Genes in panel
- AAAS 0
- AARS 0
- ABCA12 0
- ABCA3 0
- ABCA4 0
- ABCB11 0
- ABCB4 0
- ABCC2 1
- ABCC6 0
- ABCC8 0
- ABCD1 0
- ABCG5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADVL 0
- ACAT1 0
- ACE 0
- ACOX1 0
- ACTG1 0
- ACTG2 0
- ACTN1 0
- ACTN4 0
- ACVR1 0
- ACVRL1 0
- ADA 0
- ADAMTS13 0
- ADAMTSL2 0
- ADAR 0
- ADGRG1 0
- ADGRV1 1
- ADK 0
- AGA 0
- AGL 0
- AGRN 0
- AGXT 0
- AHI1 0
- AIFM1 0
- AIRE 0
- AKR1D1 0
- ALAS2 0
- ALB 0
- ALDH18A1 0
- ALDH3A2 0
- ALDH5A1 0
- ALDH7A1 1
- ALDOB 0
- ALG1 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 1
- ALMS1 0
- ALOX12B 0
- ALOXE3 0
- ALPL 0
- ALS2 0
- ALX4 0
- AMELX 0
- AMN 0
- AMT 0
- ANK1 0
- ANK2 1
- ANKH 0
- ANKRD26 1
- ANO10 0
- ANTXR2 0
- AP3B1 0
- AP4B1 1
- AP4E1 1
- AP4M1 1
- APC 0
- APOB 1
- APRT 1
- APTX 0
- AR 2
- ARFGEF2 0
- ARG1 0
- ARID1B 0
- ARMC4 0
- ARSA 0
- ARSB 0
- ARX 0
- ASL 0
- ASPA 0
- ASS1 0
- ATM 0
- ATP1A2 0
- ATP2A1 0
- ATP2B2 1
- ATP6V0A2 0
- ATP6V1B1 0
- ATP7A 1
- ATP7B 0
- ATP8B1 0
- ATRX 0
- AUH 0
- AVPR2 0
- B3GLCT 0
- BAAT 0
- BBS1 0
- BBS10 0
- BBS12 0
- BBS2 0
- BBS4 0
- BBS5 0
- BBS7 0
- BBS9 0
- BCHE 1
- BCKDHA 0
- BCKDHB 0
- BCS1L 0
- BICD2 0
- BIN1 0
- BLM 0
- BMPR1A 1
- BRAF 1
- BSCL2 1
- BSND 0
- BTD 0
- BTK 0
- CA2 0
- CABP2 0
- CACNA1A 0
- CACNA1F 0
- CAPN3 0
- CARD11 1
- CASK 0
- CASQ2 0
- CAV3 1
- CAVIN1 0
- CBL 0
- CBS 0
- CC2D2A 0
- CCDC39 0
- CCDC40 0
- CD3D 1
- CD40LG 0
- CDAN1 0
- CDC14A 1
- CDH23 0
- CDK5RAP2 1
- CDKL5 0
- CDKN1C 0
- CDSN 0
- CDT1 1
- CEP152 0
- CEP290 0
- CEP78 1
- CEP83 1
- CFC1 0
- CFL2 0
- CFP 0
- CFTR 0
- CHAT 0
- CHD2 0
- CHD7 0
- CHKB 0
- CHM 0
- CHRNA1 0
- CHRND 0
- CHRNE 0
- CHRNG 0
- CIB2 1
- CLCN5 0
- CLCN7 1
- CLDN14 0
- CLDN19 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPP 1
- CLRN1 0
- CNGB3 0
- COCH 1
- COG5 1
- COL11A1 0
- COL11A2 0
- COL17A1 0
- COL1A1 1
- COL1A2 0
- COL2A1 0
- COL3A1 0
- COL4A3 0
- COL4A4 0
- COL4A5 0
- COL5A1 0
- COL5A2 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COL7A1 0
- COL9A1 1
- COL9A2 1
- COL9A3 1
- COLQ 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CREBBP 0
- CRLF1 0
- CRTAP 0
- CSF2RA 1
- CSTB 0
- CTC1 0
- CTNS 0
- CTSD 0
- CTSK 0
- CUBN 0
- CUL7 0
- CYBA 0
