- Panels
- COVID-19 research
- FANCI
- 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
COVID-19 research
Gene: FANCI Green List (high evidence)EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 21 panels
1 review
Sophie Hambleton (Newcastle University)
Green List (high evidence)
IUIS geneCreated: 27 Apr 2020, 2:46 p.m. | Last Modified: 27 Apr 2020, 2:46 p.m.
Panel Version: 0.163
Phenotypes
Fanconi anaemia; bone marrow failure
Last Modified: 27 Apr 2020, 2:46 p.m.
Panel version: 0.163
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- IUIS Classification December 2019
- Phenotypes
-
- Fanconi anemia, complementation group I, 609053
- Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
- Fanconi Anemia Type I
- Bone marrow failure
- OMIM
- 611360
- Clinvar variants
- Variants in FANCI
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
History Filter Activity
Added New Source, Set Phenotypes, Status Update
Ellen McDonagh (Genomics England Curator)Source Expert Review Green was added to FANCI. Added phenotypes Fanconi anemia, complementation group I, 609053; Bone marrow failure; Fanconi Anemia Type I; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage for gene: FANCI Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FANCI was added gene: FANCI was added to Viral susceptibility. Sources: IUIS Classification December 2019 Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 32086639; 32048120 Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Bone marrow failure; Fanconi Anemia Type I; Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage