- Panels
- COVID-19 research
- POLE2
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: POLE2 Green List (high evidence)
POLE2 (DNA polymerase epsilon 2, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000100479
EnsemblGeneIds (GRCh37): ENSG00000100479
OMIM: 602670, Gene2Phenotype
POLE2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000100479
EnsemblGeneIds (GRCh37): ENSG00000100479
OMIM: 602670, Gene2Phenotype
POLE2 is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
In OMIM and Gene2Phenotype this gene is not associated with any disorders. Expert reviewer (SH) lists publication Frugoni et al. (2016)(PMID: 26365386) which reports a 5-year-old male born to related parents of Saudi origin with with combined immunodeficiency, facial dysmorphisms, and autoimmunity. The patient was found by whole exome sequencing to have a homozygous splice-site mutation in the POLE2 gene. This variant has not been previously reported in dbSNP or 1000Genome. Both parents were heterozygous for the mutation.Created: 5 Jul 2018, 4:18 p.m.
Created: 5 Jul 2018, 4:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 0.1504
Panel version: Imported from Primary immunodeficiency panel version 0.1504
Sophie Hambleton (Newcastle University)
Red List (low evidence)
Single patient, consanguineous kindredCreated: 30 Jun 2018, 5:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
combined immunodeficiency with facial dysmorphism
Publications
Created: 30 Jun 2018, 5:31 a.m.
Panel version: Imported from Primary immunodeficiency panel version 0.1371
Panel version: Imported from Primary immunodeficiency panel version 0.1371
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- Phenotypes
-
- Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism)
- Combined immunodeficiencies with associated or syndromic features
- Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
- OMIM
- 602670
- Clinvar variants
- Variants in POLE2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Apr 2020, Gel status: 3
Added New Source, Set Phenotypes, Status Update
Ellen McDonagh (Genomics England Curator)Source Expert Review Green was added to POLE2. Added phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features; Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism for gene: POLE2 Rating Changed from Red List (low evidence) to Green List (high evidence)
1 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: POLE2 was added gene: POLE2 was added to Viral susceptibility. Sources: Expert Review Red,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE2 were set to 32086639; 32048120 Phenotypes for gene: POLE2 were set to Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features; Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism