Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Genes related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2

ZBTB24

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Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2

Intellectual disability
Global developmental delay
Growth delay
Hypertelorism
Abnormal facial shape
Low-set ears
High palate
Motor delay
Depressed nasal bridge
Epicanthus

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2; Icf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Immunodeficiency-centromeric instability-facial anomalies syndrome type2. By Centogene AG - the Rare Disease Company (Germany). ZBTB24 Specificity 100 % Genes 100 %
Syndromes with immunodeficiency Panel. By CeGaT GmbH (Germany). RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR , (...) View the complete list with 18 more genes Panel complete gene list RMRP, RUNX2, BLM, SMARCAL1, STAT3, TBX1, TERC, TERT, TINF2, TREX1, TYK2, WAS, NHP2, SPINK5, SAMHD1, NLRP3, RNASEH2A, DOCK8, ZBTB24, ADAR, RNASEH2C, RNASEH2B, RNF168, DKC1, DNMT3B, FCGR3A, FGF10, FGFR2, CFH, NOD2, SP110, RPSA, MCM4, MRE11, NBN, ATM, PDGFRA, PMS2 Specificity 3 % Genes 100 %
Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel. By Invitae (United States). ZBTB24, DNMT3B Specificity 50 % Genes 100 %
Invitae Primary Immunodeficiency Panel. By Invitae (United States). RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...) View the complete list with 187 more genes Panel complete gene list RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2, TERC, TERT, TINF2, TLR3, TNFRSF1A, TNFRSF4, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TRAF3, TREX1, ACP5, TYK2, UNG, WAS, WIPF1, FOXN1, ZAP70, ACTB, AICDA, TRAF3IP2, UNC93B1, ITCH, BLNK, NHP2, NOP10, LPIN2, VPS45, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, CARD9, CARD11, NLRP3, IL17F, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, HAX1, CD79A, CD79B, CD8A, TRNT1, LRBA, DCLRE1B, DCLRE1C, TNFRSF13C, IRAK4, TMC6, TNFRSF13B, TICAM1, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, IFIH1, DOCK8, ADAM17, LYST, TTC7A, SLC35C1, TMC8, CHD7, ZBTB24, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF3R, G6PC3, MOGS, CTLA4, ACD, CTPS1, CTSC, CXCR4, RNASEH2B, NHEJ1, CYBA, CYBB, ORAI1, CTC1, JAGN1, TMEM173, MAGT1, DKC1, EPG5, DNMT3B, LAMTOR2, DOCK2, CLPB, ELANE, FADD, AIRE, AK2, FPR1, ISG15, SLC37A4, GATA2, GFI1, TAP1, TAP2, NOD2, ICOS, IRF8, SP110, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, IRF7, ITGB2, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, MEFV, CIITA, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, PNP, ATM, BLOC1S6, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, B2M, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %
Invitae Syndromic Combined Immunodeficiency (CID) Panel. By Invitae (United States). RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A , (...) View the complete list with 17 more genes Panel complete gene list RMRP, SEMA3E, SMARCAL1, STAT3, STAT5B, STIM1, TBX1, TCN2, TERC, TERT, TINF2, WAS, WIPF1, FOXN1, NHP2, NOP10, SPINK5, RTEL1, DCLRE1B, TTC7A, CHD7, ZBTB24, ACD, ORAI1, CTC1, DKC1, EPG5, DNMT3B, SP110, NBN, NFKBIA, PNP, ATM, PARN, PGM3, PMS2, POLE Specificity 3 % Genes 100 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics (United States). BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2 , (...) View the complete list with 367 more genes Panel complete gene list BCS1L, RPS6KA3, SACS, BIN1, SCN1A, SCN8A, SDCCAG8, SGCA, SGSH, ST3GAL3, SLC16A2, SLC20A2, SLC25A12, SLC25A13, SLC25A15, SLC2A1, SLC2A2, BRCA2, SLC4A4, SLC5A2, SLC5A5, SLC6A4, SLC6A8, SLC7A7, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX10, SOX2, SOX3, ATL1, SPR, SPTAN1, SPTLC1, STAT5B, CDKL5, STX11, STXBP1, SUCLG1, BUB1B, SYNGAP1, SYP, TBCE, TBX1, TGIF1, TH, THRB, TINF2, TSPAN7, ACOX1, TSC1, TSC2, CEP41, TTR, TUBA8, TWIST1, UBE2A, UBE3A, USP9X, VLDLR, WRN, XIST, ZIC2, ZBTB16, MRAP, FTSJ1, HDAC8, MCOLN1, NSDHL, GFM1, CNTNAP2, ABCG5, CACNG2, HDAC4, PCDH19, NLGN3, SHANK3, SHANK2, IRX5, NHP2, ELOVL4, NPC2, COG5, ZEB2, CASK, MBTPS2, CBS, NDUFAF5, SAMHD1, PCNT, UPB1, RAB39B, HAX1, PRICKLE1, CPA6, BRWD3, TPK1, CDH15, ACY1, PDSS1, CDKN1C, FKRP, ARID1B, ARX, TMCO1, ATP6AP2, ZDHHC9, COG7, ZFP57, CAMTA1, ASPM, POMGNT1, KIF21A, ALG12, CHRNA4, LYST, CANT1, POMT2, CCDC88C, SLC35C1, UPF3B, MBD5, BRIP1, CHD7, PHF8, TPH2, CLN3, ZFYVE26, TUBA1A, TUBB3, ZBTB24, PDHX, RFX6, AHI1, SATB2, VPS13B, KCTD7, COL1A2, ADAR, CP, GNPTG, LMBRD1, SYT14, ALG6, KIRREL3, PIGO, CRADD, TTC37, MED23, MED17, SLX4, GLYCTK, WDR62, FAM126A, SIL1, EHMT1, FTO, G6PC3, TMEM216, CTNNB1, MMADHC, RAB40AL, DARS2, CUL4B, OFD1, NHEJ1, SRD5A3, NSUN2, PIGV, CYP27A1, TMEM70, CTC1, HEPACAM, UROC1, WDR81, AMER1, DBT, XPNPEP3, D2HGDH, TMEM67, MFSD8, DHCR24, DHCR7, CYB5R3, NIPBL, MAGT1, DLG3, CEP290, IQSEC2, ADSL, RPGRIP1L, TBC1D24, SHROOM4, CC2D2A, SOBP, DMD, DIP2B, DYNC1H1, MTFMT, GNPTAB, BBS9, DPYD, CRBN, ATP13A2, CC2D1A, TUSC3, KIF7, SLC46A1, SNIP1, STRA6, SRPX2, TMEM165, CEP57, TUBB2B, TRAPPC9, HUWE1, DYRK1A, EBP, AFP, AGL, EFNB1, ALG11, AGTR2, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, F5, ACSL4, FANCG, FBLN5, FBN1, FBN2, FKTN, FGD1, FGF14, FGFR1, FGFR2, FGFR3, FMR1, AFF2, FOXG1, FOXP1, ALDH4A1, GABRG2, GALE, GAMT, GAN, GBA, GBE1, GCK, GDI1, GFAP, GHR, GLI3, GLRA1, GLUL, GM2A, GNAS, GNPAT, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GSS, GUSB, GYS2, HSD17B10, HEXB, HOXD10, HPD, HSPD1, IDS, IGBP1, IGF1, IGF1R, AP1S1, AP1S2, AP3B1, ABCC6, AP4B1, AP4E1, AP4M1, AP4S1, IL1RAPL1, INSR, ABCD1, ITGA7, KCNJ10, KCNJ11, KCNK9, KCNQ2, KIF5A, KIF11, AQP7, KRAS, AR, L1CAM, LAMA2, LAMP2, LARGE1, LBR, LHX3, LIG4, ARG1, LRP5, MAN1B1, MAN2B1, MANBA, ARHGEF6, MAPT, MAT1A, MCCC1, MCCC2, MCPH1, MECP2, MEF2C, MGAT2, MKKS, MOCS2, MPI, MPZ, MTHFR, MTR, MYCN, ASS1, MYO5A, MYO7A, NAGA, NBN, NDP, NDUFA1, NDUFS1, NF1, NGF, NPC1, NPHP3, ATM, ATP1A2, NRXN1, OPHN1, ORC1, PAFAH1B1, PAH, PAK3, PAX6, ATP7A, AIFM1, PDE4D, ATRX, PEX7, KIF1A, PGK1, AUH, PHKA2, PHKG2, AVP, PIGL, AVPR2, PLA2G6, PLP1, POMT1, POU1F1, CTSA, PPOX, ACAT1, PQBP1, PRKAR1A, PRSS12, PTEN, PTPN11, PYCR1, ALDH18A1, PYGL, RAI1, RAPSN, RBBP8, RBM10 Specificity 1 % Genes 100 %
ZBTB24. By Fulgent Genetics Fulgent Genetics (United States). ZBTB24 Specificity 100 % Genes 100 %
Primary Immunodeficiency Panel. By Blueprint Genetics (Finland). RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...) View the complete list with 253 more genes Panel complete gene list RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, THBD, TINF2, TNFAIP3, TNFRSF1A, TNFRSF4, CD40, FAS, CD27, CD40LG, FASLG, CD70, TREX1, SERPING1, ACP5, C1QA, C1QB, TYK2, C1QC, C1S, C2, UNG, USP18, WAS, WIPF1, WDR1, FOXN1, ZAP70, IKZF1, C3, ACTB, AICDA, BCL11B, TRAF3IP2, SAMD9, UNC93B1, SAMD9L, BACH2, BLNK, MRTFA, NLRP1, NHP2, NOP10, LPIN2, VPS45, CDCA7, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, RNF31, CD19, CARD9, CARD11, NLRP3, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, CD59, HAX1, HYOU1, CD79A, CD79B, CD81, CD8A, NCSTN, COLEC11, TRNT1, LRBA, DCLRE1B, DCLRE1C, IRAK4, TMC6, TNFRSF13B, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, CFTR, IFIH1, LAT, DDX58, DOCK8, SBDS, ADAM17, LYST, TTC7A, SLC35C1, CLCN7, TMC8, CHD7, ZBTB24, IRF2BP2, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF2RB, CSF3R, G6PC3, MOGS, CTLA4, ACD, OTULIN, CTPS1, CTSC, WRAP53, CXCR4, OFD1, RNASEH2B, NHEJ1, CYBA, CYBB, USB1, ORAI1, CTC1, CD55, RNF168, ERCC6L2, JAGN1, DNAJC21, CARMIL2, CFD, TMEM173, DGKE, MAGT1, DKC1, GINS1, EPG5, DNMT3B, LAMTOR2, DOCK2, PSENEN, SLC46A1, CLPB, ELANE, RNU4ATAC, EXTL3, FADD, AIRE, AK2, ISG15, G6PD, SLC37A4, GATA2, GFI1, TAP1, TAP2, HELLS, CFH, NOD2, ICOS, IRF8, CFI, SP110, IFNAR2, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, ITGB2, ITK, JAK1, JAK3, KRAS, RPSA, LCK, LIG4, MALT1, MAP3K14, RHOH, MASP1, CD46, MEFV, ARPC1B, CIITA, MRE11, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NSMCE3, NFKB1, NFKB2, NFKBIA, PNP, ATM, NRAS, PARN, PEPD, CFP, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PMS2, POLE, POLE2, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, BCL10, RECQL4, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %

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Sources and references

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