Sarcoidosis, Susceptibility To, 1; Ss1

Description

Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994).

Genes related to Sarcoidosis, Susceptibility To, 1; Ss1

BTNL2
HLA-DRB1

Clinical Features

Top most frequent phenotypes and symptoms related to Sarcoidosis, Susceptibility To, 1; Ss1

Cataract
Anemia
Peripheral neuropathy
Hepatomegaly
Splenomegaly
Edema
Fever
Blindness
Renal insufficiency
Arrhythmia

And another 87 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Sarcoidosis, Susceptibility To, 1; Ss1 have a estimated prevalence of 12.5 per 100k in Europe.

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Sarcoidosis, Susceptibility To, 1; Ss1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Prostate Cancer Panel. By CeGaT GmbH in Germany. BRCA1, BRCA2, ELAC2, RNASEL, ZFHX3, AR, CDH1, CHEK2, HOXB13, BTNL2, MSR1, MXI1, CD82 Specificity 8 % Genes 50 %
BTNL2. By Fulgent Genetics Fulgent Genetics in United States. BTNL2 Specificity 100 % Genes 50 %
Sarcoidosis , Polymorphism (rs2076530 (G>A) BTNL2 Gene. By Reference Laboratory Genetics in Spain. BTNL2 Specificity 100 % Genes 50 %
Narcolepsy Risk Factor. By Bioscientia GmbH Center for Human Genetics in Germany. HLA-DQB1, HLA-DRB1 Specificity 50 % Genes 50 %
HLA-DRB1. By Fulgent Genetics Fulgent Genetics in United States. HLA-DRB1 Specificity 100 % Genes 50 %
Tempus xT assay. By Tempus Labs, Inc. in United States. BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1, SDHAF2, HNF1B, RET, MC1R, MTRR, CASP8, CYP1B1, KIF1B, SDHC, RAF1, FH, IDH2, SOD2, SDHB, TUSC3, ATIC, TAP1, AMER1, BCOR, PRKN, SOX2, ZFHX3, TMEM127, STAT3, MEN1, SDHA, TSHR, FGFR3, AR, CFTR, FANCC, BLM, BRAF, CREBBP, HRAS, KRAS, LDLR, MAP2K1, NRAS, PTPN11, FGFR2, RIT1, MAP2K2, TSC2, RAD21, CBL, SMC3, SMC1A, TSC1, NSD1, ALK, ATM, MRE11, NBN, PTCH1, PHOX2B, NF2, PALB2, SUFU, CDH1, STK11, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, RAD50, BRIP1, GATA2, PAX5, CEBPA, PRKAR1A, CDC73, RAD51C, BARD1, ENG, PMS1, RAD51D, G6PD, UGT1A1, MPL, BTK, DPYD, DNM2, LMNA, NTRK1, NOTCH3, NF1, FGFR1, FGF8, CASR, FGF23, PDK1, FGF14, CHD2, GRIN2A, KMT2D, SETD2, TBL1XR1, ATRX, PHF6, KDM5C, SETBP1, HGF, ERCC2, ERCC3, SOX10, FGF3, GATA3, MED12, FOXP1, ARID1B, CTNNB1, LZTR1, GATA1, RPL5, RASA1, SEC23B, FANCB, DKC1, RBM10, TAF1, SOX9, SPRED1, MTOR, ABCB1, ATR, NOTCH1, SMAD3, TGFBR2, ACTA2, MYH11, DNMT3A, EZH2, MITF, TP63, KDM6A, CTNNA1, MAF, TERT, NKX2-1, TPM1, ERBB3, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, NT5C2, FLT4, FGF10, SPINK1, PRSS1, CTRC, H19, EP300, KIT, ASXL1, JAK3, SH2B3, MGMT, CALR, CTC1, NHP2, NOP10, GNAS, SMAD2, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, CYP2D6, XRCC2, BAP1, CDKN1B, VEGFA, ERCC4, RPS15, GATA4, PIK3CA, MYCN, CSF1R, APOB, POLD1, GREM1, AKT2, GATA6, GNAQ, FLT3, NPM1, TPMT, EGFR, JAK2, ABL1, ZRSR2, U2AF1, TET2, STAG2, SRSF2, SF3B1, PDGFRA, MYD88, IKZF1, IDH1, FBXW7, ETV6, CUX1, CSF3R, CBLB, BCORL1, CBLC, CD40, IFNGR1, IFNGR2, IL7R, ABRAXAS1, POLE, AXIN2, GNA11, PIK3R2, AKT3, AKT1, FAS, CXCR4, STAT5B, BCR, PIK3CD, NFKBIA, CIITA, RANBP2, CTLA4, IL10RA, PIK3R1, CD19, MS4A1, NOTCH2, EPOR, TRAF3, TMEM173, POT1, CARD11, NTRK2, IL2RA, CCND2, DYNC2H1, MAP3K1, ASNS, SRC, RUNX1T1, CDK6, CTCF, WRN, EGLN1, UBE2T, PAX8, DICER1, PDGFRB, KMT2B, ERCC5, XPA, RAD51, BUB1B, GALNT12, NSD2, CYLD, FLG, FLT1, KDR, TNFAIP3, LYN, PLCG2, B2M, CD79A, CD79B, FCGR2A, HLA-DQB1, HLA-B, KEL, HLA-DQA1, TYMS, HOXB13, NTHL1, DDX3X, KAT6A, MIB1, XPC, UMPS, FGF9, CCND1, SLC26A3, BCL2, HDAC4, IFNL3, TBX3, CDK12, ARID5B, POLH, MTAP, DIS3L2, DDB2, ABL2, MALT1, MLH3, ETV5, MDM2, DDR2, PALLD, EGF, MAFB, PML, MSH3, ERBB2, CBFB, ERCC1, RARA, TCF3, MLLT3, EPHA2, CDKN2B, CEP57, PTCH2, SMO, BCL6, MYC, BIRC3, CKS1B, CDKN2C, RNF43, RXRA, FAT1, MAD2L2, CD70, AXL, CHD4, CIC, MAP3K7, PPP2R1A, ERBB4, KDM5A, RICTOR, RAC1, GLI1, HLA-DRB1, CCNE1, NRG1, KEAP1, NFE2L2, ARAF, BRD4, GNA13, RPTOR, ROS1, MYCL, NTRK3, FGFR4, KMT2C, ESR1, RINT1, CYP3A5, XRCC3, PRSS2, BCL10, TNF, CRLF2, AXIN1, EWSR1, FCGR3A, TAP2, PAX7, MAPK1, PIK3CB, CRKL, PIK3CG, FOXA1, GSTP1, IRS2, IRF4, IFNAR2, IL6R, IRF1, DIRC2, EPHB2, ZNF750, RNF139, TCF7L2, RAD54L, PTPN22, GRM3, GPS2, CBR3, MYB, NQO1, CD22, CDKN1A, CCND3, CDK8, NCOR1, CD274, FUBP1, FOXO3, FRS2, FNTB, GEN1, FGF2, ETS1, FGF5, FDPS, TENT5C, FHIT, ERG, FGF1, FGF7, ETS2, FBXO11, ERRFI1, FGF6, EPHA7, ELF3, ECT2L, DOT1L, EBF1, EPHB1, PDCD1LG2, DAXX, PBRM1, PDCD1, PCBP1, DIS3, PAK1, NUP98, NUDT15, CHEK1, VSIR, MKI67, BCL7A, EMSY, BCLAF1, MCL1, C3orf70, MAP2K4, MDM4, C11orf65, ARHGAP26, LMO1, AURKB, ARHGAP35, BCL2L11, LEF1, LRP1B, ITPKB, HSP90AA1, IL15, INPP4B, ING1, IKBKE, IRF2, KLHL6, IFIT1, KLLN, JUN, IFIT3, JAK1, IDO1, IFNAR1, IFIT2, AJUBA, HSPH1, HLA-F, HLA-DRA, HIF1A, HDAC2, HIST1H4E, HAVCR2, HIST1H1E, HLA-DPA1, HLA-DPB1, HLA-E, HLA-DOA, HDAC1, HLA-DMB, HLA-DMA, HLA-DOB, HAS3, HLA-DQA2, HLA-DQB2, PIAS4, PRDM1, PIM1, PPP1R15A, PREX2, PPP2R2A, PIK3C2B, PRCC, TMPRSS2, UGT1A9, TOP2A, TNFRSF9, TNFRSF14, TNFRSF17, ZNF217, XPO1, TIGIT, XRCC1, ZNF620, ZNF471, STAT4, TANC1, SPOP, STAT5A, SOCS1, SLIT2, SPEN, TCL1A, SYK, STAT6, SLC47A2, RSF1, SCG5, SGK1, RPS6KB1, PTPN13, RAD51B, QKI, PTPRD, ABCC3, ACVR1B, BTG1, ETV1, FOXO1, ETV4, HLA-A, BCL11B, H3F3A, BCL2L1, RHOA, NCOR2, SUZ12, SMARCA1, FGF4, P2RY8, TOP1, AURKA, MEF2B, CCDC6, LAG3, HLA-G, PDPK1, SEMA3C, C8orf34, POU2F2, YEATS4, WEE1, TBC1D12, FOXQ1, ZNRF3, PPP6C, HLA-C, HLA-DRB5 Specificity 1 % Genes 50 %

Alternate names

Sarcoidosis, Susceptibility To, 1; Ss1 Is also known as sarcoidosis, boeck sarcoid;besnier-boeck-schaumann disease; boeck sarcoid; boeck's sarcoid.

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