- Analytes
- RPS28
RPS28
Name: |
ribosomal protein S28
|
Symbol: |
RPS28
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
40S ribosomal protein S28
S28
eS28
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XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
-
Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACBD5 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ACTB 99.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ACTG1 99.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ALG9 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ALX1 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ALX3 94.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) AMER1 99.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ANKRD11 97.83 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ARCN1 95.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ARHGAP29 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ARHGAP31 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ASXL1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ATR 98.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ATRX 95.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B3GALT6 73.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B3GLCT 95.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B3GAT3 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) B4GALT7 93.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BCOR 97.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BMP2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BMP4 98.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BUB1B 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) C2CD3 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CPLANE1 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CANT1 98.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CASK 95.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CC2D2A 98.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CDC45 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CDH1 96.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CDKN1C 84.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHD1 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHD7 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHRNG 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHST14 97.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CHSY1 93.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CKAP2L 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL11A1 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL11A2 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL2A1 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL9A1 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL9A2 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COL9A3 94.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COLEC10 98.49 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) COLEC11 99.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CTCF 98.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CTNND1 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DDX3X 94.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DDX59 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DHCR7 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DHODH 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DIS3L2 98.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DLG1 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DLL4 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DLX4 98.90 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DNMT3B 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DOCK6 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DVL1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DVL3 98.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2H1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2LI1 98.39 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EBP 98.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EDN1 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EDNRA 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EFNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EFTUD2 97.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EIF2S3 97.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EIF4A3 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EOGT 89.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EPG5 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SELENOI 98.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ESCO2 97.31 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ESRP2 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) EYA1 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FAM111A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FAM20C 95.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FANCL 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FBXO11 97.