Mode of inheritance for gene NFKBIA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NFKB2
Louise Daugherty Mode of inheritance for gene NFKB2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NFKB1
Louise Daugherty Mode of inheritance for gene NFKB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NFIX
Louise Daugherty Mode of inheritance for gene NFIX was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NFIA
Louise Daugherty Mode of inheritance for gene NFIA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NFE2L2
Louise Daugherty Mode of inheritance for gene NFE2L2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NFASC
Louise Daugherty Mode of inheritance for gene NFASC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NF2
Louise Daugherty Mode of inheritance for gene NF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NF1
Louise Daugherty Mode of inheritance for gene NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NEXMIF
Louise Daugherty Mode of inheritance for gene NEXMIF was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NEU1
Louise Daugherty Mode of inheritance for gene NEU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NEK8
Louise Daugherty Mode of inheritance for gene NEK8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NEK1
Louise Daugherty Mode of inheritance for gene NEK1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NEFL
Louise Daugherty Mode of inheritance for gene NEFL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NEFH
Louise Daugherty Mode of inheritance for gene NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NEDD4L
Louise Daugherty Mode of inheritance for gene NEDD4L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NECTIN4
Louise Daugherty Mode of inheritance for gene NECTIN4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NECTIN1
Louise Daugherty Mode of inheritance for gene NECTIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NEB
Louise Daugherty Mode of inheritance for gene NEB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFV2
Louise Daugherty Mode of inheritance for gene NDUFV2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFV1
Louise Daugherty Mode of inheritance for gene NDUFV1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS8
Louise Daugherty Mode of inheritance for gene NDUFS8 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS7
Louise Daugherty Mode of inheritance for gene NDUFS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS6
Louise Daugherty Mode of inheritance for gene NDUFS6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS4
Louise Daugherty Mode of inheritance for gene NDUFS4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS3
Louise Daugherty Mode of inheritance for gene NDUFS3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS2
Louise Daugherty Mode of inheritance for gene NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFS1
Louise Daugherty Mode of inheritance for gene NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFB8
Louise Daugherty Mode of inheritance for gene NDUFB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFB3
Louise Daugherty Mode of inheritance for gene NDUFB3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFB11
Louise Daugherty Mode of inheritance for gene NDUFB11 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF8
Louise Daugherty Mode of inheritance for gene NDUFAF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF6
Louise Daugherty Mode of inheritance for gene NDUFAF6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF5
Louise Daugherty Mode of inheritance for gene NDUFAF5 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF4
Louise Daugherty Mode of inheritance for gene NDUFAF4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF3
Louise Daugherty Mode of inheritance for gene NDUFAF3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF2
Louise Daugherty Mode of inheritance for gene NDUFAF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFAF1
Louise Daugherty Mode of inheritance for gene NDUFAF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA9
Louise Daugherty Mode of inheritance for gene NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA6
Louise Daugherty Mode of inheritance for gene NDUFA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA4
Louise Daugherty Mode of inheritance for gene NDUFA4 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA11
Louise Daugherty Mode of inheritance for gene NDUFA11 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA10
Louise Daugherty Mode of inheritance for gene NDUFA10 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDUFA1
Louise Daugherty Mode of inheritance for gene NDUFA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
NDST1
Louise Daugherty Mode of inheritance for gene NDST1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDRG1
Louise Daugherty Mode of inheritance for gene NDRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NDP
Louise Daugherty Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
NDE1
Louise Daugherty Mode of inheritance for gene NDE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NCF2
Louise Daugherty Mode of inheritance for gene NCF2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NCF1
Louise Daugherty Mode of inheritance for gene NCF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NBN
Louise Daugherty Mode of inheritance for gene NBN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NBEAL2
Louise Daugherty Mode of inheritance for gene NBEAL2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NBEA
Louise Daugherty Mode of inheritance for gene NBEA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NBAS
Louise Daugherty Mode of inheritance for gene NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NAXE
Louise Daugherty Mode of inheritance for gene NAXE was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NARS2
Louise Daugherty Mode of inheritance for gene NARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NANS
Louise Daugherty Mode of inheritance for gene NANS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NALCN
Louise Daugherty Mode of inheritance for gene NALCN was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NAGS
Louise Daugherty Mode of inheritance for gene NAGS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NAGLU
Louise Daugherty Mode of inheritance for gene NAGLU was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NAGA
Louise Daugherty Mode of inheritance for gene NAGA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
NACC1
Louise Daugherty Mode of inheritance for gene NACC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NAA15
Louise Daugherty Mode of inheritance for gene NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
NAA10
Louise Daugherty Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
MYT1L
Louise Daugherty Mode of inheritance for gene MYT1L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYT1
Louise Daugherty Mode of inheritance for gene MYT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYSM1
Louise Daugherty Mode of inheritance for gene MYSM1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYRF
Louise Daugherty Mode of inheritance for gene MYRF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYOT
Louise Daugherty Mode of inheritance for gene MYOT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO7A
Louise Daugherty Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO6
Louise Daugherty Mode of inheritance for gene MYO6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO5B
Louise Daugherty Mode of inheritance for gene MYO5B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO5A
Louise Daugherty Mode of inheritance for gene MYO5A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO3A
Louise Daugherty Mode of inheritance for gene MYO3A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO1E
Louise Daugherty Mode of inheritance for gene MYO1E was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO18B
Louise Daugherty Mode of inheritance for gene MYO18B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYO15A
Louise Daugherty Mode of inheritance for gene MYO15A was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYMK
Louise Daugherty Mode of inheritance for gene MYMK was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYL1
Louise Daugherty Mode of inheritance for gene MYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH9
Louise Daugherty Mode of inheritance for gene MYH9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH8
Louise Daugherty Mode of inheritance for gene MYH8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH7
Louise Daugherty Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH6
Louise Daugherty Mode of inheritance for gene MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH3
Louise Daugherty Mode of inheritance for gene MYH3 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH2
Louise Daugherty Mode of inheritance for gene MYH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH14
Louise Daugherty Mode of inheritance for gene MYH14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYH10
Louise Daugherty Mode of inheritance for gene MYH10 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYD88
Louise Daugherty Mode of inheritance for gene MYD88 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MYCN
Louise Daugherty Mode of inheritance for gene MYCN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MYBPC1
Louise Daugherty Mode of inheritance for gene MYBPC1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MVK
Louise Daugherty Mode of inheritance for gene MVK was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MUSK
Louise Daugherty Mode of inheritance for gene MUSK was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MUC1
Louise Daugherty Mode of inheritance for gene MUC1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MTTP
Louise Daugherty Mode of inheritance for gene MTTP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTRR
Louise Daugherty Mode of inheritance for gene MTRR was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTR
Louise Daugherty Mode of inheritance for gene MTR was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTOR
Louise Daugherty Mode of inheritance for gene MTOR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MTO1
Louise Daugherty Mode of inheritance for gene MTO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTMR2
Louise Daugherty Mode of inheritance for gene MTMR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTM1
Louise Daugherty Mode of inheritance for gene MTM1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
MTHFR
Louise Daugherty Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTHFD1
Louise Daugherty Mode of inheritance for gene MTHFD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MTFMT
Louise Daugherty Mode of inheritance for gene MTFMT was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSX2
Louise Daugherty Mode of inheritance for gene MSX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MSX1
Louise Daugherty Mode of inheritance for gene MSX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSTO1
Louise Daugherty Mode of inheritance for gene MSTO1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSN
Louise Daugherty Mode of inheritance for gene MSN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2020
Severe Paediatric Disorders v0.11
MSMO1
Louise Daugherty Mode of inheritance for gene MSMO1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MSL3
Louise Daugherty Mode of inheritance for gene MSL3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2020
Severe Paediatric Disorders v0.11
MSH6
Louise Daugherty Mode of inheritance for gene MSH6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MS4A1
Louise Daugherty Mode of inheritance for gene MS4A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MRPS34
Louise Daugherty Mode of inheritance for gene MRPS34 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MRPS22
Louise Daugherty Mode of inheritance for gene MRPS22 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MRPS2
Louise Daugherty Mode of inheritance for gene MRPS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MRPL3
Louise Daugherty Mode of inheritance for gene MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MRE11
Louise Daugherty Mode of inheritance for gene MRE11 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPZ
Louise Daugherty Mode of inheritance for gene MPZ was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPV17
Louise Daugherty Mode of inheritance for gene MPV17 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPO
Louise Daugherty Mode of inheritance for gene MPO was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPLKIP
Louise Daugherty Mode of inheritance for gene MPLKIP was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPL
Louise Daugherty Mode of inheritance for gene MPL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPIG6B
Louise Daugherty Mode of inheritance for gene MPIG6B was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPI
Louise Daugherty Mode of inheritance for gene MPI was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPDU1
Louise Daugherty Mode of inheritance for gene MPDU1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MPC1
Louise Daugherty Mode of inheritance for gene MPC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MORC2
Louise Daugherty Mode of inheritance for gene MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MOGS
Louise Daugherty Mode of inheritance for gene MOGS was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MOCS2
Louise Daugherty Mode of inheritance for gene MOCS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MOCS1
Louise Daugherty Mode of inheritance for gene MOCS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MNX1
Louise Daugherty Mode of inheritance for gene MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2020
Severe Paediatric Disorders v0.11
MUT
Louise Daugherty Mode of inheritance for gene MUT was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMP21
Louise Daugherty Mode of inheritance for gene MMP21 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMP2
Louise Daugherty Mode of inheritance for gene MMP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMP13
Louise Daugherty Mode of inheritance for gene MMP13 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMADHC
Louise Daugherty Mode of inheritance for gene MMADHC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMACHC
Louise Daugherty Mode of inheritance for gene MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMAB
Louise Daugherty Mode of inheritance for gene MMAB was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MMAA
Louise Daugherty Mode of inheritance for gene MMAA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MLYCD
Louise Daugherty Mode of inheritance for gene MLYCD was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MLC1
Louise Daugherty Mode of inheritance for gene MLC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.11
MKS1
Louise Daugherty Mode of inheritance for gene MKS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.10
MIPEP
Louise Daugherty Deleted their review
20 Feb 2020
Severe Paediatric Disorders v0.10
MIPEP
Louise Daugherty reviewed gene: MIPEP: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2020
Severe Paediatric Disorders v0.10
PMS2
Louise Daugherty Added phenotypes Intellectual disability, developmental delay for gene: PMS2
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS35
Louise Daugherty Added phenotypes ?Candidiasis, familial, 8, 615527 for gene: VPS35
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAF3IP2
Louise Daugherty Added phenotypes Immunodeficiency, common variable with lack of anti-pneumococcal antibody for gene: TRAF3IP2
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFSF12
Louise Daugherty Added phenotypes ?Immunodeficiency 16, 615593 for gene: TNFSF12
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFRSF4
Louise Daugherty Added phenotypes Basal cell carcinoma, somatic, 605462; Curry-Jones syndrome, somatic mosaic, 601707 for gene: TNFRSF4
20 Feb 2020
Severe Paediatric Disorders v0.10
SMO
Louise Daugherty Added phenotypes Severe obesity with neurobehavioral features for gene: SMO
20 Feb 2020
Severe Paediatric Disorders v0.10
SIM1
Louise Daugherty Added phenotypes Porokeratosis for gene: SIM1
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS15
Louise Daugherty Added phenotypes Polyglucosan body myopathy, early-onset, with or without immunodeficiency for gene: RPS15
20 Feb 2020
Severe Paediatric Disorders v0.10
RNF31
Louise Daugherty Added phenotypes Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 for gene: RNF31
20 Feb 2020
Severe Paediatric Disorders v0.10
RNF135
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 5, 613832 for gene: RNF135
20 Feb 2020
Severe Paediatric Disorders v0.10
PRICKLE2
Louise Daugherty Added phenotypes Autism for gene: PRICKLE2
20 Feb 2020
Severe Paediatric Disorders v0.10
NRXN3
Louise Daugherty Added phenotypes Spinocerebellar ataxia 4, kidney papillary necrosis, IBD, recurrent sinopulmolnary infections, NFAT5 haploinsufficieny for gene: NRXN3
20 Feb 2020
Severe Paediatric Disorders v0.10
NFAT5
Louise Daugherty Added phenotypes Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600; Adenomas, multiple colorectal, 608456; Gastric cancer, somatic, 613659 for gene: NFAT5
20 Feb 2020
Severe Paediatric Disorders v0.10
MUTYH
Louise Daugherty Added phenotypes Angiofibroma, somatic; Carcinoid tumor of lung; Multiple endocrine neoplasia 1, 131100; Lipoma, somatic; Adrenal adenoma, somatic; Parathyroid adenoma, somatic for gene: MUTYH
20 Feb 2020
Severe Paediatric Disorders v0.10
MEN1
Louise Daugherty Added phenotypes {Chronic infections, due to MBL deficiency}, 614372 for gene: MEN1
20 Feb 2020
Severe Paediatric Disorders v0.10
MBL2
Louise Daugherty Added phenotypes Mental retardation for gene: MBL2
20 Feb 2020
Severe Paediatric Disorders v0.10
KIRREL3
Louise Daugherty Added phenotypes Systemic lupus erythematous, suscpetibility to for gene: KIRREL3
20 Feb 2020
Severe Paediatric Disorders v0.10
ITGAM
Louise Daugherty Added phenotypes AutoAb Chronic Mucocutaneous Candidiasis. for gene: ITGAM
20 Feb 2020
Severe Paediatric Disorders v0.10
IL22
Louise Daugherty Added phenotypes Immunodeficiency 5; Arthritis for gene: IL22
20 Feb 2020
Severe Paediatric Disorders v0.10
IL17A
Louise Daugherty Added phenotypes {HIV-1, susceptibility to}, 609423; {Graft-versus-host disease, protection against}, 614395; {Rheumatoid arthritis, progression of}, 180300 for gene: IL17A
20 Feb 2020
Severe Paediatric Disorders v0.10
IL10
Louise Daugherty Added phenotypes {Glioma, susceptibility to, somatic}, 137800 for gene: IL10
20 Feb 2020
Severe Paediatric Disorders v0.10
IDH1
Louise Daugherty Added phenotypes Leiomyoma, uterine, somatic, 150699 for gene: IDH1
20 Feb 2020
Severe Paediatric Disorders v0.10
HMGA2
Louise Daugherty Added phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300; Capillary malformations, congenital, 1, somatic, mosaic, 163000 for gene: HMGA2
20 Feb 2020
Severe Paediatric Disorders v0.10
GNAQ
Louise Daugherty Added phenotypes Periodontitis, susceptibility to for gene: GNAQ
20 Feb 2020
Severe Paediatric Disorders v0.10
EZH1
Louise Daugherty Added phenotypes Dystonia for gene: EZH1
20 Feb 2020
Severe Paediatric Disorders v0.10
DRD2
Louise Daugherty Added phenotypes [Pentosuria], 260800 for gene: DRD2
20 Feb 2020
Severe Paediatric Disorders v0.10
CFHR4
Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR4
20 Feb 2020
Severe Paediatric Disorders v0.10
CFHR2
Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400; {Macular degeneration, age-related, reduced risk of}, 603075 for gene: CFHR2
20 Feb 2020
Severe Paediatric Disorders v0.10
CFHR1
Louise Daugherty Added phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 for gene: CFHR1
20 Feb 2020
Severe Paediatric Disorders v0.10
CD46
Louise Daugherty Added phenotypes {Inflammatory bowel disease (Crohn disease) 10}, 611081 for gene: CD46
20 Feb 2020
Severe Paediatric Disorders v0.10
ACTL6A
Louise Daugherty Added phenotypes Autism spectrum disorders or developmental disorders for gene: ACTL6A
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF292
Louise Daugherty Added phenotypes ?Tetra-amelia syndrome 1, 273395 for gene: ZNF292
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT3
Louise Daugherty Added phenotypes ?Wiskott-Aldrich syndrome 2, 614493 for gene: WNT3
20 Feb 2020
Severe Paediatric Disorders v0.10
WIPF1
Louise Daugherty Added phenotypes ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085; ?Bardet-Biedl syndrome 15, 615992 for gene: WIPF1
20 Feb 2020
Severe Paediatric Disorders v0.10
WDPCP
Louise Daugherty Added phenotypes ?Urocanase deficiency, 276880 for gene: WDPCP
20 Feb 2020
Severe Paediatric Disorders v0.10
UROC1
Louise Daugherty Added phenotypes ?Immunodeficiency 13, 615518; ?Cone-rod dystrophy for gene: UROC1
20 Feb 2020
Severe Paediatric Disorders v0.10
UNC119
Louise Daugherty Added phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 for gene: UNC119
20 Feb 2020
Severe Paediatric Disorders v0.10
TSEN34
Louise Daugherty Added phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 for gene: TSEN34
20 Feb 2020
Severe Paediatric Disorders v0.10
TPM4
Louise Daugherty Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: TPM4
20 Feb 2020
Severe Paediatric Disorders v0.10
SNAP25
Louise Daugherty Added phenotypes ?Exercise intolerance, riboflavin-responsive, 616839 for gene: SNAP25
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A32
Louise Daugherty Added phenotypes ?Parkinsonism-dystonia, infantile, 2, 618049 for gene: SLC25A32
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC18A2
Louise Daugherty Added phenotypes ?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726; ?Amyotrophic lateral sclerosis 16, juvenile, 614373 for gene: SLC18A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SIGMAR1
Louise Daugherty Added phenotypes ?CHARGE syndrome, 214800 for gene: SIGMAR1
20 Feb 2020
Severe Paediatric Disorders v0.10
SEMA3E
Louise Daugherty Added phenotypes ?Leukoencephalopathy with dystonia and motor neuropathy, 613724 for gene: SEMA3E
20 Feb 2020
Severe Paediatric Disorders v0.10
SCP2
Louise Daugherty Added phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, 618307 for gene: SCP2
20 Feb 2020
Severe Paediatric Disorders v0.10
RHOH
Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: RHOH
20 Feb 2020
Severe Paediatric Disorders v0.10
REEP2
Louise Daugherty Added phenotypes Small cell cancer of the lung, somatic, 182280; Osteosarcoma, somatic, 259500; Retinoblastoma, trilateral, 180200; Retinoblastoma, 180200; Bladder cancer, somatic, 109800 for gene: REEP2
20 Feb 2020
Severe Paediatric Disorders v0.10
RB1
Louise Daugherty Added phenotypes {Autism, susceptibility to, X-linked 4}, 300830 for gene: RB1
20 Feb 2020
Severe Paediatric Disorders v0.10
PTCHD1
Louise Daugherty Added phenotypes ?Bleeding disorder, platelet-type, 19, 616176 for gene: PTCHD1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKACG
Louise Daugherty Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PRKACG
20 Feb 2020
Severe Paediatric Disorders v0.10
PNPLA8
Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX11B
Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
20 Feb 2020
Severe Paediatric Disorders v0.10
PCK1
Louise Daugherty Added phenotypes ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 for gene: PCK1
20 Feb 2020
Severe Paediatric Disorders v0.10
NIN
Louise Daugherty Added phenotypes ?Seckel syndrome 7, 614851 for gene: NIN
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA2
Louise Daugherty Added phenotypes ?Mitochondrial complex I deficiency, nuclear type 13, 618235 for gene: NDUFA2
20 Feb 2020
Severe Paediatric Disorders v0.10
NCF4
Louise Daugherty Added phenotypes ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 for gene: NCF4
20 Feb 2020
Severe Paediatric Disorders v0.10
NADK2
Louise Daugherty Added phenotypes ?2,4-dienoyl-CoA reductase deficiency, 616034 for gene: NADK2
20 Feb 2020
Severe Paediatric Disorders v0.10
MTPAP
Louise Daugherty Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
20 Feb 2020
Severe Paediatric Disorders v0.10
MRPL44
Louise Daugherty Added phenotypes ?Combined oxidative phosphorylation deficiency 16, 615395 for gene: MRPL44
20 Feb 2020
Severe Paediatric Disorders v0.10
LIG1
Louise Daugherty Added phenotypes DNA ligase I deficiency for gene: LIG1
20 Feb 2020
Severe Paediatric Disorders v0.10
LCK
Louise Daugherty Added phenotypes ?Immunodeficiency 22, 615758 for gene: LCK
20 Feb 2020
Severe Paediatric Disorders v0.10
KIAA0753
Louise Daugherty Added phenotypes ?Orofaciodigital syndrome XV, 617127 for gene: KIAA0753
20 Feb 2020
Severe Paediatric Disorders v0.10
KCNT2
Louise Daugherty Added phenotypes ?Epileptic encephalopathy, early infantile, 57, 617771 for gene: KCNT2
20 Feb 2020
Severe Paediatric Disorders v0.10
IRF7
Louise Daugherty Added phenotypes ?Immunodeficiency 39, 616345 for gene: IRF7
20 Feb 2020
Severe Paediatric Disorders v0.10
IL21
Louise Daugherty Added phenotypes ?Immunodeficiency, common variable, 11, 615767 for gene: IL21
20 Feb 2020
Severe Paediatric Disorders v0.10
IL17F
Louise Daugherty Added phenotypes ?Candidiasis, familial, 6, autosomal dominant, 613956 for gene: IL17F
20 Feb 2020
Severe Paediatric Disorders v0.10
HYAL1
Louise Daugherty Added phenotypes ?Mucopolysaccharidosis type IX, 601492 for gene: HYAL1
20 Feb 2020
Severe Paediatric Disorders v0.10
HARS2
Louise Daugherty Added phenotypes ?Perrault syndrome 2, 614926 for gene: HARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
GFI1
Louise Daugherty Added phenotypes ?Neutropenia, severe congenital 2, autosomal dominant, 613107; ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 for gene: GFI1
20 Feb 2020
Severe Paediatric Disorders v0.10
GAD1
Louise Daugherty Added phenotypes ?Cerebral palsy, spastic quadriplegic, 1, 603513 for gene: GAD1
20 Feb 2020
Severe Paediatric Disorders v0.10
FRMD4A
Louise Daugherty Added phenotypes ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 for gene: FRMD4A
20 Feb 2020
Severe Paediatric Disorders v0.10
FASTKD2
Louise Daugherty Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: FASTKD2
20 Feb 2020
Severe Paediatric Disorders v0.10
DDOST
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type Ir, 614507 for gene: DDOST
20 Feb 2020
Severe Paediatric Disorders v0.10
CPT1C
Louise Daugherty Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
20 Feb 2020
Severe Paediatric Disorders v0.10
COX14
Louise Daugherty Added phenotypes ?Mitochondrial complex IV deficiency, 220110 for gene: COX14
20 Feb 2020
Severe Paediatric Disorders v0.10
COQ7
Louise Daugherty Added phenotypes ?Coenzyme Q10 deficiency, primary, 8, 616733 for gene: COQ7
20 Feb 2020
Severe Paediatric Disorders v0.10
CFB
Louise Daugherty Added phenotypes ?Complement factor B deficiency, 615561 for gene: CFB
20 Feb 2020
Severe Paediatric Disorders v0.10
CDC6
Louise Daugherty Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6
20 Feb 2020
Severe Paediatric Disorders v0.10
CASP8
Louise Daugherty Added phenotypes ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 for gene: CASP8
20 Feb 2020
Severe Paediatric Disorders v0.10
BLNK
Louise Daugherty Added phenotypes ?Agammaglobulinemia 4, 613502 for gene: BLNK
20 Feb 2020
Severe Paediatric Disorders v0.10
BCL10
Louise Daugherty Added phenotypes ?Immunodeficiency 37, 616098 for gene: BCL10
