- Analytes
- HPS4
HPS4
Name: |
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2
|
Symbol: |
HPS4
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Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
BLOC3S2
KIAA1667
LE
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
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Changed: |
22 Jun 2023 - 16:14
|
- Child Interstitial Lung Disease (child - gene panel)
- Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
- Oculocutaneous albinism / Ocular albinism / Isolated nystagmus (gene panel)
- Primary immune deficiencies (gene panel)
- Pulmonary Fibrosis (gene panel) + rs35705950 of MUC5B gene
- Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
- Skin disorders (gene panel)
- Trombosis - Hemostasis (gene panel)
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Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 AAGAB 97.88 0 ABCA12 100.00 0 ABCB6 100.00 0 ABCC6 99.97 0 ABHD5 100.00 0 ACD 100.00 0 ADAM10 100.00 0 ADAMTS2 95.82 0 ADAR 100.00 0 AIM1 100.00 0 AKT1 100.00 0 ALDH18A1 100.00 0 ALDH3A2 99.94 0 ALOX12B 100.00 0 ALOXE3 100.00 0 ANTXR1 100.00 0 AP1S1 100.00 0 AP3B1 100.00 0 APCDD1 99.97 0 AQP5 99.87 0 ARHGAP31 100.00 0 ARSL 99.95 0 ASAH1 100.00 0 ATM 100.00 0 ATP2A2 100.00 0 ATP2C1 100.00 0 ATP6V0A2 99.98 0 ATP6V1A 100.00 0 ATP6V1E1 99.99 0 ATP7A 100.00 0 AXIN2 100.00 0 B3GALT6 63.11 0 B4GALT7 90.91 0 BANF1 97.55 0 BCS1L 100.00 0 BLM 100.00 0 BLOC1S3 95.69 0 BLOC1S6 100.00 0 BRAF 96.86 0 LRMDA 100.00 0 KDF1 100.00 0 CARD14 99.96 0 CBL 100.00 0 CBS 99.92 0 CD151 99.99 0 CDH3 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 99.69 0 CDSN 99.93 0 CERS3 100.00 0 CHST14 99.81 0 CHST8 100.00 0 CHUK 99.59 0 CLCF1 100.00 0 CLDN1 100.00 0 CLDN10 100.00 0 COG6 100.00 0 COL11A1 100.00 0 COL12A1 100.00 0 COL17A1 100.00 0 COL1A1 100.00 0 COL1A2 99.41 0 COL3A1 99.99 0 COL5A1 98.23 0 COL5A2 100.00 0 COL7A1 100.00 0 CREBBP 99.98 0 CRLF1 89.67 0 CSTA 100.00 0 CTC1 99.71 0 CTSC 100.00 0 CYLD 100.00 0 CYP26C1 97.30 0 CYP4F22 99.27 0 DDB2 100.00 0 DIP2B 99.71 0 DKC1 99.92 0 DLL4 100.00 0 DLX3 99.95 0 DNMT1 99.69 0 DOCK6 99.13 0 DOLK 100.00 0 DSC3 98.96 0 DSE 100.00 0 DSG1 100.00 0 DSG2 99.89 0 DSG4 100.00 0 DSP 100.00 0 DST 100.00 0 DTNBP1 99.96 0 GLB1 100.00 0 ECM1 100.00 0 EDA 99.05 0 EDAR 100.00 0 EDARADD 100.00 0 EDN3 99.95 0 EDNRB 100.00 0 EFEMP2 100.00 0 ELN 99.96 0 ELOVL4 100.00 0 ENPP1 97.25 0 EOGT 100.00 0 EP300 100.00 0 EPG5 99.99 0 ERCC2 99.35 0 ERCC3 100.00 0 ERCC4 99.99 0 ERCC5 100.00 0 ERCC6 100.00 0 ERCC8 100.00 0 EVC 94.53 0 EVC2 98.69 0 EXPH5 100.00 0 F12 99.81 0 FAM111B 100.00 0 RETREG1 93.87 0 FAM83G 100.00 0 FBLN5 100.00 0 FBN1 100.00 0 FBN2 100.00 0 FERMT1 99.96 0 FGFR2 100.00 0 FGFR3 99.36 0 FH 100.00 0 FKBP14 100.00 0 FLCN 100.00 0 FGFR1 100.00 0 FLG2 100.00 0 FOXN1 100.00 0 FZD6 100.00 0 GALNT3 100.00 0 GAN 98.95 0 GBA1 100.00 0 GGCX 99.91 0 GHR 99.21 0 GJA1 100.00 0 GJB2 100.00 0 GJB3 100.00 0 GJB4 100.00 0 GJB6 100.00 0 GLA 100.00 0 GNAS 100.00 0 GORAB 100.00 0 GPR143 89.17 0 GRHL2 100.00 0 GSN 97.95 0 GTF2E2 100.00 0 GTF2H5 100.00 0 HAMP 100.00 0 HCCS 100.00 0 HDAC8 99.82 0 HFE 100.00 0 HJV 100.00 0 HGD 100.00 0 HLCS 100.00 0 HOXC13 96.56 0 HPGD 99.87 0 HPS1 100.00 0 HPS3 99.99 0 HPS4 99.99 0 HPS5 100.00 0 HPS6 96.32 0 HR 99.78 0 HRAS 100.00 0 IFT122 99.99 0 IFT43 100.00 0 ELP1 100.00 0 IKBKG 96.27 0 IL31RA 100.00 0 INSR 96.81 0 ITGA3 99.99 0 ITGA6 100.00 0 ITGB4 98.77 0 JUP 100.00 0 KANK2 99.99 