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FGD1 95.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FGFR1 98.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FGFR2 99.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FLNA 98.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FLNB 98.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FOXC2 91.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FOXE1 85.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FOXP2 98.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FRAS1 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FREM2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) FTO 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GATA3 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GATA6 89.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GDF1 74.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GJA1 99.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GLI3 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GMNN 96.00 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GNAI3 97.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GPC3 95.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GRHL3 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GRIP1 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) GYPE 96.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) HDAC8 97.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) HOXA2 98.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) HYLS1 99.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) CILK1 98.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT140 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT172 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT52 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IFT80 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) BPNT2 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) INTS1 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) IRF6 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KANSL1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KAT6A 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KAT6B 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KCNJ2 99.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KDM1A 97.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KDM6A 94.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WASHC5 98.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIAA0586 93.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIFBP 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIF22 98.55 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KIF7 95.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) KMT2D 99.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) LMNA 98.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) LMX1B 99.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MAP3K7 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MAPRE2 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MASP1 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MBTPS2 97.08 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MED12 97.56 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MED13L 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MED25 97.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MEIS2 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MEOX1 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) METTL23 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MID1 97.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MKS1 98.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MSX1 97.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NBN 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NEDD4L 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NEK1 98.70 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NIPBL 98.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NOTCH1 98.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NSDHL 98.23 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) OFD1 92.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PAX3 99.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PGAP2 99.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PGM1 97.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PHF8 97.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PHGDH 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIEZO2 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGA 95.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGL 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGN 97.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIGV 99.40 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PIK3R2 91.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PLCB4 98.47 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PLEKHA5 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PLEKHA7 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POLR1A 98.85 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POLR1C 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POLR1D 94.