- Panels
- Molecular autopsy
- HSD17B10
Genes in panel
- AARS2 0
- AASS 0
- ABAT 0
- ABCA1 0
- ABCB11 0
- ABCB4 0
- ABCB7 0
- ABCC9 2
- ABCD1 0
- ABCD4 0
- ABHD5 0
- ACAD8 0
- ACAD9 0
- ACADM 0
- ACADS 0
- ACADSB 0
- ACADVL 0
- ACAT1 0
- ACO2 0
- ACOX1 0
- ACSF3 0
- ACTC1 2
- ACTN2 2
- ADAR 0
- AFG3L2 0
- AGA 0
- AGK 0
- AGL 0
- AGPS 0
- AGXT 0
- AIFM1 0
- AKR1D1 0
- ALAD 0
- ALDH18A1 0
- ALDH4A1 0
- ALDH5A1 0
- ALDH6A1 0
- ALDH7A1 0
- ALDOA 0
- ALDOB 0
- ALG1 0
- ALG11 0
- ALG12 0
- ALG3 0
- ALG6 0
- ALG8 0
- ALG9 0
- AMACR 0
- AMN 0
- AMT 0
- ANK2 2
- ANO10 0
- APOA1 0
- APOA5 0
- APOC2 0
- APOE 0
- APOPT1 1
- APRT 0
- APTX 0
- ARG1 0
- ARSA 0
- ARSB 0
- ARSE 1
- ASL 0
- ASPA 0
- ASS1 0
- ATAD3A 0
- ATIC 0
- ATP13A2 0
- ATP6AP1 0
- ATP6V0A2 0
- ATP7A 0
- ATP7B 0
- ATP8B1 0
- ATPAF2 0
- AUH 0
- B3GALNT2 0
- B3GALT6 0
- B3GAT3 0
- B3GLCT 0
- B4GALT1 0
- B4GALT7 0
- B4GAT1 0
- BAAT 0
- BAG3 1
- BCKDHA 0
- BCKDHB 0
- BCKDK 0
- BCS1L 0
- BOLA3 0
- BRAF 1
- BTD 0
- C12orf65 1
- C19orf12 0
- C1QBP 0
- CA5A 0
- CACNA1C 2
- CACNB2 2
- CALM1 2
- CALM2 0
- CASQ2 2
- CAT 0
- CBL 1
- CBS 0
- CCDC115 1
- CHCHD10 0
- CHKB 0
- CHST14 0
- CHST3 0
- CHST6 0
- CHSY1 0
- CLN3 0
- CLN5 0
- CLN6 0
- CLN8 0
- CLPB 0
- CLPP 0
- CNNM2 0
- COG1 0
- COG4 0
- COG5 0
- COG6 0
- COG7 0
- COG8 0
- COL12A1 0
- COL6A1 0
- COL6A2 0
- COL6A3 0
- COQ2 0
- COQ4 0
- COQ6 0
- COQ8A 0
- COQ8B 0
- COQ9 0
- COX10 0
- COX14 0
- COX15 1
- COX20 0
- COX6A1 0
- COX6B1 0
- COX7B 0
- CP 0
- CPOX 0
- CPS1 0
- CPT1A 0
- CPT2 0
- CSRP3 2
- CTH 0
- CTNS 0
- CTSA 0
- CTSD 0
- CTSK 0
- CUBN 0
- CYC1 0
- CYP27A1 0
- D2HGDH 0
- DAG1 0
- DARS 1
- DARS2 0
- DBH 0
- DBT 0
- DDC 0
- DES 2
- DGUOK 0
- DHFR 0
- DHTKD1 0
- DLAT 0
- DLD 0
- DMD 1
- DNA2 0
- DNAJC12 0
- DNAJC19 1
- DNAJC5 0
- DNM1L 0
- DOLK 1
- DPAGT1 0
- DPM1 0
- DPM2 0
- DPYD 0
- DPYS 0
- DSC2 2
- DSG2 2
- DSP 2
- DYM 0
- EARS2 0
- EBP 0
- ECHS1 0
- ELAC2 0
- ENO3 0
- EPG5 0
- EPM2A 0
- ETFA 0
- ETFB 0
- ETFDH 0
- ETHE1 0
- EXT1 0
- EXT2 0
- EYA4 2
- FA2H 0
- FAH 0
- FAR1 0
- FARS2 0
- FASTKD2 0
- FBP1 0
- FBXL4 0
- FDXR 0
- FH 0
- FHL1 2
- FKRP 1
- FKTN 1
- FLAD1 0
- FMO3 0
- FOLR1 0
- FOXRED1 0
- FUCA1 0
- FUT8 0
- G6PC 1
- G6PC3 0
- GAA 1
- GABRG2 0
- GALC 0
- GALE 0
- GALK1 0
- GALNS 0
- GALNT3 0
- GALT 0
- GARS 1
- GATM 0
- GBA 0
- GBE1 0
- GCDH 0
- GCH1 0
- GCLC 0
- GDAP1 0
- GFER 0
- GFM1 0
- GFPT1 0
- GIF 1
- GLA 2
- GLB1 0
- GLDC 0
- GLRA1 0
- GLRX5 0
- GLUD1 0
- GLYCTK 0
- GM2A 0
- GMPPB 0
- GNE 0
- GNPAT 0
- GNPTAB 0
- GNPTG 0
- GNS 0
- GPD1 0
- GPD1L 2
- GPHN 0
- GRHPR 0
- GSS 0
- GTPBP3 0
- GUSB 0
- GYG1 0
- GYS1 0
- GYS2 0
- HAAO 0
- HADHA 1
- HADHB 0
- HAMP 0
- HCCS 0
- HCFC1 0
- HCN4 2
- HEXA 0
- HEXB 0
- HFE 1
- HFE2 1
- HGD 0
- HGSNAT 0
- HIBCH 0
- HLCS 0
- HMBS 0
- HMGCL 0
- HMGCS2 0
- HOGA1 0
- HPRT1 0
- HRAS 1
- HSD17B4 0
- HSD3B7 0
- HSPD1 0
- HTRA2 0
- HYAL1 0
- IARS2 0
- IBA57 0
- IDH2 0
- IDS 0
- IDUA 0
- IER3IP1 0
- INPP5K 0
- ISPD 1
- ITGA7 0
- ITPA 0
- IVD 0
- JUP 2
- KARS 2
- KCNE1 2
- KCNE2 2
- KCNE3 2
- KCNH2 2
- KCNJ2 2
- KCNJ5 2
- KCNQ1 2
- KRAS 1
- KYNU 0
- L2HGDH 0
- LAMA2 1
- LAMP2 2
- LARGE1 0
- LARS2 0
- LCAT 0
- LCT 0
- LDB3 1
- LDHA 0
- LIAS 0
- LIPA 0
- LIPT1 0
- LMBRD1 0
- LMNA 2
- LONP1 0
- LPIN1 0
- LPL 0
- LRPPRC 0
- LZTR1 0
- MAN1B1 0
- MAN2B1 0
- MAP2K1 1
- MAP2K2 1
- MARS2 0
- MAT1A 0
- MCCC1 0
- MCCC2 0
- MCEE 0
- MCOLN1 0
- MDH2 0
- MFF 0
- MFN2 0
- MFSD8 0
- MGAT2 0
- MGME1 0
- MICU1 0
- MLYCD 0
- MMAA 0
- MMAB 0
- MMACHC 0
- MMADHC 0
- MOGS 0
- MPDU1 0
- MPI 0
- MPV17 0
- MRPL44 1
- MRPS22 0
- MRPS34 0
- MSMO1 0
- MT-ATP6 0
- MT-ATP8 0
- MT-CO1 0
- MT-CO2 0
- MT-CO3 0
- MT-CYB 0
- MTHFR 0
- MT-ND1 0
- MT-ND2 0
- MT-ND3 0
- MT-ND4 0
- MT-ND4L 0
- MT-ND5 0
- MT-ND6 0
- MTO1 0
- MTR 0
- MT-RNR1 0
- MTRR 0
- MT-TA 0
- MT-TC 0
- MT-TD 0
- MT-TE 0
- MT-TF 0
- MT-TG 0
- MT-TH 0
- MT-TI 0
- MT-TK 0
- MT-TL1 0
- MT-TL2 0
- MT-TM 0
- MT-TN 0
- MTTP 0
- MT-TP 0
- MT-TQ 0
- MT-TR 0
- MT-TS1 0
- MT-TS2 0
- MT-TV 0
- MT-TW 0
- MT-TY 0
- MUT 1
- MYBPC3 2
- MYH6 2
- MYH7 2
- MYL2 2
- MYL3 2
- MYMK 0
- NAGA 0
- NAGLU 0
- NAGS 0
- NARS2 0
- NDUFA1 1
- NDUFA10 0
- NDUFA11 0
- NDUFA2 0
- NDUFAF1 0
- NDUFAF2 0
- NDUFAF3 0
- NDUFAF4 0
- NDUFAF5 0
- NDUFAF6 0
- NDUFB11 0
- NDUFB3 0
- NDUFS1 0
- NDUFS2 0
- NDUFS3 0
- NDUFS4 0
- NDUFS6 0
- NDUFS7 0
- NDUFS8 0
- NDUFV1 0
- NDUFV2 0
- NEU1 0
- NEXN 2
- NF1 0
- NFU1 0
- NGLY1 0
- NHLRC1 0
- NPC1 0
- NPC2 0
- NRAS 1
- NSDHL 0
- NT5C3A 0
- NUBPL 0
- OAT 0
- OPA1 0
- OPA3 0
- OTC 0
- OXCT1 0
- PAH 0
- PC 0
- PCBD1 0
- PCCA 0
- PCCB 0
- PDHA1 0
- PDHB 0
- PDHX 0
- PDP1 0
- PDSS1 0
- PDSS2 0
- PET100 0
- PEX1 0
- PEX10 0
- PEX11B 0
- PEX12 0
- PEX13 0
- PEX14 0
- PEX16 0
- PEX19 0
- PEX2 0
- PEX26 0
- PEX3 0
- PEX5 0
- PEX6 0
- PEX7 0
- PFKM 0
- PGAP2 0
- PGAP3 0
- PGK1 0
- PGM1 0
- PGM3 0
- PHKA1 0
- PHKA2 0
- PHKB 0
- PHKG2 0
- PHOX2B 0
- PHYH 0
- PIGA 0
- PIGL 0
- PIGN 0
- PIGO 0
- PIGT 0
- PIGV 0
- PKP2 2
- PLA2G6 0
- PLN 2
- PMM2 0
- PMPCA 0
- PNPO 0
- PNPT1 0
- POLG 0
- POLG2 1
- POMGNT1 0
- POMGNT2 0
- POMK 0
- POMT1 0
- POMT2 0
- PPA2 1
- PPOX 0
- PPP1CB 0
- PPP1R13L 0
- PPT1 0
- PRKAG2 2
- PRODH 0
- PSAP 0
- PTPN11 1
- PUS1 0
- PYCR1 0
- PYGL 0
- PYGM 0
- QDPR 0
- RAB3GAP2 0
- RAF1 1
- RARS2 0
- RBCK1 0
- RBM20 2
- RFT1 0
- RIT1 0
- RMND1 0
- RNASEH1 0
- ROBO3 0
- RPIA 0
- RPL10 0
- RRM2B 0
- RYR1 0
- RYR2 2
- SACS 0
- SAMHD1 0
- SAR1B 0
- SARS2 0
- SCN10A 1
- SCN1B 2
- SCN3B 2
- SCN5A 2
- SCO1 0
- SCO2 0
- SCP2 0
- SDHA 1
- SDHAF1 0
- SDHB 0
- SDHD 0
- SEC23B 0
- SELENON 0
- SERAC1 0
- SGCD 2
- SGSH 0
- SHOC2 1
- SI 0
- SLC16A1 0
- SLC17A5 0
- SLC19A2 0
- SLC19A3 0
- SLC22A5 1
- SLC25A1 0
- SLC25A13 0
- SLC25A15 0
- SLC25A19 0
- SLC25A20 0
- SLC25A22 0
- SLC25A26 0
- SLC25A3 0
- SLC25A38 0
- SLC25A4 3
- SLC25A46 0
- SLC2A2 0
- SLC30A10 0
- SLC35A1 1
- SLC35C1 0
- SLC35D1 0
- SLC37A4 0
- SLC39A14 0
- SLC39A4 0
- SLC39A8 0
- SLC40A1 0
- SLC46A1 0
- SLC4A3 0
- SLC52A2 0
- SLC52A3 0
- SLC5A1 0
- SLC6A19 1
- SLC7A7 0
- SMPD1 0
- SNTA1 3
- SOS1 1
- SOS2 0
- SPG7 0
- SPRED1 0
- SRD5A3 0
- SSR4 0
- ST3GAL5 0
- SUCLA2 0
- SUCLG1 0
- SUMF1 0
- SUOX 0
- SURF1 0
- SYNE1 0
- TACO1 0
- TALDO1 0
- TANGO2 0
- TAZ 1
- TCAP 3
- TFR2 0
- TIMM8A 0
- TK2 0
- TMEM165 0
- TMEM43 2
- TMEM5 1
- TMEM70 0
- TNNC1 2
- TNNI3 2
- TNNI3K 1
- TNNT2 2
- TPK1 0
- TPM1 2
- TPP1 0
- TRDN 2
- TRIM37 0
- TRMU 0
- TRNT1 0
- TRPM4 2
- TRPM6 0
- TSFM 0
- TTC19 0
- TTN 2
- TUSC3 0
- TWNK 0
- TYMP 0
- UGT1A1 0
- UMPS 0
- UROD 0
- UROS 0
- VARS2 0
- VCL 2
- WDR45 0
- XDH 0
- XYLT1 0
- XYLT2 0
- YARS2 0
- ABCG5 0
- ABCG8 0
- ABHD12 0
- ACTA1 1
- ACY1 0
- ADA 0
- ADSL 0
- ALAS2 0
- ALDH3A2 0
- ALG13 0
- ALPL 0
- ANKRD1 1
- APOB 0
- ASAH1 0
- CACNA2D1 2
- CISD2 0
- CLDN16 0
- CLDN19 0
- COA3 0
- COA6 0
- COL4A1 0
- CRYAB 1
- CSTB 0
- CTSC 0
- CYCS 0
- CYP7B1 0
- DCC 0
- DCXR 0
- DHCR24 0
- DHCR7 0
- DHDDS 0
- DHODH 0
- DPM3 0
- DYSF 0
- FECH 0
- FGFR2 0
- FLNC 1
- FTCD 0
- FXN 1
- GAMT 0
- GATAD1 1
- GK 0
- GLUL 0
- GNMT 0
- HADH 0
- HPD 0
- HPS1 0
- HSD17B10 0
- ISCU 0
- JPH2 1
- KCNJ8 1
- LBR 0
- LDLR 0
- LDLRAP1 0
- LIPC 0
- MAGT1 0
- MANBA 0
- MAOA 0
- MOCS1 0
- MOCS2 0
- MRPL3 0
- MTFMT 0
- MTPAP 0
- MT-RNR2 0
- MT-TT 0
- MVK 0
- MYLK2 2
- MYPN 1
- NDUFA4 0
- NDUFB9 0
- OCRL 0
- OPLAH 0
- PANK2 0
- PARS2 1
- PCK1 0
- PCSK9 0
- PDPR 0
- PEPD 0
- PGAM2 0
- PHGDH 0
- PIGM 0
- PINK1 0
- PNP 0
- POR 0
- PRPS1 0
- PSAT1 0
- PSEN1 0
- PSEN2 0
- PSPH 0
- PTS 0
- QARS 1
- RANBP2 1
- RBP4 0
- RNASEH2A 0
- RNASEH2B 0
- RNASEH2C 0
- RNASET2 0
- SC5D 0
- SDHAF2 0
- SDHC 0
- SETX 0
- SKIV2L 0
- SLC12A3 0
- SLC18A2 0
- SLC25A12 0
- SLC2A1 0
- SLC35A2 0
- SLC3A1 0
- SLC6A3 0
- SLC6A8 0
- SLC7A9 0
- SPR 0
- SPTLC1 0
- SPTLC2 0
- ST3GAL3 0
- STS 0
- STT3A 0
- TARS2 0
- TAT 0
- TCN2 0
- TH 0
- TIMM50 0
- TMEM126B 0
- TREX1 0
- TTC37 0
- TTPA 0
- TTR 2
- TUFM 0
- UMOD 0
- UQCRB 0
- UQCRQ 1
- UROC1 0
- VIPAS39 0
- VKORC1 0
- VPS33B 0
- WFS1 0
- XPNPEP3 0