20 Feb 2020
Severe Paediatric Disorders v0.10
ATPAF2
Louise Daugherty Added phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 for gene: ATPAF2
20 Feb 2020
Severe Paediatric Disorders v0.10
ATP8A2
Louise Daugherty Added phenotypes ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 for gene: ATP8A2
20 Feb 2020
Severe Paediatric Disorders v0.10
APOL1
Louise Daugherty Added phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551; {End-stage renal disease, nondiabetic, susceptibility to}, 612551 for gene: APOL1
20 Feb 2020
Severe Paediatric Disorders v0.10
ADAM17
Louise Daugherty Added phenotypes ?Inflammatory skin and bowel disease, neonatal, 1, 614328 for gene: ADAM17
20 Feb 2020
Severe Paediatric Disorders v0.10
ACD
Louise Daugherty Added phenotypes ?Dyskeratosis congenita, autosomal dominant 6, 616553; ?Dyskeratosis congenita, autosomal recessive 7, 616553 for gene: ACD
20 Feb 2020
Severe Paediatric Disorders v0.10
ZSWIM6
Louise Daugherty Added phenotypes Acromelic frontonasal dysostosis, 603671; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, 617865 for gene: ZSWIM6
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF711
Louise Daugherty Added phenotypes Mental retardation, X-linked 97, 300803 for gene: ZNF711
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF469
Louise Daugherty Added phenotypes Brittle cornea syndrome 1, 229200 for gene: ZNF469
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF462
Louise Daugherty Added phenotypes Weiss-Kruszka syndrome, 618619 for gene: ZNF462
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF148
Louise Daugherty Added phenotypes Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 for gene: ZNF148
20 Feb 2020
Severe Paediatric Disorders v0.10
ZNF142
Louise Daugherty Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
20 Feb 2020
Severe Paediatric Disorders v0.10
ZMYND11
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 30, 616083 for gene: ZMYND11
20 Feb 2020
Severe Paediatric Disorders v0.10
ZMPSTE24
Louise Daugherty Added phenotypes Mandibuloacral dysplasia with type B lipodystrophy, 608612; Restrictive dermopathy, lethal, 275210 for gene: ZMPSTE24
20 Feb 2020
Severe Paediatric Disorders v0.10
ZMIZ1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies for gene: ZMIZ1
20 Feb 2020
Severe Paediatric Disorders v0.10
ZIC3
Louise Daugherty Added phenotypes VACTERL association, X-linked, 314390; Heterotaxy, visceral, 1, X-linked, 306955; Congenital heart defects, nonsyndromic, 1, X-linked, 306955 for gene: ZIC3
20 Feb 2020
Severe Paediatric Disorders v0.10
ZIC2
Louise Daugherty Added phenotypes Holoprosencephaly 5, 609637 for gene: ZIC2
20 Feb 2020
Severe Paediatric Disorders v0.10
ZIC1
Louise Daugherty Added phenotypes Craniosynostosis 6, 616602 for gene: ZIC1
20 Feb 2020
Severe Paediatric Disorders v0.10
ZFYVE26
Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
20 Feb 2020
Severe Paediatric Disorders v0.10
ZFP57
Louise Daugherty Added phenotypes Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
20 Feb 2020
Severe Paediatric Disorders v0.10
ZEB2
Louise Daugherty Added phenotypes Mowat-Wilson syndrome, 235730 for gene: ZEB2
20 Feb 2020
Severe Paediatric Disorders v0.10
ZDHHC9
Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Raymond type, 300799 for gene: ZDHHC9
20 Feb 2020
Severe Paediatric Disorders v0.10
ZC4H2
Louise Daugherty Added phenotypes Wieacker-Wolff syndrome, 314580 for gene: ZC4H2
20 Feb 2020
Severe Paediatric Disorders v0.10
ZBTB24
Louise Daugherty Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2, 614069 for gene: ZBTB24
20 Feb 2020
Severe Paediatric Disorders v0.10
ZBTB20
Louise Daugherty Added phenotypes Primrose syndrome, 259050 for gene: ZBTB20
20 Feb 2020
Severe Paediatric Disorders v0.10
ZBTB18
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 22, 612337 for gene: ZBTB18
20 Feb 2020
Severe Paediatric Disorders v0.10
ZAP70
Louise Daugherty Added phenotypes Autoimmune disease, multisystem, infantile-onset, 2, 617006; Immunodeficiency 48, 269840 for gene: ZAP70
20 Feb 2020
Severe Paediatric Disorders v0.10
YY1
Louise Daugherty Added phenotypes Gabriele-de Vries syndrome, 617557 for gene: YY1
20 Feb 2020
Severe Paediatric Disorders v0.10
YWHAG
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 56, 617665 for gene: YWHAG
20 Feb 2020
Severe Paediatric Disorders v0.10
YARS2
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
XYLT2
Louise Daugherty Added phenotypes Spondyloocular syndrome, 605822 for gene: XYLT2
20 Feb 2020
Severe Paediatric Disorders v0.10
XYLT1
Louise Daugherty Added phenotypes Desbuquois dysplasia 2, 615777 for gene: XYLT1
20 Feb 2020
Severe Paediatric Disorders v0.10
XRCC4
Louise Daugherty Added phenotypes Short stature, microcephaly, and endocrine dysfunction, 616541 for gene: XRCC4
20 Feb 2020
Severe Paediatric Disorders v0.10
XPR1
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 6, 616413 for gene: XPR1
20 Feb 2020
Severe Paediatric Disorders v0.10
XPC
Louise Daugherty Added phenotypes Xeroderma pigmentosum, group C, 278720 for gene: XPC
20 Feb 2020
Severe Paediatric Disorders v0.10
XPA
Louise Daugherty Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
20 Feb 2020
Severe Paediatric Disorders v0.10
XIAP
Louise Daugherty Added phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 for gene: XIAP
20 Feb 2020
Severe Paediatric Disorders v0.10
XDH
Louise Daugherty Added phenotypes Xanthinuria, type I, 278300 for gene: XDH
20 Feb 2020
Severe Paediatric Disorders v0.10
WWOX
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211; Spinocerebellar ataxia, autosomal recessive 12, 614322 for gene: WWOX
20 Feb 2020
Severe Paediatric Disorders v0.10
WT1
Louise Daugherty Added phenotypes Wilms tumor, type 1, 194070; Denys-Drash syndrome, 194080; Frasier syndrome, 136680; Meacham syndrome, 608978; Nephrotic syndrome, type 4, 256370 for gene: WT1
20 Feb 2020
Severe Paediatric Disorders v0.10
WRN
Louise Daugherty Added phenotypes Werner syndrome, 277700 for gene: WRN
20 Feb 2020
Severe Paediatric Disorders v0.10
WRAP53
Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 for gene: WRAP53
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT7A
Louise Daugherty Added phenotypes Ulna and fibula, absence of, with severe limb deficiency, 276820; Fuhrmann syndrome, 228930 for gene: WNT7A
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT5A
Louise Daugherty Added phenotypes Robinow syndrome, autosomal dominant 1, 180700 for gene: WNT5A
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT10B
Louise Daugherty Added phenotypes Split-hand/foot malformation 6, 225300; Tooth agenesis, selective, 8, 617073 for gene: WNT10B
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT10A
Louise Daugherty Added phenotypes Tooth agenesis, selective, 4, 150400; Schopf-Schulz-Passarge syndrome, 224750; Odontoonychodermal dysplasia, 257980 for gene: WNT10A
20 Feb 2020
Severe Paediatric Disorders v0.10
WNT1
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XV, 615220 for gene: WNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
WFS1
Louise Daugherty Added phenotypes Deafness, autosomal dominant 6/14/38, 600965; ?Cataract 41, 116400; Wolfram syndrome 1, 222300; Wolfram-like syndrome, autosomal dominant, 614296 for gene: WFS1
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR81
Louise Daugherty Added phenotypes Hydrocephalus, congenital, 3, with brain anomalies, 617967; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 for gene: WDR81
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR73
Louise Daugherty Added phenotypes Galloway-Mowat syndrome 1, 251300 for gene: WDR73
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR62
Louise Daugherty Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 for gene: WDR62
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR60
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 for gene: WDR60
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR45B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR45
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 5, 300894 for gene: WDR45
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR4
Louise Daugherty Added phenotypes Microcephaly, growth deficiency, seizures, and brain malformations, 618346; Galloway-Mowat syndrome 6, 618347 for gene: WDR4
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR37
Louise Daugherty Added phenotypes Neurooculocardiogenitourinary syndrome, 618652 for gene: WDR37
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR35
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, 614091; Cranioectodermal dysplasia 2, 613610 for gene: WDR35
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR34
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 for gene: WDR34
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR26
Louise Daugherty Added phenotypes Skraban-Deardorff syndrome, 617616 for gene: WDR26
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR19
Louise Daugherty Added phenotypes Senior-Loken syndrome 8, 616307; ?Cranioectodermal dysplasia 4, 614378; Nephronophthisis 13, 614377; ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 for gene: WDR19
20 Feb 2020
Severe Paediatric Disorders v0.10
WDR11
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 for gene: WDR11
20 Feb 2020
Severe Paediatric Disorders v0.10
WASHC5
Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563; Ritscher-Schinzel syndrome 1, 220210 for gene: WASHC5
20 Feb 2020
Severe Paediatric Disorders v0.10
WASF1
Louise Daugherty Added phenotypes Intellectual Disability with Seizures. for gene: WASF1
20 Feb 2020
Severe Paediatric Disorders v0.10
WAS
Louise Daugherty Added phenotypes Thrombocytopenia, X-linked, intermittent, 313900; Neutropenia, severe congenital, X-linked, 300299; Wiskott-Aldrich syndrome, 301000; Thrombocytopenia, X-linked, 313900 for gene: WAS
20 Feb 2020
Severe Paediatric Disorders v0.10
WARS2
Louise Daugherty Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
WAC
Louise Daugherty Added phenotypes Desanto-Shinawi syndrome, 616708 for gene: WAC
20 Feb 2020
Severe Paediatric Disorders v0.10
VWF
Louise Daugherty Added phenotypes von Willibrand disease, type 3, 277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554; von Willebrand disease, type 1, 193400 for gene: VWF
20 Feb 2020
Severe Paediatric Disorders v0.10
VSX2
Louise Daugherty Added phenotypes Microphthalmia with coloboma 3, 610092; Microphthalmia, isolated 2, 610093 for gene: VSX2
20 Feb 2020
Severe Paediatric Disorders v0.10
VRK1
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 1A, 607596 for gene: VRK1
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS53
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 2E, 615851 for gene: VPS53
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS45
Louise Daugherty Added phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 for gene: VPS45
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS33B
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 for gene: VPS33B
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS13D
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 for gene: VPS13D
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS13B
Louise Daugherty Added phenotypes Cohen syndrome, 216550 for gene: VPS13B
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS13A
Louise Daugherty Added phenotypes Choreoacanthocytosis, 200150 for gene: VPS13A
20 Feb 2020
Severe Paediatric Disorders v0.10
VPS11
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 for gene: VPS11
20 Feb 2020
Severe Paediatric Disorders v0.10
VMA21
Louise Daugherty Added phenotypes Myopathy, X-linked, with excessive autophagy, 310440 for gene: VMA21
20 Feb 2020
Severe Paediatric Disorders v0.10
VLDLR
Louise Daugherty Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 for gene: VLDLR
20 Feb 2020
Severe Paediatric Disorders v0.10
VKORC1
Louise Daugherty Added phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473; Warfarin resistance, 122700 for gene: VKORC1
20 Feb 2020
Severe Paediatric Disorders v0.10
VIPAS39
Louise Daugherty Added phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 for gene: VIPAS39
20 Feb 2020
Severe Paediatric Disorders v0.10
VHL
Louise Daugherty Added phenotypes Erythrocytosis, familial, 2, 263400; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
20 Feb 2020
Severe Paediatric Disorders v0.10
VDR
Louise Daugherty Added phenotypes Rickets, vitamin D-resistant, type IIA, 277440 for gene: VDR
20 Feb 2020
Severe Paediatric Disorders v0.10
VCP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320; Charcot-Marie-Tooth disease, type 2Y, 616687 for gene: VCP
20 Feb 2020
Severe Paediatric Disorders v0.10
VCAN
Louise Daugherty Added phenotypes Wagner syndrome 1, 143200 for gene: VCAN
20 Feb 2020
Severe Paediatric Disorders v0.10
VARS2
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 20, 615917 for gene: VARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
VARS
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
20 Feb 2020
Severe Paediatric Disorders v0.10
VAMP2
Louise Daugherty Added phenotypes Stereotypic behavior; Global developmental delay; Generalized hypotonia; Abnormality of movement; Autistic behavior; Seizures; Cortical visual impairment; Intellectual disability; Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2
20 Feb 2020
Severe Paediatric Disorders v0.10
VAMP1
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 25, 618323; Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
20 Feb 2020
Severe Paediatric Disorders v0.10
VAC14
Louise Daugherty Added phenotypes Striatonigral degeneration, childhood-onset, 617054 for gene: VAC14
20 Feb 2020
Severe Paediatric Disorders v0.10
UVSSA
Louise Daugherty Added phenotypes UV-sensitive syndrome 3, 614640 for gene: UVSSA
20 Feb 2020
Severe Paediatric Disorders v0.10
USP9X
Louise Daugherty Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted, 300968; Mental retardation, X-linked 99, 300919 for gene: USP9X
20 Feb 2020
Severe Paediatric Disorders v0.10
USP18
Louise Daugherty Added phenotypes Pseudo-TORCH syndrome 2, 617397 for gene: USP18
20 Feb 2020
Severe Paediatric Disorders v0.10
USH2A
Louise Daugherty Added phenotypes Usher syndrome, type 2A, 276901; Retinitis pigmentosa 39, 613809 for gene: USH2A
20 Feb 2020
Severe Paediatric Disorders v0.10
USH1G
Louise Daugherty Added phenotypes Usher syndrome, type 1G, 606943 for gene: USH1G
20 Feb 2020
Severe Paediatric Disorders v0.10
USH1C
Louise Daugherty Added phenotypes Usher syndrome, type 1C, 276904; Deafness, autosomal recessive 18A, 602092 for gene: USH1C
20 Feb 2020
Severe Paediatric Disorders v0.10
USB1
Louise Daugherty Added phenotypes Poikiloderma with neutropenia, 604173 for gene: USB1
20 Feb 2020
Severe Paediatric Disorders v0.10
UROS
Louise Daugherty Added phenotypes Porphyria, congenital erythropoietic, 263700 for gene: UROS
20 Feb 2020
Severe Paediatric Disorders v0.10
UROD
Louise Daugherty Added phenotypes Porphyria cutanea tarda, 176100; Porphyria, hepatoerythropoietic, 176100 for gene: UROD
20 Feb 2020
Severe Paediatric Disorders v0.10
UQCRB
Louise Daugherty Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB
20 Feb 2020
Severe Paediatric Disorders v0.10
UQCC2
Louise Daugherty Added phenotypes Mitochondrial complex III deficiency, nuclear type 7, 615824 for gene: UQCC2
20 Feb 2020
Severe Paediatric Disorders v0.10
UPF3B
Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 14, 300676 for gene: UPF3B
20 Feb 2020
Severe Paediatric Disorders v0.10
UNG
Louise Daugherty Added phenotypes Immunodeficiency with hyper IgM, type 5, 608106 for gene: UNG
20 Feb 2020
Severe Paediatric Disorders v0.10
UNC93B1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 for gene: UNC93B1
20 Feb 2020
Severe Paediatric Disorders v0.10
UNC80
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 for gene: UNC80
20 Feb 2020
Severe Paediatric Disorders v0.10
UNC13D
Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 for gene: UNC13D
20 Feb 2020
Severe Paediatric Disorders v0.10
UMPS
Louise Daugherty Added phenotypes Orotic aciduria, 258900 for gene: UMPS
20 Feb 2020
Severe Paediatric Disorders v0.10
UMOD
Louise Daugherty Added phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886; Medullary cystic kidney disease 2, 603860; Hyperuricemic nephropathy, familial juvenile 1, 162000 for gene: UMOD
20 Feb 2020
Severe Paediatric Disorders v0.10
UGT1A1
Louise Daugherty Added phenotypes Crigler-Najjar syndrome, type I, 218800; Crigler-Najjar syndrome, type II, 606785; Hyperbilirubinemia, familial transient neonatal, 237900 for gene: UGT1A1
20 Feb 2020
Severe Paediatric Disorders v0.10
UFM1
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 14, 617899 for gene: UFM1
20 Feb 2020
Severe Paediatric Disorders v0.10
UFC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
20 Feb 2020
Severe Paediatric Disorders v0.10
UCHL1
Louise Daugherty Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491 for gene: UCHL1
20 Feb 2020
Severe Paediatric Disorders v0.10
UBTF
Louise Daugherty Added phenotypes Neurodegeneration, childhood-onset, with brain atrophy, 617672 for gene: UBTF
20 Feb 2020
Severe Paediatric Disorders v0.10
UBR1
Louise Daugherty Added phenotypes Johanson-Blizzard syndrome, 243800 for gene: UBR1
20 Feb 2020
Severe Paediatric Disorders v0.10
UBE3B
Louise Daugherty Added phenotypes Kaufman oculocerebrofacial syndrome, 244450 for gene: UBE3B
20 Feb 2020
Severe Paediatric Disorders v0.10
UBE3A
Louise Daugherty Added phenotypes Angelman syndrome, 105830 for gene: UBE3A
20 Feb 2020
Severe Paediatric Disorders v0.10
UBE2T
Louise Daugherty Added phenotypes Fanconi anemia, complementation group T, 616435 for gene: UBE2T
20 Feb 2020
Severe Paediatric Disorders v0.10
UBE2A
Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Nascimento-type, 300860 for gene: UBE2A
20 Feb 2020
Severe Paediatric Disorders v0.10
UBAP1
Louise Daugherty Added phenotypes Spastic paraplegia 80, autosomal dominant, 618418 for gene: UBAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
UBA5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132; ?Spinocerebellar ataxia, autosomal recessive 24, 617133 for gene: UBA5
20 Feb 2020
Severe Paediatric Disorders v0.10
UBA1
Louise Daugherty Added phenotypes Spinal muscular atrophy, X-linked 2, infantile, 301830 for gene: UBA1
20 Feb 2020
Severe Paediatric Disorders v0.10
TYRP1
Louise Daugherty Added phenotypes Albinism, oculocutaneous, type III, 203290 for gene: TYRP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TYROBP
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TYR
Louise Daugherty Added phenotypes Albinism, oculocutaneous, type IB, 606952; Albinism, oculocutaneous, type IA, 203100; Waardenburg syndrome/albinism, digenic, 103470 for gene: TYR
20 Feb 2020
Severe Paediatric Disorders v0.10
TYMP
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 for gene: TYMP
20 Feb 2020
Severe Paediatric Disorders v0.10
TYK2
Louise Daugherty Added phenotypes Immunodeficiency 35, 611521 for gene: TYK2
20 Feb 2020
Severe Paediatric Disorders v0.10
TXNL4A
Louise Daugherty Added phenotypes Burn-McKeown syndrome, 608572 for gene: TXNL4A
20 Feb 2020
Severe Paediatric Disorders v0.10
TXNDC15
Louise Daugherty Added phenotypes Meckel-Gruber syndrome; MGS for gene: TXNDC15
20 Feb 2020
Severe Paediatric Disorders v0.10
TWNK
Louise Daugherty Added phenotypes Perrault syndrome 5, 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 for gene: TWNK
20 Feb 2020
Severe Paediatric Disorders v0.10
TWIST2
Louise Daugherty Added phenotypes Ablepharon-macrostomia syndrome, 200110; Focal facial dermal dysplasia 3, Setleis type, 227260; Barber-Say syndrome, 209885 for gene: TWIST2
20 Feb 2020
Severe Paediatric Disorders v0.10
TWIST1
Louise Daugherty Added phenotypes Saethre-Chotzen syndrome with or without eyelid anomalies, 101400; Sweeney-Cox syndrome, 617746; Robinow-Sorauf syndrome, 180750; Craniosynostosis 1, 123100 for gene: TWIST1
20 Feb 2020
Severe Paediatric Disorders v0.10
TUSC3
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 7, 611093 for gene: TUSC3
20 Feb 2020
Severe Paediatric Disorders v0.10
TUFM
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 4, 610678 for gene: TUFM
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBGCP6
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 for gene: TUBGCP6
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBGCP4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 for gene: TUBGCP4
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBG1
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 4, 615412 for gene: TUBG1
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB4A
Louise Daugherty Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB3
Louise Daugherty Added phenotypes Fibrosis of extraocular muscles, congenital, 3A, 600638; Cortical dysplasia, complex, with other brain malformations 1, 614039 for gene: TUBB3
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB2B
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 7, 610031 for gene: TUBB2B
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB2A
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 5, 615763 for gene: TUBB2A
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB1
Louise Daugherty Added phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 for gene: TUBB1
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBB
Louise Daugherty Added phenotypes Symmetric circumferential skin creases, congenital, 1, 156610; Cortical dysplasia, complex, with other brain malformations 6, 615771 for gene: TUBB
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBA8
Louise Daugherty Added phenotypes Cortical dysplasia, complex, with other brain malformations 8, 613180 for gene: TUBA8
20 Feb 2020
Severe Paediatric Disorders v0.10
TUBA1A
Louise Daugherty Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
20 Feb 2020
Severe Paediatric Disorders v0.10
TTR
Louise Daugherty Added phenotypes Carpal tunnel syndrome, familial, 115430; Amyloidosis, hereditary, transthyretin-related, 105210 for gene: TTR
20 Feb 2020
Severe Paediatric Disorders v0.10
TTPA
Louise Daugherty Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 for gene: TTPA
20 Feb 2020
Severe Paediatric Disorders v0.10
TTN
Louise Daugherty Added phenotypes Tibial muscular dystrophy, tardive, 600334; Salih myopathy, 611705; Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807; Myopathy, myofibrillar, 9, with early respiratory failure, 603689; Cardiomyopathy, familial hypertrophic, 9, 613765; Cardiomyopathy, dilated, 1G, 604145 for gene: TTN
20 Feb 2020
Severe Paediatric Disorders v0.10
TTI2
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 39, 615541 for gene: TTI2
20 Feb 2020
Severe Paediatric Disorders v0.10
TTC8
Louise Daugherty Added phenotypes ?Retinitis pigmentosa 51, 613464; Bardet-Biedl syndrome 8, 615985 for gene: TTC8
20 Feb 2020
Severe Paediatric Disorders v0.10
TTC7A
Louise Daugherty Added phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 for gene: TTC7A
20 Feb 2020
Severe Paediatric Disorders v0.10
TTC37
Louise Daugherty Added phenotypes Trichohepatoenteric syndrome 1, 222470 for gene: TTC37
20 Feb 2020
Severe Paediatric Disorders v0.10
TTC21B
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, 613819; Nephronophthisis 12, 613820 for gene: TTC21B
20 Feb 2020
Severe Paediatric Disorders v0.10
TTC19
Louise Daugherty Added phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 for gene: TTC19
20 Feb 2020
Severe Paediatric Disorders v0.10
TTBK2
Louise Daugherty Added phenotypes Spinocerebellar ataxia 11, 604432 for gene: TTBK2
20 Feb 2020
Severe Paediatric Disorders v0.10
TSPAN7
Louise Daugherty Added phenotypes Mental retardation, X-linked 58, 300210 for gene: TSPAN7
20 Feb 2020
Severe Paediatric Disorders v0.10
TSHR
Louise Daugherty Added phenotypes Hyperthyroidism, nonautoimmune, 609152; Hyperthyroidism, familial gestational, 603373; Hypothyroidism, congenital, nongoitrous, 1, 275200 for gene: TSHR
20 Feb 2020
Severe Paediatric Disorders v0.10
TSHB
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous 4, 275100 for gene: TSHB
20 Feb 2020
Severe Paediatric Disorders v0.10
TSFM
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 3, 610505 for gene: TSFM
20 Feb 2020
Severe Paediatric Disorders v0.10
TSEN54
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 4, 225753; Pontocerebellar hypoplasia type 2A, 277470; ?Pontocerebellar hypoplasia type 5, 610204 for gene: TSEN54
20 Feb 2020
Severe Paediatric Disorders v0.10
TSEN2
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2B, 612389 for gene: TSEN2
20 Feb 2020
Severe Paediatric Disorders v0.10
TSC2
Louise Daugherty Added phenotypes Tuberous sclerosis-2, 613254 for gene: TSC2
20 Feb 2020
Severe Paediatric Disorders v0.10
TSC1
Louise Daugherty Added phenotypes Tuberous sclerosis-1, 191100; Lymphangioleiomyomatosis, 606690 for gene: TSC1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRRAP
Louise Daugherty Added phenotypes Developmental delay with or without dysmorphic facies and autism, 618454 for gene: TRRAP
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPV6
Louise Daugherty Added phenotypes Hyperparathyroidism, transient neonatal, 618188 for gene: TRPV6
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPV4
Louise Daugherty Added phenotypes Digital arthropathy-brachydactyly, familial, 606835; Metatropic dysplasia, 156530; [Sodium serum level QTL 1], 613508; Brachyolmia type 3, 113500; Hereditary motor and sensory neuropathy, type IIc, 606071; Scapuloperoneal spinal muscular atrophy, 181405; Spinal muscular atrophy, distal, congenital nonprogressive, 600175; Spondylometaphyseal dysplasia, Kozlowski type, 184252; SED, Maroteaux type, 184095; ?Avascular necrosis of femoral head, primary, 2, 617383; Parastremmatic dwarfism, 168400 for gene: TRPV4
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPS1
Louise Daugherty Added phenotypes Trichorhinophalangeal syndrome, type I, 190350; Trichorhinophalangeal syndrome, type III, 190351 for gene: TRPS1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPM6
Louise Daugherty Added phenotypes Hypomagnesemia 1, intestinal, 602014 for gene: TRPM6
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPM4
Louise Daugherty Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPM1
Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRPC6
Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 2, 603965 for gene: TRPC6
20 Feb 2020
Severe Paediatric Disorders v0.10
TRNT1
Louise Daugherty Added phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084; Retinitis pigmentosa and erythrocytic microcytosis, 616959 for gene: TRNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRMU
Louise Daugherty Added phenotypes Liver failure, transient infantile, 613070 for gene: TRMU
20 Feb 2020
Severe Paediatric Disorders v0.10
TRMT5
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 26, 616539 for gene: TRMT5
20 Feb 2020
Severe Paediatric Disorders v0.10
TRMT10C
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
20 Feb 2020
Severe Paediatric Disorders v0.10
TRMT10A
Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 for gene: TRMT10A
20 Feb 2020
Severe Paediatric Disorders v0.10
TRMT1
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 68, 618302 for gene: TRMT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIT1
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 35, 617873 for gene: TRIT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIP4
Louise Daugherty Added phenotypes ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066; Spinal muscular atrophy with congenital bone fractures 1, 616866 for gene: TRIP4