- CYBB 0
- CYP11A1 0
- CYP11B1 0
- CYP21A2 0
- CYP27A1 0
- CYP27B1 0
- CYP4F22 0
- D2HGDH 0
- DBT 0
- DCLRE1C 0
- DCX 1
- DDB2 0
- DDC 0
- DFNA5 0
- DFNB59 0
- DGUOK 0
- DHCR7 0
- DIAPH1 1
- DLD 0
- DLL3 0
- DMP1 0
- DMPK 0
- DMXL2 1
- DNAAF1 0
- DNAH11 0
- DNAH5 0
- DNAI1 0
- DNAJB6 0
- DNM2 0
- DNMT3B 0
- DOCK8 0
- DOK7 0
- DOLK 1
- DPAGT1 0
- DUOX2 0
- DUOXA2 1
- DYSF 0
- EDA 0
- EDAR 0
- EDARADD 0
- EDN3 1
- EDNRB 1
- EFTUD2 0
- EGR2 0
- EIF2AK3 0
- ELANE 0
- ELN 0
- ELP1 0
- EMD 0
- ENG 0
- ENPP1 0
- EPM2A 0
- EPS8 1
- EPS8L2 1
- ERCC2 0
- ERCC5 0
- ERCC6 0
- ERCC8 0
- ESCO2 0
- ESPN 1
- ESRRB 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EVC 0
- EVC2 0
- EXT1 0
- EXT2 0
- EYA1 0
- EYA4 0
- EZH2 0
- F10 1
- F11 0
- F13A1 1
- F2 0
- F5 1
- F7 1
- F8 0
- F9 0
- FAH 0
- FAM126A 0
- FAM161A 0
- FAM20C 0
- FAM58A 0
- FANCA 0
- FANCB 0
- FANCC 0
- FANCD2 0
- FANCG 0
- FANCI 0
- FBN1 1
- FBN2 1
- FBP1 1
- FGA 0
- FGB 0
- FGD1 0
- FGD4 0
- FGF3 0
- FGFR1 0
- FGFR2 0
- FGFR3 1
- FGG 0
- FH 1
- FKRP 0
- FKTN 0
- FLCN 0
- FLNA 0
- FOXC1 0
- FOXC2 0
- FOXF1 0
- FOXI1 1
- FOXP3 0
- FRAS1 0
- FTL 0
- FUCA1 0
- FXN 0
- G6PC 0
- G6PC3 0
- G6PD 0
- GAA 0
- GALC 0
- GALK1 0
- GALNS 0
- GALT 0
- GAN 0
- GATA2 2
- GATA3 1
- GATA4 0
- GBA 0
- GCDH 0
- GCK 0
- GDAP1 0
- GFAP 0
- GFM1 0
- GFPT1 0
- GGCX 1
- GIF 2
- GIPC3 0
- GJA1 0
- GJB1 0
- GJB2 0
- GJC2 0
- GLA 0
- GLB1 0
- GLDC 0
- GLI3 0
- GLRA1 0
- GLUD1 0
- GNAS 0
- GNE 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPC3 0
- GPR143 0
- GPSM2 0
- GRHL2 2
- GRHPR 0
- GRXCR1 1
- GSS 0
- GUSB 0
- GYS2 0
- HADH 1
- HADHA 0
- HADHB 0
- HARS2 1
- HBA1 0
- HBA2 0
- HBB 0
- HDAC8 0
- HEXA 0
- HEXB 0
- HGD 0
- HGF 1
- HGSNAT 0
- HINT1 0
- HLCS 0
- HMGCL 0
- HNF4A 1
- HOMER2 1
- HPRT1 0
- HPS1 0
- HPS3 0
- HPS4 0
- HPS5 0
- HRAS 0
- HSD17B10 0
- HSD17B3 0
- HSD17B4 0
- HSD3B2 1
- HSD3B7 0
- HSPB8 0
- HSPG2 0
- HTRA1 0
- IDS 0
- IDUA 0
- IGHMBP2 0
- IGSF1 0
- IKBKG 0
- IL10RA 0
- IL2RG 0
- IL7R 1
- ILDR1 0
- INS 1
- INSR 0
- INVS 0
- IQCB1 0
- IRF6 1
- ISPD 0
- ITGA3 1
- ITGB4 0
- IVD 0
- IYD 2
- JAG1 0
- JAK3 0
- KANSL1 0
- KARS 1
- KAT6B 1
- KBTBD13 0
- KCNA1 0
- KCNJ1 0
- KCNJ11 0
- KCNJ2 0
- KCNQ4 0