- A2ML1 0
- ABCG2 0
- AHCY 0
- AKAP9 2
- ALDH1B1 0
- ALG10 1
- ALG10B 1
- ALG14 0
- ALG2 0
- ALMS1 1
- AMPD1 0
- ANO5 0
- AOX1 0
- ARSG 0
- ASCL1 0
- ATAD3B 0
- ATP5A1 1
- ATP5B 1
- ATP5C1 1
- ATP5E 1
- ATP5G1 1
- ATP5G2 1
- ATP5G3 1
- ATP5I 1
- ATP5J 1
- ATP5O 1
- ATXN7 0
- BCAT1 0
- BCAT2 0
- BDNF 0
- BOLA1 0
- BOLA2 0
- C1GALT1C1 0
- CAD 0
- CALM3 0
- CALR3 1
- CARS2 0
- CAV3 1
- CAVIN4 0
- CD320 0
- CEP89 0
- CETP 0
- CLPS 0
- CNDP1 0
- COA1 0
- COA5 0
- COG2 0
- COL4A2 0
- COQ7 0
- COX4I1 0
- COX4I2 0
- COX5A 0
- COX5B 0
- COX6C 0
- COX7A1 0
- COX7A2 0
- COX7B2 0
- COX7C 0
- COX8A 0
- CTF1 0
- CTNNA3 0
- CYP7A1 0
- DDOST 0
- DHFR2 0
- DLG1 0
- DLST 0
- DMGDH 0
- DMPK 0
- DNM2 0
- DPEP1 0
- DPP6 0
- DTD1 0
- DTNA 1
- DUX4 0
- ECSIT 0
- EDN3 0
- EGF 0
- EMD 1
- ERCC6L2 0
- FBP2 0
- FDX2 0
- FHL2 0
- FOLR2 0
- FOLR3 0
- FXYD2 0
- GALNT12 0
- GATB 0
- GATC 0
- GCSH 0
- GDNF 0
- GFM2 0
- GGT1 0
- GJA5 1
- GLS 0
- GORAB 0
- HAL 0
- HARS2 0
- HSPA9 0
- HYKK 0
- IDH3B 0
- ILK 1
- ISCA2 0
- KCNA5 1
- KCND2 0
- KCND3 1
- KCNE5 0
- KHK 0
- KLF10 1
- LACTB 0
- LAMA4 1
- LARS 1
- LETM1 0
- LFNG 0
- LIPI 0
- LIPT2 0
- LRP5 0
- LYRM4 0
- LYRM7 0
- MECR 0
- MIB1 1
- MPC1 0
- MPO 0
- MRPL12 0
- MRPL40 0
- MRPS16 0
- MRPS2 0
- MRPS23 0
- MRPS7 0
- MTHFD1 0
- MYO6 0
- MYOM1 0
- MYOZ2 1
- NADK2 0
- NAT8L 0
- NAXE 0
- NDUFA12 0
- NDUFA13 0
- NDUFA3 0
- NDUFA5 0
- NDUFA6 0
- NDUFA7 0
- NDUFA8 0
- NDUFA9 0
- NDUFAB1 0
- NDUFB1 0
- NDUFB10 0
- NDUFB2 0
- NDUFB4 0
- NDUFB5 0
- NDUFB6 0
- NDUFB7 0
- NDUFB8 0
- NDUFC1 0
- NDUFC2 0
- NDUFS5 0
- NDUFV3 0
- NEBL 0
- NFS1 0
- NKX2-5 1
- NNT 0
- NOS1AP 0
- NPPA 1
- NT5C 0
- NUP62 0
- NUS1 0
- OGDH 0
- OXA1L 0
- PABPN1 0
- PDK1 0
- PDK2 0
- PDK3 0
- PDK4 0
- PDLIM3 1
- PDP2 0
- PDXK 0
- PEX11A 0
- PHKG1 0
- PHYKPL 0
- PIGW 0
- PITRM1 1
- PLEC 0
- PNLIP 0
- PNPLA4 0
- PNPLA8 0
- POP1 0
- PPM1B 0
- PPM1K 0
- PRDM16 1
- PREPL 0
- PTCD1 0
- PTPRZ1 0
- QRSL1 0
- RANGRF 1
- RASA2 0
- RET 0
- RTN4IP1 0
- SARDH 0
- SCARB1 0
- SCN2B 0
- SCN4B 2
- SFXN4 0
- SGCB 1
- SGCG 1
- SHPK 0
- SLC22A4 0
- SLC25A2 0
- SLC25A40 0
- SLC25A42 0
- SLC27A5 0
- SLC35A3 0
- SLC36A2 0
- SLC52A1 0
- SLC6A20 1
- SLC6A4 0
- SLCO1B1 0
- SLCO1B3 0
- SLMAP 0
- SMCHD1 0
- SRRT 0
- STAT2 0
- STT3B 0
- SUCLG2 0
- SUGCT 0
- SYNE2 0
- TBX20 1
- TCN1 0
- TDO2 0
- TGFB3 1
- TIMM44 0
- TM6SF2 0
- TMEM126A 0
- TMEM199 1
- TMPO 2
- TPMT 0
- TRAP1 0
- TRAPPC11 0
- TREH 0
- TRIM63 0
- TRIT1 0
- TRMT10C 0
- TRMT5 0
- TSPYL1 0
- TXN2 0
- TXNRD2 1
- UPB1 0
- UQCC2 0
- UQCC3 0
- UQCRC1 0
- UQCRC2 0
- UQCRFS1 0
- UQCRH 0
- USF1 0
- VPS13C 0
- WARS2 0
- XK 0
This Panel is marked as Internal
Molecular autopsy
Gene: HSD17B10 Amber List (moderate evidence)
HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10)
EnsemblGeneIds (GRCh38): ENSG00000072506
EnsemblGeneIds (GRCh37): ENSG00000072506
OMIM: 300256, Gene2Phenotype
HSD17B10 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000072506
EnsemblGeneIds (GRCh37): ENSG00000072506
OMIM: 300256, Gene2Phenotype
HSD17B10 is in 10 panels
0 reviews
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Intellectual disability
- 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias)
- Intellectual_disability
- OMIM
- 300256
- Clinvar variants
- Variants in HSD17B10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
20 Dec 2018, Gel status: 2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability for gene: HSD17B10
20 Dec 2018, Gel status: 2
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update
Ellen McDonagh (Genomics England Curator)Source Expert Review Amber was added to HSD17B10. Mode of inheritance for gene HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability for gene: HSD17B10 Publications for gene HSD17B10 were changed from to 27604308 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: HSD17B10 was added gene: HSD17B10 was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: HSD17B10 was set to Unknown