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIP12
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 49, 617752 for gene: TRIP12
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIP11
Louise Daugherty Added phenotypes Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600 for gene: TRIP11
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIOBP
Louise Daugherty Added phenotypes Deafness, autosomal recessive 28, 609823 for gene: TRIOBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIO
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 44, 617061 for gene: TRIO
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIM8
Louise Daugherty Added phenotypes Seizures; Global developmental delay; Intellectual disability for gene: TRIM8
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIM71
Louise Daugherty Added phenotypes Congenital hydrocephalus for gene: TRIM71
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIM37
Louise Daugherty Added phenotypes Mulibrey nanism, 253250 for gene: TRIM37
20 Feb 2020
Severe Paediatric Disorders v0.10
TRIM32
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110; ?Bardet-Biedl syndrome 11, 615988 for gene: TRIM32
20 Feb 2020
Severe Paediatric Disorders v0.10
TREX1
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, 225750; Chilblain lupus, 610448; Vasculopathy, retinal, with cerebral leukodystrophy, 192315 for gene: TREX1
20 Feb 2020
Severe Paediatric Disorders v0.10
TREM2
Louise Daugherty Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAPPC9
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 13, 613192 for gene: TRAPPC9
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAPPC2
Louise Daugherty Added phenotypes Spondyloepiphyseal dysplasia tarda, 313400 for gene: TRAPPC2
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAPPC12
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 for gene: TRAPPC12
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAPPC11
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 for gene: TRAPPC11
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAP1
Louise Daugherty Added phenotypes CAKUT; VACTERL for gene: TRAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 68, 618201 for gene: TRAK1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAIP
Louise Daugherty Added phenotypes Seckel syndrome 9, 616777 for gene: TRAIP
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAF7
Louise Daugherty Added phenotypes Cardiac, facial, and digital anomalies with developmental delay, 618164 for gene: TRAF7
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAF3IP1
Louise Daugherty Added phenotypes Senior-Loken syndrome 9, 616629 for gene: TRAF3IP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TRAC
Louise Daugherty Added phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, 615387 for gene: TRAC
20 Feb 2020
Severe Paediatric Disorders v0.10
TPRKB
Louise Daugherty Added phenotypes Galloway-Mowat syndrome 5, 617731 for gene: TPRKB
20 Feb 2020
Severe Paediatric Disorders v0.10
TPP2
Louise Daugherty Added phenotypes TPP2 deficiency for gene: TPP2
20 Feb 2020
Severe Paediatric Disorders v0.10
TPP1
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TPO
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 2A, 274500 for gene: TPO
20 Feb 2020
Severe Paediatric Disorders v0.10
TPM3
Louise Daugherty Added phenotypes Nemaline myopathy 1, autosomal dominant or recessive, 609284; CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: TPM3
20 Feb 2020
Severe Paediatric Disorders v0.10
TPM2
Louise Daugherty Added phenotypes CAP myopathy 2, 609285; Arthrogryposis, distal, type 2B4, 108120; Nemaline myopathy 4, autosomal dominant, 609285; Arthrogryposis, distal, type 1A, 108120 for gene: TPM2
20 Feb 2020
Severe Paediatric Disorders v0.10
TPK1
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 for gene: TPK1
20 Feb 2020
Severe Paediatric Disorders v0.10
TPI1
Louise Daugherty Added phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 for gene: TPI1
20 Feb 2020
Severe Paediatric Disorders v0.10
TP63
Louise Daugherty Added phenotypes Orofacial cleft 8, 618149; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292; Hay-Wells syndrome, 106260; Split-hand/foot malformation 4, 605289; ADULT syndrome, 103285; Limb-mammary syndrome, 603543; Rapp-Hodgkin syndrome, 129400 for gene: TP63
20 Feb 2020
Severe Paediatric Disorders v0.10
TP53RK
Louise Daugherty Added phenotypes Galloway-Mowat syndrome 4, 617730 for gene: TP53RK
20 Feb 2020
Severe Paediatric Disorders v0.10
TP53
Louise Daugherty Added phenotypes Bone marrow failure syndrome 5, 618165; Li-Fraumeni syndrome, 151623 for gene: TP53
20 Feb 2020
Severe Paediatric Disorders v0.10
TOR1A
Louise Daugherty Added phenotypes Dystonia-1, torsion, 128100 for gene: TOR1A
20 Feb 2020
Severe Paediatric Disorders v0.10
TOP3A
Louise Daugherty Added phenotypes Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 for gene: TOP3A
20 Feb 2020
Severe Paediatric Disorders v0.10
TOE1
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 7, 614969 for gene: TOE1
20 Feb 2020
Severe Paediatric Disorders v0.10
TNS2
Louise Daugherty Added phenotypes nephrotic syndrome for gene: TNS2
20 Feb 2020
Severe Paediatric Disorders v0.10
TNNT3
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B2, 618435 for gene: TNNT3
20 Feb 2020
Severe Paediatric Disorders v0.10
TNNT1
Louise Daugherty Added phenotypes Nemaline myopathy 5, Amish type, 605355 for gene: TNNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TNNI2
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 2B1, 601680 for gene: TNNI2
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFSF11
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 2, 259710 for gene: TNFSF11
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFRSF1A
Louise Daugherty Added phenotypes Periodic fever, familial, 142680 for gene: TNFRSF1A
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFRSF13C
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 4, 613494 for gene: TNFRSF13C
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFRSF13B
Louise Daugherty Added phenotypes Immunoglobulin A deficiency 2, 609529; Immunodeficiency, common variable, 2, 240500 for gene: TNFRSF13B
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFRSF11B
Louise Daugherty Added phenotypes Paget disease of bone 5, juvenile-onset, 239000 for gene: TNFRSF11B
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFRSF11A
Louise Daugherty Added phenotypes Osteolysis, familial expansile, 174810; Osteopetrosis, autosomal recessive 7, 612301 for gene: TNFRSF11A
20 Feb 2020
Severe Paediatric Disorders v0.10
TNFAIP3
Louise Daugherty Added phenotypes Autoinflammatory syndrome, familial, Behcet-like, 616744 for gene: TNFAIP3
20 Feb 2020
Severe Paediatric Disorders v0.10
TMTC3
Louise Daugherty Added phenotypes Lissencephaly 8, 617255 for gene: TMTC3
20 Feb 2020
Severe Paediatric Disorders v0.10
TMPRSS6
Louise Daugherty Added phenotypes Iron-refractory iron deficiency anemia, 206200 for gene: TMPRSS6
20 Feb 2020
Severe Paediatric Disorders v0.10
TMPRSS3
Louise Daugherty Added phenotypes Deafness, autosomal recessive 8/10, 601072 for gene: TMPRSS3
20 Feb 2020
Severe Paediatric Disorders v0.10
TMIE
Louise Daugherty Added phenotypes Deafness, autosomal recessive 6, 600971 for gene: TMIE
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM94
Louise Daugherty Added phenotypes Intellectual developmental disorder with cardiac defects and dysmorphic facies, 618316 for gene: TMEM94
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM70
Louise Daugherty Added phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 for gene: TMEM70
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM67
Louise Daugherty Added phenotypes Joubert syndrome 6, 610688; COACH syndrome, 216360; Meckel syndrome 3, 607361; ?RHYNS syndrome, 602152; Nephronophthisis 11, 613550 for gene: TMEM67
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM43
Louise Daugherty Added phenotypes Arrhythmogenic right ventricular dysplasia 5, 604400; Emery-Dreifuss muscular dystrophy 7, AD, 614302 for gene: TMEM43
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM38B
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type XIV, 615066 for gene: TMEM38B
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM240
Louise Daugherty Added phenotypes Spinocerebellar ataxia 21, 607454 for gene: TMEM240
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM237
Louise Daugherty Added phenotypes Joubert syndrome 14, 614424 for gene: TMEM237
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM231
Louise Daugherty Added phenotypes Joubert syndrome 20, 614970; Meckel syndrome 11, 615397 for gene: TMEM231
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM216
Louise Daugherty Added phenotypes Meckel syndrome 2, 603194; Joubert syndrome 2, 608091 for gene: TMEM216
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM165
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM138
Louise Daugherty Added phenotypes Joubert syndrome 16, 614465 for gene: TMEM138
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM126B
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 29, 618250 for gene: TMEM126B
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM107
Louise Daugherty Added phenotypes Orofaciodigital syndrome XVI, 617563; ?Joubert syndrome 29, 617562; Meckel syndrome 13, 617562 for gene: TMEM107
20 Feb 2020
Severe Paediatric Disorders v0.10
TMCO1
Louise Daugherty Added phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 for gene: TMCO1
20 Feb 2020
Severe Paediatric Disorders v0.10
TMC8
Louise Daugherty Added phenotypes Epidermodysplasia verruciformis 2, 618231 for gene: TMC8
20 Feb 2020
Severe Paediatric Disorders v0.10
TMC6
Louise Daugherty Added phenotypes Epidermodysplasia verruciformis, 226400 for gene: TMC6
20 Feb 2020
Severe Paediatric Disorders v0.10
TMC1
Louise Daugherty Added phenotypes Deafness, autosomal dominant 36, 606705; Deafness, autosomal recessive 7, 600974 for gene: TMC1
20 Feb 2020
Severe Paediatric Disorders v0.10
TLR3
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 for gene: TLR3
20 Feb 2020
Severe Paediatric Disorders v0.10
TLK2
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 57, 618050 for gene: TLK2
20 Feb 2020
Severe Paediatric Disorders v0.10
TK2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560; ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 for gene: TK2
20 Feb 2020
Severe Paediatric Disorders v0.10
TJP2
Louise Daugherty Added phenotypes Hypercholanemia, familial, 607748; Cholestasis, progressive familial intrahepatic 4, 615878 for gene: TJP2
20 Feb 2020
Severe Paediatric Disorders v0.10
TINF2
Louise Daugherty Added phenotypes Revesz syndrome, 268130; Dyskeratosis congenita, autosomal dominant 3, 613990 for gene: TINF2
20 Feb 2020
Severe Paediatric Disorders v0.10
TIMM8A
Louise Daugherty Added phenotypes Mohr-Tranebjaerg syndrome, 304700 for gene: TIMM8A
20 Feb 2020
Severe Paediatric Disorders v0.10
TIMM50
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type IX, 617698 for gene: TIMM50
20 Feb 2020
Severe Paediatric Disorders v0.10
TICAM1
Louise Daugherty Added phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 for gene: TICAM1
20 Feb 2020
Severe Paediatric Disorders v0.10
TIA1
Louise Daugherty Added phenotypes Welander distal myopathy, 604454 for gene: TIA1
20 Feb 2020
Severe Paediatric Disorders v0.10
THRB
Louise Daugherty Added phenotypes Thyroid hormone resistance, selective pituitary, 145650; Thyroid hormone resistance, 188570; Thyroid hormone resistance, autosomal recessive, 274300 for gene: THRB
20 Feb 2020
Severe Paediatric Disorders v0.10
THRA
Louise Daugherty Added phenotypes Hypothyroidism, congenital, nongoitrous, 6, 614450 for gene: THRA
20 Feb 2020
Severe Paediatric Disorders v0.10
THPO
Louise Daugherty Added phenotypes Thrombocythemia 1, 187950 for gene: THPO
20 Feb 2020
Severe Paediatric Disorders v0.10
THOC6
Louise Daugherty Added phenotypes Beaulieu-Boycott-Innes syndrome, 613680 for gene: THOC6
20 Feb 2020
Severe Paediatric Disorders v0.10
THOC2
Louise Daugherty Added phenotypes Mental retardation, X-linked 12/35, 300957 for gene: THOC2
20 Feb 2020
Severe Paediatric Disorders v0.10
THBD
Louise Daugherty Added phenotypes Thrombophilia due to thrombomodulin defect, 614486 for gene: THBD
20 Feb 2020
Severe Paediatric Disorders v0.10
THAP1
Louise Daugherty Added phenotypes Dystonia 6, torsion, 602629 for gene: THAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TH
Louise Daugherty Added phenotypes Segawa syndrome, recessive, 605407 for gene: TH
20 Feb 2020
Severe Paediatric Disorders v0.10
TGM6
Louise Daugherty Added phenotypes Spinocerebellar ataxia 35, 613908 for gene: TGM6
20 Feb 2020
Severe Paediatric Disorders v0.10
TGM5
Louise Daugherty Added phenotypes Peeling skin syndrome 2, 609796 for gene: TGM5
20 Feb 2020
Severe Paediatric Disorders v0.10
TGM1
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 for gene: TGM1
20 Feb 2020
Severe Paediatric Disorders v0.10
TGIF1
Louise Daugherty Added phenotypes Holoprosencephaly 4, 142946 for gene: TGIF1
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFBR2
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 2, 610168 for gene: TGFBR2
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFBR1
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 1, 609192 for gene: TGFBR1
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFB3
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 5, 615582; Arrhythmogenic right ventricular dysplasia 1, 107970 for gene: TGFB3
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFB2
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 4, 614816 for gene: TGFB2
20 Feb 2020
Severe Paediatric Disorders v0.10
TGFB1
Louise Daugherty Added phenotypes Camurati-Engelmann disease, 131300; Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 for gene: TGFB1
20 Feb 2020
Severe Paediatric Disorders v0.10
TGDS
Louise Daugherty Added phenotypes Catel-Manzke syndrome, 616145 for gene: TGDS
20 Feb 2020
Severe Paediatric Disorders v0.10
TG
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 3, 274700 for gene: TG
20 Feb 2020
Severe Paediatric Disorders v0.10
TFR2
Louise Daugherty Added phenotypes Hemochromatosis, type 3, 604250 for gene: TFR2
20 Feb 2020
Severe Paediatric Disorders v0.10
TFG
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484; ?Spastic paraplegia 57, autosomal recessive, 615658 for gene: TFG
20 Feb 2020
Severe Paediatric Disorders v0.10
TFAP2B
Louise Daugherty Added phenotypes Patent ductus arteriosus 2, 617035; Char syndrome, 169100 for gene: TFAP2B
20 Feb 2020
Severe Paediatric Disorders v0.10
TFAP2A
Louise Daugherty Added phenotypes Branchiooculofacial syndrome, 113620 for gene: TFAP2A
20 Feb 2020
Severe Paediatric Disorders v0.10
TF
Louise Daugherty Added phenotypes Atransferrinemia, 209300 for gene: TF
20 Feb 2020
Severe Paediatric Disorders v0.10
TERT
Louise Daugherty Added phenotypes {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989 for gene: TERT
20 Feb 2020
Severe Paediatric Disorders v0.10
TERC
Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 for gene: TERC
20 Feb 2020
Severe Paediatric Disorders v0.10
TENM3
Louise Daugherty Added phenotypes ?Microphthalmia, isolated, with coloboma 9, 615145; Microphthalmia, syndromic 15, 615145 for gene: TENM3
20 Feb 2020
Severe Paediatric Disorders v0.10
TELO2
Louise Daugherty Added phenotypes You-Hoover-Fong syndrome, 616954 for gene: TELO2
20 Feb 2020
Severe Paediatric Disorders v0.10
TEK
Louise Daugherty Added phenotypes Glaucoma 3, primary congenital, E, 617272; Venous malformations, multiple cutaneous and mucosal, 600195 for gene: TEK
20 Feb 2020
Severe Paediatric Disorders v0.10
TECTA
Louise Daugherty Added phenotypes Deafness, autosomal recessive 21, 603629; Deafness, autosomal dominant 8/12, 601543 for gene: TECTA
20 Feb 2020
Severe Paediatric Disorders v0.10
TECPR2
Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
20 Feb 2020
Severe Paediatric Disorders v0.10
TCTN3
Louise Daugherty Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3
20 Feb 2020
Severe Paediatric Disorders v0.10
TCTN2
Louise Daugherty Added phenotypes Joubert syndrome 24, 616654; ?Meckel syndrome 8, 613885 for gene: TCTN2
20 Feb 2020
Severe Paediatric Disorders v0.10
TCTN1
Louise Daugherty Added phenotypes Joubert syndrome 13, 614173 for gene: TCTN1
20 Feb 2020
Severe Paediatric Disorders v0.10
TCTEX1D2
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 for gene: TCTEX1D2
20 Feb 2020
Severe Paediatric Disorders v0.10
TCOF1
Louise Daugherty Added phenotypes Treacher Collins syndrome 1, 154500 for gene: TCOF1
20 Feb 2020
Severe Paediatric Disorders v0.10
TCN2
Louise Daugherty Added phenotypes Transcobalamin II deficiency, 275350 for gene: TCN2
20 Feb 2020
Severe Paediatric Disorders v0.10
TCIRG1
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 for gene: TCIRG1
20 Feb 2020
Severe Paediatric Disorders v0.10
TCF4
Louise Daugherty Added phenotypes Pitt-Hopkins syndrome, 610954; Corneal dystrophy, Fuchs endothelial, 3, 613267 for gene: TCF4
20 Feb 2020
Severe Paediatric Disorders v0.10
TCF3
Louise Daugherty Added phenotypes Agammaglobulinemia 8, autosomal dominant, 616941 for gene: TCF3
20 Feb 2020
Severe Paediatric Disorders v0.10
TCF20
Louise Daugherty Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities, 618430 for gene: TCF20
20 Feb 2020
Severe Paediatric Disorders v0.10
TCF12
Louise Daugherty Added phenotypes Craniosynostosis 3, 615314 for gene: TCF12
20 Feb 2020
Severe Paediatric Disorders v0.10
TCAP
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 25, 607487; Muscular dystrophy, limb-girdle, autosomal recessive 7, 601954 for gene: TCAP
20 Feb 2020
Severe Paediatric Disorders v0.10
TBXAS1
Louise Daugherty Added phenotypes Ghosal hematodiaphyseal syndrome, 231095 for gene: TBXAS1
20 Feb 2020
Severe Paediatric Disorders v0.10
TBXA2R
Louise Daugherty Added phenotypes {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 for gene: TBXA2R
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX6
Louise Daugherty Added phenotypes Spondylocostal dysostosis 5, 122600 for gene: TBX6
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX5
Louise Daugherty Added phenotypes Holt-Oram syndrome, 142900 for gene: TBX5
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX4
Louise Daugherty Added phenotypes Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, 147891 for gene: TBX4
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX3
Louise Daugherty Added phenotypes Ulnar-mammary syndrome, 181450 for gene: TBX3
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX22
Louise Daugherty Added phenotypes ?Abruzzo-Erickson syndrome, 302905; Cleft palate with ankyloglossia, 303400 for gene: TBX22
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX20
Louise Daugherty Added phenotypes Atrial septal defect 4, 611363 for gene: TBX20
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX18
Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract 2, 143400 for gene: TBX18
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX15
Louise Daugherty Added phenotypes Cousin syndrome, 260660 for gene: TBX15
20 Feb 2020
Severe Paediatric Disorders v0.10
TBX1
Louise Daugherty Added phenotypes DiGeorge syndrome, 188400; Tetralogy of Fallot, 187500; Conotruncal anomaly face syndrome, 217095; Velocardiofacial syndrome, 192430 for gene: TBX1
20 Feb 2020
Severe Paediatric Disorders v0.10
TBR1
Louise Daugherty Added phenotypes Intellectual developmental disorder with autism and speech delay, 606053 for gene: TBR1
20 Feb 2020
Severe Paediatric Disorders v0.10
TBP
Louise Daugherty Added phenotypes Spinocerebellar ataxia 17, 607136 for gene: TBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TBL1XR1
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 41, 616944; Pierpont syndrome, 602342 for gene: TBL1XR1
20 Feb 2020
Severe Paediatric Disorders v0.10
TBK1
Louise Daugherty Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 for gene: TBK1
20 Feb 2020
Severe Paediatric Disorders v0.10
TBCK
Louise Daugherty Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 for gene: TBCK
20 Feb 2020
Severe Paediatric Disorders v0.10
TBCE
Louise Daugherty Added phenotypes Kenny-Caffey syndrome, type 1, 244460; Hypoparathyroidism-retardation-dysmorphism syndrome, 241410; Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 for gene: TBCE
20 Feb 2020
Severe Paediatric Disorders v0.10
TBCD
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 for gene: TBCD
20 Feb 2020
Severe Paediatric Disorders v0.10
TBC1D24
Louise Daugherty Added phenotypes DOORS syndrome, 220500; Deafness , autosomal recessive 86, 614617; Deafness, autosomal dominant 65, 616044; Epileptic encephalopathy, early infantile, 16, 615338; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp, 608105; Myoclonic epilepsy, infantile, familial, 605021 for gene: TBC1D24
20 Feb 2020
Severe Paediatric Disorders v0.10
TBC1D23
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 11, 617695 for gene: TBC1D23
20 Feb 2020
Severe Paediatric Disorders v0.10
TBC1D20
Louise Daugherty Added phenotypes Warburg micro syndrome 4, 615663 for gene: TBC1D20
20 Feb 2020
Severe Paediatric Disorders v0.10
TAZ
Louise Daugherty Added phenotypes Barth syndrome, 302060 for gene: TAZ
20 Feb 2020
Severe Paediatric Disorders v0.10
TAT
Louise Daugherty Added phenotypes Tyrosinemia, type II, 276600 for gene: TAT
20 Feb 2020
Severe Paediatric Disorders v0.10
TARDBP
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Frontotemporal lobar degeneration, TARDBP-related, 612069 for gene: TARDBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TAPT1
Louise Daugherty Added phenotypes Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 for gene: TAPT1
20 Feb 2020
Severe Paediatric Disorders v0.10
TAPBP
Louise Daugherty Added phenotypes Bare lymphocyte syndrome, type I, 604571 for gene: TAPBP
20 Feb 2020
Severe Paediatric Disorders v0.10
TAP2
Louise Daugherty Added phenotypes Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 for gene: TAP2
20 Feb 2020
Severe Paediatric Disorders v0.10
TAP1
Louise Daugherty Added phenotypes Bare lymphocyte syndrome, type I, 604571 for gene: TAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
TANGO2
Louise Daugherty Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 for gene: TANGO2
20 Feb 2020
Severe Paediatric Disorders v0.10
TALDO1
Louise Daugherty Added phenotypes Transaldolase deficiency, 606003 for gene: TALDO1
20 Feb 2020
Severe Paediatric Disorders v0.10
TAF6
Louise Daugherty Added phenotypes Alazami-Yuan syndrome, 617126 for gene: TAF6
20 Feb 2020
Severe Paediatric Disorders v0.10
TAF1
Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 33, 300966; Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
20 Feb 2020
Severe Paediatric Disorders v0.10
TACO1
Louise Daugherty Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: TACO1
20 Feb 2020
Severe Paediatric Disorders v0.10
TAB2
Louise Daugherty Added phenotypes Congenital heart defects, nonsyndromic, 2, 614980 for gene: TAB2
20 Feb 2020
Severe Paediatric Disorders v0.10
SZT2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 18, 615476 for gene: SZT2
20 Feb 2020
Severe Paediatric Disorders v0.10
SYT1
Louise Daugherty Added phenotypes Baker-Gordon syndrome, 618218 for gene: SYT1
20 Feb 2020
Severe Paediatric Disorders v0.10
SYP
Louise Daugherty Added phenotypes Mental retardation, X-linked 96, 300802 for gene: SYP
20 Feb 2020
Severe Paediatric Disorders v0.10
SYNJ1
Louise Daugherty Added phenotypes Parkinson disease 20, early-onset, 615530; Epileptic encephalopathy, early infantile, 53, 617389 for gene: SYNJ1
20 Feb 2020
Severe Paediatric Disorders v0.10
SYNGAP1
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 5, 612621 for gene: SYNGAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
SYNE1
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 8, 610743; Arthrogryposis multiplex congenita, myogenic type, 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 for gene: SYNE1
20 Feb 2020
Severe Paediatric Disorders v0.10
SYN1
Louise Daugherty Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 for gene: SYN1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUZ12
Louise Daugherty Added phenotypes Weaver-like overgrowth syndrome for gene: SUZ12
20 Feb 2020
Severe Paediatric Disorders v0.10
SURF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4K, 616684; Leigh syndrome, due to COX IV deficiency, 256000 for gene: SURF1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUOX
Louise Daugherty Added phenotypes Sulfite oxidase deficiency, 272300 for gene: SUOX
20 Feb 2020
Severe Paediatric Disorders v0.10
SUMF1
Louise Daugherty Added phenotypes Multiple sulfatase deficiency, 272200 for gene: SUMF1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUCLG1
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 for gene: SUCLG1
20 Feb 2020
Severe Paediatric Disorders v0.10
SUCLA2
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 for gene: SUCLA2
20 Feb 2020
Severe Paediatric Disorders v0.10
STXBP2
Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, 613101 for gene: STXBP2
20 Feb 2020
Severe Paediatric Disorders v0.10
STXBP1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 4, 612164 for gene: STXBP1
20 Feb 2020
Severe Paediatric Disorders v0.10
STX1B
Louise Daugherty Added phenotypes Generalized epilepsy with febrile seizures plus, type 9, 616172 for gene: STX1B
20 Feb 2020
Severe Paediatric Disorders v0.10
STX11
Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 4, 603552 for gene: STX11
20 Feb 2020
Severe Paediatric Disorders v0.10
STUB1
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 16, 615768; ?Spinocerebellar ataxia 48, 618093 for gene: STUB1
20 Feb 2020
Severe Paediatric Disorders v0.10
STS
Louise Daugherty Added phenotypes Ichthyosis, X-linked, 308100 for gene: STS
20 Feb 2020
Severe Paediatric Disorders v0.10
STRC
Louise Daugherty Added phenotypes Deafness, autosomal recessive 16, 603720 for gene: STRC
20 Feb 2020
Severe Paediatric Disorders v0.10
STRADA
Louise Daugherty Added phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 for gene: STRADA
20 Feb 2020
Severe Paediatric Disorders v0.10
STRA6
Louise Daugherty Added phenotypes Microphthalmia, isolated, with coloboma 8, 601186; Microphthalmia, syndromic 9, 601186 for gene: STRA6
20 Feb 2020
Severe Paediatric Disorders v0.10
STK4
Louise Daugherty Added phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 for gene: STK4
20 Feb 2020
Severe Paediatric Disorders v0.10
STK11
Louise Daugherty Added phenotypes Peutz-Jeghers syndrome, 175200 for gene: STK11
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM173
Louise Daugherty Added phenotypes STING-associated vasculopathy, infantile-onset, 615934 for gene: TMEM173
20 Feb 2020
Severe Paediatric Disorders v0.10
STIM1
Louise Daugherty Added phenotypes Immunodeficiency 10, 612783; Stormorken syndrome, 185070; Myopathy, tubular aggregate, 1, 160565 for gene: STIM1
20 Feb 2020
Severe Paediatric Disorders v0.10
STIL
Louise Daugherty Added phenotypes Microcephaly 7, primary, autosomal recessive, 612703 for gene: STIL
20 Feb 2020
Severe Paediatric Disorders v0.10
STAT5B
Louise Daugherty Added phenotypes Growth hormone insensitivity with immunodeficiency, 245590 for gene: STAT5B
20 Feb 2020
Severe Paediatric Disorders v0.10
STAT3
Louise Daugherty Added phenotypes Hyper-IgE recurrent infection syndrome, 147060; Autoimmune disease, multisystem, infantile-onset, 1, 615952 for gene: STAT3
20 Feb 2020
Severe Paediatric Disorders v0.10
STAT2
