- 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 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 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 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
- CD48 1
- DUOX2 1
- FGR 1
- GINS4 1
- GTF3AP5 1
- IKBKE 1
- KARS 1
- LY96 1
- MYB 1
- NFATC1 1
- NFATC2 1
- NOX1 1
- OSMR 1
- PAX5 1
- PTPN6 1
- SEPT6 1
- SH2B3 1
- SHARPIN 1
Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MYB No listEnsemblGeneIds (GRCh38): ENSG00000118513
EnsemblGeneIds (GRCh37): ENSG00000118513
OMIM: 189990, Gene2Phenotype
MYB is in 1 panel
1 review
Boaz Palterer (University of Florence)
Green List (high evidence)
Aaron Boothby et al. presented ten heterozygous germline MYB variants in seven families and four unrelated singletons. The variants segregated with autoimmune cytopenias, including Evans syndrome, in three five-generation pedigrees. In our cohort of 41 carriers, 22 were affected by autoimmune cytopenias, while one had isolated B cell lymphopenia and neutropenia.
https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.16/281957/MYB-Haploinsufficiency-Causes-Familial-Autoimmune
Sources: LiteratureCreated: 17 Jun 2026, 1:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia
Panel version: 9.9
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Phenotypes
-
- Evans syndrome
- Neutropenia
- Autoimmune cytopenias
- B cell lymphopenia
- OMIM
- 189990
- Clinvar variants
- Variants in MYB
- Penetrance
- Incomplete
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Boaz Palterer (University of Florence)gene: MYB was added gene: MYB was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: MYB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYB were set to Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia Penetrance for gene: MYB were set to Incomplete Review for gene: MYB was set to GREEN