0 KCNH1 100.00 0 KCTD1 100.00 0 KDM6A 99.63 0 KDSR 99.98 0 KIF1A 99.07 0 KIT 99.98 0 KITLG 100.00 0 KL 96.52 0 KLHL24 100.00 0 KLLN 100.00 0 KMT2D 99.99 0 KRAS 100.00 0 KREMEN1 92.10 0 KRT1 99.80 0 KRT10 99.93 0 KRT14 100.00 0 KRT16 99.48 0 KRT17 92.10 0 KRT2 100.00 0 KRT5 100.00 0 KRT6A 100.00 0 KRT6B 100.00 0 KRT6C 99.44 0 KRT71 99.95 0 KRT74 99.99 0 KRT81 100.00 0 KRT83 99.99 0 KRT85 99.27 0 KRT86 99.98 0 KRT9 100.00 0 LAMA4 99.75 0 LAMB3 100.00 0 LAMC2 99.43 0 LEMD3 99.97 0 LIPH 100.00 0 LIPN 100.00 0 LMNA 99.52 0 LMX1B 99.55 0 LORICRIN 100.00 0 LPAR6 100.00 0 LRP1 100.00 0 LTBP4 99.49 0 LYST 100.00 0 LZTR1 99.92 0 MAP2K1 100.00 0 MAP2K2 99.99 0 MAPRE2 100.00 0 MBTPS2 100.00 0 MC1R 100.00 0 MEN1 99.83 0 MITF 100.00 0 MLH1 99.99 0 MLPH 100.00 0 MMP1 99.99 0 MMP2 99.93 0 MPDU1 100.00 0 MPLKIP 100.00 0 MSH2 100.00 0 MSH6 99.92 0 MSMO1 100.00 0 MSX1 99.53 0 MUTYH 100.00 0 MYO5A 99.78 0 NF1 98.85 0 NF2 99.97 0 NFKBIA 99.97 0 NGF 100.00 0 NHP2 100.00 0 NIPAL4 100.00 0 NIPBL 99.62 0 RMRP 100.00 0 NOP10 100.00 0 NOTCH1 98.81 0 NRAS 100.00 0 NSDHL 100.00 0 NTRK1 98.91 0 OCA2 99.73 0 OFD1 97.68 0 ORAI1 93.55 0 OSMR 100.00 0 PADI3 100.00 0 PARN 100.00 0 PAX3 100.00 0 PDGFRB 100.00 0 PEX7 96.12 0 PHYH 99.87 0 PIGL 100.00 0 PIK3CA 100.00 0 PKP1 100.00 0 PLCD1 99.74 0 PLEC 99.33 0 PLOD1 98.77 0 PLOD3 99.97 0 PMS2 98.83 0 PNPLA1 99.66 0 POFUT1 99.99 0 POGLUT1 100.00 0 POLD1 99.84 0 POLH 100.00 0 NT5C3A 100.00 0 PORCN 99.13 0 PPP1CB 100.00 0 PRDM12 83.27 0 PRDM5 100.00 0 PRKAR1A 100.00 0 PRKD1 97.12 0 PSAT1 99.73 0 PSENEN 100.00 0 PTCH1 99.03 0 PTCH2 100.00 0 PTDSS1 100.00 0 PTEN 99.64 0 PTPN11 94.81 0 NECTIN1 99.68 0 NECTIN4 99.41 0 PYCR1 100.00 0 RAB27A 100.00 0 RAD21 100.00 0 RAF1 100.00 0 RASA2 99.74 0 RBPJ 99.69 0 RECQL4 96.90 0 RET 96.88 0 RHBDF2 100.00 0 RIN2 100.00 0 RIPK4 99.98 0 RIT1 100.00 0 RNF113A 100.00 0 RPL21 84.30 0 RRAS 98.63 0 RSPO1 100.00 0 RTEL1 100.00 0 SASH1 99.88 0 SCN11A 99.99 0 SCN9A 99.99 0 SDHB 99.35 0 SDHD 99.95 0 SEC23B 100.00 0 SERPINB7 100.00 0 SERPINB8 100.00 0 SERPING1 97.68 0 SETBP1 100.00 0 SGPL1 100.00 0 SHOC2 100.00 0 HHAT 93.18 0 SKIC2 100.00 0 SLC24A5 100.00 0 SLC27A4 99.97 0 SLC29A3 95.73 0 SLC2A10 97.06 0 SLC39A13 100.00 0 SLC39A4 100.00 0 SLC45A2 100.00 0 SLC6A19 99.99 0 SLURP1 100.00 0 SMAD3 100.00 0 SMARCAD1 99.97 0 SMARCB1 100.00 0 SMC3 100.00 0 SMPD1 100.00 0 SNAI2 100.00 0 SNAP29 100.00 0 SNRPE 99.04 0 SOS1 100.00 0 SOS2 99.97 0 SOX10 97.31 0 SPINK5 100.00 0 SPRED1 100.00 0 SPRY1 100.00 0 SPTLC1 99.44 0 SRD5A3 98.97 0 ST14 99.95 0 STK11 99.81 0 STS 99.94 0 SUFU 100.00 0 SULT2B1 100.00 0 SUMF1 100.00 0 TAT 100.00 0 TCHH 100.00 0 TERT 93.51 0 TFR2 100.00 0 TGFB2 99.97 0 TGFB3 100.00 0 TGFBR1 91.97 0 TGFBR2 100.00 0 TGM1 100.00 0 TGM3 100.00 0 TGM5 100.00 0 TINF2 99.96 0 TMC6 99.87 0 TNXB 100.00 0 TP63 100.00 0 TRPS1 100.00 0 TRPV3 99.99 0 TSC1 100.00 0 TSC2 99.99 0 SKIC3 99.99 0 TUBB 100.00 0 TWIST2 99.15 0 TYR 100.00 0 TYRP1 100.00 0 UBR1 100.00 0 USB1 100.00 0 UVSSA 100.00 0 VPS33B 100.00 0 WDR19 100.00 0 WDR35 100.00 0 WNK1 100.00 0 WNT10A 94.15 0 WRAP53 100.00 0 WRN 100.00 0 XPA 97.89 0 XPC 100.00 0 ZMPSTE24 100.00 0 ZNF469 99.97 0 ZNF750 100.00 0 TERC 100.00 0 t -
Oculocutaneous albinism / Ocular albinism - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AHR 99.79 1 AP3B1 99.89 1 AP3D1 100.00 1 BLOC1S3 100.00 1 BLOC1S5 99.80 1 BLOC1S6 99.98 1 DCT 99.98 1 DTNBP1 99.89 1 EPG5 99.95 1 FRMD7 99.97 1 GPR143 99.60 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 LRMDA 99.87 1 LYST 99.87 1 MC1R 100.00 1 MITF 99.98 1 MLPH 100.00 1 MYO5A 99.94 1 OCA2 99.60 1 PAX6 99.95 1 RAB27A 99.94 1 SLC24A5 99.99 1 SLC38A8 99.99 1 SLC45A2 100.00 1 TYR 100.00 1 TYRP1 99.97 1 -