Louise Daugherty Added phenotypes Immunodeficiency 44, 616636 for gene: STAT2
20 Feb 2020
Severe Paediatric Disorders v0.10
STAT1
Louise Daugherty Added phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796; Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892; Immunodeficiency 31C, autosomal dominant, 614162 for gene: STAT1
20 Feb 2020
Severe Paediatric Disorders v0.10
STAR
Louise Daugherty Added phenotypes Lipoid adrenal hyperplasia, 201710 for gene: STAR
20 Feb 2020
Severe Paediatric Disorders v0.10
STAMBP
Louise Daugherty Added phenotypes Microcephaly-capillary malformation syndrome, 614261 for gene: STAMBP
20 Feb 2020
Severe Paediatric Disorders v0.10
STAG2
Louise Daugherty Added phenotypes Mullegama-Klein-Martinez syndrome, 301022 for gene: STAG2
20 Feb 2020
Severe Paediatric Disorders v0.10
STAG1
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 47, 617635 for gene: STAG1
20 Feb 2020
Severe Paediatric Disorders v0.10
STAC3
Louise Daugherty Added phenotypes Myopathy, congenital, Baily-Bloch, 255995 for gene: STAC3
20 Feb 2020
Severe Paediatric Disorders v0.10
ST3GAL5
Louise Daugherty Added phenotypes Salt and pepper developmental regression syndrome, 609056 for gene: ST3GAL5
20 Feb 2020
Severe Paediatric Disorders v0.10
ST3GAL3
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 12, 611090; ?Epileptic encephalopathy, early infantile, 15, 615006 for gene: ST3GAL3
20 Feb 2020
Severe Paediatric Disorders v0.10
SSR4
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Iy, 300934 for gene: SSR4
20 Feb 2020
Severe Paediatric Disorders v0.10
SRY
Louise Daugherty Added phenotypes 46XX sex reversal 1, 400045; 46XY sex reversal 1, 400044 for gene: SRY
20 Feb 2020
Severe Paediatric Disorders v0.10
SRD5A3
Louise Daugherty Added phenotypes Kahrizi syndrome, 612713; Congenital disorder of glycosylation, type Iq, 612379 for gene: SRD5A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SRD5A2
Louise Daugherty Added phenotypes Pseudovaginal perineoscrotal hypospadias, 264600 for gene: SRD5A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SRCAP
Louise Daugherty Added phenotypes Floating-Harbor syndrome, 136140 for gene: SRCAP
20 Feb 2020
Severe Paediatric Disorders v0.10
SRC
Louise Daugherty Added phenotypes Colon cancer, advanced, somatic, 114500; ?Thrombocytopenia 6, 616937 for gene: SRC
20 Feb 2020
Severe Paediatric Disorders v0.10
SQSTM1
Louise Daugherty Added phenotypes Paget disease of bone 3, 167250; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145; Myopathy, distal, with rimmed vacuoles, 617158; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 for gene: SQSTM1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTLC2
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IC, 613640 for gene: SPTLC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTLC1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IA, 162400 for gene: SPTLC1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTBN4
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 for gene: SPTBN4
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTBN2
Louise Daugherty Added phenotypes Spinocerebellar ataxia 5, 600224; Spinocerebellar ataxia, autosomal recessive 14, 615386 for gene: SPTBN2
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTB
Louise Daugherty Added phenotypes Spherocytosis, type 2, 616649; Anemia, neonatal hemolytic, fatal or near-fatal, 617948; Elliptocytosis-3, 617948 for gene: SPTB
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTAN1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 5, 613477 for gene: SPTAN1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPTA1
Louise Daugherty Added phenotypes Elliptocytosis-2, 130600; Spherocytosis, type 3, 270970; Pyropoikilocytosis, 266140 for gene: SPTA1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPRED1
Louise Daugherty Added phenotypes Legius syndrome, 611431 for gene: SPRED1
20 Feb 2020
Severe Paediatric Disorders v0.10
SPR
Louise Daugherty Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 for gene: SPR
20 Feb 2020
Severe Paediatric Disorders v0.10
SPPL2A
Louise Daugherty Added phenotypes Defects with susceptibility to mycobacterial infection (MSMD); Susceptibility to mycobacteria; Defects in Intrinsic and Innate Immunity for gene: SPPL2A
20 Feb 2020
Severe Paediatric Disorders v0.10
SPINK5
Louise Daugherty Added phenotypes Netherton syndrome, 256500 for gene: SPINK5
20 Feb 2020
Severe Paediatric Disorders v0.10
SPG7
Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
20 Feb 2020
Severe Paediatric Disorders v0.10
SPG21
Louise Daugherty Added phenotypes Mast syndrome, 248900 for gene: SPG21
20 Feb 2020
Severe Paediatric Disorders v0.10
SPG11
Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Amyotrophic lateral sclerosis 5, juvenile, 602099 for gene: SPG11
20 Feb 2020
Severe Paediatric Disorders v0.10
SPEG
Louise Daugherty Added phenotypes Centronuclear myopathy 5, 615959 for gene: SPEG
20 Feb 2020
Severe Paediatric Disorders v0.10
SPECC1L
Louise Daugherty Added phenotypes Opitz GBBB syndrome, type II, 145410; ?Facial clefting, oblique, 1, 600251; Hypertelorism, Teebi type, 145420 for gene: SPECC1L
20 Feb 2020
Severe Paediatric Disorders v0.10
SPATA5
Louise Daugherty Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 for gene: SPATA5
20 Feb 2020
Severe Paediatric Disorders v0.10
SPAST
Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
20 Feb 2020
Severe Paediatric Disorders v0.10
SPART
Louise Daugherty Added phenotypes Troyer syndrome, 275900 for gene: SPART
20 Feb 2020
Severe Paediatric Disorders v0.10
SPAG1
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 28, 615505 for gene: SPAG1
20 Feb 2020
Severe Paediatric Disorders v0.10
SP110
Louise Daugherty Added phenotypes Hepatic venoocclusive disease with immunodeficiency, 235550 for gene: SP110
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX9
Louise Daugherty Added phenotypes Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; Campomelic dysplasia with autosomal sex reversal, 114290 for gene: SOX9
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX5
Louise Daugherty Added phenotypes Lamb-Shaffer syndrome, 616803 for gene: SOX5
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX4
Louise Daugherty Added phenotypes Coffin-Siris syndrome 10, 618506 for gene: SOX4
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX3
Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 3, 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 for gene: SOX2
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX17
Louise Daugherty Added phenotypes Vesicoureteral reflux 3, 613674 for gene: SOX17
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX11
Louise Daugherty Added phenotypes Coffin-Siris syndrome 9, 615866 for gene: SOX11
20 Feb 2020
Severe Paediatric Disorders v0.10
SOX10
Louise Daugherty Added phenotypes PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584; Waardenburg syndrome, type 4C, 613266 for gene: SOX10
20 Feb 2020
Severe Paediatric Disorders v0.10
SOST
Louise Daugherty Added phenotypes Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; Van Buchem disease, 239100 for gene: SOST
20 Feb 2020
Severe Paediatric Disorders v0.10
SOS2
Louise Daugherty Added phenotypes Noonan syndrome 9, 616559 for gene: SOS2
20 Feb 2020
Severe Paediatric Disorders v0.10
SOS1
Louise Daugherty Added phenotypes Noonan syndrome 4, 610733 for gene: SOS1
20 Feb 2020
Severe Paediatric Disorders v0.10
SON
Louise Daugherty Added phenotypes ZTTK syndrome, 617140 for gene: SON
20 Feb 2020
Severe Paediatric Disorders v0.10
SNX14
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14
20 Feb 2020
Severe Paediatric Disorders v0.10
SNX10
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 8, 615085 for gene: SNX10
20 Feb 2020
Severe Paediatric Disorders v0.10
SNRPB
Louise Daugherty Added phenotypes Cerebrocostomandibular syndrome, 117650 for gene: SNRPB
20 Feb 2020
Severe Paediatric Disorders v0.10
SNORD118
Louise Daugherty Added phenotypes Leukoencephalopathy, brain calcifications, and cysts, 614561 for gene: SNORD118
20 Feb 2020
Severe Paediatric Disorders v0.10
SNCA
Louise Daugherty Added phenotypes Parkinson disease 1, 168601; Dementia, Lewy body, 127750; Parkinson disease 4, 605543 for gene: SNCA
20 Feb 2020
Severe Paediatric Disorders v0.10
SNAP29
Louise Daugherty Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 for gene: SNAP29
20 Feb 2020
Severe Paediatric Disorders v0.10
SMS
Louise Daugherty Added phenotypes Mental retardation, X-linked, Snyder-Robinson type, 309583 for gene: SMS
20 Feb 2020
Severe Paediatric Disorders v0.10
SMPX
Louise Daugherty Added phenotypes Deafness, X-linked 4, 300066 for gene: SMPX
20 Feb 2020
Severe Paediatric Disorders v0.10
SMPD1
Louise Daugherty Added phenotypes Niemann-Pick disease, type B, 607616; Niemann-Pick disease, type A, 257200 for gene: SMPD1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMOC1
Louise Daugherty Added phenotypes Microphthalmia with limb anomalies, 206920 for gene: SMOC1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMN1
Louise Daugherty Added phenotypes Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-1, 253300 for gene: SMN1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMCHD1
Louise Daugherty Added phenotypes Bosma arhinia microphthalmia syndrome, 603457; Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 for gene: SMCHD1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMC3
Louise Daugherty Added phenotypes Cornelia de Lange syndrome 3, 610759 for gene: SMC3
20 Feb 2020
Severe Paediatric Disorders v0.10
SMC1A
Louise Daugherty Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCE1
Louise Daugherty Added phenotypes Coffin-Siris syndrome 5, 616938 for gene: SMARCE1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCD1
Louise Daugherty Added phenotypes Abnormality of the foot; Global developmental delay; Generalized hypotonia; Feeding difficulties; Intellectual disability; Abnormality of the hand for gene: SMARCD1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCC2
Louise Daugherty Added phenotypes Coffin-Siris syndrome 8, 618362 for gene: SMARCC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCB1
Louise Daugherty Added phenotypes Coffin-Siris syndrome 3, 614608; Rhabdoid tumors, somatic, 609322 for gene: SMARCB1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCAL1
Louise Daugherty Added phenotypes Schimke immunoosseous dysplasia, 242900 for gene: SMARCAL1
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCA4
Louise Daugherty Added phenotypes Coffin-Siris syndrome 4, 614609 for gene: SMARCA4
20 Feb 2020
Severe Paediatric Disorders v0.10
SMARCA2
Louise Daugherty Added phenotypes Nicolaides-Baraitser syndrome, 601358 for gene: SMARCA2
20 Feb 2020
Severe Paediatric Disorders v0.10
SMAD4
Louise Daugherty Added phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050; Polyposis, juvenile intestinal, 174900; Myhre syndrome, 139210 for gene: SMAD4
20 Feb 2020
Severe Paediatric Disorders v0.10
SMAD3
Louise Daugherty Added phenotypes Loeys-Dietz syndrome 3, 613795 for gene: SMAD3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLX4
Louise Daugherty Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLFN14
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 20, 616913 for gene: SLFN14
20 Feb 2020
Severe Paediatric Disorders v0.10
SLCO2A1
Louise Daugherty Added phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 for gene: SLCO2A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC9A6
Louise Daugherty Added phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 for gene: SLC9A6
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC7A9
Louise Daugherty Added phenotypes Cystinuria, 220100 for gene: SLC7A9
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC7A7
Louise Daugherty Added phenotypes Lysinuric protein intolerance, 222700 for gene: SLC7A7
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A9
Louise Daugherty Added phenotypes Glycine encephalopathy with normal serum glycine, 617301 for gene: SLC6A9
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A8
Louise Daugherty Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 for gene: SLC6A8
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A5
Louise Daugherty Added phenotypes Hyperekplexia 3, 614618 for gene: SLC6A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A3
Louise Daugherty Added phenotypes Parkinsonism-dystonia, infantile, 1, 613135 for gene: SLC6A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A20
Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500 for gene: SLC6A20
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A19
Louise Daugherty Added phenotypes Iminoglycinuria, digenic, 242600; Hyperglycinuria, 138500; Hartnup disorder, 234500 for gene: SLC6A19
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A17
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 48, 616269 for gene: SLC6A17
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC6A1
Louise Daugherty Added phenotypes Myoclonic-atonic epilepsy, 616421 for gene: SLC6A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC5A7
Louise Daugherty Added phenotypes Neuronopathy, distal hereditary motor, type VIIA, 158580; Myasthenic syndrome, congenital, 20, presynaptic, 617143 for gene: SLC5A7
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC5A5
Louise Daugherty Added phenotypes Thyroid dyshormonogenesis 1, 274400 for gene: SLC5A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC5A2
Louise Daugherty Added phenotypes Renal glucosuria, 233100 for gene: SLC5A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC5A1
Louise Daugherty Added phenotypes Glucose/galactose malabsorption, 606824 for gene: SLC5A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC52A3
Louise Daugherty Added phenotypes ?Fazio-Londe disease, 211500; Brown-Vialetto-Van Laere syndrome 1, 211530 for gene: SLC52A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC52A2
Louise Daugherty Added phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 for gene: SLC52A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC4A4
Louise Daugherty Added phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 for gene: SLC4A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC4A11
Louise Daugherty Added phenotypes Corneal dystrophy, Fuchs endothelial, 4, 613268; Corneal endothelial dystrophy, autosomal recessive, 217700; Corneal endothelial dystrophy and perceptive deafness, 217400 for gene: SLC4A11
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC4A1
Louise Daugherty Added phenotypes Renal tubular acidosis, distal, AR, 611590; Cryohydrocytosis, 185020; Spherocytosis, type 4, 612653; Ovalocytosis, SA type, 166900; Renal tubular acidosis, distal, AD, 179800 for gene: SLC4A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC46A1
Louise Daugherty Added phenotypes Folate malabsorption, hereditary, 229050 for gene: SLC46A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC45A2
Louise Daugherty Added phenotypes Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC40A1
Louise Daugherty Added phenotypes Hemochromatosis, type 4, 606069 for gene: SLC40A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC3A1
Louise Daugherty Added phenotypes Cystinuria, 220100 for gene: SLC3A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC39A8
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIn, 616721 for gene: SLC39A8
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC39A4
Louise Daugherty Added phenotypes Acrodermatitis enteropathica, 201100 for gene: SLC39A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC39A14
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC39A13
Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 for gene: SLC39A13
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC37A4
Louise Daugherty Added phenotypes Glycogen storage disease Ib, 232220; Glycogen storage disease Ic, 232240 for gene: SLC37A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC35D1
Louise Daugherty Added phenotypes Schneckenbecken dysplasia, 269250 for gene: SLC35D1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC35C1
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIc, 266265 for gene: SLC35C1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC35A2
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIm, 300896 for gene: SLC35A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC35A1
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIf, 603585 for gene: SLC35A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC34A3
Louise Daugherty Added phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 for gene: SLC34A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC34A2
Louise Daugherty Added phenotypes Pulmonary alveolar microlithiasis, 265100 for gene: SLC34A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC33A1
Louise Daugherty Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482; Spastic paraplegia 42, autosomal dominant, 612539 for gene: SLC33A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC30A10
Louise Daugherty Added phenotypes Hypermanganesemia with dystonia 1, 613280 for gene: SLC30A10
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC2A2
Louise Daugherty Added phenotypes Fanconi-Bickel syndrome, 227810 for gene: SLC2A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC2A10
Louise Daugherty Added phenotypes Arterial tortuosity syndrome, 208050 for gene: SLC2A10
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC2A1
Louise Daugherty Added phenotypes Stomatin-deficient cryohydrocytosis with neurologic defects, 608885; {Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847; Dystonia 9, 601042; GLUT1 deficiency syndrome 2, childhood onset, 612126; GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 for gene: SLC2A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC29A3
Louise Daugherty Added phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 for gene: SLC29A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC27A4
Louise Daugherty Added phenotypes Ichthyosis prematurity syndrome, 608649 for gene: SLC27A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC26A4
Louise Daugherty Added phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791; Pendred syndrome, 274600 for gene: SLC26A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC26A3
Louise Daugherty Added phenotypes Diarrhea 1, secretory chloride, congenital, 214700 for gene: SLC26A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC26A2
Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A46
Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A42
Louise Daugherty Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416 for gene: SLC25A42
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A4
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 for gene: SLC25A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A38
Louise Daugherty Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 for gene: SLC25A38
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A3
Louise Daugherty Added phenotypes Mitochondrial phosphate carrier deficiency, 610773 for gene: SLC25A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A26
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 28, 616794 for gene: SLC25A26
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A24
Louise Daugherty Added phenotypes Fontaine progeroid syndrome, 612289 for gene: SLC25A24
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A22
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 3, 609304 for gene: SLC25A22
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A20
Louise Daugherty Added phenotypes Carnitine-acylcarnitine translocase deficiency, 212138 for gene: SLC25A20
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A19
Louise Daugherty Added phenotypes Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 for gene: SLC25A19
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A15
Louise Daugherty Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 for gene: SLC25A15
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A13
Louise Daugherty Added phenotypes Citrullinemia, adult-onset type II, 603471; Citrullinemia, type II, neonatal-onset, 605814 for gene: SLC25A13
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A12
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 39, 612949 for gene: SLC25A12
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC25A1
Louise Daugherty Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197 for gene: SLC25A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC22A5
Louise Daugherty Added phenotypes Carnitine deficiency, systemic primary, 212140 for gene: SLC22A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC20A2
Louise Daugherty Added phenotypes Basal ganglia calcification, idiopathic, 1, 213600 for gene: SLC20A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC1A4
Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC1A3
Louise Daugherty Added phenotypes Episodic ataxia, type 6, 612656 for gene: SLC1A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC1A2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 41, 617105 for gene: SLC1A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC19A3
Louise Daugherty Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 for gene: SLC19A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC19A2
Louise Daugherty Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 for gene: SLC19A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC18A3
Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 for gene: SLC18A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC17A5
Louise Daugherty Added phenotypes Sialic acid storage disorder, infantile, 269920; Salla disease, 604369 for gene: SLC17A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC16A2
Louise Daugherty Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC16A1
Louise Daugherty Added phenotypes Erythrocyte lactate transporter defect, 245340; Hyperinsulinemic hypoglycemia, familial, 7, 610021; Monocarboxylate transporter 1 deficiency, 616095 for gene: SLC16A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC13A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 25, 615905 for gene: SLC13A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC12A6
Louise Daugherty Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 for gene: SLC12A6
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC12A5
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 34, 616645 for gene: SLC12A5
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC12A3
Louise Daugherty Added phenotypes Gitelman syndrome, 263800 for gene: SLC12A3
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC12A1
Louise Daugherty Added phenotypes Bartter syndrome, type 1, 601678 for gene: SLC12A1
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC11A2
Louise Daugherty Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
20 Feb 2020
Severe Paediatric Disorders v0.10
SLC10A7
Louise Daugherty Added phenotypes Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, 618363 for gene: SLC10A7
20 Feb 2020
Severe Paediatric Disorders v0.10
SKIV2L
Louise Daugherty Added phenotypes Trichohepatoenteric syndrome 2, 614602 for gene: SKIV2L
20 Feb 2020
Severe Paediatric Disorders v0.10
SKI
Louise Daugherty Added phenotypes Shprintzen-Goldberg syndrome, 182212 for gene: SKI
20 Feb 2020
Severe Paediatric Disorders v0.10
SIX5
Louise Daugherty Added phenotypes Branchiootorenal syndrome 2, 610896 for gene: SIX5
20 Feb 2020
Severe Paediatric Disorders v0.10
SIX3
Louise Daugherty Added phenotypes Holoprosencephaly 2, 157170; Schizencephaly, 269160 for gene: SIX3
20 Feb 2020
Severe Paediatric Disorders v0.10
SIX1
Louise Daugherty Added phenotypes Branchiootic syndrome 3, 608389; Deafness, autosomal dominant 23, 605192 for gene: SIX1
20 Feb 2020
Severe Paediatric Disorders v0.10
SIN3A
Louise Daugherty Added phenotypes Witteveen-Kolk syndrome, 613406 for gene: SIN3A
20 Feb 2020
Severe Paediatric Disorders v0.10
SIL1
Louise Daugherty Added phenotypes Marinesco-Sjogren syndrome, 248800 for gene: SIL1
20 Feb 2020
Severe Paediatric Disorders v0.10
SIK1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 30, 616341 for gene: SIK1
20 Feb 2020
Severe Paediatric Disorders v0.10
SI
Louise Daugherty Added phenotypes Sucrase-isomaltase deficiency, congenital, 222900 for gene: SI
20 Feb 2020
Severe Paediatric Disorders v0.10
SHOX
Louise Daugherty Added phenotypes Leri-Weill dyschondrosteosis, 127300; Short stature, idiopathic familial, 300582; Langer mesomelic dysplasia, 249700 for gene: SHOX
20 Feb 2020
Severe Paediatric Disorders v0.10
SHOC2
Louise Daugherty Added phenotypes Noonan syndrome-like with loose anagen hair, 607721 for gene: SHOC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SHH
Louise Daugherty Added phenotypes Single median maxillary central incisor, 147250; Holoprosencephaly 3, 142945; Microphthalmia with coloboma 5, 611638; Schizencephaly, 269160 for gene: SHH
20 Feb 2020
Severe Paediatric Disorders v0.10
SHANK3
Louise Daugherty Added phenotypes Phelan-McDermid syndrome, 606232 for gene: SHANK3
20 Feb 2020
Severe Paediatric Disorders v0.10
SHANK2
Louise Daugherty Added phenotypes {Autism susceptibility 17}, 613436 for gene: SHANK2
20 Feb 2020
Severe Paediatric Disorders v0.10
SH3TC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4C, 601596; Mononeuropathy of the median nerve, mild, 613353 for gene: SH3TC2
20 Feb 2020
Severe Paediatric Disorders v0.10
SH3PXD2B
Louise Daugherty Added phenotypes Frank-ter Haar syndrome, 249420 for gene: SH3PXD2B
20 Feb 2020
Severe Paediatric Disorders v0.10
SH3BP2
Louise Daugherty Added phenotypes Cherubism, 118400 for gene: SH3BP2
20 Feb 2020
Severe Paediatric Disorders v0.10
SH2D1A
Louise Daugherty Added phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 for gene: SH2D1A
20 Feb 2020
Severe Paediatric Disorders v0.10
SGSH
Louise Daugherty Added phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 for gene: SGSH
20 Feb 2020
Severe Paediatric Disorders v0.10
SGPL1
Louise Daugherty Added phenotypes Nephrotic syndrome, type 14, 617575 for gene: SGPL1
20 Feb 2020
Severe Paediatric Disorders v0.10
SGCG
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5, 253700 for gene: SGCG
20 Feb 2020
Severe Paediatric Disorders v0.10
SGCE
Louise Daugherty Added phenotypes Dystonia-11, myoclonic, 159900 for gene: SGCE
20 Feb 2020
Severe Paediatric Disorders v0.10
SGCD
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1L, 606685; Muscular dystrophy, limb-girdle, autosomal recessive 6, 601287 for gene: SGCD
20 Feb 2020
Severe Paediatric Disorders v0.10
SGCB
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4, 604286 for gene: SGCB
20 Feb 2020
Severe Paediatric Disorders v0.10
SGCA
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3, 608099 for gene: SGCA
20 Feb 2020
Severe Paediatric Disorders v0.10
SFXN4
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
20 Feb 2020
Severe Paediatric Disorders v0.10
SFTPB
Louise Daugherty Added phenotypes Surfactant metabolism dysfunction, pulmonary, 1, 265120 for gene: SFTPB
20 Feb 2020
Severe Paediatric Disorders v0.10
SFRP4
Louise Daugherty Added phenotypes Pyle disease, 265900 for gene: SFRP4
20 Feb 2020
Severe Paediatric Disorders v0.10
SF3B4
Louise Daugherty Added phenotypes Acrofacial dysostosis 1, Nager type, 154400 for gene: SF3B4
20 Feb 2020
Severe Paediatric Disorders v0.10
SETX
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Amyotrophic lateral sclerosis 4, juvenile, 602433 for gene: SETX
20 Feb 2020
Severe Paediatric Disorders v0.10
SETD5
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 23, 615761 for gene: SETD5
20 Feb 2020
Severe Paediatric Disorders v0.10
SETD2
Louise Daugherty Added phenotypes Luscan-Lumish syndrome, 616831 for gene: SETD2
20 Feb 2020
Severe Paediatric Disorders v0.10
SETD1B
Louise Daugherty Added phenotypes Epilepsy, developmental delay, intellectual disability, autistic behavior and craniofacial dysmorphic features for gene: SETD1B
20 Feb 2020
Severe Paediatric Disorders v0.10
SETBP1
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 29, 616078; Schinzel-Giedion midface retraction syndrome, 269150 for gene: SETBP1
20 Feb 2020
Severe Paediatric Disorders v0.10
SET
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 58, 618106 for gene: SET
20 Feb 2020
Severe Paediatric Disorders v0.10
SERPINH1
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type X, 613848 for gene: SERPINH1
20 Feb 2020
Severe Paediatric Disorders v0.10
SERPING1
Louise Daugherty Added phenotypes Complement component 4, partial deficiency of, 120790; Angioedema, hereditary, types I and II, 106100 for gene: SERPING1
20 Feb 2020
Severe Paediatric Disorders v0.10
SERPINF2
Louise Daugherty Added phenotypes Alpha-2-plasmin inhibitor deficiency, 262850 for gene: SERPINF2
20 Feb 2020
Severe Paediatric Disorders v0.10
SERPINF1
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VI, 613982 for gene: SERPINF1
20 Feb 2020
Severe Paediatric Disorders v0.10
SERPINE1
Louise Daugherty Added phenotypes Plasminogen activator inhibitor-1 deficiency, 613329 for gene: SERPINE1
20 Feb 2020
Severe Paediatric Disorders v0.10
SERAC1
Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
20 Feb 2020
Severe Paediatric Disorders v0.10
SEPT9
Louise Daugherty Added phenotypes Ovarian carcinoma; Amyotrophy, hereditary neuralgic, 162100; Leukemia, acute myeloid, therapy-related for gene: SEPT9
20 Feb 2020
Severe Paediatric Disorders v0.10
SEPSECS
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 for gene: SEPSECS
20 Feb 2020
Severe Paediatric Disorders v0.10
SELENON
Louise Daugherty Added phenotypes Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion, 255310 for gene: SELENON
20 Feb 2020
Severe Paediatric Disorders v0.10
SEC24D
Louise Daugherty Added phenotypes Cole-Carpenter syndrome 2, 616294 for gene: SEC24D
20 Feb 2020
Severe Paediatric Disorders v0.10
SEC23B
Louise Daugherty Added phenotypes ?Cowden syndrome 7, 616858; Dyserythropoietic anemia, congenital, type II, 224100 for gene: SEC23B
20 Feb 2020
Severe Paediatric Disorders v0.10
SDHD
Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011; Paragangliomas 1, with or without deafness, 168000; Paraganglioma and gastric stromal sarcoma, 606864; Pheochromocytoma, 171300 for gene: SDHD
20 Feb 2020
Severe Paediatric Disorders v0.10
SDHB
Louise Daugherty Added phenotypes Paraganglioma and gastric stromal sarcoma, 606864; Gastrointestinal stromal tumor, 606764; Paragangliomas 4, 115310; Pheochromocytoma, 171300 for gene: SDHB
20 Feb 2020
Severe Paediatric Disorders v0.10
SDHAF1
Louise Daugherty Added phenotypes Mitochondrial complex II deficiency, 252011 for gene: SDHAF1
20 Feb 2020
Severe Paediatric Disorders v0.10
SDHA
Louise Daugherty Added phenotypes Paragangliomas 5, 614165; Leigh syndrome, 256000; Mitochondrial respiratory chain complex II deficiency, 252011; Cardiomyopathy, dilated, 1GG, 613642 for gene: SDHA
20 Feb 2020
Severe Paediatric Disorders v0.10
SDCCAG8
Louise Daugherty Added phenotypes Senior-Loken syndrome 7, 613615; Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
20 Feb 2020
Severe Paediatric Disorders v0.10
SCO2
Louise Daugherty Added phenotypes Myopia 6, 608908; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 for gene: SCO2
20 Feb 2020
Severe Paediatric Disorders v0.10
SCO1
Louise Daugherty Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: SCO1
20 Feb 2020
Severe Paediatric Disorders v0.10
SCNN1B
Louise Daugherty Added phenotypes Liddle syndrome 1, 177200; Bronchiectasis with or without elevated sweat chloride 1, 211400; Pseudohypoaldosteronism, type I, 264350 for gene: SCNN1B
20 Feb 2020
Severe Paediatric Disorders v0.10
SCNN1A
Louise Daugherty Added phenotypes Pseudohypoaldosteronism, type I, 264350; ?Liddle syndrome 3, 618126; Bronchiectasis with or without elevated sweat chloride 2, 613021 for gene: SCNN1A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN9A
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, 243000; Febrile seizures, familial, 3B, 613863; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Paroxysmal extreme pain disorder, 167400; Small fiber neuropathy, 133020; HSAN2D, autosomal recessive, 243000; Erythermalgia, primary, 133020 for gene: SCN9A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN8A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 13, 614558; ?Myoclonus, familial, 2, 618364; Seizures, benign familial infantile, 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN4A
Louise Daugherty Added phenotypes Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, congenital, 16, 614198; Myotonia congenita, atypical, acetazolamide-responsive, 608390; Hypokalemic periodic paralysis, type 2, 613345; Paramyotonia congenita, 168300 for gene: SCN4A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN3A
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 4, 617935; Epileptic encephalopathy, early infantile, 62, 617938 for gene: SCN3A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN2A
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 11, 613721; Seizures, benign familial infantile, 3, 607745 for gene: SCN2A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN1B
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 1, 604233; Cardiac conduction defect, nonspecific, 612838; Epileptic encephalopathy, early infantile, 52, 617350; Atrial fibrillation, familial, 13, 615377; Brugada syndrome 5, 612838 for gene: SCN1B
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN1A
Louise Daugherty Added phenotypes Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Febrile seizures, familial, 3A, 604403; Migraine, familial hemiplegic, 3, 609634; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208 for gene: SCN1A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCN11A
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552 for gene: SCN11A
20 Feb 2020
Severe Paediatric Disorders v0.10
SCLT1
Louise Daugherty Added phenotypes Oro-facio-digital syndrome type IX for gene: SCLT1
20 Feb 2020
Severe Paediatric Disorders v0.10
SCARF2
Louise Daugherty Added phenotypes Van den Ende-Gupta syndrome, 600920 for gene: SCARF2
20 Feb 2020
Severe Paediatric Disorders v0.10
SCARB2
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 for gene: SCARB2
20 Feb 2020
Severe Paediatric Disorders v0.10
SCAPER
Louise Daugherty Added phenotypes Intellectual developmental disorder and retinitis pigmentosa, 618195 for gene: SCAPER
20 Feb 2020
Severe Paediatric Disorders v0.10
SC5D
Louise Daugherty Added phenotypes Lathosterolosis, 607330 for gene: SC5D
20 Feb 2020
Severe Paediatric Disorders v0.10
SBF2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B2, 604563 for gene: SBF2
20 Feb 2020
Severe Paediatric Disorders v0.10
SBF1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B3, 615284 for gene: SBF1
20 Feb 2020
Severe Paediatric Disorders v0.10
SBDS
Louise Daugherty Added phenotypes Shwachman-Diamond syndrome, 260400 for gene: SBDS
20 Feb 2020
Severe Paediatric Disorders v0.10
SATB2
Louise Daugherty Added phenotypes Glass syndrome, 612313 for gene: SATB2
20 Feb 2020
Severe Paediatric Disorders v0.10
SARS2
Louise Daugherty Added phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 for gene: SARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
SAR1B
Louise Daugherty Added phenotypes Chylomicron retention disease, 246700 for gene: SAR1B
20 Feb 2020
Severe Paediatric Disorders v0.10
SAMHD1
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 5, 612952; ?Chilblain lupus 2, 614415 for gene: SAMHD1
20 Feb 2020
Severe Paediatric Disorders v0.10
SAMD9L
Louise Daugherty Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
20 Feb 2020
Severe Paediatric Disorders v0.10
SAMD9
Louise Daugherty Added phenotypes Tumoral calcinosis, familial, normophosphatemic, 610455; MIRAGE syndrome, 617053 for gene: SAMD9
20 Feb 2020
Severe Paediatric Disorders v0.10
SAMD12
Louise Daugherty Added phenotypes Epilepsy, familial adult myoclonic, 1, 601068 for gene: SAMD12
20 Feb 2020
Severe Paediatric Disorders v0.10
SALL4
Louise Daugherty Added phenotypes IVIC syndrome, 147750; Duane-radial ray syndrome, 607323 for gene: SALL4
20 Feb 2020
Severe Paediatric Disorders v0.10
SALL1
Louise Daugherty Added phenotypes Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome 1, 107480 for gene: SALL1
20 Feb 2020
Severe Paediatric Disorders v0.10
SACS
Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
20 Feb 2020
Severe Paediatric Disorders v0.10
RYR2
Louise Daugherty Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Arrhythmogenic right ventricular dysplasia 2, 600996 for gene: RYR2
20 Feb 2020
Severe Paediatric Disorders v0.10
RYR1
Louise Daugherty Added phenotypes Central core disease, 117000; King-Denborough syndrome, 145600; Minicore myopathy with external ophthalmoplegia, 255320; Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 for gene: RYR1
20 Feb 2020
Severe Paediatric Disorders v0.10
TMEM5
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 for gene: TMEM5
20 Feb 2020
Severe Paediatric Disorders v0.10
RUNX2
Louise Daugherty Added phenotypes Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510; Cleidocranial dysplasia, 119600; Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600; Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 for gene: RUNX2
20 Feb 2020
Severe Paediatric Disorders v0.10
RUNX1
Louise Daugherty Added phenotypes Leukemia, acute myeloid, 601626; Platelet disorder, familial, with associated myeloid malignancy, 601399 for gene: RUNX1
20 Feb 2020
Severe Paediatric Disorders v0.10
RTTN
Louise Daugherty Added phenotypes Microcephaly, short stature, and polymicrogyria with seizures, 614833 for gene: RTTN
20 Feb 2020
Severe Paediatric Disorders v0.10
RTN4IP1
Louise Daugherty Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 for gene: RTN4IP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RTN2
Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
20 Feb 2020
Severe Paediatric Disorders v0.10
RTEL1
Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 for gene: RTEL1
20 Feb 2020
Severe Paediatric Disorders v0.10
RSPO4
Louise Daugherty Added phenotypes Anonychia congenita, 206800 for gene: RSPO4
20 Feb 2020
Severe Paediatric Disorders v0.10
RSPH9
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 12, 612650 for gene: RSPH9
20 Feb 2020
Severe Paediatric Disorders v0.10
RSPH4A
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 11, 612649 for gene: RSPH4A
20 Feb 2020
Severe Paediatric Disorders v0.10
RSPH3
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 32, 616481 for gene: RSPH3
20 Feb 2020
Severe Paediatric Disorders v0.10
RSPH1
Louise Daugherty Added phenotypes Ciliary dyskinesia, primary, 24, 615481 for gene: RSPH1
20 Feb 2020
Severe Paediatric Disorders v0.10
RS1
Louise Daugherty Added phenotypes Retinoschisis, 312700 for gene: RS1
20 Feb 2020
Severe Paediatric Disorders v0.10
RRM2B
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 for gene: RRM2B
20 Feb 2020
Severe Paediatric Disorders v0.10
RPSA
Louise Daugherty Added phenotypes Asplenia, isolated congenital, 271400 for gene: RPSA
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS7
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 8, 612563 for gene: RPS7
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS6KA3
Louise Daugherty Added phenotypes Coffin-Lowry syndrome, 303600; Mental retardation, X-linked 19, 300844 for gene: RPS6KA3
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS26
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 10, 613309 for gene: RPS26
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS24
Louise Daugherty Added phenotypes Diamond-blackfan anemia 3, 610629 for gene: RPS24
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS19
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 1, 105650 for gene: RPS19
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS17
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 4, 612527 for gene: RPS17
20 Feb 2020
Severe Paediatric Disorders v0.10
RPS10
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 9, 613308 for gene: RPS10
20 Feb 2020
Severe Paediatric Disorders v0.10
RPL5
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 6, 612561 for gene: RPL5
20 Feb 2020
Severe Paediatric Disorders v0.10
RPL35A
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 5, 612528 for gene: RPL35A
20 Feb 2020
Severe Paediatric Disorders v0.10
RPL11
Louise Daugherty Added phenotypes Diamond-Blackfan anemia 7, 612562 for gene: RPL11
20 Feb 2020
Severe Paediatric Disorders v0.10
RPL10
Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic, 35, 300998 for gene: RPL10
20 Feb 2020
Severe Paediatric Disorders v0.10
RPIA
Louise Daugherty Added phenotypes Ribose 5-phosphate isomerase deficiency, 608611 for gene: RPIA
20 Feb 2020
Severe Paediatric Disorders v0.10
RPGRIP1L
Louise Daugherty Added phenotypes Meckel syndrome 5, 611561; COACH syndrome, 216360; Joubert syndrome 7, 611560 for gene: RPGRIP1L
20 Feb 2020
Severe Paediatric Disorders v0.10
RPGRIP1
Louise Daugherty Added phenotypes Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194 for gene: RPGRIP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RPGR
Louise Daugherty Added phenotypes Retinitis pigmentosa 3, 300029; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 for gene: RPGR
20 Feb 2020
Severe Paediatric Disorders v0.10
RPE65
Louise Daugherty Added phenotypes Retinitis pigmentosa 20, 613794; Leber congenital amaurosis 2, 204100 for gene: RPE65
20 Feb 2020
Severe Paediatric Disorders v0.10
RORC
Louise Daugherty Added phenotypes Immunodeficiency 42, 616622 for gene: RORC
20 Feb 2020
Severe Paediatric Disorders v0.10
RORB
Louise Daugherty Added phenotypes {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 for gene: RORB
20 Feb 2020
Severe Paediatric Disorders v0.10
RORA
Louise Daugherty Added phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 for gene: RORA
20 Feb 2020
Severe Paediatric Disorders v0.10
ROR2
Louise Daugherty Added phenotypes Robinow syndrome, autosomal recessive, 268310; Brachydactyly, type B1, 113000 for gene: ROR2
20 Feb 2020
Severe Paediatric Disorders v0.10
ROGDI
Louise Daugherty Added phenotypes Kohlschutter-Tonz syndrome, 226750 for gene: ROGDI
20 Feb 2020
Severe Paediatric Disorders v0.10
ROBO3
Louise Daugherty Added phenotypes Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 for gene: ROBO3
20 Feb 2020
Severe Paediatric Disorders v0.10
ROBO1
Louise Daugherty Added phenotypes tetralogy of Fallot and septal defects for gene: ROBO1
20 Feb 2020
Severe Paediatric Disorders v0.10
RNU4ATAC
Louise Daugherty Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, 210710; Roifman syndrome, 616651 for gene: RNU4ATAC
20 Feb 2020
Severe Paediatric Disorders v0.10
RNF216
Louise Daugherty Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
20 Feb 2020
Severe Paediatric Disorders v0.10
RNF170
Louise Daugherty Added phenotypes Ataxia, sensory, 1, autosomal dominant, 608984 for gene: RNF170
20 Feb 2020
Severe Paediatric Disorders v0.10
RNF168
Louise Daugherty Added phenotypes RIDDLE syndrome, 611943 for gene: RNF168
20 Feb 2020
Severe Paediatric Disorders v0.10
RNF125
Louise Daugherty Added phenotypes Tenorio syndrome, 616260 for gene: RNF125
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASET2
Louise Daugherty Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASEH2C
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASEH2B
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASEH2A
Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
20 Feb 2020
Severe Paediatric Disorders v0.10
RNASEH1
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 for gene: RNASEH1
20 Feb 2020
Severe Paediatric Disorders v0.10
RMRP
Louise Daugherty Added phenotypes Anauxetic dysplasia 1, 607095; Metaphyseal dysplasia without hypotrichosis, 250460; Cartilage-hair hypoplasia, 250250 for gene: RMRP
20 Feb 2020
Severe Paediatric Disorders v0.10
RMND1
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 11, 614922 for gene: RMND1
20 Feb 2020
Severe Paediatric Disorders v0.10
RLIM
Louise Daugherty Added phenotypes Tonne-Kalscheuer syndrome, 300978 for gene: RLIM
20 Feb 2020
Severe Paediatric Disorders v0.10
RIT1
Louise Daugherty Added phenotypes Noonan syndrome 8, 615355 for gene: RIT1
20 Feb 2020
Severe Paediatric Disorders v0.10
RIPK4
Louise Daugherty Added phenotypes Popliteal pterygium syndrome, Bartsocas-Papas type, 263650; CHAND syndrome, 214350 for gene: RIPK4
20 Feb 2020
Severe Paediatric Disorders v0.10
RIPK1
Louise Daugherty Added phenotypes Immunodeficiency 57, 618108 for gene: RIPK1
20 Feb 2020
Severe Paediatric Disorders v0.10
RHOBTB2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 64, 618004 for gene: RHOBTB2
20 Feb 2020
Severe Paediatric Disorders v0.10
RHAG
Louise Daugherty Added phenotypes Overhydrated hereditary stomatocytosis, 185000; Anemia, hemolytic, Rh-null, regulator type, 268150 for gene: RHAG
20 Feb 2020
Severe Paediatric Disorders v0.10
RFXAP
Louise Daugherty Added phenotypes Bare lymphocyte syndrome, type II, complementation group D, 209920 for gene: RFXAP
20 Feb 2020
Severe Paediatric Disorders v0.10
RFXANK
Louise Daugherty Added phenotypes MHC class II deficiency, complementation group B, 209920 for gene: RFXANK
20 Feb 2020
Severe Paediatric Disorders v0.10
RFX6
Louise Daugherty Added phenotypes Mitchell-Riley syndrome, 615710 for gene: RFX6
20 Feb 2020
Severe Paediatric Disorders v0.10
RFX5
Louise Daugherty Added phenotypes Bare lymphocyte syndrome, type II, complementation group C, 209920; Bare lymphocyte syndrome, type II, complementation group E, 209920 for gene: RFX5
20 Feb 2020
Severe Paediatric Disorders v0.10
RFT1
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type In, 612015 for gene: RFT1
20 Feb 2020
Severe Paediatric Disorders v0.10
RETREG1
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, 613115 for gene: RETREG1
20 Feb 2020
Severe Paediatric Disorders v0.10
RET
Louise Daugherty Added phenotypes Central hypoventilation syndrome, congenital, 209880 for gene: RET
20 Feb 2020
Severe Paediatric Disorders v0.10
RERE
Louise Daugherty Added phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 for gene: RERE
20 Feb 2020
Severe Paediatric Disorders v0.10
REN
Louise Daugherty Added phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092; Renal tubular dysgenesis, 267430 for gene: REN
20 Feb 2020
Severe Paediatric Disorders v0.10
RELN
Louise Daugherty Added phenotypes Lissencephaly 2 (Norman-Roberts type), 257320 for gene: RELN
20 Feb 2020
Severe Paediatric Disorders v0.10
REEP1
Louise Daugherty Added phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751; Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RECQL4
Louise Daugherty Added phenotypes RAPADILINO syndrome, 266280; Rothmund-Thomson syndrome, type 2,, 268400; Baller-Gerold syndrome, 218600 for gene: RECQL4
20 Feb 2020
Severe Paediatric Disorders v0.10
RBPJ
Louise Daugherty Added phenotypes Adams-Oliver syndrome 3, 614814 for gene: RBPJ
20 Feb 2020
Severe Paediatric Disorders v0.10
RBM8A
Louise Daugherty Added phenotypes Thrombocytopenia-absent radius syndrome, 274000 for gene: RBM8A
20 Feb 2020
Severe Paediatric Disorders v0.10
RBM10
Louise Daugherty Added phenotypes TARP syndrome, 311900 for gene: RBM10
20 Feb 2020
Severe Paediatric Disorders v0.10
RBCK1
Louise Daugherty Added phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 for gene: RBCK1
20 Feb 2020
Severe Paediatric Disorders v0.10
RBBP8
Louise Daugherty Added phenotypes Pancreatic carcinoma, somatic; Jawad syndrome, 251255; Seckel syndrome 2, 606744 for gene: RBBP8
20 Feb 2020
Severe Paediatric Disorders v0.10
RAX
Louise Daugherty Added phenotypes Microphthalmia, isolated 3, 611038 for gene: RAX
20 Feb 2020
Severe Paediatric Disorders v0.10
RASGRP2
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 18, 615888 for gene: RASGRP2
20 Feb 2020
Severe Paediatric Disorders v0.10
RASGRP1
Louise Daugherty Added phenotypes Immunodeficiency 64, 618534 for gene: RASGRP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RASA1
Louise Daugherty Added phenotypes Capillary malformation-arteriovenous malformation 1, 608354 for gene: RASA1
20 Feb 2020
Severe Paediatric Disorders v0.10
RARS2
Louise Daugherty Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 for gene: RARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
RARS
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 9, 616140 for gene: RARS
20 Feb 2020
Severe Paediatric Disorders v0.10
RARB
Louise Daugherty Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB
20 Feb 2020
Severe Paediatric Disorders v0.10
RAPSN
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 2, 618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 for gene: RAPSN
20 Feb 2020
Severe Paediatric Disorders v0.10
RALA
Louise Daugherty Added phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology; Global developmental delay; Abnormality of nervous system morphology; Seizures; Intellectual disability for gene: RALA
20 Feb 2020
Severe Paediatric Disorders v0.10
RAI1
Louise Daugherty Added phenotypes Smith-Magenis syndrome, 182290 for gene: RAI1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAG2
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG2
20 Feb 2020
Severe Paediatric Disorders v0.10
RAG1
Louise Daugherty Added phenotypes Combined cellular and humoral immune defects with granulomas, 233650; Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889; Severe combined immunodeficiency, B cell-negative, 601457; Omenn syndrome, 603554 for gene: RAG1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAF1
Louise Daugherty Added phenotypes Cardiomyopathy, dilated, 1NN, 615916; LEOPARD syndrome 2, 611554; Noonan syndrome 5, 611553 for gene: RAF1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAD21
Louise Daugherty Added phenotypes ?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701 for gene: RAD21
20 Feb 2020
Severe Paediatric Disorders v0.10
RAC3
Louise Daugherty Added phenotypes Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, 618577 for gene: RAC3
20 Feb 2020
Severe Paediatric Disorders v0.10
RAC2
Louise Daugherty Added phenotypes Neutrophil immunodeficiency syndrome, 608203 for gene: RAC2
20 Feb 2020
Severe Paediatric Disorders v0.10
RAC1
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 48, 617751 for gene: RAC1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB7A
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 2B, 600882 for gene: RAB7A
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB3GAP2
Louise Daugherty Added phenotypes Warburg micro syndrome 2, 614225; Martsolf syndrome, 212720 for gene: RAB3GAP2
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB3GAP1
Louise Daugherty Added phenotypes Warburg micro syndrome 1, 600118 for gene: RAB3GAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB39B
Louise Daugherty Added phenotypes Waisman syndrome, 311510; Mental retardation, X-linked 72, 300271 for gene: RAB39B
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB33B
Louise Daugherty Added phenotypes Smith-McCort dysplasia 2, 615222 for gene: RAB33B
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB27A
Louise Daugherty Added phenotypes Griscelli syndrome, type 2, 607624 for gene: RAB27A
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB23
Louise Daugherty Added phenotypes Carpenter syndrome, 201000 for gene: RAB23
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB18
Louise Daugherty Added phenotypes Warburg micro syndrome 3, 614222 for gene: RAB18
20 Feb 2020
Severe Paediatric Disorders v0.10
RAB11B
Louise Daugherty Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 for gene: RAB11B
20 Feb 2020
Severe Paediatric Disorders v0.10
QRSL1
Louise Daugherty Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
20 Feb 2020
Severe Paediatric Disorders v0.10
QRICH1
Louise Daugherty Added phenotypes Ververi-Brady syndrome, 617982 for gene: QRICH1
20 Feb 2020
Severe Paediatric Disorders v0.10
QDPR
Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 for gene: QDPR
20 Feb 2020
Severe Paediatric Disorders v0.10
QARS
Louise Daugherty Added phenotypes Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 for gene: QARS
20 Feb 2020
Severe Paediatric Disorders v0.10
PYGM
Louise Daugherty Added phenotypes McArdle disease, 232600 for gene: PYGM
20 Feb 2020
Severe Paediatric Disorders v0.10
PYGL
Louise Daugherty Added phenotypes Glycogen storage disease VI, 232700 for gene: PYGL
20 Feb 2020
Severe Paediatric Disorders v0.10
PYCR2
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 10, 616420 for gene: PYCR2
20 Feb 2020
Severe Paediatric Disorders v0.10
PYCR1
Louise Daugherty Added phenotypes Cutis laxa, autosomal recessive, type IIB, 612940; Cutis laxa, autosomal recessive, type IIIB, 614438 for gene: PYCR1
20 Feb 2020
Severe Paediatric Disorders v0.10
PUS7
Louise Daugherty Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
20 Feb 2020
Severe Paediatric Disorders v0.10
PUS3
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 55, 617051 for gene: PUS3
20 Feb 2020
Severe Paediatric Disorders v0.10
PUS1
Louise Daugherty Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 for gene: PUS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PURA
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 31, 616158 for gene: PURA
20 Feb 2020
Severe Paediatric Disorders v0.10
PUM1
Louise Daugherty Added phenotypes Spinocerebellar ataxia 47, 617931 for gene: PUM1
20 Feb 2020
Severe Paediatric Disorders v0.10
PUF60
Louise Daugherty Added phenotypes Verheij syndrome, 615583 for gene: PUF60
20 Feb 2020
Severe Paediatric Disorders v0.10
PTS
Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 for gene: PTS
20 Feb 2020
Severe Paediatric Disorders v0.10
PTPRC
Louise Daugherty Added phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 for gene: PTPRC
20 Feb 2020
Severe Paediatric Disorders v0.10
PTPN23
Louise Daugherty Added phenotypes Developmental epileptic encephalopathy with hypomyelination and brain atrophy for gene: PTPN23
20 Feb 2020
Severe Paediatric Disorders v0.10
PTPN11
Louise Daugherty Added phenotypes Metachondromatosis, 156250; Noonan syndrome 1, 163950; LEOPARD syndrome 1, 151100 for gene: PTPN11
20 Feb 2020
Severe Paediatric Disorders v0.10
PTHLH
Louise Daugherty Added phenotypes Brachydactyly, type E2, 613382 for gene: PTHLH
20 Feb 2020
Severe Paediatric Disorders v0.10
PTH1R
Louise Daugherty Added phenotypes Eiken syndrome, 600002; Failure of tooth eruption, primary, 125350; Metaphyseal chondrodysplasia, Murk Jansen type, 156400; Chondrodysplasia, Blomstrand type, 215045 for gene: PTH1R
20 Feb 2020
Severe Paediatric Disorders v0.10
PTF1A
Louise Daugherty Added phenotypes Pancreatic agenesis 2, 615935; Pancreatic and cerebellar agenesis, 609069 for gene: PTF1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PTEN
Louise Daugherty Added phenotypes Macrocephaly/autism syndrome, 605309; Cowden syndrome 1, 158350; Lhermitte-Duclos syndrome, 158350 for gene: PTEN
20 Feb 2020
Severe Paediatric Disorders v0.10
PTDSS1
Louise Daugherty Added phenotypes Lenz-Majewski hyperostotic dwarfism, 151050 for gene: PTDSS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PTCH1
