- Panels
- Additional findings_Paediatric
- SLC6A19
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
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Additional findings_Paediatric
Gene: SLC6A19 Green List (high evidence)
SLC6A19 (solute carrier family 6 member 19)
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 9 panels
1 review
Lilian Downie (Victorian Clinical Genetics Services)
Green List (high evidence)
Rated 'C' by babyseq due to low penetrance. Inborn error of amino acid transport. Causes pellagra (rash), cerebellar ataxia, psychosis that is episodic. Treatable, onset can be in childhood.Created: 24 Sep 2020, 12:37 a.m. | Last Modified: 24 Sep 2020, 12:37 a.m.
Panel Version: 0.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hartnup disorder MIM # 234500
Created: 24 Sep 2020, 12:37 a.m.
Last Modified: 24 Sep 2020, 12:37 a.m.
Panel version: 0.20
Last Modified: 24 Sep 2020, 12:37 a.m.
Panel version: 0.20
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BabySeq Category C gene
- Phenotypes
-
- Hartnup disorder, MIM # 234500
- OMIM
- 608893
- Clinvar variants
- Variants in SLC6A19
- Penetrance
- None
- Panels with this gene
History Filter Activity
24 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a19 has been classified as Green List (High Evidence).
24 Sep 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC6A19 were changed from Hartnup disorder to Hartnup disorder, MIM # 234500
24 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a19 has been classified as Green List (High Evidence).
27 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC6A19 was added gene: SLC6A19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC6A19 were set to Hartnup disorder