Primary immune deficiencies - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 100.00 1 ACP5 100.00 1 ACTB 100.00 1 ADA 99.97 1 ADA2 100.00 1 ADAM17 99.94 1 ADAR 99.84 1 AICDA 99.94 1 AIRE 99.95 1 AK2 99.39 1 ALPI 100.00 1 AP1S3 100.00 1 AP3B1 99.89 1 AP3D1 100.00 1 APOL1 99.99 1 ARHGEF1 99.97 1 ARPC1B 99.92 1 ATG16L1 99.95 1 ATG4A 99.86 1 ATM 99.83 1 ATP2A2 99.98 1 ATP6AP1 100.00 1 B2M 100.00 1 BACH2 99.99 1 BCL10 99.74 1 BCL11B 100.00 1 BLK 99.98 1 BLM 99.80 1 BLNK 99.90 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BTK 99.88 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C1R 99.99 1 C1S 99.98 1 C2 99.99 1 C2orf69 99.97 1 C3 100.00 1 C4A 21.28 1 C4BPA 99.95 1 C5 99.92 1 C6 99.97 1 C7 99.94 1 C8A 99.95 1 C8B 99.37 1 C8G 99.99 1 C9 99.89 1 CARD11 99.97 1 CARD14 99.99 1 CARD9 100.00 1 CARMIL2 99.99 1 CASP10 99.85 1 CASP8 99.92 1 CBL 99.95 1 CCBE1 99.52 1 CCDC28B 99.99 1 CD19 99.98 1 CD247 99.79 1 CD27 99.95 1 CD3D 100.00 1 CD3E 100.00 1 CD3G 100.00 1 CD4 100.00 1 CD40 100.00 1 CD40LG 99.88 1 CD46 99.86 1 CD55 74.12 1 CD59 100.00 1 CD70 99.99 1 CD79A 99.97 1 CD79B 99.93 1 CD81 99.97 1 CD8A 99.97 1 CDC42 98.05 1 CDCA7 99.88 1 CEBPE 100.00 1 CFB 99.97 1 CFD 99.99 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CFP 99.96 1 CFTR 99.45 1 CHD7 99.99 1 CIB1 99.92 1 CIITA 99.99 1 CLCN7 99.99 1 CLEC7A 99.98 1 CLPB 99.97 1 COL7A1 99.99 1 COPA 99.61 1 CORO1A 91.71 1 CPT2 99.65 1 CR2 99.97 1 CREBBP 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CSF3R 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 CTPS1 98.63 1 CTSC 99.97 1 CXCR4 99.98 1 CYBA 99.96 1 CYBB 99.87 1 CYBC1 100.00 1 DBR1 99.92 1 DCLRE1B 99.91 1 DCLRE1C 99.79 1 RIGI 99.84 1 DEF6 100.00 1 DGKE 99.10 1 DHFR 98.89 1 DKC1 99.59 1 DNAJC21 99.67 1 DNASE1 100.00 1 DNASE1L3 99.90 1 DNASE2 100.00 1 DNMT3B 99.98 1 DOCK2 100.00 1 DOCK8 99.86 1 DOK3 99.95 1 DTNBP1 99.89 1 EFL1 99.83 1 ELANE 100.00 1 ELF4 99.97 1 EPG5 99.95 1 ERBIN 99.69 1 ERCC6L2 99.94 1 EXTL3 99.99 1 F12 99.99 1 FAAP24 99.95 1 FADD 99.97 1 FAS 99.99 1 FASLG 99.84 1 FAT4 99.98 1 FCGR2B 70.97 1 FCGR3A 99.93 1 FCGR3B 95.51 1 FCHO1 99.99 1 FCN3 99.48 1 FERMT1 99.90 1 FERMT3 99.99 1 FNIP1 99.87 1 FOXN1 99.97 1 FOXP3 99.93 1 FPR1 100.00 1 G6PC3 99.98 1 G6PD 99.97 1 GATA1 99.97 1 GATA2 99.99 1 GFI1 99.88 1 GIMAP5 100.00 1 GINS1 99.99 1 GUCY2C 99.90 1 HAVCR2 99.93 1 HAX1 100.00 1 HELLS 99.78 1 HMOX1 99.95 1 HPS1 100.00 1 HPS4 99.98 1 HPS6 100.00 1 HTRA2 99.99 1 HYOU1 99.97 1 ICOS 99.95 1 ICOSLG 5.95 1 IFIH1 99.84 1 IFNAR1 99.75 1 IFNAR2 89.62 1 IFNG 99.50 1 IFNGR1 99.87 1 IFNGR2 99.95 1 IGHM 100.00 1 IGKC 99.99 1 IGLL1 100.00 1 IKBKB 99.93 1 IKBKG 57.34 1 IKZF1 99.92 1 IL10 100.00 1 IL10RA 99.99 1 IL10RB 99.99 1 IL12B 99.98 1 IL12RB1 94.11 1 IL12RB2 97.66 1 IL15RA 99.96 1 IL17F 99.99 1 IL17RA 100.00 1 IL17RC 100.00 1 IL18 99.85 1 IL18BP 99.99 1 IL1RL1 99.76 1 IL1RN 99.64 1 IL21 99.95 1 IL21R 99.70 1 IL23R 97.64 1 IL2RA 99.99 1 IL2RB 100.00 1 IL2RG 99.86 1 IL36RN 100.00 1 IL6R 92.46 1 IL6ST 99.88 1 IL7R 99.99 1 ILRUN 100.00 1 INO80 99.96 1 IRAK1 99.98 1 IRAK4 98.85 1 IRF2BP2 100.00 1 IRF3 99.96 1 IRF4 99.99 1 IRF7 100.00 1 IRF8 99.99 1 IRF9 100.00 1 ISG15 100.00 1 ITCH 95.57 1 ITGB2 100.00 1 ITK 99.91 1 ITPKB 99.99 1 IVNS1ABP 