Louise Daugherty Added phenotypes Basal cell nevus syndrome, 109400; Holoprosencephaly 7, 610828 for gene: PTCH1
20 Feb 2020
Severe Paediatric Disorders v0.10
PSTPIP1
Louise Daugherty Added phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 for gene: PSTPIP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PSPH
Louise Daugherty Added phenotypes Phosphoserine phosphatase deficiency, 614023 for gene: PSPH
20 Feb 2020
Severe Paediatric Disorders v0.10
PSMD12
Louise Daugherty Added phenotypes Stankiewicz-Isidor syndrome, 617516 for gene: PSMD12
20 Feb 2020
Severe Paediatric Disorders v0.10
PSMB8
Louise Daugherty Added phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 for gene: PSMB8
20 Feb 2020
Severe Paediatric Disorders v0.10
PSEN1
Louise Daugherty Added phenotypes ?Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, 607822; Pick disease, 172700; Cardiomyopathy, dilated, 1U, 613694; Dementia, frontotemporal, 600274; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 for gene: PSEN1
20 Feb 2020
Severe Paediatric Disorders v0.10
PSAT1
Louise Daugherty Added phenotypes Neu-Laxova syndrome 2, 616038; ?Phosphoserine aminotransferase deficiency, 610992 for gene: PSAT1
20 Feb 2020
Severe Paediatric Disorders v0.10
PSAP
Louise Daugherty Added phenotypes Combined SAP deficiency, 611721; Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Gaucher disease, atypical, 610539; Krabbe disease, atypical, 611722 for gene: PSAP
20 Feb 2020
Severe Paediatric Disorders v0.10
PRX
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4F, 614895; Dejerine-Sottas disease, 145900 for gene: PRX
20 Feb 2020
Severe Paediatric Disorders v0.10
PRUNE1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 for gene: PRUNE1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRSS56
Louise Daugherty Added phenotypes Microphthalmia, isolated 6, 613517 for gene: PRSS56
20 Feb 2020
Severe Paediatric Disorders v0.10
PRSS12
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 1, 249500 for gene: PRSS12
20 Feb 2020
Severe Paediatric Disorders v0.10
PRRT2
Louise Daugherty Added phenotypes Episodic kinesigenic dyskinesia 1, 128200; Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066; Seizures, benign familial infantile, 2, 605751 for gene: PRRT2
20 Feb 2020
Severe Paediatric Disorders v0.10
PRR12
Louise Daugherty Added phenotypes Intellectual disability and iris abnormalities for gene: PRR12
20 Feb 2020
Severe Paediatric Disorders v0.10
PRPS1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070; Deafness, X-linked 1, 304500; Phosphoribosylpyrophosphate synthetase superactivity, 300661; Gout, PRPS-related, 300661; Arts syndrome, 301835 for gene: PRPS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PROS1
Louise Daugherty Added phenotypes Thrombophilia due to protein S deficiency, autosomal dominant, 612336; Thrombophilia due to protein S deficiency, autosomal recessive, 614514 for gene: PROS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PROP1
Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 2, 262600 for gene: PROP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PROKR2
Louise Daugherty Added phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 for gene: PROKR2
20 Feb 2020
Severe Paediatric Disorders v0.10
PRODH
Louise Daugherty Added phenotypes Hyperprolinemia, type I, 239500 for gene: PRODH
20 Feb 2020
Severe Paediatric Disorders v0.10
PROC
Louise Daugherty Added phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304; Thrombophilia due to protein C deficiency, autosomal dominant, 176860 for gene: PROC
20 Feb 2020
Severe Paediatric Disorders v0.10
PRNP
Louise Daugherty Added phenotypes Creutzfeldt-Jakob disease, 123400; Huntington disease-like 1, 603218; Insomnia, fatal familial, 600072; Prion disease with protracted course, 606688; Cerebral amyloid angiopathy, PRNP-related, 137440; Gerstmann-Straussler disease, 137440 for gene: PRNP
20 Feb 2020
Severe Paediatric Disorders v0.10
PRMT7
Louise Daugherty Added phenotypes Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 for gene: PRMT7
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKRA
Louise Daugherty Added phenotypes Dystonia 16, 612067 for gene: PRKRA
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKN
Louise Daugherty Added phenotypes Parkinson disease, juvenile, type 2, 600116 for gene: PRKN
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKDC
Louise Daugherty Added phenotypes Immunodeficiency 26, with or without neurologic abnormalities, 615966 for gene: PRKDC
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKD1
Louise Daugherty Added phenotypes Congenital heart defects and ectodermal dysplasia, 617364 for gene: PRKD1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKCG
Louise Daugherty Added phenotypes Spinocerebellar ataxia 14, 605361 for gene: PRKCG
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKCD
Louise Daugherty Added phenotypes Autoimmune lymphoproliferative syndrome, type III, 615559 for gene: PRKCD
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKAR1A
Louise Daugherty Added phenotypes Pigmented nodular adrenocortical disease, primary, 1, 610489; Carney complex, type 1, 160980; Acrodysostosis 1, with or without hormone resistance, 101800; Myxoma, intracardiac, 255960 for gene: PRKAR1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PRKAG2
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic 6, 600858; Wolff-Parkinson-White syndrome, 194200; Glycogen storage disease of heart, lethal congenital, 261740 for gene: PRKAG2
20 Feb 2020
Severe Paediatric Disorders v0.10
PRICKLE1
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 1B, 612437 for gene: PRICKLE1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRG4
Louise Daugherty Added phenotypes Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 for gene: PRG4
20 Feb 2020
Severe Paediatric Disorders v0.10
PRF1
Louise Daugherty Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553; Lymphoma, non-Hodgkin, 605027; Aplastic anemia, 609135 for gene: PRF1
20 Feb 2020
Severe Paediatric Disorders v0.10
PRDM12
Louise Daugherty Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488 for gene: PRDM12
20 Feb 2020
Severe Paediatric Disorders v0.10
PQBP1
Louise Daugherty Added phenotypes Renpenning syndrome, 309500 for gene: PQBP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PPT1
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 for gene: PPT1
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP3CA
Louise Daugherty Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265; Epileptic encephalopathy, infantile or early childhood, 1, 617711 for gene: PPP3CA
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP2R5D
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 35, 616355 for gene: PPP2R5D
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP2R2B
Louise Daugherty Added phenotypes Spinocerebellar ataxia 12, 604326 for gene: PPP2R2B
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP2R1A
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 36, 616362 for gene: PPP2R1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP2CA
Louise Daugherty Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP1R21
Louise Daugherty Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology; Hepatosplenomegaly; Abnormality of the respiratory system for gene: PPP1R21
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP1R15B
Louise Daugherty Added phenotypes Microcephaly, short stature, and impaired glucose metabolism 2, 616817 for gene: PPP1R15B
20 Feb 2020
Severe Paediatric Disorders v0.10
PPP1CB
Louise Daugherty Added phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 for gene: PPP1CB
20 Feb 2020
Severe Paediatric Disorders v0.10
PPOX
Louise Daugherty Added phenotypes Porphyria variegata, 176200 for gene: PPOX
20 Feb 2020
Severe Paediatric Disorders v0.10
PPM1D
Louise Daugherty Added phenotypes Jansen de Vries syndrome, 617450 for gene: PPM1D
20 Feb 2020
Severe Paediatric Disorders v0.10
PPIB
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type IX, 259440 for gene: PPIB
20 Feb 2020
Severe Paediatric Disorders v0.10
PPA2
Louise Daugherty Added phenotypes Sudden cardiac failure, infantile, 617222 for gene: PPA2
20 Feb 2020
Severe Paediatric Disorders v0.10
POU4F3
Louise Daugherty Added phenotypes Deafness, autosomal dominant 15, 602459 for gene: POU4F3
20 Feb 2020
Severe Paediatric Disorders v0.10
POU3F4
Louise Daugherty Added phenotypes Deafness, X-linked 2, 304400 for gene: POU3F4
20 Feb 2020
Severe Paediatric Disorders v0.10
POU3F3
Louise Daugherty Added phenotypes Snijders Blok-Fisher syndrome, 618604 for gene: POU3F3
20 Feb 2020
Severe Paediatric Disorders v0.10
POU1F1
Louise Daugherty Added phenotypes Pituitary hormone deficiency, combined, 1, 613038 for gene: POU1F1
20 Feb 2020
Severe Paediatric Disorders v0.10
PORCN
Louise Daugherty Added phenotypes Focal dermal hypoplasia, 305600 for gene: PORCN
20 Feb 2020
Severe Paediatric Disorders v0.10
POR
Louise Daugherty Added phenotypes Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 for gene: POR
20 Feb 2020
Severe Paediatric Disorders v0.10
POP1
Louise Daugherty Added phenotypes Anauxetic dysplasia 2, 617396 for gene: POP1
20 Feb 2020
Severe Paediatric Disorders v0.10
POMT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 for gene: POMT2
20 Feb 2020
Severe Paediatric Disorders v0.10
POMT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 for gene: POMT1
20 Feb 2020
Severe Paediatric Disorders v0.10
POMK
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 for gene: POMK
20 Feb 2020
Severe Paediatric Disorders v0.10
POMGNT2
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, 618135 for gene: POMGNT2
20 Feb 2020
Severe Paediatric Disorders v0.10
POMGNT1
Louise Daugherty Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157; Retinitis pigmentosa 76, 617123 for gene: POMGNT1
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR3B
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR3A
Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Wiedemann-Rautenstrauch syndrome, 264090 for gene: POLR3A
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR2A
Louise Daugherty Added phenotypes Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, 618603 for gene: POLR2A
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR1D
Louise Daugherty Added phenotypes Treacher Collins syndrome 2, 613717 for gene: POLR1D
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR1C
Louise Daugherty Added phenotypes Treacher Collins syndrome 3, 248390; Leukodystrophy, hypomyelinating, 11, 616494 for gene: POLR1C
20 Feb 2020
Severe Paediatric Disorders v0.10
POLR1A
Louise Daugherty Added phenotypes Acrofacial dysostosis, Cincinnati type, 616462 for gene: POLR1A
20 Feb 2020
Severe Paediatric Disorders v0.10
POLH
Louise Daugherty Added phenotypes Xeroderma pigmentosum, variant type, 278750 for gene: POLH
20 Feb 2020
Severe Paediatric Disorders v0.10
POLG2
Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131; Mitochondrial DNA depletion syndrome 16 (hepatic type), 618528 for gene: POLG2
20 Feb 2020
Severe Paediatric Disorders v0.10
POLG
Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Progressive external ophthalmoplegia, autosomal recessive 1, 258450; Progressive external ophthalmoplegia, autosomal dominant 1, 157640 for gene: POLG
20 Feb 2020
Severe Paediatric Disorders v0.10
POLE
Louise Daugherty Added phenotypes IMAGE-I syndrome, 618336; FILS syndrome, 615139 for gene: POLE
20 Feb 2020
Severe Paediatric Disorders v0.10
POLD1
Louise Daugherty Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 for gene: POLD1
20 Feb 2020
Severe Paediatric Disorders v0.10
POLA1
Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
20 Feb 2020
Severe Paediatric Disorders v0.10
POGZ
Louise Daugherty Added phenotypes White-Sutton syndrome, 616364 for gene: POGZ
20 Feb 2020
Severe Paediatric Disorders v0.10
POC1B
Louise Daugherty Added phenotypes Cone-rod dystrophy 20, 615973 for gene: POC1B
20 Feb 2020
Severe Paediatric Disorders v0.10
POC1A
Louise Daugherty Added phenotypes Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 for gene: POC1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PNPT1
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 13, 614932; Deafness, autosomal recessive 70, 614934 for gene: PNPT1
20 Feb 2020
Severe Paediatric Disorders v0.10
PNPO
Louise Daugherty Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 for gene: PNPO
20 Feb 2020
Severe Paediatric Disorders v0.10
PNPLA6
Louise Daugherty Added phenotypes ?Laurence-Moon syndrome, 245800; Spastic paraplegia 39, autosomal recessive, 612020; Boucher-Neuhauser syndrome, 215470; Oliver-McFarlane syndrome, 275400 for gene: PNPLA6
20 Feb 2020
Severe Paediatric Disorders v0.10
PNP
Louise Daugherty Added phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 for gene: PNP
20 Feb 2020
Severe Paediatric Disorders v0.10
PNKP
Louise Daugherty Added phenotypes Microcephaly, seizures, and developmental delay, 613402; Ataxia-oculomotor apraxia 4, 616267 for gene: PNKP
20 Feb 2020
Severe Paediatric Disorders v0.10
PNKD
Louise Daugherty Added phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 for gene: PNKD
20 Feb 2020
Severe Paediatric Disorders v0.10
PMPCB
Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 for gene: PMPCB
20 Feb 2020
Severe Paediatric Disorders v0.10
PMPCA
Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
20 Feb 2020
Severe Paediatric Disorders v0.10
PMP22
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 1E, 118300; ?Neuropathy, inflammatory demyelinating, 139393; Dejerine-Sottas disease, 145900; Roussy-Levy syndrome, 180800; Neuropathy, recurrent, with pressure palsies, 162500; Charcot-Marie-Tooth disease, type 1A, 118220 for gene: PMP22
20 Feb 2020
Severe Paediatric Disorders v0.10
PMM2
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 for gene: PMM2
20 Feb 2020
Severe Paediatric Disorders v0.10
PLS3
Louise Daugherty Added phenotypes Bone mineral density QTL18, osteoporosis, 300910 for gene: PLS3
20 Feb 2020
Severe Paediatric Disorders v0.10
PLPBP
Louise Daugherty Added phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 for gene: PLPBP
20 Feb 2020
Severe Paediatric Disorders v0.10
PLP1
Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920; Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PLOD2
Louise Daugherty Added phenotypes Bruck syndrome 2, 609220 for gene: PLOD2
20 Feb 2020
Severe Paediatric Disorders v0.10
PLOD1
Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 for gene: PLOD1
20 Feb 2020
Severe Paediatric Disorders v0.10
PLK4
Louise Daugherty Added phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 for gene: PLK4
20 Feb 2020
Severe Paediatric Disorders v0.10
PLG
Louise Daugherty Added phenotypes Plasminogen deficiency, type I, 217090; Dysplasminogenemia, 217090 for gene: PLG
20 Feb 2020
Severe Paediatric Disorders v0.10
PLEC
Louise Daugherty Added phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670; ?Epidermolysis bullosa simplex with nail dystrophy, 616487; Epidermolysis bullosa simplex, Ogna type, 131950; Epidermolysis bullosa simplex with pyloric atresia, 612138 for gene: PLEC
20 Feb 2020
Severe Paediatric Disorders v0.10
PLCG2
Louise Daugherty Added phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878; Familial cold autoinflammatory syndrome 3, 614468 for gene: PLCG2
20 Feb 2020
Severe Paediatric Disorders v0.10
PLCE1
Louise Daugherty Added phenotypes Nephrotic syndrome, type 3, 610725 for gene: PLCE1
20 Feb 2020
Severe Paediatric Disorders v0.10
PLCB1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 12, 613722 for gene: PLCB1
20 Feb 2020
Severe Paediatric Disorders v0.10
PLAU
Louise Daugherty Added phenotypes Quebec platelet disorder, 601709 for gene: PLAU
20 Feb 2020
Severe Paediatric Disorders v0.10
PLAA
Louise Daugherty Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 for gene: PLAA
20 Feb 2020
Severe Paediatric Disorders v0.10
PLA2G6
Louise Daugherty Added phenotypes Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, autosomal recessive, 612953; Neurodegeneration with brain iron accumulation 2B, 610217 for gene: PLA2G6
20 Feb 2020
Severe Paediatric Disorders v0.10
PLA2G4A
Louise Daugherty Added phenotypes Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 for gene: PLA2G4A
20 Feb 2020
Severe Paediatric Disorders v0.10
PKLR
Louise Daugherty Added phenotypes Adenosine triphosphate, elevated, of erythrocytes, 102900; Pyruvate kinase deficiency, 266200 for gene: PKLR
20 Feb 2020
Severe Paediatric Disorders v0.10
PKHD1
Louise Daugherty Added phenotypes Polycystic kidney disease 4, with or without hepatic disease, 263200 for gene: PKHD1
20 Feb 2020
Severe Paediatric Disorders v0.10
PKD2
Louise Daugherty Added phenotypes Polycystic kidney disease 2, 613095 for gene: PKD2
20 Feb 2020
Severe Paediatric Disorders v0.10
PKD1L1
Louise Daugherty Added phenotypes Heterotaxy, visceral, 8, autosomal, 617205 for gene: PKD1L1
20 Feb 2020
Severe Paediatric Disorders v0.10
PKD1
Louise Daugherty Added phenotypes Polycystic kidney disease 1, 173900 for gene: PKD1
20 Feb 2020
Severe Paediatric Disorders v0.10
DFNB59
Louise Daugherty Added phenotypes Deafness, autosomal recessive 59, 610220 for gene: DFNB59
20 Feb 2020
Severe Paediatric Disorders v0.10
PITX3
Louise Daugherty Added phenotypes Cataract 11, multiple types, 610623; Anterior segment dysgenesis 1, multiple subtypes, 107250; Cataract 11, syndromic, autosomal recessive, 610623 for gene: PITX3
20 Feb 2020
Severe Paediatric Disorders v0.10
PITX2
Louise Daugherty Added phenotypes Anterior segment dysgenesis 4, 137600; Ring dermoid of cornea, 180550; Axenfeld-Rieger syndrome, type 1, 180500 for gene: PITX2
20 Feb 2020
Severe Paediatric Disorders v0.10
PITX1
Louise Daugherty Added phenotypes Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800; Liebenberg syndrome, 186550 for gene: PITX1
20 Feb 2020
Severe Paediatric Disorders v0.10
PITRM1
Louise Daugherty Added phenotypes Ataxia; Intellectual disability for gene: PITRM1
20 Feb 2020
Severe Paediatric Disorders v0.10
PINK1
Louise Daugherty Added phenotypes Parkinson disease 6, early onset, 605909 for gene: PINK1
20 Feb 2020
Severe Paediatric Disorders v0.10
PIK3R2
Louise Daugherty Added phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 for gene: PIK3R2
20 Feb 2020
Severe Paediatric Disorders v0.10
PIK3R1
Louise Daugherty Added phenotypes Immunodeficiency 36, 616005; SHORT syndrome, 269880; ?Agammaglobulinemia 7, autosomal recessive, 615214 for gene: PIK3R1
20 Feb 2020
Severe Paediatric Disorders v0.10
PIK3CD
Louise Daugherty Added phenotypes Immunodeficiency 14, 615513 for gene: PIK3CD
20 Feb 2020
Severe Paediatric Disorders v0.10
PIK3CA
Louise Daugherty Added phenotypes PIK3CA-related Overgrowth Spectrum for gene: PIK3CA
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGW
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 11, 616025 for gene: PIGW
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGV
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 1, 239300 for gene: PIGV
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGU
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 21, 618590 for gene: PIGU
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGT
Louise Daugherty Added phenotypes ?Paroxysmal nocturnal hemoglobinuria 2, 615399; Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 for gene: PIGT
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGQ
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 77, 618548 for gene: PIGQ
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGO
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 2, 614749 for gene: PIGO
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGN
Louise Daugherty Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 for gene: PIGN
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGL
Louise Daugherty Added phenotypes CHIME syndrome, 280000 for gene: PIGL
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGH
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 17, 618010 for gene: PIGH
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGG
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 53, 616917 for gene: PIGG
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGC
Louise Daugherty Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 16, 617816 for gene: PIGC
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGB
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 80, 618580 for gene: PIGB
20 Feb 2020
Severe Paediatric Disorders v0.10
PIGA
Louise Daugherty Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 for gene: PIGA
20 Feb 2020
Severe Paediatric Disorders v0.10
PIEZO2
Louise Daugherty Added phenotypes ?Marden-Walker syndrome, 248700; Arthrogryposis, distal, type 3, 114300; Arthrogryposis, distal, type 5, 108145; Arthrogryposis, distal, with impaired proprioception and touch, 617146 for gene: PIEZO2
20 Feb 2020
Severe Paediatric Disorders v0.10
PIEZO1
Louise Daugherty Added phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Lymphatic malformation 6, 616843 for gene: PIEZO1
20 Feb 2020
Severe Paediatric Disorders v0.10
PHYH
Louise Daugherty Added phenotypes Refsum disease, 266500 for gene: PHYH
20 Feb 2020
Severe Paediatric Disorders v0.10
PHOX2B
Louise Daugherty Added phenotypes Neuroblastoma with Hirschsprung disease, 613013; Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 for gene: PHOX2B
20 Feb 2020
Severe Paediatric Disorders v0.10
PHKG2
Louise Daugherty Added phenotypes Glycogen storage disease IXc, 613027; Cirrhosis due to liver phosphorylase kinase deficiency for gene: PHKG2
20 Feb 2020
Severe Paediatric Disorders v0.10
PHKB
Louise Daugherty Added phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 for gene: PHKB
20 Feb 2020
Severe Paediatric Disorders v0.10
PHKA2
Louise Daugherty Added phenotypes Glycogen storage disease, type IXa1, 306000; Glycogen storage disease, type IXa2, 306000 for gene: PHKA2
20 Feb 2020
Severe Paediatric Disorders v0.10
PHKA1
Louise Daugherty Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1
20 Feb 2020
Severe Paediatric Disorders v0.10
PHIP
Louise Daugherty Added phenotypes Developmental delay, intellectual disability, obesity, and dysmorphism, 617991 for gene: PHIP
20 Feb 2020
Severe Paediatric Disorders v0.10
PHGDH
Louise Daugherty Added phenotypes Phosphoglycerate dehydrogenase deficiency, 601815; Neu-Laxova syndrome 1, 256520 for gene: PHGDH
20 Feb 2020
Severe Paediatric Disorders v0.10
PHF8
Louise Daugherty Added phenotypes Mental retardation syndrome, X-linked, Siderius type, 300263 for gene: PHF8
20 Feb 2020
Severe Paediatric Disorders v0.10
PHF6
Louise Daugherty Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
20 Feb 2020
Severe Paediatric Disorders v0.10
PHF21A
Louise Daugherty Added phenotypes Potocki-Shaffer syndrome, 601224; PSS; Intellectual disability for gene: PHF21A
20 Feb 2020
Severe Paediatric Disorders v0.10
PHEX
Louise Daugherty Added phenotypes Hypophosphatemic rickets, X-linked dominant, 307800 for gene: PHEX
20 Feb 2020
Severe Paediatric Disorders v0.10
PHACTR1
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 70, 618298 for gene: PHACTR1
20 Feb 2020
Severe Paediatric Disorders v0.10
PGM3
Louise Daugherty Added phenotypes Immunodeficiency 23, 615816 for gene: PGM3
20 Feb 2020
Severe Paediatric Disorders v0.10
PGM1
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type It, 614921 for gene: PGM1
20 Feb 2020
Severe Paediatric Disorders v0.10
PGK1
Louise Daugherty Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1
20 Feb 2020
Severe Paediatric Disorders v0.10
PGAP3
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 4, 615716 for gene: PGAP3
20 Feb 2020
Severe Paediatric Disorders v0.10
PGAP2
Louise Daugherty Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 for gene: PGAP2
20 Feb 2020
Severe Paediatric Disorders v0.10
PGAP1
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 42, 615802 for gene: PGAP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PGAM2
Louise Daugherty Added phenotypes Glycogen storage disease X, 261670 for gene: PGAM2
20 Feb 2020
Severe Paediatric Disorders v0.10
PFKM
Louise Daugherty Added phenotypes Glycogen storage disease VII, 232800 for gene: PFKM
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX7
Louise Daugherty Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX6
Louise Daugherty Added phenotypes Heimler syndrome 2, 616617; Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX5
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110; Rhizomelic chondrodysplasia punctata, type 5, 616716; Peroxisome biogenesis disorder 2B, 202370 for gene: PEX5
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX3
Louise Daugherty Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX26
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872; Peroxisome biogenesis disorder 7B, 614873 for gene: PEX26
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX2
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 5B, 614867; Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX19
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX16
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 8A (Zellweger), 614876; Peroxisome biogenesis disorder 8B, 614877 for gene: PEX16
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX14
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX13
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 11B, 614885; Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX12
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX10
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870; Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
20 Feb 2020
Severe Paediatric Disorders v0.10
PEX1
Louise Daugherty Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Heimler syndrome 1, 234580; Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1
20 Feb 2020
Severe Paediatric Disorders v0.10
PET100
Louise Daugherty Added phenotypes Mitochondrial complex IV deficiency, 220110 for gene: PET100
20 Feb 2020
Severe Paediatric Disorders v0.10
PEPD
Louise Daugherty Added phenotypes Prolidase deficiency, 170100 for gene: PEPD
20 Feb 2020
Severe Paediatric Disorders v0.10
PDYN
Louise Daugherty Added phenotypes Spinocerebellar ataxia 23, 610245 for gene: PDYN
20 Feb 2020
Severe Paediatric Disorders v0.10
PDSS2
Louise Daugherty Added phenotypes Coenzyme Q10 deficiency, primary, 3, 614652 for gene: PDSS2
20 Feb 2020
Severe Paediatric Disorders v0.10
PDSS1
Louise Daugherty Added phenotypes Coenzyme Q10 deficiency, primary, 2, 614651 for gene: PDSS1
20 Feb 2020
Severe Paediatric Disorders v0.10
PDP1
Louise Daugherty Added phenotypes Pyruvate dehydrogenase phosphatase deficiency, 608782 for gene: PDP1
20 Feb 2020
Severe Paediatric Disorders v0.10
PDHX
Louise Daugherty Added phenotypes Lacticacidemia due to PDX1 deficiency, 245349 for gene: PDHX
20 Feb 2020
Severe Paediatric Disorders v0.10
PDHB
Louise Daugherty Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 for gene: PDHB
20 Feb 2020
Severe Paediatric Disorders v0.10
PDHA1
Louise Daugherty Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency, 312170 for gene: PDHA1
20 Feb 2020
Severe Paediatric Disorders v0.10
PDGFRB
Louise Daugherty Added phenotypes Myofibromatosis, infantile, 1, 228550; Kosaki overgrowth syndrome, 616592; Premature aging syndrome, Penttinen type, 601812; Basal ganglia calcification, idiopathic, 4, 615007; Myeloproliferative disorder with eosinophilia, 131440 for gene: PDGFRB
20 Feb 2020
Severe Paediatric Disorders v0.10
PDGFB
Louise Daugherty Added phenotypes Meningioma, SIS-related, 607174; Basal ganglia calcification, idiopathic, 5, 615483; Dermatofibrosarcoma protuberans, 607907 for gene: PDGFB