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POMT1 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) POMT2 98.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PORCN 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PQBP1 97.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PSAT1 99.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PTCH1 97.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) PTDSS1 99.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) NECTIN1 99.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RAI1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RARB 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RBM10 96.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RBM8A 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RBPJ 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ROR2 97.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPL11 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPL5 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS17 23.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS19 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS26 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RPS28 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RSPO2 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) RYR1 97.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SALL4 99.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SATB2 99.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SCARF2 92.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SEC23A 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SF3B4 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SHH 96.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SIX1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SIX3 97.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SIX5 95.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SKI 94.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SLC26A2 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMAD2 98.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMAD3 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMAD4 98.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMC1A 97.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMC3 98.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMG9 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMOC1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SMS 92.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SNRPB 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SON 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SOX2 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SOX9 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SPECC1L 99.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STAMBP 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STIL 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STRA6 98.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) STXBP1 99.15 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) SUMO1 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TBX1 78.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TBX15 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TBX22 98.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TCOF1 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TCTN3 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TELO2 98.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TFAP2A 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TFAP2B 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGDS 98.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFB2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFB3 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFBR1 94.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TGFBR2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TMCO1 94.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) MYMK 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TP63 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TRAPPC9 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TRIM37 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TSR2 93.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TTC21B 98.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TUBB 99.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TWIST2 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) TXNL4A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) UBB 99.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) UQCC2 99.28 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) USP9X 95.07 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) VAX1 87.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WDR19 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2I2 98.