Genes in panel
- ABO 5
- ACD 4
- ACE2 7
- ACP5 5
- ACTB 3
- ADA 7
- ADA2 4
- ADAM17 6
- ADAR 4
- AICDA 6
- AIM2 2
- AIRE 4
- AK2 6
- ALPI 3
- AP1S3 4
- AP3B1 4
- AP3D1 2
- APOL1 2
- ARHGEF1 2
- ARPC1B 4
- ATM 4
- ATP6AP1 4
- B2M 4
- BACH2 4
- BCL10 2
- BCL11B 2
- BLK 1
- BLM 4
- BLNK 7
- BRCA1 0
- BRCA2 0
- BRIP1 2
- BTK 8
- C17orf62 2
- C1QA 4
- C1QB 5
- C1QC 4
- C1R 5
- C1S 5
- C2 4
- C3 5
- C4A 4
- C4B 4
- C5 4
- C6 4
- C7 4
- C8A 4
- C8B 4
- C8G 2
- C9 4
- CARD11 4
- CARD14 4
- CARD9 4
- CARMIL2 5
- CASP1 2
- CASP10 4
- CASP3 1
- CASP8 4
- CCBE1 4
- CCL2 3
- CCL5 4
- CCR2 2
- CD14 4
- CD19 6
- CD244 2
- CD247 6
- CD27 5
- CD3D 7
- CD3E 7
- CD3G 4
- CD40 4
- CD40LG 4
- CD46 4
- CD55 4
- CD59 4
- CD70 4
- CD79A 7
- CD79B 6
- CD81 2
- CD8A 2
- CDC42 2
- CDCA7 4
- CEBPE 5
- CFB 4
- CFD 4
- CFH 4
- CFHR1 2
- CFHR2 2
- CFHR3 2
- CFHR4 2
- CFHR5 4
- CFI 4
- CFP 4
- CFTR 3
- CHD7 4
- CIB1 4
- CIITA 5
- CLCN7 2
- CLPB 4
- COPA 4
- CORO1A 6
- CR2 4
- CSF2RA 4
- CSF2RB 4
- CSF3R 6
- CTC1 4
- CTLA4 6
- CTPS1 4
- CTSC 4
- CXCL8 2
- CXCR4 6
- CYBA 4
- CYBB 5
- DAG1 2
- DBR1 2
- DCLRE1B 4
- DCLRE1C 7
- DEF6 2
- DICER1 2
- DKC1 4
- DNAJC21 4
- DNASE1L3 4
- DNASE2 4
- DNMT3B 6
- DOCK2 4
- DOCK8 6
- EFL1 2
- EGFR 2
- ELANE 6
- EPG5 5
- ERBIN 2
- ERCC4 2
- ERCC6L2 4
- EXTL3 5
- F12 4
- FAAP24 2
- FADD 4
- FANCA 2
- FANCB 2
- FANCC 2
- FANCD2 2
- FANCE 2
- FANCF 1
- FANCG 2
- FANCI 1
- FANCL 2
- FANCM 1
- FAS 4
- FASLG 5
- FAT4 4
- FCGR2A 4
- FCGR3A 3
- FCHO1 2
- FCN3 2
- FERMT1 2
- FERMT3 4
- FOXN1 7
- FOXP3 4
- FPR1 2
- FPR2 4
- G6PC3 6
- G6PD 5
- GATA1 5
- GATA2 4
- GFI1 6
- GINS1 4
- HAVCR1 2
- HAVCR2 3
- HAX1 8
- HDAC6 2
- HELLS 4
- HLA-B 4
- HLA-DRB1 5
- HMOX1 2
- HPS1 4
- HPS4 4
- HPS6 4
- HTRA2 5
- HYOU1 2
- ICOS 6
- ICOSLG 3
- IFIH1 5
- IFITM3 4
- IFNA1 2
- IFNAR1 2
- IFNAR2 2
- IFNE 2
- IFNG 2
- IFNGR1 4
- IFNGR2 4
- IGHM 6
- IGKC 2
- IGLL1 6
- IKBKB 6
- IKBKG 4
- IKZF1 7
- IL10 4
- IL10RA 4
- IL10RB 4
- IL12B 4
- IL12RB1 4
- IL12RB2 2
- IL17A 4
- IL17F 2
- IL17RA 4
- IL17RC 4
- IL18BP 6
- IL1RN 5
- IL21 2
- IL21R 4
- IL23R 2
- IL2RA 4
- IL2RB 3