20 Feb 2020
Severe Paediatric Disorders v0.10
PDE6G
Louise Daugherty Added phenotypes Retinitis pigmentosa 57, 613582 for gene: PDE6G
20 Feb 2020
Severe Paediatric Disorders v0.10
PDE4D
Louise Daugherty Added phenotypes Acrodysostosis 2, with or without hormone resistance, 614613 for gene: PDE4D
20 Feb 2020
Severe Paediatric Disorders v0.10
PDE3A
Louise Daugherty Added phenotypes Hypertension and brachydactyly syndrome, 112410 for gene: PDE3A
20 Feb 2020
Severe Paediatric Disorders v0.10
PDE10A
Louise Daugherty Added phenotypes Dyskinesia, limb and orofacial, infantile-onset, 616921; Striatal degeneration, autosomal dominant, 616922 for gene: PDE10A
20 Feb 2020
Severe Paediatric Disorders v0.10
PDCD10
Louise Daugherty Added phenotypes Cerebral cavernous malformations 3, 603285 for gene: PDCD10
20 Feb 2020
Severe Paediatric Disorders v0.10
PCYT1A
Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A
20 Feb 2020
Severe Paediatric Disorders v0.10
PCSK9
Louise Daugherty Added phenotypes Hypercholesterolemia, familial, 3, 603776 for gene: PCSK9
20 Feb 2020
Severe Paediatric Disorders v0.10
PCNT
Louise Daugherty Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 for gene: PCNT
20 Feb 2020
Severe Paediatric Disorders v0.10
PCGF2
Louise Daugherty Added phenotypes Turnpenny-Fry syndrome, 618371 for gene: PCGF2
20 Feb 2020
Severe Paediatric Disorders v0.10
PCDH19
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 9, 300088 for gene: PCDH19
20 Feb 2020
Severe Paediatric Disorders v0.10
PCDH15
Louise Daugherty Added phenotypes Deafness, autosomal recessive 23, 609533; Usher syndrome, type 1F, 602083; Usher syndrome, type 1D/F digenic, 601067 for gene: PCDH15
20 Feb 2020
Severe Paediatric Disorders v0.10
PCDH12
Louise Daugherty Added phenotypes Diencephalic-mesencephalic junction dysplasia syndrome 1, 251280 for gene: PCDH12
20 Feb 2020
Severe Paediatric Disorders v0.10
PCCB
Louise Daugherty Added phenotypes Propionicacidemia, 606054 for gene: PCCB
20 Feb 2020
Severe Paediatric Disorders v0.10
PCCA
Louise Daugherty Added phenotypes Propionicacidemia, 606054 for gene: PCCA
20 Feb 2020
Severe Paediatric Disorders v0.10
PCBD1
Louise Daugherty Added phenotypes Hyperphenylalaninemia, BH4-deficient, D, 264070 for gene: PCBD1
20 Feb 2020
Severe Paediatric Disorders v0.10
C2orf71
Louise Daugherty Added phenotypes Retinitis pigmentosa 54, 613428 for gene: C2orf71
20 Feb 2020
Severe Paediatric Disorders v0.10
PC
Louise Daugherty Added phenotypes Pyruvate carboxylase deficiency, 266150 for gene: PC
20 Feb 2020
Severe Paediatric Disorders v0.10
PBX1
Louise Daugherty Added phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 for gene: PBX1
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX9
Louise Daugherty Added phenotypes Tooth agenesis, selective, 3, 604625 for gene: PAX9
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX8
Louise Daugherty Added phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700 for gene: PAX8
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX6
Louise Daugherty Added phenotypes Anterior segment dysgenesis 5, multiple subtypes, 604229; Keratitis, 148190; Cataract with late-onset corneal dystrophy, 106210; ?Coloboma, ocular, 120200; Optic nerve hypoplasia, 165550; ?Coloboma of optic nerve, 120430; Foveal hypoplasia 1, 136520; Aniridia, 106210; ?Morning glory disc anomaly, 120430 for gene: PAX6
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX3
Louise Daugherty Added phenotypes Rhabdomyosarcoma 2, alveolar, 268220; Waardenburg syndrome, type 1, 193500; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 3, 148820 for gene: PAX3
20 Feb 2020
Severe Paediatric Disorders v0.10
PAX2
Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 7, 616002; Papillorenal syndrome, 120330 for gene: PAX2
20 Feb 2020
Severe Paediatric Disorders v0.10
PARS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 75, 618437 for gene: PARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
PARN
Louise Daugherty Added phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371; Dyskeratosis congenita, autosomal recessive 6, 616353 for gene: PARN
20 Feb 2020
Severe Paediatric Disorders v0.10
PARK7
Louise Daugherty Added phenotypes Parkinson disease 7, autosomal recessive early-onset, 606324 for gene: PARK7
20 Feb 2020
Severe Paediatric Disorders v0.10
PAPSS2
Louise Daugherty Added phenotypes Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 for gene: PAPSS2
20 Feb 2020
Severe Paediatric Disorders v0.10
PAPPA2
Louise Daugherty Added phenotypes Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density for gene: PAPPA2
20 Feb 2020
Severe Paediatric Disorders v0.10
PANK2
Louise Daugherty Added phenotypes Neurodegeneration with brain iron accumulation 1, 234200; HARP syndrome, 607236 for gene: PANK2
20 Feb 2020
Severe Paediatric Disorders v0.10
PALB2
Louise Daugherty Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
20 Feb 2020
Severe Paediatric Disorders v0.10
PAK3
Louise Daugherty Added phenotypes Mental retardation, X-linked 30/47, 300558 for gene: PAK3
20 Feb 2020
Severe Paediatric Disorders v0.10
PAH
Louise Daugherty Added phenotypes Phenylketonuria, 261600 for gene: PAH
20 Feb 2020
Severe Paediatric Disorders v0.10
PAFAH1B1
Louise Daugherty Added phenotypes Lissencephaly 1, 607432; Subcortical laminar heterotopia, 607432 for gene: PAFAH1B1
20 Feb 2020
Severe Paediatric Disorders v0.10
PACS2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 66, 618067 for gene: PACS2
20 Feb 2020
Severe Paediatric Disorders v0.10
PACS1
Louise Daugherty Added phenotypes Schuurs-Hoeijmakers syndrome, 615009 for gene: PACS1
20 Feb 2020
Severe Paediatric Disorders v0.10
P4HTM
Louise Daugherty Added phenotypes Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, 618493 for gene: P4HTM
20 Feb 2020
Severe Paediatric Disorders v0.10
P3H1
Louise Daugherty Added phenotypes Osteogenesis imperfecta, type VIII, 610915 for gene: P3H1
20 Feb 2020
Severe Paediatric Disorders v0.10
P2RY12
Louise Daugherty Added phenotypes Bleeding disorder, platelet-type, 8, 609821 for gene: P2RY12
20 Feb 2020
Severe Paediatric Disorders v0.10
OXCT1
Louise Daugherty Added phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 for gene: OXCT1
20 Feb 2020
Severe Paediatric Disorders v0.10
OTX2
Louise Daugherty Added phenotypes Microphthalmia, syndromic 5, 610125; Pituitary hormone deficiency, combined, 6, 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 for gene: OTX2
20 Feb 2020
Severe Paediatric Disorders v0.10
OTULIN
Louise Daugherty Added phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, 617099 for gene: OTULIN
20 Feb 2020
Severe Paediatric Disorders v0.10
OTUD6B
Louise Daugherty Added phenotypes Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 for gene: OTUD6B
20 Feb 2020
Severe Paediatric Disorders v0.10
OTOGL
Louise Daugherty Added phenotypes Deafness, autosomal recessive 84B, 614944 for gene: OTOGL
20 Feb 2020
Severe Paediatric Disorders v0.10
OTOF
Louise Daugherty Added phenotypes Deafness, autosomal recessive 9, 601071; Auditory neuropathy, autosomal recessive, 1, 601071 for gene: OTOF
20 Feb 2020
Severe Paediatric Disorders v0.10
OTOA
Louise Daugherty Added phenotypes Deafness, autosomal recessive 22, 607039 for gene: OTOA
20 Feb 2020
Severe Paediatric Disorders v0.10
OTC
Louise Daugherty Added phenotypes Ornithine transcarbamylase deficiency, 311250 for gene: OTC
20 Feb 2020
Severe Paediatric Disorders v0.10
OSTM1
Louise Daugherty Added phenotypes Osteopetrosis, autosomal recessive 5, 259720 for gene: OSTM1
20 Feb 2020
Severe Paediatric Disorders v0.10
OSMR
Louise Daugherty Added phenotypes Amyloidosis, primary localized cutaneous, 1, 105250 for gene: OSMR
20 Feb 2020
Severe Paediatric Disorders v0.10
OSGEP
Louise Daugherty Added phenotypes Galloway-Mowat syndrome 3, 617729 for gene: OSGEP
20 Feb 2020
Severe Paediatric Disorders v0.10
ORC6
Louise Daugherty Added phenotypes Meier-Gorlin syndrome 3, 613803 for gene: ORC6
20 Feb 2020
Severe Paediatric Disorders v0.10
ORC4
Louise Daugherty Added phenotypes Meier-Gorlin syndrome 2, 613800 for gene: ORC4
20 Feb 2020
Severe Paediatric Disorders v0.10
ORC1
Louise Daugherty Added phenotypes Meier-Gorlin syndrome 1, 224690 for gene: ORC1
20 Feb 2020
Severe Paediatric Disorders v0.10
ORAI1
Louise Daugherty Added phenotypes Immunodeficiency 9, 612782; Myopathy, tubular aggregate, 2, 615883 for gene: ORAI1
20 Feb 2020
Severe Paediatric Disorders v0.10
OPHN1
Louise Daugherty Added phenotypes Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 for gene: OPHN1
20 Feb 2020
Severe Paediatric Disorders v0.10
OPA3
Louise Daugherty Added phenotypes Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
20 Feb 2020
Severe Paediatric Disorders v0.10
OPA1
Louise Daugherty Added phenotypes ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896; Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
20 Feb 2020
Severe Paediatric Disorders v0.10
OGT
Louise Daugherty Added phenotypes Mental retardation, X-linked 106, 300997 for gene: OGT
20 Feb 2020
Severe Paediatric Disorders v0.10
OFD1
Louise Daugherty Added phenotypes Joubert syndrome 10, 300804; ?Retinitis pigmentosa 23, 300424; Simpson-Golabi-Behmel syndrome, type 2, 300209; Orofaciodigital syndrome I, 311200 for gene: OFD1
20 Feb 2020
Severe Paediatric Disorders v0.10
ODC1
Louise Daugherty Added phenotypes Global developmental delay; Ectodermal dysplasia; Alopecia; Intellectual disability; Macrocephaly for gene: ODC1
20 Feb 2020
Severe Paediatric Disorders v0.10
C4orf26
Louise Daugherty Added phenotypes Amelogenesis imperfecta, type IIA4, 614832 for gene: C4orf26
20 Feb 2020
Severe Paediatric Disorders v0.10
OCRL
Louise Daugherty Added phenotypes Dent disease 2, 300555; Lowe syndrome, 309000 for gene: OCRL
20 Feb 2020
Severe Paediatric Disorders v0.10
OCLN
Louise Daugherty Added phenotypes Pseudo-TORCH syndrome 1, 251290 for gene: OCLN
20 Feb 2020
Severe Paediatric Disorders v0.10
OCA2
Louise Daugherty Added phenotypes Albinism, oculocutaneous, type II, 203200; Albinism, brown oculocutaneous, 203200 for gene: OCA2
20 Feb 2020
Severe Paediatric Disorders v0.10
OBSL1
Louise Daugherty Added phenotypes 3-M syndrome 2, 612921 for gene: OBSL1
20 Feb 2020
Severe Paediatric Disorders v0.10
OAT
Louise Daugherty Added phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 for gene: OAT
20 Feb 2020
Severe Paediatric Disorders v0.10
NYX
Louise Daugherty Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked, 310500 for gene: NYX
20 Feb 2020
Severe Paediatric Disorders v0.10
NUS1
Louise Daugherty Added phenotypes ?Congenital disorder of glycosylation, type 1aa, 617082; Mental retardation, autosomal dominant 55, with seizures, 617831 for gene: NUS1
20 Feb 2020
Severe Paediatric Disorders v0.10
NUP93
Louise Daugherty Added phenotypes Nephrotic syndrome, type 12, 616892 for gene: NUP93
20 Feb 2020
Severe Paediatric Disorders v0.10
NUP107
Louise Daugherty Added phenotypes Nephrotic syndrome, type 11, 616730; ?Ovarian dysgenesis 6, 618078; Galloway-Mowat syndrome 7, 618348 for gene: NUP107
20 Feb 2020
Severe Paediatric Disorders v0.10
NUBPL
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 21, 618242 for gene: NUBPL
20 Feb 2020
Severe Paediatric Disorders v0.10
NTRK2
Louise Daugherty Added phenotypes Obesity, hyperphagia, and developmental delay, 613886; Epileptic encephalopathy, early infantile, 58, 617830 for gene: NTRK2
20 Feb 2020
Severe Paediatric Disorders v0.10
NTRK1
Louise Daugherty Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800; Medullary thyroid carcinoma, familial, 155240 for gene: NTRK1
20 Feb 2020
Severe Paediatric Disorders v0.10
NT5C3A
Louise Daugherty Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120 for gene: NT5C3A
20 Feb 2020
Severe Paediatric Disorders v0.10
NT5C2
Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
20 Feb 2020
Severe Paediatric Disorders v0.10
NSUN2
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 5, 611091 for gene: NSUN2
20 Feb 2020
Severe Paediatric Disorders v0.10
NSMCE3
Louise Daugherty Added phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 for gene: NSMCE3
20 Feb 2020
Severe Paediatric Disorders v0.10
NSDHL
Louise Daugherty Added phenotypes CK syndrome, 300831; CHILD syndrome, 308050 for gene: NSDHL
20 Feb 2020
Severe Paediatric Disorders v0.10
NSD2
Louise Daugherty Added phenotypes Wolf-Hirschhorn syndrome for gene: NSD2
20 Feb 2020
Severe Paediatric Disorders v0.10
NSD1
Louise Daugherty Added phenotypes Sotos syndrome 1, 117550; Leukemia, acute myeloid, 601626 for gene: NSD1
20 Feb 2020
Severe Paediatric Disorders v0.10
NRXN1
Louise Daugherty Added phenotypes Pitt-Hopkins-like syndrome 2, 614325 for gene: NRXN1
20 Feb 2020
Severe Paediatric Disorders v0.10
NRAS
Louise Daugherty Added phenotypes Noonan syndrome 6, 613224 for gene: NRAS
20 Feb 2020
Severe Paediatric Disorders v0.10
NR5A1
Louise Daugherty Added phenotypes Premature ovarian failure 7, 612964; 46, XX sex reversal 4, 617480; Spermatogenic failure 8, 613957; Adrenocortical insufficiency, 612964; 46XY sex reversal 3, 612965 for gene: NR5A1
20 Feb 2020
Severe Paediatric Disorders v0.10
NR2F2
Louise Daugherty Added phenotypes Congenital heart defects, multiple types, 4, 615779 for gene: NR2F2
20 Feb 2020
Severe Paediatric Disorders v0.10
NR2F1
Louise Daugherty Added phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 for gene: NR2F1
20 Feb 2020
Severe Paediatric Disorders v0.10
NR1H4
Louise Daugherty Added phenotypes Cholestasis, progressive familial intrahepatic, 5, 617049 for gene: NR1H4
20 Feb 2020
Severe Paediatric Disorders v0.10
NR0B1
Louise Daugherty Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018; Adrenal hypoplasia, congenital, 300200 for gene: NR0B1
20 Feb 2020
Severe Paediatric Disorders v0.10
NPRL3
Louise Daugherty Added phenotypes Epilepsy, familial focal, with variable foci 3, 617118 for gene: NPRL3
20 Feb 2020
Severe Paediatric Disorders v0.10
NPR2
Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHS2
Louise Daugherty Added phenotypes Nephrotic syndrome, type 2, 600995 for gene: NPHS2
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHS1
Louise Daugherty Added phenotypes Nephrotic syndrome, type 1, 256300 for gene: NPHS1
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHP4
Louise Daugherty Added phenotypes Nephronophthisis 4, 606966; Senior-Loken syndrome 4, 606996 for gene: NPHP4
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHP3
Louise Daugherty Added phenotypes Meckel syndrome 7, 267010; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540 for gene: NPHP3
20 Feb 2020
Severe Paediatric Disorders v0.10
NPHP1
Louise Daugherty Added phenotypes Nephronophthisis 1, juvenile, 256100; Senior-Loken syndrome-1, 266900; Joubert syndrome 4, 609583 for gene: NPHP1
20 Feb 2020
Severe Paediatric Disorders v0.10
NPC2
Louise Daugherty Added phenotypes Niemann-pick disease, type C2, 607625 for gene: NPC2
20 Feb 2020
Severe Paediatric Disorders v0.10
NPC1
Louise Daugherty Added phenotypes Niemann-Pick disease, type D, 257220; Niemann-Pick disease, type C1, 257220 for gene: NPC1
20 Feb 2020
Severe Paediatric Disorders v0.10
NOTCH3
Louise Daugherty Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Lateral meningocele syndrome, 130720; ?Myofibromatosis, infantile 2, 615293 for gene: NOTCH3
20 Feb 2020
Severe Paediatric Disorders v0.10
NOTCH2
Louise Daugherty Added phenotypes Alagille syndrome 2, 610205; Hajdu-Cheney syndrome, 102500 for gene: NOTCH2
20 Feb 2020
Severe Paediatric Disorders v0.10
NOTCH1
Louise Daugherty Added phenotypes Adams-Oliver syndrome 5, 616028; Aortic valve disease 1, 109730 for gene: NOTCH1
20 Feb 2020
Severe Paediatric Disorders v0.10
NOP56
Louise Daugherty Added phenotypes Spinocerebellar ataxia 36, 614153 for gene: NOP56
20 Feb 2020
Severe Paediatric Disorders v0.10
NOP10
Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 for gene: NOP10
20 Feb 2020
Severe Paediatric Disorders v0.10
NONO
Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic 34, 300967 for gene: NONO
20 Feb 2020
Severe Paediatric Disorders v0.10
NOG
Louise Daugherty Added phenotypes Tarsal-carpal coalition syndrome, 186570; Symphalangism, proximal, 1A, 185800; Brachydactyly, type B2, 611377; Stapes ankylosis with broad thumbs and toes, 184460; Multiple synostoses syndrome 1, 186500 for gene: NOG
20 Feb 2020
Severe Paediatric Disorders v0.10
NODAL
Louise Daugherty Added phenotypes Heterotaxy, visceral, 5, 270100 for gene: NODAL
20 Feb 2020
Severe Paediatric Disorders v0.10
NOD2
Louise Daugherty Added phenotypes Blau syndrome, 186580 for gene: NOD2
20 Feb 2020
Severe Paediatric Disorders v0.10
NMNAT1
Louise Daugherty Added phenotypes Leber congenital amaurosis 9, 608553 for gene: NMNAT1
20 Feb 2020
Severe Paediatric Disorders v0.10
NLRP3
Louise Daugherty Added phenotypes Keratoendothelitis fugax hereditaria, 148200; Deafness, autosomal dominant 34, with or without inflammation, 617772; CINCA syndrome, 607115; Familial cold inflammatory syndrome 1, 120100; Muckle-Wells syndrome, 191900 for gene: NLRP3
20 Feb 2020
Severe Paediatric Disorders v0.10
NLRP12
Louise Daugherty Added phenotypes Familial cold autoinflammatory syndrome 2, 611762 for gene: NLRP12
20 Feb 2020
Severe Paediatric Disorders v0.10
NLRC4
Louise Daugherty Added phenotypes Autoinflammation with infantile enterocolitis, 616050; ?Familial cold autoinflammatory syndrome 4, 616115 for gene: NLRC4
20 Feb 2020
Severe Paediatric Disorders v0.10
NLGN3
Louise Daugherty Added phenotypes {Autism susceptibility, X-linked 1}, 300425; {Asperger syndrome susceptibility, X-linked 1}, 300494 for gene: NLGN3
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX6-2
Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX3-2
Louise Daugherty Added phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 for gene: NKX3-2
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX2-5
Louise Daugherty Added phenotypes Tetralogy of Fallot, 187500; Conotruncal heart malformations, variable, 217095; Ventricular septal defect 3, 614432; Hypothyroidism, congenital nongoitrous, 5, 225250; Hypoplastic left heart syndrome 2, 614435; Atrial septal defect 7, with or without AV conduction defects, 108900 for gene: NKX2-5
20 Feb 2020
Severe Paediatric Disorders v0.10
NKX2-1
Louise Daugherty Added phenotypes Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 for gene: NKX2-1
20 Feb 2020
Severe Paediatric Disorders v0.10
NIPBL
Louise Daugherty Added phenotypes Cornelia de Lange syndrome 1, 122470 for gene: NIPBL
20 Feb 2020
Severe Paediatric Disorders v0.10
NIPAL4
Louise Daugherty Added phenotypes Ichthyosis, congenital, autosomal recessive 6, 612281 for gene: NIPAL4
20 Feb 2020
Severe Paediatric Disorders v0.10
NIPA1
Louise Daugherty Added phenotypes Spastic paraplegia 6, autosomal dominant, 600363 for gene: NIPA1
20 Feb 2020
Severe Paediatric Disorders v0.10
NHS
Louise Daugherty Added phenotypes Nance-Horan syndrome, 302350; Cataract 40, X-linked, 302200 for gene: NHS
20 Feb 2020
Severe Paediatric Disorders v0.10
NHP2
Louise Daugherty Added phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 for gene: NHP2
20 Feb 2020
Severe Paediatric Disorders v0.10
NHLRC1
Louise Daugherty Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora), 254780 for gene: NHLRC1
20 Feb 2020
Severe Paediatric Disorders v0.10
NHEJ1
Louise Daugherty Added phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 for gene: NHEJ1
20 Feb 2020
Severe Paediatric Disorders v0.10
NGLY1
Louise Daugherty Added phenotypes Congenital disorder of deglycosylation, 615273 for gene: NGLY1
20 Feb 2020
Severe Paediatric Disorders v0.10
NFU1
Louise Daugherty Added phenotypes Multiple mitochondrial dysfunctions syndrome 1, 605711 for gene: NFU1
20 Feb 2020
Severe Paediatric Disorders v0.10
NFKBIA
Louise Daugherty Added phenotypes Ectodermal dysplasia and immunodeficiency 2, 612132 for gene: NFKBIA
20 Feb 2020
Severe Paediatric Disorders v0.10
NFKB2
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 10, 615577 for gene: NFKB2
20 Feb 2020
Severe Paediatric Disorders v0.10
NFKB1
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 12, 616576 for gene: NFKB1
20 Feb 2020
Severe Paediatric Disorders v0.10
NFIX
Louise Daugherty Added phenotypes Sotos syndrome 2, 614753; Marshall-Smith syndrome, 602535 for gene: NFIX
20 Feb 2020
Severe Paediatric Disorders v0.10
NFIA
Louise Daugherty Added phenotypes Brain malformations with or without urinary tract defects, 613735 for gene: NFIA
20 Feb 2020
Severe Paediatric Disorders v0.10
NFE2L2
Louise Daugherty Added phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 for gene: NFE2L2
20 Feb 2020
Severe Paediatric Disorders v0.10
NFASC
Louise Daugherty Added phenotypes Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 for gene: NFASC
20 Feb 2020
Severe Paediatric Disorders v0.10
NF2
Louise Daugherty Added phenotypes Neurofibromatosis, type 2, 101000 for gene: NF2
20 Feb 2020
Severe Paediatric Disorders v0.10
NF1
Louise Daugherty Added phenotypes Watson syndrome, 193520; Neurofibromatosis-Noonan syndrome, 601321; Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210; Leukemia, juvenile myelomonocytic, 607785 for gene: NF1
20 Feb 2020
Severe Paediatric Disorders v0.10
NEXMIF
Louise Daugherty Added phenotypes Mental retardation, X-linked 98, 300912 for gene: NEXMIF
20 Feb 2020
Severe Paediatric Disorders v0.10
NEU1
Louise Daugherty Added phenotypes Sialidosis, type I, 256550; Sialidosis, type II, 256550 for gene: NEU1
20 Feb 2020
Severe Paediatric Disorders v0.10
NEK8
Louise Daugherty Added phenotypes Renal-hepatic-pancreatic dysplasia 2, 615415; ?Nephronophthisis 9, 613824 for gene: NEK8
20 Feb 2020
Severe Paediatric Disorders v0.10
NEK1
Louise Daugherty Added phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 for gene: NEK1
20 Feb 2020
Severe Paediatric Disorders v0.10
NEFL
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882; Charcot-Marie-Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, type 1F, 607734 for gene: NEFL
20 Feb 2020
Severe Paediatric Disorders v0.10
NEFH
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 for gene: NEFH
20 Feb 2020
Severe Paediatric Disorders v0.10
NEDD4L
Louise Daugherty Added phenotypes Periventricular nodular heterotopia 7, 617201 for gene: NEDD4L
20 Feb 2020
Severe Paediatric Disorders v0.10
NECTIN4
Louise Daugherty Added phenotypes Ectodermal dysplasia-syndactyly syndrome 1, 613573 for gene: NECTIN4
20 Feb 2020
Severe Paediatric Disorders v0.10
NECTIN1
Louise Daugherty Added phenotypes Orofacial cleft 7, 225060; Cleft lip/palate-ectodermal dysplasia syndrome, 225060 for gene: NECTIN1
20 Feb 2020
Severe Paediatric Disorders v0.10
NEB
Louise Daugherty Added phenotypes Nemaline myopathy 2, autosomal recessive, 256030 for gene: NEB
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFV2
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 7, 618229 for gene: NDUFV2
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFV1
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 4, 618225 for gene: NDUFV1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS8
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 2, 618222 for gene: NDUFS8
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS7
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 3, 618224 for gene: NDUFS7
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS6
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 9, 618232 for gene: NDUFS6
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS4
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 1, 252010 for gene: NDUFS4
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS3
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 for gene: NDUFS3
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS2
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 6, 618228 for gene: NDUFS2
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFS1
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226 for gene: NDUFS1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFB8
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFB3
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 25, 618246 for gene: NDUFB3
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFB11
Louise Daugherty Added phenotypes Linear skin defects with multiple congenital anomalies 3, 300952; ?Mitochondrial complex I deficiency, nuclear type 30, 301021 for gene: NDUFB11
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF8
Louise Daugherty Added phenotypes Mitochondrial for gene: NDUFAF8
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF6
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 17, 618239 for gene: NDUFAF6
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF5
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 16, 618238 for gene: NDUFAF5
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF4
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 15, 618237 for gene: NDUFAF4
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF3
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 18, 618240 for gene: NDUFAF3
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF2
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 10, 618233 for gene: NDUFAF2
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFAF1
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 11, 618234 for gene: NDUFAF1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA9
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA6
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA4
Louise Daugherty Added phenotypes Isolated complex IV deficiency for gene: NDUFA4
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA11
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 14, 618236 for gene: NDUFA11
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA10
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 22, 618243 for gene: NDUFA10
20 Feb 2020
Severe Paediatric Disorders v0.10
NDUFA1
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 12, 301020 for gene: NDUFA1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDST1
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 46, 616116 for gene: NDST1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDRG1
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 for gene: NDRG1
20 Feb 2020
Severe Paediatric Disorders v0.10
NDP
Louise Daugherty Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP
20 Feb 2020
Severe Paediatric Disorders v0.10
NDE1
Louise Daugherty Added phenotypes Lissencephaly 4 (with microcephaly), 614019; ?Microhydranencephaly, 605013 for gene: NDE1
20 Feb 2020
Severe Paediatric Disorders v0.10
NCF2
Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-2, 233710 for gene: NCF2
20 Feb 2020
Severe Paediatric Disorders v0.10
NCF1
Louise Daugherty Added phenotypes Chronic granulomatous disease due to deficiency of NCF-1, 233700 for gene: NCF1
20 Feb 2020
Severe Paediatric Disorders v0.10
NBN
Louise Daugherty Added phenotypes Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260; Aplastic anemia, 609135 for gene: NBN
20 Feb 2020
Severe Paediatric Disorders v0.10
NBEAL2
Louise Daugherty Added phenotypes Gray platelet syndrome, 139090 for gene: NBEAL2
20 Feb 2020
Severe Paediatric Disorders v0.10
NBEA
Louise Daugherty Added phenotypes Seizures; Global developmental delay; Intellectual disability for gene: NBEA
20 Feb 2020
Severe Paediatric Disorders v0.10
NBAS
Louise Daugherty Added phenotypes Infantile liver failure syndrome 2, 616483; Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 for gene: NBAS
20 Feb 2020
Severe Paediatric Disorders v0.10
NAXE
Louise Daugherty Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 for gene: NAXE
20 Feb 2020
Severe Paediatric Disorders v0.10
NARS2
Louise Daugherty Added phenotypes ?Deafness, autosomal recessive 94, 618434; Combined oxidative phosphorylation deficiency 24, 616239 for gene: NARS2
20 Feb 2020
Severe Paediatric Disorders v0.10
NANS
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 for gene: NANS
20 Feb 2020
Severe Paediatric Disorders v0.10
NALCN
Louise Daugherty Added phenotypes Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 for gene: NALCN
20 Feb 2020
Severe Paediatric Disorders v0.10
NAGS
Louise Daugherty Added phenotypes N-acetylglutamate synthase deficiency, 237310 for gene: NAGS
20 Feb 2020
Severe Paediatric Disorders v0.10
NAGLU
Louise Daugherty Added phenotypes ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 for gene: NAGLU
20 Feb 2020
Severe Paediatric Disorders v0.10
NAGA
Louise Daugherty Added phenotypes Kanzaki disease, 609242; Schindler disease, type III, 609241; Schindler disease, type I, 609241 for gene: NAGA
20 Feb 2020
Severe Paediatric Disorders v0.10
NACC1
Louise Daugherty Added phenotypes Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 for gene: NACC1
20 Feb 2020
Severe Paediatric Disorders v0.10
NAA15
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 50, 617787 for gene: NAA15
20 Feb 2020
Severe Paediatric Disorders v0.10
NAA10
Louise Daugherty Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10
20 Feb 2020
Severe Paediatric Disorders v0.10
MYT1L
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 39, 616521 for gene: MYT1L
20 Feb 2020
Severe Paediatric Disorders v0.10
MYT1
Louise Daugherty Added phenotypes OAVS/Goldenhar syndrome; Oculo-auriculo-vertebral spectrum (OAVS) for gene: MYT1
20 Feb 2020
Severe Paediatric Disorders v0.10
MYSM1
Louise Daugherty Added phenotypes Bone marrow failure syndrome 4, 618116 for gene: MYSM1
20 Feb 2020
Severe Paediatric Disorders v0.10
MYRF
Louise Daugherty Added phenotypes Cardiac-urogenital syndrome, 618280; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 for gene: MYRF
20 Feb 2020
Severe Paediatric Disorders v0.10
MYOT
Louise Daugherty Added phenotypes Myopathy, spheroid body, 182920; Myopathy, myofibrillar, 3, 609200 for gene: MYOT
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO7A
Louise Daugherty Added phenotypes Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317; Deafness, autosomal recessive 2, 600060 for gene: MYO7A
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO6
Louise Daugherty Added phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346; Deafness, autosomal dominant 22, 606346; Deafness, autosomal recessive 37, 607821 for gene: MYO6
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO5B
Louise Daugherty Added phenotypes Microvillus inclusion disease, 251850 for gene: MYO5B
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO5A
Louise Daugherty Added phenotypes Griscelli syndrome, type 1, 214450 for gene: MYO5A
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO3A
Louise Daugherty Added phenotypes Deafness, autosomal recessive 30, 607101 for gene: MYO3A
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO1E
Louise Daugherty Added phenotypes Glomerulosclerosis, focal segmental, 6, 614131 for gene: MYO1E
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO18B
Louise Daugherty Added phenotypes Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 for gene: MYO18B
20 Feb 2020
Severe Paediatric Disorders v0.10
MYO15A
Louise Daugherty Added phenotypes Deafness, autosomal recessive 3, 600316 for gene: MYO15A
20 Feb 2020
Severe Paediatric Disorders v0.10
MYMK
Louise Daugherty Added phenotypes Carey-Fineman-Ziter syndrome, 254940 for gene: MYMK
20 Feb 2020
Severe Paediatric Disorders v0.10
MYL1
Louise Daugherty Added phenotypes Myopathy, congenital, with fast-twitch (type II) fiber atrophy, 618414 for gene: MYL1
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH9
Louise Daugherty Added phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100; Deafness, autosomal dominant 17, 603622 for gene: MYH9
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH8
Louise Daugherty Added phenotypes Carney complex variant, 608837; Trismus-pseudocamptodactyly syndrome, 158300 for gene: MYH8
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH7
Louise Daugherty Added phenotypes Laing distal myopathy, 160500; Myopathy, myosin storage, autosomal dominant, 608358; Myopathy, myosin storage, autosomal recessive, 255160; Cardiomyopathy, hypertrophic, 1, 192600; Left ventricular noncompaction 5, 613426; Scapuloperoneal syndrome, myopathic type, 181430; Cardiomyopathy, dilated, 1S, 613426 for gene: MYH7
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH6
Louise Daugherty Added phenotypes Cardiomyopathy, hypertrophic, 14, 613251; Cardiomyopathy, dilated, 1EE, 613252; Atrial septal defect 3, 614089 for gene: MYH6
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH3
Louise Daugherty Added phenotypes Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436; Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700; Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110 for gene: MYH3
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH2
Louise Daugherty Added phenotypes Proximal myopathy and ophthalmoplegia, 605637 for gene: MYH2
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH14
Louise Daugherty Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; Deafness, autosomal dominant 4A, 600652 for gene: MYH14
20 Feb 2020
Severe Paediatric Disorders v0.10
MYH10
Louise Daugherty Added phenotypes aqueductal stenosis; MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly for gene: MYH10
20 Feb 2020
Severe Paediatric Disorders v0.10
MYD88
Louise Daugherty Added phenotypes Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 for gene: MYD88
20 Feb 2020
Severe Paediatric Disorders v0.10
MYCN
Louise Daugherty Added phenotypes Feingold syndrome 1, 164280 for gene: MYCN
20 Feb 2020
Severe Paediatric Disorders v0.10
MYBPC1
Louise Daugherty Added phenotypes Arthrogryposis, distal, type 1B, 614335; Lethal congenital contracture syndrome 4, 614915; Myopathy, congenital, with tremor, 618524 for gene: MYBPC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MVK
Louise Daugherty Added phenotypes Hyper-IgD syndrome, 260920; Porokeratosis 3, multiple types, 175900; Mevalonic aciduria, 610377 for gene: MVK
20 Feb 2020
Severe Paediatric Disorders v0.10
MUSK
Louise Daugherty Added phenotypes Fetal akinesia deformation sequence 1, 208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 for gene: MUSK
20 Feb 2020
Severe Paediatric Disorders v0.10
MUC1
Louise Daugherty Added phenotypes Medullary cystic kidney disease 1, 174000 for gene: MUC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MTTP
Louise Daugherty Added phenotypes Abetalipoproteinemia, 200100 for gene: MTTP
20 Feb 2020
Severe Paediatric Disorders v0.10
MTRR
Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 for gene: MTRR
20 Feb 2020
Severe Paediatric Disorders v0.10
MTR
Louise Daugherty Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 for gene: MTR
20 Feb 2020
Severe Paediatric Disorders v0.10
MTOR
Louise Daugherty Added phenotypes Smith-Kingsmore syndrome, 616638 for gene: MTOR
20 Feb 2020
Severe Paediatric Disorders v0.10
MTO1
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 10, 614702 for gene: MTO1
20 Feb 2020
Severe Paediatric Disorders v0.10
MTMR2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 for gene: MTMR2
20 Feb 2020
Severe Paediatric Disorders v0.10
MTM1
Louise Daugherty Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
20 Feb 2020
Severe Paediatric Disorders v0.10
MTHFR
Louise Daugherty Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
20 Feb 2020
Severe Paediatric Disorders v0.10
MTHFD1
Louise Daugherty Added phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 for gene: MTHFD1
20 Feb 2020
Severe Paediatric Disorders v0.10
MTFMT
Louise Daugherty Added phenotypes Mitochondrial complex I deficiency, nuclear type 27, 618248; Combined oxidative phosphorylation deficiency 15, 614947 for gene: MTFMT
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TY
Louise Daugherty Added phenotypes FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOPATHY, SOMATIC; EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC for gene: MT-TY
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TW
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOPATHY, MITOCHONDRIAL; NEUROGASTROINTESTINAL SYNDROME, MITOCHONDRIAL; ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TW
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TV
Louise Daugherty Added phenotypes ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS; NEONATAL DEATH for gene: MT-TV
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TS2
Louise Daugherty Added phenotypes CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS2
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TS1
Louise Daugherty Added phenotypes MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY; KERATODERMA, PALMOPLANTAR, WITH DEAFNESS; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TS1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TR
Louise Daugherty Added phenotypes ENCEPHALOMYOPATHY, MITOCHONDRIAL for gene: MT-TR
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TQ
Louise Daugherty Added phenotypes MYOPATHY; SENSORINEURAL DEAFNESS AND MIGRAINE; MELAS SYNDROME for gene: MT-TQ
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TP
Louise Daugherty Added phenotypes MYOPATHY; MERFF SYNDROME for gene: MT-TP
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TN
Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2; OPHTHALMOPLEGIA, ISOLATED for gene: MT-TN
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TM
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL for gene: MT-TM
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TL2
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL; ENCEPHALOMYOPATHY, MITOCHONDRIAL; CARDIOMYOPATHY, MITOCHONDRIAL for gene: MT-TL2
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TL1
Louise Daugherty Added phenotypes MELAS SYNDROME for gene: MT-TL1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TK
Louise Daugherty Added phenotypes DIABETES AND DEAFNESS, MATERNALLY INHERITED; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS; MERRF SYNDROME; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY SYNDROME for gene: MT-TK
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TI
Louise Daugherty Added phenotypes CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; HYPERTENSION, HYPERCHOLESTEROLEMIA, AND HYPOMAGNESEMIA, MITOCHONDRIAL; ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING; CARDIOMYOPATHY, FATAL; CARDIOMYOPATHY, FATAL INFANTILE; MULTISYSTEM DISORDER for gene: MT-TI
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TH
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS; CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL; MERRF/MELAS OVERLAP SYNDROME for gene: MT-TH
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TG
Louise Daugherty Added phenotypes EXERCISE INTOLERANCE; CARDIOMYOPATHY, HYPERTROPHIC; SUDDEN DEATH for gene: MT-TG
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TF
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, LATE-ONSET; EPILEPSY, MITOCHONDRIAL; NEPHROPATHY, TUBULOINTERSTITIAL; ENCEPHALOPATHY, MITOCHONDRIAL; MELAS SYNDROME; MERRF SYNDROME for gene: MT-TF
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TE
Louise Daugherty Added phenotypes MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; DIABETES AND DEAFNESS, MATERNALLY INHERITED for gene: MT-TE
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TD
Louise Daugherty Added phenotypes MITOCHONDRIAL MYOPATHY, ISOLATED for gene: MT-TD
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TC
Louise Daugherty Added phenotypes DYSTONIA, MITOCHONDRIAL; MELAS SYNDROME for gene: MT-TC
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-TA
Louise Daugherty Added phenotypes MYOTONIC DYSTROPHY-LIKE MYOPATHY; MITOCHONDRIAL MYOPATHY for gene: MT-TA
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-RNR1
Louise Daugherty Added phenotypes DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL; CARDIOMYOPATHY, RESTRICTIVE; DEAFNESS, AMINOGLYCOSIDE-INDUCED; AUDITORY NEUROPATHY for gene: MT-RNR1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND6
Louise Daugherty Added phenotypes LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA for gene: MT-ND6
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND5
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; MERRF SYNDROME; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS SYNDROME for gene: MT-ND5
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND4L
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY for gene: MT-ND4L
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND4
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS SYNDROME for gene: MT-ND4
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND3
Louise Daugherty Added phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND3
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND2
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND2
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ND1
Louise Daugherty Added phenotypes MELAS; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY; ALZHEIMER DISEASE; SIDS; DYSTONIA, ADULT-ONSET for gene: MT-ND1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-CYB
Louise Daugherty Added phenotypes PARKINSONISM/MELAS OVERLAP SYNDROME; CARDIOMYOPATHY, INFANTILE HISTIOCYTOID; LEBER OPTIC ATROPHY; EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA; EXERCISE INTOLERANCE; ENCEPHALOMYOPATHY, MITOCHONDRIAL; MULTISYSTEM DISORDER for gene: MT-CYB
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-CO3
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; SEIZURES AND LACTIC ACIDOSIS; MITOCHONDRIAL COMPLEX IV DEFICIENCY for gene: MT-CO3
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-CO2
Louise Daugherty Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-CO1
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; CYTOCHROME c OXIDASE DEFICIENCY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC for gene: MT-CO1
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ATP8
Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
20 Feb 2020
Severe Paediatric Disorders v0.10
MT-ATP6
Louise Daugherty Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6
20 Feb 2020
Severe Paediatric Disorders v0.10
MSX2
Louise Daugherty Added phenotypes Parietal foramina with cleidocranial dysplasia, 168550; Craniosynostosis 2, 604757; Parietal foramina 1, 168500 for gene: MSX2
20 Feb 2020
Severe Paediatric Disorders v0.10
MSX1
Louise Daugherty Added phenotypes Tooth agenesis, selective, 1, with or without orofacial cleft, 106600; Ectodermal dysplasia 3, Witkop type, 189500; Orofacial cleft 5, 608874 for gene: MSX1
20 Feb 2020
Severe Paediatric Disorders v0.10
MSTO1
Louise Daugherty Added phenotypes Myopathy, mitochondrial, and ataxia, 617675 for gene: MSTO1
20 Feb 2020
Severe Paediatric Disorders v0.10
MSN
Louise Daugherty Added phenotypes Immunodeficiency 50, 300988 for gene: MSN
20 Feb 2020
Severe Paediatric Disorders v0.10
MSMO1
Louise Daugherty Added phenotypes Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 for gene: MSMO1
20 Feb 2020
Severe Paediatric Disorders v0.10
MSL3
Louise Daugherty Added phenotypes Mental retardation, X-linked, syndromic, 36, 301032 for gene: MSL3
20 Feb 2020
Severe Paediatric Disorders v0.10
MSH6
Louise Daugherty Added phenotypes Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 5, 614350 for gene: MSH6
20 Feb 2020
Severe Paediatric Disorders v0.10
MS4A1
Louise Daugherty Added phenotypes Immunodeficiency, common variable, 5, 613495 for gene: MS4A1
20 Feb 2020
Severe Paediatric Disorders v0.10
MRPS34
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 32, 617664 for gene: MRPS34
20 Feb 2020
Severe Paediatric Disorders v0.10
MRPS22
Louise Daugherty Added phenotypes Ovarian dysgenesis 7, 618117; Combined oxidative phosphorylation deficiency 5, 611719 for gene: MRPS22
20 Feb 2020
Severe Paediatric Disorders v0.10
MRPS2
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 36, 617950 for gene: MRPS2
20 Feb 2020
Severe Paediatric Disorders v0.10
MRPL3
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
20 Feb 2020
Severe Paediatric Disorders v0.10
MRE11
Louise Daugherty Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11
20 Feb 2020
Severe Paediatric Disorders v0.10
MPZ
Louise Daugherty Added phenotypes Dejerine-Sottas disease, 145900; Charcot-Marie-Tooth disease, type 2I, 607677; Charcot-Marie-Tooth disease, type 2J, 607736; Roussy-Levy syndrome, 180800; Charcot-Marie-Tooth disease, type 1B, 118200; Hypomyelinating neuropathy, congenital, 2, 618184; Charcot-Marie-Tooth disease, dominant intermediate D, 607791 for gene: MPZ
20 Feb 2020
Severe Paediatric Disorders v0.10
MPV17
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 for gene: MPV17
20 Feb 2020
Severe Paediatric Disorders v0.10
MPO
Louise Daugherty Added phenotypes Myeloperoxidase deficiency, 254600 for gene: MPO
20 Feb 2020
Severe Paediatric Disorders v0.10
MPLKIP
Louise Daugherty Added phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 for gene: MPLKIP
20 Feb 2020
Severe Paediatric Disorders v0.10
MPL
Louise Daugherty Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498; Thrombocythemia 2, 601977 for gene: MPL
20 Feb 2020
Severe Paediatric Disorders v0.10
MPIG6B
Louise Daugherty Added phenotypes Thrombocytopenia, anemia, and myelofibrosis, 617441 for gene: MPIG6B
20 Feb 2020
Severe Paediatric Disorders v0.10
MPI
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 for gene: MPI
20 Feb 2020
Severe Paediatric Disorders v0.10
MPDU1
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type If, 609180 for gene: MPDU1
20 Feb 2020
Severe Paediatric Disorders v0.10
MPC1
Louise Daugherty Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MORC2
Louise Daugherty Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 for gene: MORC2
20 Feb 2020
Severe Paediatric Disorders v0.10
MOGS
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIb, 606056 for gene: MOGS
20 Feb 2020
Severe Paediatric Disorders v0.10
MOCS2
Louise Daugherty Added phenotypes Molybdenum cofactor deficiency B, 252160 for gene: MOCS2
20 Feb 2020
Severe Paediatric Disorders v0.10
MOCS1
Louise Daugherty Added phenotypes Molybdenum cofactor deficiency A, 252150 for gene: MOCS1
20 Feb 2020
Severe Paediatric Disorders v0.10
MNX1
Louise Daugherty Added phenotypes Currarino syndrome, 176450 for gene: MNX1
20 Feb 2020
Severe Paediatric Disorders v0.10
MUT
Louise Daugherty Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 for gene: MUT
20 Feb 2020
Severe Paediatric Disorders v0.10
MMP21
Louise Daugherty Added phenotypes Heterotaxy, visceral, 7, autosomal, 616749 for gene: MMP21
20 Feb 2020
Severe Paediatric Disorders v0.10
MMP2
Louise Daugherty Added phenotypes Multicentric osteolysis, nodulosis, and arthropathy, 259600 for gene: MMP2
20 Feb 2020
Severe Paediatric Disorders v0.10
MMP13
Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, Missouri type, 602111; Metaphyseal dysplasia, Spahr type, 250400; Metaphyseal anadysplasia 1, 602111 for gene: MMP13
20 Feb 2020
Severe Paediatric Disorders v0.10
MMADHC
Louise Daugherty Added phenotypes Homocystinuria, cblD type, variant 1, 277410; Methylmalonic aciduria, cblD type, variant 2, 277410; Methylmalonic aciduria and homocystinuria, cblD type, 277410 for gene: MMADHC
20 Feb 2020
Severe Paediatric Disorders v0.10
MMACHC
Louise Daugherty Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 for gene: MMACHC
20 Feb 2020
Severe Paediatric Disorders v0.10
MMAB
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 for gene: MMAB
20 Feb 2020
Severe Paediatric Disorders v0.10
MMAA
Louise Daugherty Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 for gene: MMAA
20 Feb 2020
Severe Paediatric Disorders v0.10
MLYCD
Louise Daugherty Added phenotypes Malonyl-CoA decarboxylase deficiency, 248360 for gene: MLYCD
20 Feb 2020
Severe Paediatric Disorders v0.10
MLC1
Louise Daugherty Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 for gene: MLC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MKS1
Louise Daugherty Added phenotypes Bardet-Biedl syndrome 13, 615990; Joubert syndrome 28, 617121; Meckel syndrome 1, 249000 for gene: MKS1
20 Feb 2020
Severe Paediatric Disorders v0.10
MKKS
Louise Daugherty Added phenotypes McKusick-Kaufman syndrome, 236700; Bardet-Biedl syndrome 6, 605231 for gene: MKKS
20 Feb 2020
Severe Paediatric Disorders v0.10
MITF
Louise Daugherty Added phenotypes Waardenburg syndrome/ocular albinism, digenic, 103470; Tietz albinism-deafness syndrome, 103500; COMMAD syndrome, 617306; Waardenburg syndrome, type 2A, 193510 for gene: MITF
20 Feb 2020
Severe Paediatric Disorders v0.10
MIPEP
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 31, 617228 for gene: MIPEP
20 Feb 2020
Severe Paediatric Disorders v0.10
MID1
Louise Daugherty Added phenotypes Opitz GBBB syndrome, type I, 300000 for gene: MID1
20 Feb 2020
Severe Paediatric Disorders v0.10
MICU1
Louise Daugherty Added phenotypes Myopathy with extrapyramidal signs, 615673 for gene: MICU1
20 Feb 2020
Severe Paediatric Disorders v0.10
C19orf70
Louise Daugherty Added phenotypes Combined oxidative phosphorylation deficiency 37, 618329 for gene: C19orf70
20 Feb 2020
Severe Paediatric Disorders v0.10
MGP
Louise Daugherty Added phenotypes Keutel syndrome, 245150 for gene: MGP
20 Feb 2020
Severe Paediatric Disorders v0.10
MGME1
Louise Daugherty Added phenotypes Mitochondrial DNA depletion syndrome 11, 615084 for gene: MGME1
20 Feb 2020
Severe Paediatric Disorders v0.10
MGAT2
Louise Daugherty Added phenotypes Congenital disorder of glycosylation, type IIa, 212066 for gene: MGAT2
20 Feb 2020
Severe Paediatric Disorders v0.10
MFSD8
Louise Daugherty Added phenotypes Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170 for gene: MFSD8
20 Feb 2020
Severe Paediatric Disorders v0.10
MFSD2A
Louise Daugherty Added phenotypes Microcephaly 15, primary, autosomal recessive, 616486 for gene: MFSD2A
20 Feb 2020
Severe Paediatric Disorders v0.10
MFRP
Louise Daugherty Added phenotypes Microphthalmia, isolated 5, 611040; Nanophthalmos 2, 609549 for gene: MFRP
20 Feb 2020
Severe Paediatric Disorders v0.10
MFN2
Louise Daugherty Added phenotypes Hereditary motor and sensory neuropathy VIA, 601152; Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 for gene: MFN2
20 Feb 2020
Severe Paediatric Disorders v0.10
MFF
Louise Daugherty Added phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 for gene: MFF
20 Feb 2020
Severe Paediatric Disorders v0.10
METTL23
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 44, 615942 for gene: METTL23
20 Feb 2020
Severe Paediatric Disorders v0.10
MESP2
Louise Daugherty Added phenotypes Spondylocostal dysostosis 2, autosomal recessive, 608681 for gene: MESP2
20 Feb 2020
Severe Paediatric Disorders v0.10
MEOX1
Louise Daugherty Added phenotypes Klippel-Feil syndrome 2, 214300 for gene: MEOX1
20 Feb 2020
Severe Paediatric Disorders v0.10
MEIS2
Louise Daugherty Added phenotypes Cleft palate, cardiac defects, and mental retardation, 600987 for gene: MEIS2
20 Feb 2020
Severe Paediatric Disorders v0.10
MEGF8
Louise Daugherty Added phenotypes Carpenter syndrome 2, 614976 for gene: MEGF8
20 Feb 2020
Severe Paediatric Disorders v0.10
MEGF10
Louise Daugherty Added phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 for gene: MEGF10
20 Feb 2020
Severe Paediatric Disorders v0.10
MEFV
Louise Daugherty Added phenotypes Familial Mediterranean fever, AD, 134610; Familial Mediterranean fever, AR, 249100 for gene: MEFV
20 Feb 2020
Severe Paediatric Disorders v0.10
MEF2C
Louise Daugherty Added phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Chromosome 5q14.3 deletion syndrome, 613443 for gene: MEF2C
20 Feb 2020
Severe Paediatric Disorders v0.10
MED23
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 18, 614249 for gene: MED23
20 Feb 2020
Severe Paediatric Disorders v0.10
MED17
Louise Daugherty Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 for gene: MED17
20 Feb 2020
Severe Paediatric Disorders v0.10
MED13L
Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L
20 Feb 2020
Severe Paediatric Disorders v0.10
MED12
Louise Daugherty Added phenotypes Ohdo syndrome, X-linked, 300895; Opitz-Kaveggia syndrome, 305450; Lujan-Fryns syndrome, 309520 for gene: MED12
20 Feb 2020
Severe Paediatric Disorders v0.10
MECR
Louise Daugherty Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 for gene: MECR
20 Feb 2020
Severe Paediatric Disorders v0.10
MECP2
Louise Daugherty Added phenotypes Rett syndrome, 312750; Mental retardation, X-linked syndromic, Lubs type, 300260; Rett syndrome, atypical, 312750; Rett syndrome, preserved speech variant, 312750; Encephalopathy, neonatal severe, 300673; Mental retardation, X-linked, syndromic 13, 300055 for gene: MECP2
20 Feb 2020
Severe Paediatric Disorders v0.10
MECOM
Louise Daugherty Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 for gene: MECOM
20 Feb 2020
Severe Paediatric Disorders v0.10
MDH2
Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 51, 617339 for gene: MDH2
20 Feb 2020
Severe Paediatric Disorders v0.10
MCPH1
Louise Daugherty Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 for gene: MCPH1
20 Feb 2020
Severe Paediatric Disorders v0.10
MCOLN1
Louise Daugherty Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
20 Feb 2020
Severe Paediatric Disorders v0.10
MCM4
Louise Daugherty Added phenotypes Immunodeficiency 54, 609981 for gene: MCM4
20 Feb 2020
Severe Paediatric Disorders v0.10
MCM3AP
Louise Daugherty Added phenotypes Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124 for gene: MCM3AP
20 Feb 2020
Severe Paediatric Disorders v0.10
MCFD2
Louise Daugherty Added phenotypes Factor V and factor VIII, combined deficiency of, 613625 for gene: MCFD2
20 Feb 2020
Severe Paediatric Disorders v0.10
MCEE
Louise Daugherty Added phenotypes Methylmalonyl-CoA epimerase deficiency, 251120 for gene: MCEE
20 Feb 2020
Severe Paediatric Disorders v0.10
MCCC2
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 for gene: MCCC2
20 Feb 2020
Severe Paediatric Disorders v0.10
MCCC1
Louise Daugherty Added phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 for gene: MCCC1
20 Feb 2020
Severe Paediatric Disorders v0.10
MC2R
Louise Daugherty Added phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 for gene: MC2R
20 Feb 2020
Severe Paediatric Disorders v0.10
MBTPS2
Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2
20 Feb 2020
Severe Paediatric Disorders v0.10
MBOAT7
Louise Daugherty Added phenotypes Mental retardation, autosomal recessive 57, 617188 for gene: MBOAT7
20 Feb 2020
Severe Paediatric Disorders v0.10
MBD5
Louise Daugherty Added phenotypes Mental retardation, autosomal dominant 1, 156200 for gene: MBD5
20 Feb 2020
Severe Paediatric Disorders v0.10
MATR3
Louise Daugherty Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
20 Feb 2020
Severe Paediatric Disorders v0.10
MATN3
Louise Daugherty Added phenotypes Epiphyseal dysplasia, multiple, 5, 607078; ?Spondyloepimetaphyseal dysplasia, 608728 for gene: MATN3
20 Feb 2020
Severe Paediatric Disorders v0.10
MAT1A
Louise Daugherty Added phenotypes Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 for gene: MAT1A
20 Feb 2020
Severe Paediatric Disorders v0.10
MAST1
Louise Daugherty Added phenotypes Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 for gene: MAST1