99.24 1 JAGN1 100.00 1 JAK1 99.32 1 JAK3 99.99 1 KDM6A 99.74 1 KMT2A 99.97 1 KMT2D 99.98 1 KRAS 99.13 1 LACC1 99.99 1 LAMTOR2 99.92 1 LAT 99.85 1 LCK 99.56 1 LCP2 99.58 1 LIG1 99.93 1 LIG4 100.00 1 LIPA 99.96 1 LPIN2 100.00 1 LRBA 99.76 1 LRRC8A 100.00 1 LSM11 100.00 1 LYST 99.87 1 MAGT1 99.54 1 MALT1 99.71 1 MAN2B1 99.99 1 MAP1LC3B2 100.00 1 MAP3K14 99.98 1 MAPK8 99.64 1 MASP1 99.99 1 MASP2 99.95 1 MBL2 99.93 1 MCM10 99.99 1 MCM4 99.96 1 MEFV 100.00 1 MOGS 100.00 1 MPEG1 100.00 1 MPO 99.97 1 MRE11 99.93 1 MRTFA 92.99 1 MS4A1 99.60 1 MSH6 99.97 1 MSN 99.98 1 MTHFD1 100.00 1 MVK 99.97 1 MYD88 99.99 1 MYO5B 100.00 1 MYSM1 94.16 1 NBAS 99.86 1 NBN 99.93 1 NCF1 57.22 1 NCF2 99.85 1 NCF4 100.00 1 NCKAP1L 99.77 1 NCSTN 99.82 1 NFAT5 99.93 1 NFE2L2 99.97 1 NFKB1 99.80 1 NFKB2 99.98 1 NFKBIA 99.99 1 NHEJ1 99.91 1 NHP2 99.96 1 NKX2-5 99.75 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NLRP7 99.99 1 NOD2 99.98 1 NOP10 99.99 1 NOS2 96.11 1 NPC1 99.99 1 NRAS 99.66 1 NSMCE3 100.00 1 OAS1 99.96 1 ORAI1 99.63 1 OSTM1 99.56 1 OTULIN 99.95 1 PARN 99.75 1 PAX1 100.00 1 PCCA 99.90 1 PCCB 99.97 1 PEPD 99.98 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 PLCG2 99.99 1 PLEKHM1 99.77 1 PLG 99.89 1 PMS2 70.47 1 PNP 100.00 1 POLA1 99.57 1 POLD1 99.96 1 POLD2 99.95 1 POLE 99.99 1 POLE2 99.87 1 POLR3A 99.97 1 POLR3C 99.89 1 POLR3F 99.97 1 NT5C3A 99.95 1 PRF1 100.00 1 PRIM1 99.07 1 PRKCD 99.96 1 PRKDC 99.93 1 PSEN1 100.00 1 PSENEN 100.00 1 PSMA3 99.96 1 PSMB10 99.98 1 PSMB4 99.83 1 PSMB8 99.96 1 PSMB9 99.68 1 PSMG2 99.98 1 PSTPIP1 99.91 1 PSTPIP2 99.98 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN2 99.98 1 PTPN6 100.00 1 PTPRC 93.90 1 RAB27A 99.94 1 RAC2 99.99 1 RAG1 100.00 1 RAG2 100.00 1 RANBP2 99.37 1 RASGRP1 100.00 1 RBCK1 100.00 1 RC3H1 99.22 1 RECQL4 100.00 1 REL 96.99 1 RELA 99.99 1 RELB 99.97 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RHOH 99.99 1 RIPK1 99.93 1 RMRP 100.00 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF31 100.00 1 RORC 99.42 1 RPSA 0.00 1 RTEL1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SASH3 99.99 1 SBDS 99.93 1 SDHA 99.98 1 SEC61A1 99.99 1 SEMA3E 99.13 1 SERPING1 100.00 1 SGPL1 99.95 1 SH2D1A 98.98 1 SH3BP2 100.00 1 SH3KBP1 99.95 1 SKIC2 99.98 1 SLC11A1 99.99 1 SLC29A3 99.98 1 SLC35C1 100.00 1 SLC37A4 99.90 1 SLC39A7 100.00 1 SLC46A1 100.00 1 SLC7A7 99.99 1 SLC9A3 100.00 1 SMARCAL1 99.97 1 SMARCD2 99.99 1 SNX10 99.96 1 SOCS1 99.98 1 SOCS4 99.92 1 PMP22 99.99 1 SPI1 99.81 1 SPINK5 99.91 1 SPPL2A 99.88 1 SRP54 99.83 1 SRP72 99.91 1 STAT1 99.83 1 STAT2 99.89 1 STAT3 99.97 1 STAT4 99.77 1 STAT5B 99.50 1 STAT6 99.87 1 STIM1 99.99 1 STING1 99.87 1 STK4 99.91 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 STXBP3 85.74 1 SYK 99.96 1 TAFAZZIN 99.98 1 TAP1 99.97 1 TAP2 99.94 1 TAPBP 99.98 1 TBK1 99.07 1 TBX1 99.95 1 TBX21 99.99 1 TCF3 100.00 1 TCIRG1 99.99 1 TCN2 100.00 1 TERC 98.59 1 TERT 100.00 1 TET2 99.99 1 TFRC 99.87 1 TGFB1 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THBD 100.00 1 TICAM1 99.99 1 TINF2 100.00 1 TIRAP 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TLR7 99.98 1 TMC6 100.00 1 TMC8 99.92 1 TNFAIP3 99.94 1 TNFRSF11A 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFRSF1A 100.00 1 TNFRSF4 100.00 1 TNFRSF9 99.99 1 TNFSF11 99.89 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TOP2B 99.72 1 TPP2 99.89 1 TRAC 100.00 1 TRAF3 99.97 1 TRAF3IP2 100.00 1 TREX1 100.00 1 TRIM22 100.00 1 TRNT1 99.97 1 SKIC3 99.82 1 TTC7A 99.77 1 TYK2 99.99 1 UBA1 99.93 1 UNC119 100.00 1 UNC13D 100.00 1 UNC93B1 99.75 1 UNG 100.00 1 USB1 89.62 1 USP18 93.05 1 VAV1 99.99 1 VPS13B 99.90 1 VPS45 93.94 1 WAS 99.90 1 WDR1 99.99 1 WIPF1 99.87 1 WRAP53 100.00 1 XBP1 99.99 1 XIAP 99.36 1 ZAP70 99.95 1 ZBTB24 99.99 1 ZNF341 100.00 1 ZNFX1 99.99 1 -
Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 100.00 0 NM_001089.2 ACD 100.00 0 NM_001082486.1 CSF2RA 100.00 0 NM_006140.4 CSF2RB 100.00 0 NM_000395.2 DKC1 100.00 0 NM_001363.4 GATA2 100.00 0 NM_032638.4 GBA1 100.00 0 NM_001005741.2 HPS1 100.00 0 NM_000195.3 HPS4 100.00 0 NM_022081.5 NHP2 100.00 0 NM_017838.3 NKX2-1 100.00 0 NM_001079668.2 PARN 100.00 0 NM_002582.3 RTEL1 100.00 0 NM_032957.4 SFTPA1 100.00 0 NM_005411.4 SFTPA2 100.00 0 NM_001098668.2 SFTPC 100.00 0 NM_003018.3 SLC34A2 100.00 0 NM_006424.2 SMPD1 100.00 0 NM_000543.4 TERC 100.00 0 NR_001566.1 TERT 100.00 0 NM_198253.2 TINF2 100.00 0 NM_001099274.1 -
Respiratory Disorders panel (137 genes) - Ugent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 99.96 1 ABCC8 99.98 1 ACVRL1 99.88 1 AP3B1 99.89 1 AQP1 99.99 1 ARHGEF1 99.97 1 ASAH1 99.90 1 ASCL1 99.82 1 ATP13A3 99.84 1 ATP6AP1 100.00 1 BDNF 100.00 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMP10 99.96 1 BMPR1B 99.61 1 BMPR2 99.95 1 CARD11 99.97 1 CAV1 99.97 1 CCDC39 99.74 1 CCDC40 100.00 1 CD19 99.98 1 CD81 99.97 1 CIITA 99.99 1 CLEC1A 99.97 1 CLEC7A 99.98 1 COPA 99.61 1 CR2 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 DKC1 99.59 1 DNAAF1 99.99 1 DNAAF2 99.91 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAH9 99.79 1 DOCK8 99.86 1 DTNBP1 99.89 1 EFEMP2 99.94 1 EIF2AK4 99.97 1 ELMOD2 99.80 1 ELN 99.86 1 ENG 100.00 1 ERBIN 99.69 1 FAM111B 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBLN5 100.00 1 FLNA 99.99 1 FNIP1 99.87 1 FOXF1 99.99 1 FOXP3 99.93 1 GARS1 99.93 1 GATA2 99.99 1 GBA1 96.92 1 GDF2 100.00 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 IKZF1 99.92 1 IL6R 92.46 1 IL6ST 99.88 1 IRF2BP2 100.00 1 ITCH 95.57 1 ITGA3 99.86 1 KCNA5 100.00 1 KCNK3 100.00 1 KDR 99.86 1 LRBA 99.76 1 LTBP4 99.99 1 MARS1 99.97 1 MOGS 100.00 1 MS4A1 99.60 1 MUC5B 99.94 1 NFKB1 99.80 1 NFKB2 99.98 1 NKX2-1 100.00 1 NME8 99.83 1 NOD2 99.98 1 NOTCH3 99.99 1 NSMCE3 100.00 1 OAS1 99.96 1 PARN 99.75 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 POU2AF1 99.43 1 PTEN 99.89 1 RAC2 99.99 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RGPD4 71.96 1 RSPH4A 99.95 1 RSPH9 99.99 1 RTEL1 100.00 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SEC61A1 99.99 1 SERPINA1 100.00 1 SFTPA1 99.99 1 SFTPA2 99.81 1 SFTPB 99.99 1 SFTPC 99.99 1 SFTPD 99.62 1 SH3KBP1 99.95 1 SLC34A2 99.99 1 SLC7A7 99.99 1 SMAD4 99.97 1 SMAD9 99.99 1 SMPD1 100.00 1 SOX17 100.00 1 SPINK5 99.91 1 STAT3 99.97 1 STAT5B 99.50 1 STING1 99.87 1 TBX4 99.96 1 TERC 98.59 1 TERT 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TINF2 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TRNT1 99.97 1 TSC1 99.99 1 TSC2 99.98 1 ZNF341 100.00 1 -
