Genes in panel
- ACD 4
- ACP5 5
- ADA 9
- ADA2 5
- ADAM17 7
- ADAR 4
- AGR2 3
- AICDA 7
- AIRE 6
- AK2 7
- ALPI 4
- ALPK1 2
- ANKZF1 3
- AP3B1 5
- ARPC1B 5
- ARPC5 3
- ATM 4
- ATP6AP1 4
- B2M 5
- BACH2 5
- BCL10 6
- BLM 4
- BLNK 7
- BLOC1S6 5
- BTK 8
- C17orf62 4
- C1QA 4
- C1QB 5
- C1QC 4
- C1R 4
- C1S 4
- C2 7
- C2orf69 3
- C3 4
- C4A 4
- C4B 4
- C5 4
- C6 4
- C7 4
- C8A 4
- C8B 4
- C9 4
- CARD11 5
- CARD14 5
- CARD9 4
- CARMIL2 6
- CASP8 5
- CBLB 3
- CCBE1 5
- CD19 6
- CD247 9
- CD27 6
- CD3D 8
- CD3E 8
- CD3G 5
- CD4 7
- CD40 5
- CD40LG 5
- CD46 4
- CD55 4
- CD59 4
- CD70 5
- CD79A 7
- CD79B 6
- CD81 5
- CDC42 3
- CDCA7 4
- CEBPE 5
- CFD 4
- CFH 4
- CFI 4
- CFP 4
- CHD7 4
- CIB1 3
- CIITA 6
- CLPB 5
- COL7A1 4
- COPA 6
- CORO1A 7
- CR2 6
- CREBBP 3
- CSF2RA 4
- CSF2RB 5
- CSF3R 6
- CTLA4 7
- CTPS1 5
- CTSC 4
- CXCR2 6
- CXCR4 6
- CYBA 4
- CYBB 5
- DBR1 3
- DCLRE1C 8
- DEF6 5
- DIAPH1 3
- DKC1 4
- DNAJC21 4
- DNASE1L3 7
- DNASE2 4
- DNMT3B 6
- DOCK11 3
- DOCK2 5
- DOCK8 7
- DPP9 3
- DUT 3
- EFL1 3
- ELANE 6
- ELF4 9
- EP300 3
- EPG5 6
- ERCC6L2 4
- EXTL3 6
- F12 4
- FADD 5
- FAS 5
- FASLG 6
- FAT4 5
- FCHO1 4
- FERMT1 2
- FERMT3 4
- FNIP1 2
- FOXN1 9
- FOXP3 5
- G6PC3 6
- G6PD 4
- GATA1 5
- GATA2 4
- GFI1 6
- GINS1 4
- GNAI2 3
- GUCY2C 5
- HAVCR2 4
- HAX1 8
- HELLS 4
- HMOX1 5
- HPS1 4
- HPS4 4
- HPS6 4
- HTRA2 5
- HYOU1 6
- ICOS 7
- IFIH1 4
- IFNAR1 3
- IFNAR2 5
- IFNGR1 4
- IFNGR2 4
- IGHM 6
- IGLL1 6
- IKBKB 8
- IKBKG 5
- IKZF1 6
- IKZF2 4
- IKZF3 2
- IL10 5
- IL10RA 5
- IL10RB 5
- IL12B 4
- IL12RB1 4
- IL17RA 5
- IL17RC 4
- IL1RN 6
- IL21R 5
- IL23R 5
- IL2RA 5
- IL2RB 4
- IL2RG 8
- IL36RN 6
- IL6R 6
- IL6ST 7
- IL7 2
- IL7R 8
- IRAK4 4
- IRF1 3
- IRF2BP2 5
- IRF4 5
- IRF7 4
- IRF8 4
- ISG15 4
- ITCH 5
- ITGB2 4
- ITK 7
- ITPR3 2
- JAGN1 4
- JAK1 6
- JAK3 8
- KDM6A 5
- KMT2A 4
- KMT2D 5
- LACC1 3
- LAMTOR2 6
- LAT 6
- LCK 5
- LCP2 5
- LIG1 6
- LIG4 8
- LPIN2 6
- LRBA 6
- LYN 3
- LYST 6
- MAGT1 7
- MALT1 6
- MAP3K14 6
- MCM4 7
- MCTS1 3
- MECOM 3
- MEFV 6
- MOGS 5
- MPEG1 2
- MSN 5
- MTHFD1 6
- MVK 6
- MYD88 6
- MYO5B 8
- MYSM1 5
- NBN 5
- NCF1 5
- NCF2 5
- NCF4 6
- NCKAP1L 2
- NFAT5 6
- NFE2L2 4
- NFKB1 5
- NFKB2 7
- NFKBIA 6
- NHEJ1 10
- NHP2 5
- NLRC4 6
- NLRP1 10
- NLRP12 6
- NLRP3 6
- NOD2 7
- NPC1 3
- NSMCE3 4
- NUDCD3 2
- OAS1 5
- ORAI1 8
- OTULIN 8
- PARN 5
- PAX1 3
- PEPD 5
- PGM3 5
- PI4KA 2
- PIK3CD 10
- PIK3CG 3
- PIK3R1 8
- PLCG2 9
- PLG 3
- PNP 7
- POLA1 5
- POLD1 6
- POLE 6
- POMP 2
- PRF1 5
- PRIM1 3
- PRKCD 6
- PRKDC 5
- PSMB10 7
- PSMB8 6
- PSTPIP1 6
- PTCRA 3
- PTPN2 5
- PTPRC 8
- RAB27A 6
- RAC2 9
- RAG1 8
- RAG2 8
- RANBP2 4
- RASGRP1 6
- RBCK1 6
- RECQL4 4
- REL 5
- RELA 6
- RELB 6
- RFX5 6
- RFXANK 6
- RFXAP 6
- RIPK1 7
- RMRP 8
- RNASEH2A 5
- RNASEH2B 5
- RNASEH2C 5
- RNF168 5
- RNU7-1 3
- RORC 5
- RPSA 5
- RTEL1 5
- SAMD9 4
- SAMD9L 7
- SAMHD1 5
- SASH3 4
- SBDS 6
- SEC61A1 7
- SERPING1 5
- SGPL1 5
- SH2D1A 5
- SKIV2L 6
- SLC29A3 5
- SLC35C1 5
- SLC37A4 6
- SLC39A4 4
- SLC39A7 5
- SLC46A1 5
- SLC7A7 4
- SLCO2A1 3
- SMARCAL1 6
- SMARCD2 4
- SNORA31 4
- SOCS1 2
- SP110 5
- SPI1 5
- SPINK5 6
- SPPL2A 5
- SRP54 4
- STAT1 5
- STAT2 5
- STAT3 5
- STAT4 6
- STAT5B 10
- STAT6 5
- STIM1 6
- STK4 6
- STX11 5
- STXBP2 5
- STXBP3 4
- SYK 3
- TAP1 5
- TAP2 5
- TAZ 6
- TBK1 7
- TBX1 9
- TCF3 10
- TCN2 10
- TET2 5
- TFRC 7
- TGFB1 4
- TGFBR1 2
- TGFBR2 2
- TICAM1 5
- TLR3 5
- TLR7 4
- TLR8 5
- TMC6 5
- TMC8 5
- TMEFF1 3
- TMEM173 7
- TNFAIP3 5
- TNFRSF1A 6
- TNFRSF9 4
- TOP2B 4
- TPP2 5
- TRAC 5
- TRAF3 5
- TRAF3IP2 8
- TREX1 5
- TRIM22 4
- TRNT1 4
- TTC37 6
- TTC7A 5
- TYK2 5
- UNC13D 5
- UNC93B1 5
- UNG 5
- USB1 4
- USP18 7
- VPS13B 5
- VPS45 5
- WAS 8
- WDR1 7
- WIPF1 5
- XIAP 6
- ZAP70 7
- ZBTB24 5
- ZNF341 5
- ZNFX1 4
- ANGPT1 2
- AP1S3 5
- AP3D1 3
- ATAD3A 2
- BCL11B 4
- CARD8 2
- CASP10 7
- CD8A 4
- CFB 4
- CFTR 3
- CTC1 4
- DCLRE1B 8
- ERBIN 3
- FCGR3A 3
- FGL2 2
- FLT3LG 3
- FMNL2 2
- FOXI3 2
- FPR1 2
- GCC2 2
- GIMAP5 5
- GTF3A 2
- HSPA1L 6
- IGKC 2
- IL17F 3
- IL1R1 2
- IL21 4
- IL27RA 3
- IPO8 3
- IRF3 2
- IRF9 2
- ITGAV 1
- ITPKB 2
- IVNS1ABP 3
- KCNA5 2
- KRAS 2
- MAN2B2 4
- MBL2 2
- MKL1 4
- MPO 3
- NCSTN 2
- NOP10 4
- NRAS 5
- POLD3 2
- POLR3A 2
- POLR3C 2
- PSENEN 3
- PSMA3 5
- PSMB4 5
- PSMB9 5
- PTEN 5
- QSOX2 1
- RC3H1 3
- REXO2 2
- RHBDF2 2
- RHOH 4
- RNF31 6
- RNU4ATAC 3
- SCGN 2
- SENP7 1
- SLC30A2 2
- SLC9A3 3
- SRP72 2
- TAPBP 3
- TERC 3
- TERT 3
- TINF2 3
- TNFRSF11A 4
- TNFRSF13C 2
- ABI3 1
- ACTB 2
- AMFR 2
- APOL1 2
- ARHGAP42 2
- ARHGEF1 2
- ASXL1 2
- ATG4A 2
- BRCA1 0
- BRCA2 0
- C8G 2
- CARD10 2
- CD274 2
- CD28 2
- CFHR1 4
- CFHR2 2
- CFHR3 4
- CFHR4 4
- CFHR5 6
- CHUK 2
- CLCN7 2
- CNBP 4
- COLEC11 2
- COPG1 2
- CRACR2A 2
- CSF2 2
- CTNNBL1 3
- CXorf36 1
- EPCAM 2
- ERCC2 2
- ERCC3 2
- ERCC4 0
- EZR 2
- FAAP24 3
- FANCF 0
- FANCI 0
- FANCM 0
- FBF1 2
- FBRS 1
- FCGR1A 2
- FCGR2A 2
- FCGR2B 2
- FCGR3B 4
- FCGRT 2
- FCN3 4
- FOXM1 1
- FPR2 2
- FPR3 2
- GAD1 5
- GIMAP6 2
- GTF2H5 1
- HCK 2
- HS3ST6 2
- ICOSLG 4
- IFNG 2
- IGHG2 2
- IL12RB2 2
- IL17A 2
- IL18 2
- IL18BP 2
- IL22 2
- IL23A 2
- IL31RA 1
- IL37 2
- IL6 1
- INO80 6
- IRAK1 2
- ITGAM 2
- LRRC32 2
- LRRC8A 5
- LSM11 2
- LYZ 2
- MAP1LC3B2 2
- MAPK8 2
- MASP1 2
- MASP2 4
- MCM10 2
- MED13L 1
- MICA 1
- MPI 2
- MR1 2
- MRE11 3
- MS4A1 3
- MSH6 3
- MTPAP 1
- MYOF 2
- NBAS 2
- NFKBID 3
- NOS2 2
- ODC1 1
- OSTM1 2
- PARP1 1
- PDCD1 2
- PLEKHM1 2
- PMS2 5
- POLD2 2
- POLE2 2
- POLR3F 2
- POU2AF1 2
- PSEN1 3
- PSMG2 2
- PTPN22 1
- RAD50 2
- RAP1B 2
- RELN 1
- RET 3
- RGS10 2
- RHOG 2
- SAMD3 1
- SART3 3
- SEMA3E 3
- SH3BP2 3
- SH3KBP1 2
- SIRT1 2
- SLC13A4 1
- SNX10 1
- STAT5A 3
- STN1 1
- TBX21 2
- TCIRG1 1
- THBD 3
- TIRAP 2
- TLN1 1
- TNFRSF13B 8
- TNFRSF4 3
- TNFSF11 1
- TNFSF12 2
- TNFSF13 1
- TNFSF9 2
- TNIP1 1
- TOM1 2
- TSPAN14 1
- TUBGCP3 1
- UBA1 5
- UNC119 3
- WRAP53 1
- ZC3HC1 1
- ZFP36 1
- ZNF34 1
- GTF3AP5 1
STRs in panel
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Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: POLD3 Amber List (moderate evidence)
POLD3 (DNA polymerase delta 3, accessory subunit)
EnsemblGeneIds (GRCh38): ENSG00000077514
EnsemblGeneIds (GRCh37): ENSG00000077514
OMIM: 611415, Gene2Phenotype
POLD3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000077514
EnsemblGeneIds (GRCh37): ENSG00000077514
OMIM: 611415, Gene2Phenotype
POLD3 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
I don't know
Comment on list classification: As reviewed by Hannah Knight, there is one patient identified with homozygous POLD3 variant (p.Ile10Thr) and reported with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss. In addition, there is also functional evidence for this variant. Hence, this gene is promoted to amber rating.
This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.Created: 2 Nov 2023, 5 p.m. | Last Modified: 2 Nov 2023, 5 p.m.
Panel Version: 4.121
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
severe combined immunodeficiency, MONDO:0015974
Publications
Created: 2 Nov 2023, 4:55 p.m.
Last Modified: 2 Nov 2023, 4:55 p.m.
Panel version: 4.119
Last Modified: 2 Nov 2023, 4:55 p.m.
Panel version: 4.119
Hannah Knight (NIHR BioResource - University of Cambridge)
I don't know
PMID: 37030525 - homozygous POLD3 variant (p.Ile10Thr) in a consanguinous Lebanese family, presenting with a syndromic severe combined immunodeficiency (SCID) with neurodevelopmental delay and hearing loss
Sources: LiteratureCreated: 12 Oct 2023, 11:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency with neurodevelopmental delay and hearing loss
Publications
Created: 12 Oct 2023, 11:07 a.m.
Panel version: 4.40
Panel version: 4.40
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- severe combined immunodeficiency, MONDO:0015974
- OMIM
- 611415
- Clinvar variants
- Variants in POLD3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
2 Nov 2023, Gel status: 2
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pold3 has been classified as Amber List (Moderate Evidence).
2 Nov 2023, Gel status: 2
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: pold3 has been classified as Amber List (Moderate Evidence).
2 Nov 2023, Gel status: 0
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: POLD3 were changed from Immunodeficiency with neurodevelopmental delay and hearing loss to severe combined immunodeficiency, MONDO:0015974
12 Oct 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: POLD3 was added gene: POLD3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: POLD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLD3 were set to 37030525 Phenotypes for gene: POLD3 were set to Immunodeficiency with neurodevelopmental delay and hearing loss Review for gene: POLD3 was set to AMBER