- KCTD7 0
- KDM6A 0
- KIF21A 0
- KIT 0
- KLF1 1
- KLHL40 0
- KLHL41 0
- KMT2D 0
- KRAS 0
- KRT14 0
- KRT16 0
- KRT17 0
- KRT5 0
- KRT6A 0
- L1CAM 0
- LAMA2 0
- LAMA3 0
- LAMB2 0
- LAMB3 0
- LAMC2 0
- LAMP2 0
- LARGE1 0
- LARS2 1
- LDLR 0
- LEPR 0
- LHFPL5 0
- LHX3 0
- LIFR 0
- LIG4 1
- LIPA 0
- LITAF 0
- LMBRD1 0
- LMOD3 0
- LMX1B 0
- LOXHD1 0
- LRP2 0
- LRP4 0
- LRP5 0
- LRPPRC 0
- LRRC6 0
- LRSAM1 0
- LRTOMT 0
- LTBP4 0
- LYST 0
- MAFB 0
- MAGI2 0
- MAN2B1 0
- MAP2K1 0
- MAP2K2 0
- MARVELD2 0
- MBTPS2 0
- MCFD2 0
- MCOLN1 0
- MCPH1 0
- MECP2 0
- MED12 0
- MED25 1
- MEFV 0
- MEGF10 0
- MEN1 0
- MFN2 0
- MFSD8 0
- MGAT2 1
- MGP 0
- MITF 0
- MKKS 0
- MKS1 0
- MLC1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOCS1 0
- MOCS2 0
- MPDU1 1
- MPI 0
- MPL 0
- MPV17 0
- MPZ 0
- MSX2 0
- MTM1 0
- MTR 0
- MTRR 0
- MTTP 0
- MUSK 0
- MUT 0
- MUTYH 0
- MVK 0
- MYBPC1 1
- MYCN 0
- MYH14 0
- MYH2 0
- MYH3 0
- MYH7 2
- MYH9 0
- MYO15A 0
- MYO3A 0
- MYO6 0
- MYO7A 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NBN 0
- NCF1 0
- NCF2 0
- NDP 0
- NEB 0
- NEFL 0
- NEK1 1
- NEK8 1
- NEU1 0
- NEUROG3 1
- NF1 0
- NF2 0
- NGLY1 0
- NHEJ1 0
- NHLRC1 0
- NIPAL4 0
- NIPBL 0
- NKX2-1 0
- NOG 0
- NOTCH2 0
- NOTCH3 0
- NPC1 0
- NPC2 0
- NPHP1 0
- NPHP3 0
- NPHP4 0
- NPHS1 0
- NR0B1 0
- NSD1 0
- NTRK1 1
- OBSL1 0
- OCA2 0
- OCRL 0
- OFD1 0
- OPA1 0
- ORC1 0
- OSMR 0
- OSTM1 0
- OTC 0
- OTOA 0
- OTOF 0
- OTOGL 0
- P2RY12 2
- PAH 0
- PAK3 0
- PALB2 1
- PANK2 0
- PAX3 0
- PAX6 0
- PAX8 0
- PC 0
- PCCA 0
- PCCB 0
- PCDH15 0
- PCNT 0
- PDE4D 0
- PDHA1 0
- PDHX 0
- PDX1 1
- PDZD7 0
- PEX1 0
- PEX10 0
- PEX12 0
- PEX13 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PHF6 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHYH 0
- PIEZO2 0
- PIGA 1
- PIK3CD 1
- PINK1 0
- PKD1 0
- PKD2 0
- PKHD1 0
- PKLR 0
- PLA2G6 0
- PLCE1 0
- PLEC 0
- PLG 1
- PLOD1 0
- PLP1 0
- PLS1 1
- PMM2 0
- PMP22 0
- PNKD 0
- PNKP 0
- PNPO 0
- POLG 0
- POLH 0
- POMGNT1 0
- POMT1 0
- POMT2 0
- POR 0
- PORCN 0
- POU1F1 0
- POU3F4 0
- POU4F3 0
- PPT1 0
- PQBP1 0
- PRF1 0
- PRKAR1A 0
- PROC 0
- PROKR2 0
- PROP1 0
- PROS1 0
- PRX 0
- PSAP 0
- PTCH1 0
- PTEN 0
- PTH1R 0
- PTPN11 0
- PTPRC 1
- PTS 0
- PYGL 0