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WDR35 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) DYNC2I1 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WNT3 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) WNT5A 98.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) XYLT1 89.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) YAP1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZBTB24 99.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZEB2 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZIC2 87.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZIC3 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZMPSTE24 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) ZSWIM6 88.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience) -
Congenital structural heart defects - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AATK 99.98 1 ABL1 100.00 1 ACAN 91.51 1 ACTA1 99.99 1 ACTB 100.00 1 ACTC1 98.57 1 ACTG1 100.00 1 ACTN2 99.99 1 ACVR1 99.94 1 ACVR1B 99.99 1 ACVR2A 99.15 1 ACVR2B 99.99 1 ACVRL1 99.88 1 ADAMTS10 99.99 1 ADNP 100.00 1 AKAP12 100.00 1 AKT1 100.00 1 AKT2 99.85 1 ALDH1A2 99.97 1 ALX3 99.74 1 ANKRD1 99.57 1 ANKRD11 99.85 1 AP1B1 99.99 1 APAF1 98.70 1 AR 99.76 1 ARHGAP31 100.00 1 ARID4A 99.90 1 ATP2A2 99.98 1 ATRX 99.44 1 AXIN1 100.00 1 BCOR 99.97 1 BMP10 99.96 1 BMP2 99.79 1 BMP4 100.00 1 BMP6 100.00 1 BMP7 100.00 1 BMPR1A 99.58 1 BMPR2 99.95 1 BRAF 99.78 1 BRIP1 99.39 1 BVES 99.83 1 CASQ2 94.39 1 CAV1 99.97 1 CAV3 100.00 1 CBL 99.95 1 CCDC103 99.68 1 CCDC39 99.74 1 CCDC40 100.00 1 CCDC65 99.80 1 CCN1 99.99 1 CCNO 100.00 1 CD96 99.91 1 CDK13 99.83 1 CDK4 100.00 1 CDX2 100.00 1 CENPF 99.97 1 CFAP53 99.95 1 CFC1 21.93 1 CHAC2 99.68 1 CHD4 99.99 1 CHD7 99.99 1 CHD8 99.96 1 CITED2 100.00 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COX7B 99.86 1 CREBBP 99.97 1 CRELD1 99.99 1 CRIP2 99.99 1 CRYAB 100.00 1 CSNK1D 99.99 1 CSRP1 99.75 1 CSRP3 100.00 1 CTNNB1 99.95 1 DDX3X 99.01 1 DES 100.00 1 DIAPH3 99.85 1 DICER1 99.96 1 DLGAP5 99.83 1 DLL1 99.99 1 DLL4 100.00 1 DNAAF1 99.99 1 DNAAF11 99.80 1 DNAAF2 99.91 1 DNAAF3 99.99 1 DNAAF4 99.78 1 DNAAF5 99.99 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAJB13 99.91 1 DNAH9 99.79 1 DRC1 99.93 1 DSCAM 99.99 1 DVL1 100.00 1 DYRK1A 99.98 1 E2F1 99.99 1 ECE1 99.92 1 EDNRA 99.97 1 EFEMP2 99.94 1 EFNB1 99.95 1 EFTUD2 99.93 1 EGFR 99.68 1 EGR1 99.99 1 EHMT1 98.38 1 ELN 99.86 1 ENG 100.00 1 EOGT 99.09 1 EP300 99.97 1 EPHB2 99.86 1 EPHB4 99.82 1 ERBB2 99.98 1 ERCC4 99.92 1 ESR2 99.96 1 ETS1 99.99 1 EVC 99.95 1 EVC2 99.97 1 EWSR1 99.94 1 EZH2 99.89 1 F2R 99.98 1 FABP3 99.87 1 FADD 99.97 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FBLN1 98.69 1 FBLN7 99.95 1 FBN1 99.85 1 FBN2 99.90 1 FGF10 99.95 1 FGF8 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FHL2 100.00 1 FIBP 99.83 1 FLII 100.00 1 FLNA 99.99 1 FLNC 99.99 1 FLT1 99.99 1 FLT4 97.93 1 FN1 99.95 1 FOXC1 100.00 1 FOXC2 100.00 1 FOXH1 100.00 1 FOXK2 99.76 1 FOXL1 100.00 1 FOXL2 99.97 1 FOXO1 100.00 1 FOXP1 99.98 1 FSCN2 100.00 1 G6PC3 99.98 1 GAS8 100.00 1 GATA2 99.99 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD2B 99.44 1 GDF1 100.00 1 GDF11 99.97 1 GDF5 100.00 1 GDNF 99.99 1 GJA1 100.00 1 GJA5 100.00 1 GJD2 99.99 1 GLB1 100.00 1 GLI2 99.93 1 GLI3 100.00 1 GPC3 99.60 1 GPC5 99.96 1 GPC6 99.98 1 GRK5 99.97 1 GTF2I 47.18 1 GTF2IRD1 99.77 1 HAND1 99.99 1 HAND2 99.97 1 HDAC8 99.74 1 HES4 100.00 1 HEY2 99.75 1 HIF1A 99.87 1 HMGB2 99.99 1 HNF1A 100.00 1 HNF4A 100.00 1 HOXA1 100.00 1 HOXB2 99.99 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HYDIN 81.28 1 ID2 100.00 1 IGF1R 100.00 1 IGFBP4 99.85 1 IKBKB 99.93 1 ILK 100.00 1 INHBA 99.98 1 INHBC 99.99 1 INPP5D 99.98 1 INSR 99.99 1 IRS1 100.00 1 IRX4 99.99 1 ISL1 99.99 1 ITGAV 99.40 1 ITGB1 99.96 1 ITGB3 99.83 1 ITGB4 99.99 1 JAG1 100.00 1 JAM3 100.00 1 JUN 100.00 1 KANSL1 99.85 1 KAT6A 99.93 1 KAT6B 99.79 1 KDM3B 99.98 1 KDM5A 99.90 1 KDM5B 97.15 1 KDM6A 99.74 1 KDR 99.86 1 KIT 99.86 1 KMT2D 99.98 1 KRAS 99.13 1 KREMEN1 99.88 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMC1 99.55 1 LBR 99.66 1 LEFTY1 99.98 1 LEFTY2 100.00 1 LHX3 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRP2 99.86 1 LTBP1 99.95 1 LTBP3 99.96 1 LZTR1 99.46 1 MAFG 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK14 99.95 1 MCTP2 99.99 1 MECOM 99.97 1 MED13L 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MESP1 100.00 1 MET 99.97 1 METTL3 99.98 1 MGP 99.95 1 MID1 99.90 1 MITF 99.98 1 MMP2 99.96 1 MMP21 99.99 1 MSX1 100.00 1 MTHFD1 100.00 1 MTHFR 99.97 1 MTRR 99.98 1 MYBPC3 99.98 1 MYC 100.00 1 MYH10 99.91 1 MYH11 99.16 1 MYH6 100.00 1 MYH7 99.99 1 MYH9 99.95 1 MYL2 99.99 1 MYL3 99.99 1 MYL7 99.95 1 MYOCD 99.99 1 MYOM1 99.98 1 MYOZ2 99.99 1 NF1 99.88 1 NFATC1 100.00 1 NFIX 99.99 1 NFKB1 99.80 1 NID2 99.97 1 NIPBL 99.34 1 NKX2-1 100.00 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NME8 99.83 1 NNMT 100.00 1 NODAL 99.98 1 NONO 99.94 1 NOS3 