- IL2RG 7
- IL36RN 5
- IL6 2
- IL6R 5
- IL6ST 3
- IL7R 7
- INO80 4
- IRAK1 2
- IRAK4 4
- IRF1 2
- IRF2 2
- IRF2BP2 4
- IRF3 2
- IRF4 2
- IRF5 1
- IRF7 3
- IRF8 4
- IRF9 3
- ISG15 4
- ITCH 4
- ITGAV 2
- ITGB2 4
- ITGB3 2
- ITK 6
- ITPKC 1
- JAGN1 4
- JAK1 3
- JAK3 7
- KDM6A 2
- KIAA0319L 2
- KLF2 2
- KMT2A 2
- KMT2D 2
- LAMTOR2 4
- LAT 5
- LCK 4
- LIG1 3
- LIG4 7
- LPIN2 5
- LRBA 5
- LYST 5
- MAD2L2 2
- MAGT1 6
- MALT1 5
- MAP3K14 5
- MASP2 4
- MCM4 5
- MEFV 5
- MKL1 2
- MOGS 5
- MPO 5
- MS4A1 3
- MSH6 3
- MSN 4
- MTHFD1 5
- MVK 5
- MYD88 6
- MYO5B 5
- MYSM1 4
- NBAS 2
- NBN 5
- NCF1 5
- NCF2 5
- NCF4 6
- NCSTN 2
- NFAT5 3
- NFE2L2 2
- NFKB1 5
- NFKB2 7
- NFKBIA 5
- NHEJ1 8
- NHP2 5
- NLRC4 5
- NLRP1 4
- NLRP12 5
- NLRP3 5
- NOD2 5
- NOP10 3
- NOS2 2
- NSMCE3 4
- OAS1 4
- ORAI1 8
- OSTM1 2
- OTULIN 5
- PALB2 2
- PARN 5
- PAX1 2
- PEPD 4
- PGM3 5
- PIK3CD 8
- PIK3CG 2
- PIK3R1 8
- PLCG2 8
- PLEKHM1 2
- PMS2 3
- PNP 6
- POLA1 5
- POLD1 2
- POLD2 2
- POLE 3
- POLE2 2
- POLR3A 4
- POLR3C 4
- POLR3F 3
- POMP 2
- PRF1 4
- PRKCD 5
- PRKDC 5
- PSEN1 3
- PSENEN 3
- PSMB8 6
- PSMG2 2
- PSTPIP1 5
- PTEN 4
- PTPRC 7
- RAB27A 5
- RAC2 6
- RAD51 2
- RAD51C 2
- RAG1 7
- RAG2 7
- RANBP2 3
- RASGRP1 5
- RBCK1 5
- RECQL4 3
- REL 2
- RELA 2
- RELB 3
- RFWD3 2
- RFX5 5
- RFXANK 5
- RFXAP 5
- RHOH 3
- RIPK1 6
- RMRP 7
- RNASEH2A 5
- RNASEH2B 5
- RNASEH2C 5
- RNASEL 2
- RNF168 5
- RNF31 3
- RNU4ATAC 2
- RORC 5
- RPSA 5
- RTEL1 5
- SAMD9 2
- SAMD9L 4
- SAMHD1 5
- SBDS 6
- SEC61A1 2
- SEMA3E 3
- SERPING1 5
- SGPL1 5
- SH2D1A 5
- SH3KBP1 2
- SKIV2L 6
- SLC29A3 5
- SLC35C1 5
- SLC37A4 6
- SLC39A7 3
- SLC46A1 5
- SLC7A7 2
- SLX4 2
- SMARCAL1 5
- SMARCD2 2
- SNORA31 5
- SNX10 2
- SP110 5
- SPINK5 6
- SPPL2A 4
- SRP54 2
- SRP72 2
- STAT1 5
- STAT2 6
- STAT3 5
- STAT5B 7
- STIM1 6
- STK4 5
- STN1 2
- STX11 4
- STXBP2 5
- TAP1 5
- TAP2 5
- TAPBP 3
- TAZ 6
- TBK1 5
- TBX1 7
- TCF3 8
- TCIRG1 2
- TCN2 9
- TERC 3
- TERT 3
- TFRC 2
- TGFB1 2
- TGFBR1 2
- TGFBR2 2
- THBD 3
- TICAM1 6
- TINF2 3
- TIRAP 2
- TLR3 6
- TLR4 1
- TLR7 3
- TMC6 6
- TMC8 6
- TMEM173 7
- TMPRSS2 6