Skin disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AAGAB 100.00 1 ABCA12 99.94 1 ABCB6 99.97 1 ABHD5 99.98 1 ADAM10 99.88 1 ADAR 99.84 1 ADGRE2 98.77 1 ALDH3A2 99.95 1 ALOX12B 100.00 1 ALOXE3 99.98 1 ALX4 100.00 1 ANTXR1 99.83 1 ANTXR2 99.67 1 AP1S1 99.49 1 AP3B1 99.89 1 AP3D1 100.00 1 APCDD1 99.99 1 AQP5 99.88 1 ARHGAP31 100.00 1 ARSL 99.93 1 ATP2A2 99.98 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 AXIN2 100.00 1 BANF1 99.84 1 BCS1L 99.99 1 BLM 99.80 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMS1 85.80 1 BRAF 99.78 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C5 99.92 1 CARD11 99.97 1 CARD14 99.99 1 CASP10 99.85 1 CASP14 99.86 1 CASP8 99.92 1 CAST 99.94 1 CBL 99.95 1 CD151 100.00 1 CDH1 99.98 1 CDH3 99.98 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDSN 99.94 1 CERS3 99.85 1 CHST8 100.00 1 CHUK 99.83 1 CLDN1 99.99 1 CLDN10 99.97 1 COG6 99.86 1 COL17A1 99.98 1 COL18A1 99.99 1 COL7A1 99.99 1 COX7B 99.86 1 CYP11B1 100.00 1 CSTB 99.99 1 CSTA 99.83 1 CTLA4 99.99 1 CTSC 99.97 1 CYLD 99.46 1 CYP11A1 99.99 1 CYP21A2 99.85 1 CYP26C1 99.92 1 CYP4F22 99.97 1 DCAF17 99.84 1 DCLRE1C 99.79 1 DCPS 99.98 1 DDB2 100.00 1 DHCR24 99.93 1 DIP2B 99.65 1 DKC1 99.59 1 DLL4 100.00 1 DOCK6 100.00 1 DOCK8 99.86 1 DPH1 100.00 1 DSC3 99.73 1 DSG1 99.35 1 DSG3 99.97 1 DSG4 99.91 1 DSP 100.00 1 DST 99.52 1 DSTYK 99.83 1 DTNBP1 99.89 1 GLB1 99.92 1 EDA 99.44 1 EDAR 99.89 1 EDARADD 99.98 1 EDN3 100.00 1 EDNRA 99.97 1 EDNRB 99.99 1 ELOVL4 99.91 1 ENPP1 99.88 1 EOGT 99.09 1 EPG5 99.95 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC8 99.79 1 EVC 99.95 1 EVC2 99.97 1 EXPH5 99.81 1 F12 99.99 1 FAM111B 99.98 1 FAS 99.99 1 FASLG 99.84 1 FECH 99.98 1 FERMT1 99.90 1 FGFR1 98.88 1 FGFR3 100.00 1 FOXN1 99.97 1 FZD6 99.95 1 GBA1 96.92 1 GINS1 99.99 1 GJA1 100.00 1 GJB2 100.00 1 GJB3 99.99 1 GJB4 100.00 1 GJB6 100.00 1 GPR143 99.60 1 GREM2 100.00 1 GRHL2 100.00 1 GRIN2B 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 HCCS 99.90 1 HOXC13 99.98 1 HPGD 99.98 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 HR 99.95 1 HRAS 100.00 1 HSPA9 99.96 1 IFT122 99.98 1 IFT43 99.97 1 IKBKG 57.34 1 IL2RA 99.99 1 IL31RA 100.00 1 ITGA3 99.86 1 ITGA6 99.78 1 ITGB4 99.99 1 ITPR2 99.13 1 JUP 99.94 1 KCNH1 99.92 1 KCTD1 99.99 1 KDF1 99.86 1 KDSR 99.99 1 KEAP1 100.00 1 KIT 99.86 1 KITLG 99.46 1 KLHL24 99.90 1 KRAS 99.13 1 KREMEN1 99.88 1 KRT1 99.89 1 KRT10 100.00 1 KRT13 99.98 1 KRT14 99.99 1 KRT16 100.00 1 KRT17 100.00 1 KRT2 99.88 1 KRT3 99.89 1 KRT5 99.98 1 KRT6A 100.00 1 KRT6B 99.95 1 KRT6C 96.59 1 KRT7 99.87 1 KRT74 99.92 1 KRT83 100.00 1 KRT85 99.97 1 KRT9 100.00 1 LAMA4 99.90 1 LAMB3 99.99 1 LAMC2 99.54 1 LBR 99.66 1 LIPH 99.99 1 LIPN 99.94 1 LMNA 99.96 1 LMNB2 99.99 1 LORICRIN 100.00 1 LPAR6 99.99 1 LRMDA 99.87 1 LRP1 99.94 1 LYST 99.87 1 LZTR1 99.46 1 MBTPS2 99.81 1 MC1R 100.00 1 MC2R 100.00 1 MC4R 100.00 1 MCM4 99.96 1 MEN1 99.98 1 MITF 99.98 1 MLPH 100.00 1 MMP1 99.99 1 MPDU1 99.97 1 MPLKIP 99.99 1 MSX1 100.00 1 MYO5A 99.94 1 NECTIN1 99.99 1 NECTIN4 99.97 1 NF1 99.88 1 NFKBIA 99.99 1 NIPAL4 100.00 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NNT 99.87 1 NOP10 99.99 1 NOTCH1 99.98 1 NR5A1 99.92 1 NRAS 99.66 1 NSDHL 99.87 1 OCA2 99.60 1 OSMR 99.95 1 PADI3 99.35 1 PAX3 100.00 1 PAX6 99.95 1 PDGFRB 99.99 1 PEPD 99.98 1 PEX7 99.72 1 PGM3 99.94 1 PHGDH 99.79 1 PHYH 100.00 1 PIEZO1 99.98 1 PIGL 99.98 1 PIGT 99.95 1 PKP1 99.98 1 PLCD1 99.98 1 PLCG2 99.99 1 PLEC 100.00 1 PMVK 99.60 1 PNPLA1 99.98 1 PNPLA2 100.00 1 PNPLA6 99.99 1 POFUT1 100.00 1 POGLUT1 99.99 1 POLA1 99.57 1 POLH 99.85 1 POMC 99.99 1 NT5C3A 99.95 1 PORCN 99.93 1 HCRT 99.85 1 PRKCD 99.96 1 PRKD1 99.96 1 PSAT1 99.98 1 PSENEN 100.00 1 PSMB8 99.96 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTPRF 99.92 1 RAB27A 99.94 1 RAD50 99.75 1 RAF1 99.97 1 RAG1 100.00 1 RAG2 100.00 1 RBM28 99.99 1 RBPJ 99.96 1 RECQL4 100.00 1 