- PYGM 1
- QDPR 0
- RAB23 0
- RAB27A 0
- RAB3GAP1 0
- RAB3GAP2 1
- RAB7A 0
- RAF1 0
- RAG1 0
- RAG2 0
- RAI1 0
- RAPSN 0
- RASA1 0
- RB1 0
- RBM8A 0
- RDX 1
- RECQL4 0
- REN 0
- RET 0
- RETREG1 1
- RMRP 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- ROR2 0
- RPGR 0
- RPGRIP1L 0
- RPL11 0
- RPL5 0
- RPS15 0
- RPS17 0
- RPS19 0
- RPS24 0
- RPS26 0
- RPS6KA3 0
- RRM2B 0
- RS1 0
- RSPH4A 0
- RSPH9 0
- RUNX2 0
- RYR1 1
- RYR2 0
- SACS 0
- SALL1 0
- SAMHD1 0
- SBDS 0
- SCN11A 0
- SCN1A 0
- SCNN1A 0
- SCNN1B 1
- SCO2 0
- SDHD 0
- SELENON 0
- SEPT9 0
- SERPINA1 1
- SETBP1 0
- SETX 0
- SFTPB 0
- SFTPC 1
- SGCA 0
- SGCB 0
- SGCD 1
- SGCG 0
- SGSH 0
- SH2D1A 0
- SH3TC2 0
- SHANK3 1
- SHH 0
- SIL1 0
- SIX1 0
- SIX3 0
- SKI 0
- SLC12A1 0
- SLC12A3 0
- SLC12A6 0
- SLC16A2 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 0
- SLC25A13 0
- SLC25A15 0
- SLC25A20 0
- SLC25A38 0
- SLC25A4 0
- SLC26A2 0
- SLC26A3 0
- SLC26A4 0
- SLC27A4 0
- SLC2A1 0
- SLC2A10 0
- SLC34A2 0
- SLC34A3 0
- SLC35D1 0
- SLC37A4 0
- SLC39A4 0
- SLC3A1 0
- SLC45A2 0
- SLC46A1 0
- SLC4A1 0
- SLC4A11 0
- SLC5A2 0
- SLC5A5 0
- SLC6A19 1
- SLC6A5 0
- SLC6A8 0
- SLC7A7 0
- SLC7A9 0
- SLC9A6 0
- SLCO2A1 1
- SMAD3 0
- SMAD4 0
- SMARCAL1 0
- SMC1A 0
- SMN1 0
- SMPD1 0
- SMPX 0
- SOX10 0
- SOX9 0
- SP110 0
- SPEG 1
- SPINK5 0
- SPR 0
- SPRED1 0
- SPTA1 0
- SPTB 0
- SPTLC1 0
- SRCAP 0
- STAC3 1
- STAR 0
- STAT3 0
- STK11 0
- STRA6 0
- STRC 0
- STS 0
- STX11 0
- STXBP1 0
- STXBP2 0
- SUCLA2 0
- SUCLG1 0
- SUOX 0
- SURF1 0
- TAT 0
- TAZ 0
- TBC1D24 0
- TBX1 0
- TBX5 0
- TCIRG1 0
- TCOF1 0
- TECTA 0
- TFAP2A 0
- TFAP2B 0
- TFG 0
- TG 0
- TGFBR1 0
- TGFBR2 0
- TGM1 0
- TGM5 0
- TH 0
- THRA 0
- THRB 0
- TIMM8A 0
- TK2 0
- TMC1 0
- TMEM43 0
- TMEM67 0
- TMIE 0
- TMPRSS3 0
- TNFRSF11B 0
- TNFSF11 0
- TNNI2 0
- TNNT1 0
- TNNT3 0
- TP53 0
- TPM2 0
- TPM3 0
- TPO 0
- TPP1 0
- TRAPPC2 0
- TREX1 0
- TRIM32 0
- TRIM37 0
- TRIOBP 0
- TRMU 0
- TRPM4 0
- TSC1 0
- TSC2 0
- TSEN54 0
- TSHB 0
- TSHR 0
- TTC21B 1
- TTC37 0
- TTC7A 0
- TTPA 0
- TTR 0
- TWIST1 0
- TWNK 0
- TYMP 0
- TYR 0
- UBR1 0
- UGT1A1 0
- UMOD 0
- UNC13D 0
- UROD 0
- UROS 0
- USH1C 0
- USH1G 0
- USH2A 0
- VCAN 0
- VCP 0
- VDR 0
- VHL 0
- VIPAS39 0
- VLDLR 0
- VPS13A 0
- VPS13B 0
- VPS33B 0
- WAS 0
- WDR62 0
- WFS1 0
- WHRN 1
- WRAP53 1
- WRN 0
- XPA 0
- XPC 0
- ZAP70 0
- ZEB2 0
- ZIC2 0
- ZIC3 0
- ZMPSTE24 0
- ZNF469 0
- ACTA2 0
- AIP 2
- BMPR2 0
- CACNA1C 0
- CDKN2A 0
- CP 0
- CRYAB 0
- DES 0
- DKC1 0
- DMD 0
- DSC2 0
- DSG2 0
- DSP 0
- GABRG2 2
- GCH1 0
- GJA5 0
- GPD1L 0
- JUP 0
- KCNA5 0
- KCNE1 0
- KCNE2 0
- KCNH2 0
- KCNQ1 1
- KRIT1 2
- LMNA 0
- MCCC1 0
- MTHFR 0
- MYH11 0
- MYL2 0
- MYL3 0
- MYLK 0
- NKX2-5 0
- PCSK9 0
- PHOX2B 0
- PKP2 0
- RBM20 0
- SCN5A 0
- SDHAF2 0
- SDHB 0
- SDHC 0
- SNTA1 0
- TERC 0
- TERT 0
- TINF2 0
- TNNC1 0
- TNNI3 0
- TNNT2 0
- TPM1 0
- TTN 0
- VCL 0
- VWF 0
- WT1 0
- AARS2 0
- ABAT 0
- ABCB7 0
- ABCC9 0
- ABCD4 0
- ACADL 0
- ACADS 1
- ACADSB 0
- ACBD5 0
- ACO2 0
- ACSF3 1
- ACTA1 0
- ACTB 0
- ACTC1 0
- ACTN2 0
- ACVR2B 0
- ADAM17 0
- ADAMTS2 0
- AGPS 0
- AGT 0
- AGTR1 0
- AHSP 0
- AK1 0
- AKAP9 0
- AKT2 0
- AKT3 0
- ALDH1A2 0
- ALDH4A1 0
- ALDOA 0
- ALG11 0
- ALG2 0
- AMACR 0
- AMPD1 0
- ANKRD1 0
- ANO5 0
- AP1S3 0
- APOE 0
- APP 0
- ARHGAP31 0
- ARHGEF9 0
- ARID1A 0
- ARL13B 0
- ARSE 0
- ASCL1 0
- ASNS 0
- ATIC 0
- ATN1 0
- ATP1A3 0
- ATP6AP2 0
- ATR 0
- AXL 0
- B3GAT3 0
- B4GALT1 0
- B9D2 0
- BAG3 0
- BANF1 0
- BARD1 0
- BCL9 0
- BDNF 0
- BLOC1S3 0
- BLOC1S6 0
- BNC2 0
- BPGM 0
- BRCA1 0
- BRCA2 0
- BVES 0
- C3 0
- CACNA1D 0
- CACNA1S 0
- CACNA2D1 0
- CACNB2 0
- CARS2 0
- CASP10 0
- CAVIN4 0
- CCDC103 0
- CCDC50 2
- CCDC78 0
- CCDC88C 0
- CD2AP 0
- CD36 0
- CD46 0
- CD96 0
- CDH1 0
- CDON 0
- CEACAM16 0
- CENPJ 0
- CEP41 0
- CFB 0
- CFD 0
- CFH 0
- CFHR1 0
- CFHR3 0
- CFHR4 0
- CFHR5 0
- CFI 0
- CHEK2 0
- CHRM2 0
- CHRNA2 0
- CHRNB1 0
- CHST3 0
- CHSY1 0
- CISD2 0
- CITED2 0
- CLCN1 1
- CLDN1 0
- CLMP 0
- CNTNAP2 0
- COG4 0
- COG7 0
- COQ2 0
- COQ6 0
- COX4I2 0
- CPOX 0
- CPZ 0
- CR2 0
- CRELD1 0
- CSF1R 0
- CSF2RB 0
- CSRP3 0
- CSTA 0
- CTDP1 0
- CTF1 0
- CYCS 0
- CYP7A1 0
- CYP7B1 0
- DAG1 0
- DAPK3 0
- DBH 0
- DCTN1 0
- DDHD1 0
- DDOST 0
- DDR2 0
- DECR1 0
- DGKE 0
- DHCR24 0
- DIABLO 0
- DLC1 0
- DNAAF2 0
- DNAAF3 0
- DNAAF5 0
- DNAI2 0
- DNAJC19 0
- DNAJC5 0
- DNAL1 0
- DPM1 0
- DPP6 0
- DPYD 0
- DTHD1 0
- DTNA 0
- DTNBP1 0
- ECE1 0
- EFEMP2 0
