- Analytes
- REST
REST
Name: |
RE1 silencing transcription factor
|
Symbol: |
REST
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
NRSF
XBR
neuron-restrictive silencer factor
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Hearing loss (deafness) (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.11 1 ACTG1 100.00 1 ADCY1 98.44 1 ADGRV1 99.88 1 AIFM1 99.43 1 ATOH1 100.00 1 ATP11A 99.99 1 ATP2B2 99.96 1 ATP6V0A4 99.83 1 ATP6V1B1 99.92 1 ATP6V1B2 99.91 1 BDP1 99.89 1 BSND 100.00 1 CABP2 99.99 1 CACNA1D 99.94 1 CCDC50 99.92 1 CD164 99.92 1 CDC14A 99.95 1 CDH23 99.95 1 CEACAM16 99.92 1 CEP250 99.98 1 CEP78 99.83 1 CHD7 99.96 1 CIB2 99.99 1 CISD2 99.95 1 CLDN14 100.00 1 CLIC5 99.98 1 CLPP 100.00 1 CLRN1 99.97 1 COCH 99.90 1 COL11A1 99.89 1 COL11A2 99.35 1 COL2A1 100.00 1 COL4A3 99.94 1 COL4A4 99.96 1 COL4A5 99.18 1 COL4A6 99.37 1 COL9A1 99.98 1 COL9A2 99.95 1 COL9A3 99.86 1 CRYL1 99.89 1 CRYM 99.91 1 DCDC2 99.93 1 DIABLO 99.98 1 DIAPH1 97.50 1 DIAPH3 99.86 1 DMXL2 99.40 1 DNAAF10 99.97 1 EDN3 100.00 1 EDNRB 99.94 1 ELMOD3 100.00 1 EPHA10 97.51 1 EPS8 99.87 1 EPS8L2 99.87 1 ERAL1 99.97 1 ESPN 96.05 1 ESRP1 99.81 1 ESRRB 100.00 1 EYA1 99.93 1 EYA4 99.98 1 FDXR 99.98 1 FGF3 98.11 1 FOXI1 100.00 1 GATA3 99.89 1 GIPC3 97.45 1 GJB2 100.00 1 GJB3 100.00 1 GJB6 100.00 1 GPSM2 99.94 1 GRHL2 99.95 1 GRXCR1 100.00 1 GRXCR2 99.91 1 GSDME 99.97 1 HARS1 99.99 1 HARS2 99.51 1 HECTD3 99.39 1 HGF 99.96 1 HOMER2 99.74 1 HOXA2 99.93 1 HSD17B4 99.80 1 IFNLR1 99.52 1 ILDR1 99.95 1 KARS1 99.91 1 KCNE1 100.00 1 KCNJ10 100.00 1 KCNQ1 99.87 1 KCNQ4 99.49 1 KITLG 99.87 1 LARS2 99.99 1 LHFPL5 99.99 1 LMX1A 100.00 1 LOXHD1 99.73 1 LRTOMT 99.99 1 MARVELD2 99.96 1 MCM2 99.96 1 MET 99.97 1 MIR96 100.00 1 MITF 99.97 1 MPZL2 99.96 1 MSRB3 99.96 1 MTAP 98.96 1 MYH14 99.79 1 MYH9 100.00 1 MYO15A 99.59 1 MYO3A 99.84 1 MYO6 99.77 1 MYO7A 99.99 1 NARS2 99.94 1 NDP 99.95 1 NLRP3 99.90 1 OSBPL2 100.00 1 OTOA 99.83 1 OTOF 99.95 1 OTOG 99.99 1 OTOGL 99.63 1 P2RX2 99.91 1 PAX3 99.98 1 PCDH15 99.94 1 PDE1C 99.92 1 PDZD7 99.82 1 PI4KB 99.55 1 PJVK 99.79 1 PLS1 99.80 1 PNPT1 99.86 1 POLR1B 99.95 1 POLR1C 97.52 1 POLR1D 99.72 1 POU3F4 99.94 1 POU4F3 100.00 1 PPIP5K2 99.83 1 PRPS1 99.79 1 PTPRQ 99.83 1 RDX 99.80 1 REST 99.96 1 RIPOR2 99.96 1 ROR1 98.58 1 S1PR2 100.00 1 SALL1 99.99 1 SEMA3E 99.97 1 SERPINB6 98.21 1 SIX1 100.00 1 SIX5 99.87 1 SLC12A2 98.96 1 SLC17A8 99.95 1 SLC22A4 99.96 1 SLC26A4 99.95 1 SLC26A5 99.95 1 SLC4A11 99.99 1 SLC7A8 99.99 1 SLITRK6 100.00 1 SMPX 99.37 1 SNAI2 99.98 1 SOX10 100.00 1 SPATC1L 100.00 1 SSBP1 99.99 1 STRC 99.73 1 SYNE4 100.00 1 TBC1D24 99.97 1 TCOF1 99.96 1 TECTA 99.97 1 THRAP3 99.89 1 TIMM8A 99.78 1 TJP2 99.94 1 TMC1 99.83 1 TMEM132E 99.75 1 TMIE 99.95 1 TMPRSS3 99.95 1 TMTC2 99.96 1 TNC 99.97 1 TPRN 90.56 1 TRIOBP 99.09 1 TSPEAR 99.97 1 TWNK 100.00 1 USH1C 98.72 1 USH1G 99.96 1 USH2A 99.95 1 USP48 99.80 1 WBP2 99.86 1 WFS1 100.00 1 WHRN 99.69 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