RET 99.97 1 RHBDF2 99.95 1 RIN2 99.99 1 RIT1 99.78 1 RMRP 100.00 1 RSPO1 99.99 1 SCN9A 99.83 1 SDR9C7 99.99 1 SERPINB7 99.93 1 SERPINB8 99.98 1 SERPING1 100.00 1 SGPL1 99.95 1 SHOC2 99.96 1 SLC24A5 99.99 1 SLC27A4 100.00 1 SLC29A3 99.98 1 SLC39A4 100.00 1 SLC45A2 100.00 1 SLURP1 100.00 1 SMARCA2 99.95 1 SMARCAD1 99.86 1 SNAI2 100.00 1 SNAP29 99.85 1 SNRPE 99.26 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX18 100.00 1 SPINK5 99.91 1 SPINT1 100.00 1 SPRED1 99.99 1 SRD5A3 99.94 1 ST14 100.00 1 ST3GAL5 99.96 1 STAT3 99.97 1 STIM1 99.99 1 STK11 100.00 1 STS 99.81 1 SULT2B1 99.92 1 SUMF1 99.95 1 TAT 99.99 1 TCHH 99.94 1 TERC 98.59 1 TGM1 99.82 1 TGM3 100.00 1 TGM5 100.00 1 TINF2 100.00 1 TP63 99.97 1 TRPM1 99.96 1 TRPS1 100.00 1 TRPV3 99.90 1 TWIST2 100.00 1 TXNRD2 99.97 1 TYRP1 99.97 1 UBR1 99.93 1 UROD 99.32 1 UROS 100.00 1 USB1 89.62 1 VCX 96.04 1 VCX3A 85.19 1 WDR19 99.80 1 WDR35 99.92 1 WNT10A 100.00 1 XPA 99.68 1 XPC 99.98 1 ZMPSTE24 98.70 1 -
Trombosis - Hemostasis (107 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95% ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95% ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95% ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95% ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95% ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95% ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95% COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95% COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95% COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95% COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95% CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% ENG 95.00 0 NM_000118.3/ interpretable range CS1>95% ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95% F10 95.00 0 NM_000504.3/ interpretable range CS1>95% F11 95.00 0 NM_000128.3/ interpretable range CS1>95% F12 95.00 0 NM_000505.3/ interpretable range CS1>95% F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95% F13B 95.00 0 NM_001994.2/ interpretable range CS1>95% F2 95.00 0 NM_000506.3/ interpretable range CS1>95% F5 95.00 0 NM_000130.4/ interpretable range CS1>95% F7 95.00 0 NM_000131.4/ interpretable range CS1>95% F8 95.00 0 NM_000132.3/ interpretable range CS1>95% F9 95.00 0 NM_000133.3/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FGA 95.00 0 NM_021871.2/ interpretable range CS1>95% FGB 95.00 0 NM_005141.4/ interpretable range CS1>95% FGG 95.00 0 NM_000509.4/ interpretable range CS1>95% FLII 95.00 0 NM_002017.4/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95% FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95% GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95% GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95% GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95% GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95% GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95% GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95% GP9 95.00 0 NM_000174.4/ interpretable range CS1>95% HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95% HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95% HRG 95.00 0 NM_000412.3/ interpretable range CS1>95% IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95% ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95% ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95% LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95% MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95% MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95% MPL 95.00 0 NM_005373.2/ interpretable range CS1>95% MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95% NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95% NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95% P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95% PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95% PLG 95.00 0 NM_000301.3/ interpretable range CS1>95% PROC 95.00 0 NM_000312.3/ interpretable range CS1>95% PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95% PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95% RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95% RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95% RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95% SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95% SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95% SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95% SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95% SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95% SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95% SRC 95.00 0 NM_005417.4/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95% TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95% TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% THPO 95.00 0 NM_000460.3/ interpretable range CS1>95% TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95% TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95% VWF 95.00 0 NM_000552.3/ interpretable range CS1>95% WAS 95.00 0 NM_000377.2/ interpretable range CS1>95% RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95% -
chILD (34 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95% AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95% BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95% BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95% COPA 95.00 0 NM_004371.4/ interpretable range CS1>95% CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95% FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95% FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95% GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95% HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95% HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95% HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95% HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95% MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95% NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95% SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95% SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95% SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95% SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95% STING1 95.00 0 NM_198282.4/ interpretable range CS1>95% TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95% TERC 95.00 0 NR_001566.1/ interpretable range CS1>95% TERT 95.00 0 NM_198253.3/ interpretable range CS1>95% HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95% MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95% PARN 95.00 0 NM_002582.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95% SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95% SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95% RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%