- TNF 2
- TNFAIP3 4
- TNFRSF11A 4
- TNFRSF13B 7
- TNFRSF13C 2
- TNFRSF1A 5
- TNFRSF4 2
- TNFRSF9 2
- TNFSF11 2
- TNFSF12 2
- TOP2B 2
- TP53 3
- TPP2 4
- TRAC 4
- TRAF3 3
- TRAF3IP2 3
- TREX1 4
- TRIM22 2
- TRNT1 4
- TTC37 6
- TTC7A 4
- TYK2 5
- UBE2T 2
- UNC13D 4
- UNC93B1 7
- UNG 5
- USB1 4
- USP18 4
- VPS13B 5
- VPS45 5
- WAS 8
- WDR1 4
- WIPF1 5
- WRAP53 2
- XIAP 5
- XRCC2 2
- ZAP70 6
- ZBTB24 5
- ZNF341 3
- APOE 1
- ATF3 2
- ATG16L1 2
- ATG5 2
- BECN1 2
- CCR7 2
- CD207 2
- CD28 2
- CD4 4
- CLEC4M 3
- CPT2 2
- CX3CR1 2
- CXADR 2
- CXCR3 2
- DDX58 2
- DEFA1 2
- DPP4 3
- DSG2 2
- EIF3M 2
- FCMR 2
- FEZ1 2
- FOLR1 2
- FURIN 2
- FUT2 3
- GC 3
- GNAQ 2
- GPATCH3 2
- GPR183 2
- GUCY2C 5
- IDE 2
- IFNL3 2
- IL18 3
- IL3 2
- IL7 3
- IL9 2
- ILF3 2
- ITGAM 3
- ITPKB 1
- IVNS1ABP 2
- KHDRBS1 1
- KRAS 4
- LILRB1 1
- MICA 2
- MIF 1
- MIR155 3
- MRC1 1
- MRE11 4
- MX2 2
- NECTIN1 2
- NLRP6 2
- NPC1 2
- NRAS 6
- PDGFRA 2
- PSMA3 4
- PSMB10 3
- PSMB4 5
- PSMB9 5
- PTX3 2
- PVR 2
- RC3H1 3
- SCARB1 1
- SERINC3 1
- SERINC5 1
- SLC2A1 1
- TBX21 1
- TNFSF10 1
- ABCA7 1
- ABCB1 2
- ABCC1 3
- ABI3 1
- ACE 2
- ACKR1 1
- AKT1 1
- ALOXE3 1
- ANPEP 1
- BANF1 2
- BCAR1 1
- BLOC1S6 2
- BRF2 1
- BST2 1
- CC2D2A 1
- CCL11 2
- CCL21 1
- CCL3L1 2
- CCND1 1
- CCR5 2
- CD200 1
- CD209 3
- CDKN1B 2
- CH25H 1
- CLDN6 2
- CLDN9 2
- CNBP 4
- COLEC11 3
- CR1 1
- CTSB 1
- CTSL 2
- CXorf36 1
- CYP2B6 1
- DDX1 1
- DMBT1 1
- DMD 1
- ELF4 5
- EPCAM 3
- ERAP2 1
- ERCC2 2
- ERCC3 2
- FBF1 3
- FBRS 1
- FCGR1A 3
- FCGR2B 3
- FCGR3B 5
- FCGRT 3
- FLNA 1
- FOXM1 1
- FPR3 3
- GAD1 6
- GTF2H5 1
- HBB 1
- HFE 1
- HIVEP1 1
- HLA-A 1
- HLA-C 2
- HLA-DPB1 1
- HLA-DQB1 2
- HLA-DRA 1
- HLA-DRB5 1
- HSPA5 1
- HTR2A 1
- HYDIN 1
- ICAM1 1
- IFNL4 1
- IGHG2 3
- IL22 3
- IL23A 3
- IL31RA 1
- IL4 1
- IL4R 2
- IRGM 1
- ITGAL 1
- KARS 1
- KIR2DL2 3
- KPNA2 1
- KRT18 1
- LDB2 1
- LDLR 1
- LRRC8A 5
- LY6E 1
- LYZ 2
- LZTFL1 3
- MASP1 2
- MBL2 4
- MED13L 1
- MET 1
- MIS12 1
- MLKL 1
- MPI 2
- MPP5 2
- MST1R 1
- MTOR 1
- MTPAP 1
- MUC5AC 1
- MUC5B 1
- MX1 1
- MYH9 1
- NCR3 1
- NFKBID 3
- NRP2 1