93.73 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NOTCH3 99.99 1 NPHP3 99.89 1 NPHP4 99.98 1 NPPA 100.00 1 NR2F2 100.00 1 NR4A2 99.97 1 NRAS 99.66 1 NRP1 99.99 1 NRP2 99.98 1 NSD1 99.98 1 ODAD1 96.04 1 ODAD2 98.19 1 ODAD3 99.96 1 ODAD4 99.85 1 OTX2 100.00 1 PACS1 99.96 1 PAX3 100.00 1 PCSK5 99.97 1 PDGFC 99.97 1 PDGFRA 99.94 1 PDGFRB 99.99 1 PDHX 100.00 1 PIGA 99.81 1 PIGL 99.98 1 PIGN 99.91 1 PIGT 99.95 1 PITX2 99.98 1 PKD1L1 99.84 1 PLAGL1 99.96 1 PLAT 99.99 1 POU5F1 100.00 1 PPARG 99.96 1 PPARGC1A 99.82 1 PPP3CA 99.84 1 PRKACA 99.95 1 PRKD1 99.96 1 PROX1 99.98 1 PRRX1 99.56 1 PSEN1 100.00 1 PSEN2 99.97 1 PTEN 99.89 1 PTK2 99.97 1 PTP4A3 99.99 1 PTPN11 99.98 1 PUF60 100.00 1 RAB23 99.97 1 RAD21 99.91 1 RAD51C 99.02 1 RAF1 99.97 1 RAI1 99.22 1 RAI2 99.98 1 RARB 99.99 1 RARG 99.98 1 RB1 99.84 1 RBBP7 99.87 1 RBL2 99.44 1 RBM10 99.98 1 RBM8A 99.37 1 RELA 99.99 1 RERE 99.94 1 RET 99.97 1 RGS19 99.88 1 RIT1 99.78 1 RNF20 99.93 1 ROR2 99.99 1 RPGR 94.45 1 RPL11 99.81 1 RPL15 31.77 1 RPL26 30.55 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RSPH1 99.87 1 RSPH3 99.94 1 RSPH4A 99.95 1 RSPH9 99.99 1 RYR2 99.94 1 SALL1 100.00 1 SALL4 100.00 1 SCN5A 100.00 1 SESN1 99.95 1 SF3B4 99.65 1 SGCA 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOC2 99.96 1 HHAT 99.98 1 SLC19A1 99.99 1 SLC25A4 100.00 1 SLC2A10 100.00 1 SLX4 100.00 1 SMAD2 99.92 1 SMAD3 99.99 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG9 99.99 1 SOS1 99.68 1 SOS2 99.39 1 SOX2 100.00 1 SOX4 99.36 1 SP1 99.98 1 SPAG1 99.78 1 SPATC1L 99.99 1 SPECC1L 99.98 1 SRCAP 99.99 1 SRF 99.99 1 STAT3 99.97 1 STRA6 99.95 1 SUZ12 98.58 1 TAB2 99.75 1 TBX1 99.95 1 TBX2 99.97 1 TBX20 99.99 1 TBX3 100.00 1 TBX5 99.98 1 TBX6 99.99 1 TCAP 100.00 1 TCF21 100.00 1 TCF3 100.00 1 TCN2 100.00 1 CRIPTO 99.82 1 TEAD1 99.97 1 TEK 99.98 1 TFAP2A 100.00 1 TFAP2B 99.98 1 TFAP2C 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 THBS1 100.00 1 THBS4 100.00 1 THOC5 99.90 1 THRB 99.82 1 DDR2 97.39 1 TLL1 99.94 1 TNFRSF11A 100.00 1 TNFRSF1A 100.00 1 TNNI3 100.00 1 TNNT2 99.87 1 TNR 99.80 1 TP53 99.98 1 TP73 100.00 1 TPM1 99.92 1 TRPM2 99.99 1 TSR2 99.96 1 TTN 99.15 1 TWIST1 100.00 1 UBE2B 99.94 1 UBE2T 99.89 1 USP44 99.86 1 USP9X 99.84 1 VCAN 99.99 1 VDR 99.86 1 VEGFA 99.99 1 VEGFC 99.96 1 WASHC5 99.98 1 WDR5 100.00 1 WNT11 100.00 1 WT1 99.99 1 YY1 100.00 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFPM2 100.00 1 ZIC3 99.90 1 ZMYND10 99.99 1 -
Pediatric oncopredisposition - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.97 1 ABCB11 99.86 1 ACD 100.00 1 AIP 99.99 1 ALK 99.93 1 APC 99.97 1 ASXL1 100.00 1 ATM 99.83 1 RNF2 99.99 1 BLM 99.80 1 BMPR1A 99.58 1 BRAF 99.78 1 BRCA1 98.33 1 BRCA2 99.99 1 BRIP1 99.39 1 BUB1B 100.00 1 CBL 99.95 1 CD27 99.95 1 CD70 99.99 1 CDC73 99.60 1 CDH1 99.98 1 CDK4 100.00 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDKN2A 100.00 1 CEBPA 100.00 1 CEP57 99.92 1 CREBBP 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTR9 99.98 1 DDB2 100.00 1 DICER1 99.96 1 DIS3L2 99.90 1 DKC1 99.59 1 DNAJC21 99.67 1 EFL1 99.83 1 EGLN1 99.86 1 EGLN2 99.97 1 ELP1 99.96 1 EPAS1 99.99 1 EPCAM 99.89 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6L2 99.94 1 ETV6 99.99 1 EZH2 99.89 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FAS 99.99 1 FBXW7 99.90 1 FH 99.95 1 GATA1 99.97 1 GATA2 99.99 1 GPC3 99.60 1 GPC4 99.89 1 GPR161 99.92 1 HAVCR2 99.93 1 HRAS 100.00 1 IKZF1 99.92 1 ITK 99.91 1 KRAS 99.13 1 L2HGDH 99.92 1 LIG4 100.00 1 LZTR1 99.46 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAX 99.96 1 MDH2 99.54 1 MDM4 99.43 1 MEN1 99.98 1 MLH1 99.64 1 MRAS 99.97 1 MSH2 99.23 1 MSH6 99.97 1 MYSM1 94.16 1 NBN 99.93 1 NF1 99.88 1 NF2 100.00 1 NHP2 99.96 1 NOP10 99.99 1 NRAS 99.66 1 NSD1 99.98 1 PALB2 99.71 1 PARN 99.75 1 PAX5 99.82 1 PHOX2B 99.98 1 PIK3CA 99.74 1 PMS2 70.47 1 POLD1 99.96 1 POLE 99.99 1 POLH 99.85 1 POT1 99.91 1 PPP1CB 99.89 1 PRF1 100.00 1 PRKAR1A 100.00 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 RAF1 99.97 1 RB1 99.84 1 RECQL4 100.00 1 REST 99.99 1 RET 99.97 1 RIT1 99.78 1 RMRP 100.00 1 RPL11 99.81 1 RPL15 31.77 1 RPL18 100.00 1 RPL26 30.55 1 RPL27 99.83 1 RPL35 99.99 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS15A 22.14 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS27 27.45 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RRAS 99.98 1 RRAS2 99.94 1 RTEL1 100.00 1 RUNX1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SBDS 99.93 1 SDHA 99.98 1 SDHAF2 99.96 1 SDHB 97.32 1 SDHC 99.67 1 SDHD 82.93 1 SETBP1 100.00 1 SH2D1A 98.98 1 SHOC2 99.96 1 SLX4 100.00 1 SMARCA4 99.99 1 SMARCB1 99.99 1 SMARCE1 99.87 1 SOS1 99.68 1 SOS2 99.39 1 SRP72 99.91 1 STK11 100.00 1 SUFU 100.00 1 TERC 98.59 1 TERT 100.00 1 TINF2 100.00 1 TMEM127 99.99 1 TP53 99.98 1 TRIM28 100.00 1 TRIM37 98.19 1 TRIP13 100.00 1 TSC1 99.99 1 TSC2 99.98 1 TSR2 99.96 1 UBE2T 99.89 1 USB1 89.62 1 VHL 100.00 1 WAS 99.90 1 WRAP53 100.00 1 WT1 99.99 1 XPA 99.68 1 XPC 99.98 1 SRP54 99.90 1