- Panels
- COVID-19 research
- GTF2H5
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: GTF2H5 Red List (low evidence)
GTF2H5 (general transcription factor IIH subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000272047
EnsemblGeneIds (GRCh37): ENSG00000272047
OMIM: 608780, Gene2Phenotype
GTF2H5 is in 10 panels
1 review
Louise Daugherty (Genomics England Curator)
Red List (low evidence)
Trichothiodystrophy: green association (3 unrelated cases), ?phenotype relevant: recurrent infective exacerbations of asthmaCreated: 26 Sep 2019, 3:54 p.m. | Last Modified: 26 Sep 2019, 3:54 p.m.
Panel Version: 1.130
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene RedCreated: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene RedCreated: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019Created: 26 Sep 2019, 2:54 p.m. | Last Modified: 26 Sep 2019, 2:54 p.m.
Panel Version: 1.127
Created: 17 Sep 2019, 1:43 p.m.
Last Modified: 17 Sep 2019, 1:43 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.130
Last Modified: 17 Sep 2019, 1:43 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.130
Details
- Mode of Inheritance
- Unknown
- Sources
-
- London North GLH
- NHS GMS
- North West GLH
- London North GLH
- NHS GMS
- North West GLH
- OMIM
- 608780
- Clinvar variants
- Variants in GTF2H5
- Penetrance
- None
- Panels with this gene
-
- Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Structural eye disease
- Fetal anomalies
- COVID-19 research
- White matter disorders and cerebral calcification - narrow panel
- Bilateral congenital or childhood onset cataracts
- Anophthalmia or microphthalmia
- Intellectual disability
History Filter Activity
1 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: GTF2H5 was added gene: GTF2H5 was added to Viral susceptibility. Sources: North West GLH,NHS GMS,London North GLH Mode of inheritance for gene: GTF2H5 was set to Unknown