- NUP214 2
- NUP88 1
- OCLN 1
- ODC1 1
- PARP1 1
- PDCD1 1
- PHB 1
- PHB2 1
- PKD1L3 1
- PLG 1
- PQBP1 1
- PROM1 1
- PRSS1 1
- PTPN2 1
- PTPN22 1
- PYCARD 1
- RB1 1
- RET 3
- RPAIN 1
- SAMD3 1
- SART3 4
- SCN4A 1
- SCN5A 2
- SDC1 1
- SELPLG 1
- SERPINA1 1
- SGTA 1
- SH3BP2 3
- SIGIRR 1
- SLAMF6 1
- SLC11A1 1
- SLC13A4 1
- SLC1A5 1
- SLC20A2 1
- SLC6A19 1
- SLFN12 1
- SLFN12L 1
- SMAD3 1
- SOCS1 1
- SPNS3 1
- STAT4 1
- STAT5A 3
- STAT6 1
- STK17B 1
- TAPT1 1
- TLR2 1
- TLR5 1
- TMEM181 1
- TMPRSS11A 1
- TMPRSS4 1
- TNFSF4 1
- TNIP1 1
- TPH1 1
- TRBC1 2
- TRIB3 1
- TRIM69 2
- TSPAN14 1
- TUBGCP3 1
- UNC119 3
- UNC5CL 1
- VPS11 2
- VPS33A 2
- VPS4A 1
- WSCD1 1
- ZC3HC1 1
- ZFHX3 1
- ZFP36 1
- ZNF34 1
STRs in panel
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COVID-19 research
Gene: RB1 Red List (low evidence)
RB1 (RB transcriptional corepressor 1)
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000139687
EnsemblGeneIds (GRCh37): ENSG00000139687
OMIM: 614041, Gene2Phenotype
RB1 is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
The RB1 gene product is the target for adenovirus E1A transformation (PMID 2968522). Cytomegalovirus UL97 protein phosphorylates RB protein (PMID 18467589).Created: 4 May 2020, 3:17 p.m. | Last Modified: 4 May 2020, 3:17 p.m.
Panel Version: 0.176
Publications
Created: 4 May 2020, 3:17 p.m.
Last Modified: 4 May 2020, 3:17 p.m.
Panel version: 0.176
Last Modified: 4 May 2020, 3:17 p.m.
Panel version: 0.176
Details
- Sources
-
- OMIM
- OMIM
- 614041
- Clinvar variants
- Variants in RB1
- Penetrance
- None
- Panels with this gene
-
- Sarcoma susceptibility
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Sarcoma cancer susceptibility
- Retinal disorders
- COVID-19 research
- Sarcoma of possible germline origin
- Retinoblastoma
- Familial rhabdomyosarcoma
- Childhood solid tumours cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
21 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: RB1 was added gene: RB1 was added to Viral susceptibility. Sources: OMIM Mode of inheritance for gene: RB1 was set to