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 5
- CD55 4
- CD59 4
- CD70 5
- CD79A 7
- CD79B 6
- CD81 5
- CDC42 3
- CDCA7 4
- CEBPE 5
- CFD 4
- CFH 5
- 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 6
- 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 5
- 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
- BRF2 1
- CARD8 2
- CASP10 7
- CD8A 4
- CFB 5
- 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 5
- MPO 3
- NCSTN 2
- NOP10 4
- NRAS 5
- PLCG1 1
- 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 7
- RNU4ATAC 3
- RNU6ATAC 1
- SCGN 2
- SENP7 1
- SLC19A1 1
- SLC30A2 2
- SLC9A3 3
- SRP72 2
- TAPBP 4
- 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
- BIRC3 1
- CD48 1
- DUOX2 1
- FGR 1
- GINS4 1
- GTF3AP5 1
- IKBKE 1
- ITGAL 1
- KARS 1
- LY9 1
- LY96 1
- MYB 1
- NFATC1 1
- NFATC2 1
- NOX1 1
- OSMR 1
- PAX5 1
- PTPN6 1
- SEPT6 1
- SH2B3 1
- SHARPIN 1
- SIT1 1
STRs in panel
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Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: BIRC3 No list
BIRC3 (baculoviral IAP repeat containing 3)
EnsemblGeneIds (GRCh38): ENSG00000023445
EnsemblGeneIds (GRCh37): ENSG00000023445
OMIM: 601721, Gene2Phenotype
BIRC3 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000023445
EnsemblGeneIds (GRCh37): ENSG00000023445
OMIM: 601721, Gene2Phenotype
BIRC3 is in 1 panel
1 review
Boaz Palterer (University of Florence)
Green List (high evidence)
Qi Li et al. described 14 patients from 10 unrelated families with monoallelic and biallelic variants in BIRC3 presenting with CD. Biallelic variants present more severe and earlier. Extensive funtional validation including zebrafish and mice models, recapitulating phenotype
https://www.gastrojournal.org/article/S0016-5085(26)06946-5/fulltext
Sources: LiteratureCreated: 24 Jun 2026, 3:20 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Inflammatory bowel disease; IBD; Crohn's disease
Created: 24 Jun 2026, 3:20 p.m.
Panel version: 9.16
Panel version: 9.16
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Inflammatory bowel disease
- IBD
- Crohn's disease
- OMIM
- 601721
- Clinvar variants
- Variants in BIRC3
- Penetrance
- unknown
- Panels with this gene
History Filter Activity
24 Jun 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Boaz Palterer (University of Florence)gene: BIRC3 was added gene: BIRC3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: BIRC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: BIRC3 were set to Inflammatory bowel disease; IBD; Crohn's disease Penetrance for gene: BIRC3 were set to unknown Review for gene: BIRC3 was set to GREEN