- EFHC1 1
- EIF2B1 0
- EPB42 0
- EPCAM 0
- EPHX1 0
- ERBB3 0
- ERCC1 0
- ERCC3 0
- ERCC4 0
- F13B 1
- FAAH2 0
- FAM111B 0
- FANCE 0
- FANCF 0
- FANCL 0
- FANCM 0
- FBLN5 0
- FHL1 0
- FHL2 0
- FKBPL 0
- FLG 0
- FLNC 0
- FMO3 0
- FOXE1 0
- FOXF2 0
- FOXH1 0
- FOXN1 0
- FREM1 0
- FREM2 0
- FSCN2 0
- FTCD 0
- GABRA1 0
- GATA1 0
- GATA5 0
- GATA6 0
- GATAD1 0
- GBE1 0
- GCLC 0
- GCSH 0
- GDF1 0
- GDNF 0
- GFER 0
- GLE1 0
- GLI2 0
- GLIS3 0
- GLRB 0
- GLUL 0
- GMPPA 0
- GPC4 0
- GPC6 0
- GPHN 0
- GPX1 0
- GRIN2A 0
- GTF2H5 0
- GUCY2C 0
- GYG1 0
- H19 1
- HAMP 0
- HARS 0
- HAS2 0
- HCCS 0
- HCN4 0
- HERC2 0
- HESX1 0
- HFE 0
- HFE2 0
- HIBCH 0
- HK1 0
- HMBS 0
- HNF1B 0
- HOMEZ 0
- HOXA1 0
- HPD 0
- HPS6 0
- HYDIN 0
- HYLS1 0
- IFT122 0
- IFT43 0
- IFT80 0
- IGBP1 0
- IGF1 0
- IL10RB 0
- ILK 0
- IRS1 0
- ISCU 0
- ISL1 0
- ITGA6 0
- ITGA7 0
- JPH2 0
- KCND3 0
- KCNE3 0
- KCNE5 0
- KCNJ18 0
- KCNJ5 0
- KCNJ8 0
- KCNQ1OT1 0
- KCNQ2 0
- KCNQ3 0
- KDM5B 0
- KIF1B 0
- KIF1BP 0
- KIF22 0
- KPTN 0
- KRT18 0
- KRT6B 0
- KRT8 0
- LAMA4 0
- LARS 0
- LBR 0
- LDB3 0
- LGI1 0
- LHB 0
- LMNB2 0
- LPIN2 0
- LPP 0
- LRRK2 0
- LUM 0
- LYZ 0
- MAPK10 0
- MAPT 0
- MAT1A 0
- MATN4 0
- MCCC2 1
- MCEE 0
- MED13L 0
- MED20 0
- MESP2 0
- MIB1 0
- MIR96 0
- MLH1 0
- MLPH 0
- MOGS 0
- MRPS16 0
- MRPS22 0
- MSH2 0
- MSH6 0
- MSRB3 1
- MT-ND1 0
- MT-ND4 0
- MT-ND6 0
- MTO1 0
- MUC5B 0
- MYBPC3 0
- MYH6 0
- MYLK2 0
- MYO1C 0
- MYO1E 0
- MYO1F 0
- MYO5A 0
- MYOM1 0
- MYOT 0
- MYOZ2 0
- MYPN 0
- NAA10 0
- NAA15 0
- NCF4 0
- NEBL 0
- NECTIN1 0
- NEDD4L 0
- NEXN 0
- NFATC1 0
- NHP2 0
- NIN 0
- NKX3-2 0
- NLGN3 0
- NLGN4X 0
- NLRP7 0
- NME8 0
- NOP10 0
- NOTCH1 0
- NPPA 0
- NR1H4 0
- NRG1 0
- NRXN1 0
- NSDHL 0
- NUB1 0
- NUP155 0
- NUP62 0
- OPA3 0
- ORC4 0
- ORC6 0
- OTOG 1
- OTUD4 0
- P2RX2 0
- PABPN1 0
- PDE11A 0
- PDLIM3 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PEX11B 0
- PEX14 0
- PEX16 0
- PEX19 0
- PHKA1 0
- PHOX2A 0
- PLN 0
- PLOD2 0
- PMS2 0
- PNPLA1 0
- PODXL 0
- POMC 0
- PPOX 0
- PRDM16 0
- PREPL 0
- PRICKLE1 0
- PRKAG2 0
- PRKCSH 0
- PRODH 0
- PRPS1 1
- PRRX1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- RAB10 0
- RAD51B 0
- RANGRF 0
- RELN 0
- RFX6 0
- RHAG 0
- RPL35A 0
- RPS10 0
- RPS7 0
- SC5D 0
- SCN1B 0
- SCN2B 0
- SCN3B 0
- SCN4A 0
- SCN4B 0
- SCNN1G 0
- SCO1 0
- SCP2 0
- SEC63 0
- SEMA3A 0
- SERPINB6 0
- SERPINC1 0
- SERPIND1 0
- SFTPA2 0
- SH3BP2 0
- SHOC2 0
- SIX2 0
- SIX5 0
- SLC11A2 0
- SLC12A5 0
- SLC16A1 0
- SLC16A12 0
- SLC25A12 0
- SLC25A22 0
- SLC27A5 0
- SLC33A1 0
- SLC35A1 0
- SLC35A2 0
- SLC35C1 0
- SLC41A1 1
- SLC4A10 0
- SLC4A4 0
- SLC6A2 0
- SLC9A3R1 0
- SLCO1B1 0
- SLCO1B3 0
- SMAD1 0
- SMAD6 0
- SMAD9 0
- SMO 0
- SNAP29 0
- SOD1 0
- SOX18 0
- SP7 0
- SPTLC2 0
- ST14 0
- ST3GAL5 0
- SYNE4 0
- SYT14 0
- TAB2 0
- TARDBP 0
- TBCE 0
- TBX20 0
- TCAP 0
- TCTN1 0
- TCTN3 0
- TFR2 0
- TGFB1 0
- TGFB3 0
- TGIF1 0
- THBD 0
- THBS1 0
- TJP2 0
- TMC8 0
- TMEM216 0
- TMEM237 0
- TMPO 0
- TNXB 0
- TPRN 0
- TRDN 0
- TRH 0
- TRHR 0
- TRIP11 0
- TRPM2 0
- TSFM 0
- TSPEAR 0
- TSPYL1 0
- TUBA8 0
- UBA1 0
- UCP2 0
- UGT1A4 0
- UGT1A5 0
- UQCRB 0
- UQCRQ 0
- UTP4 0
- VAMP1 0
- VPS53 0
- VSX1 0
- WDR19 0
- WDR35 0
- WDR36 0
- WNK1 0
- WNT3 0
- WNT5A 0
- WNT7A 0
- YARS2 0
- ZFPM2 0
- ZNF252P 0
- ZNF674 0
- LMX1A 1
- MPZL2 1
- OSBPL2 1
STRs in panel
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Additional findings_Paediatric
Gene: LBR Red List (low evidence)
LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 14 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- BabySeq Category C gene
- BabySeq Category A gene
- Phenotypes
-
- Pelger-Huet anomaly
- Reynolds syndrome
- OMIM
- 600024
- Clinvar variants
- Variants in LBR
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Ciliopathies
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Mendeliome
History Filter Activity
27 Aug 2020, Gel status: 1
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Source BabySeq Category C gene was added to LBR. Source Expert Review Red was added to LBR. Mode of inheritance for gene LBR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Reynolds syndrome for gene: LBR Rating Changed from Green List (high evidence) to Red List (low evidence)
27 Aug 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LBR was added gene: LBR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LBR were set to Pelger-Huet anomaly