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Metabolsk - UNO
Sist oppdatert: 25.09.2024
Mer informasjon
Utgiver: Oslo universitetssykehus
Versjon: 0.6
Tidligere versjoner
Kopier lenke til dette emnet
Kopiert
Foreslå endringer/gi kommentarer
Panelbeskrivelse
Vi tilbyr en rekke mer målrettede genpaneler for undergrupper av metabolske sykdommer, se disse først.
Ved uspesifikke, komplekse fenotyper og mistanke om tilgrunnliggende metabolsk sykdom bør analyse av genpanel for metabolske sykdommer utføres som trioanalyse, se «NGS-Metabolsk-TRIO». «NGS-Metabolsk-UNO» kan rekvireres som ledd i utredning av medfødt metabolsk sykdom, hvor begge biologiske foreldre ikke er tilgjengelige for prøvetaking, og hvor mer målrettet panel ikke er egnet.
De fleste medfødte metabolske sykdommer er autosomalt recessive, men enhver arvegang, også mitokondriell (omfattes ikke av analysen), er mulig. Medfødt metabolsk sykdom kan debutere i alle aldre og gi svært ulike symptombilder. Symptomer, familiehistorie og funn (avvik ved biokjemisk screening for medfødt metabolsk sykdom) vil kunne indikere aktuelle sykdomsgrupper som bør prioriteres ved tolkning av genvarianter.
Ved moderat til alvorlig psykisk utviklingshemming og/eller multiple misdannelser bør genpanel for utviklingsavvik (NGS-Utviklingsavvik-TRIO) vurderes fremfor genpanel for metabolsk sykdom.
For informasjon om hvilke gener som inngår i tidligere, utgåtte versjoner av panelet, vises det til genliste på Genetikkportalen (www.genetikkportalen.no).
Genliste
Metabolske sykdommer versjon 03
| A4GALT |
| ABAT |
| ABCA1 |
| ABCB11 |
| ABCB4 |
| ABCB6 |
| ABCB7 |
| ABCC2 |
| ABCC6 |
| ABCC8 |
| ABCD1 |
| ABCD3 |
| ABCD4 |
| ABCG5 |
| ABCG8 |
| ABHD12 |
| ABHD5 |
| ACACA |
| ACACB |
| ACAD8 |
| ACAD9 |
| ACADL |
| ACADM |
| ACADS |
| ACADSB |
| ACADVL |
| ACAT1 |
| ACAT2 |
| ACBD5 |
| ACER3 |
| ACMSD |
| ACO2 |
| ACOX1 |
| ACOX2 |
| ACSF3 |
| ACSL4 |
| ACY1 |
| ADA |
| ADAR |
| ADK |
| ADSL |
| AFG3L2 |
| AGA |
| AGK |
| AGL |
| AGPAT2 |
| AGPS |
| AGXT |
| AGXT2 |
| AHCY |
| AICDA |
| AIFM1 |
| AK1 |
| AK2 |
| AK7 |
| AKR1D1 |
| AKT2 |
| ALAD |
| ALAS2 |
| ALDH18A1 |
| ALDH1A3 |
| ALDH3A2 |
| ALDH4A1 |
| ALDH5A1 |
| ALDH6A1 |
| ALDH7A1 |
| ALDOA |
| ALDOB |
| ALG1 |
| ALG11 |
| ALG12 |
| ALG13 |
| ALG14 |
| ALG2 |
| ALG3 |
| ALG6 |
| ALG8 |
| ALG9 |
| ALPI |
| ALPL |
| AMACR |
| AMN |
| AMPD1 |
| AMPD2 |
| AMPD3 |
| AMT |
| ANGPTL3 |
| ANO10 |
| ANTXR2 |
| AP1S1 |
| AP5Z1 |
| APOA1 |
| APOA5 |
| APOB |
| APOC2 |
| APOC3 |
| APOE |
| APPL1 |
| APRT |
| APTX |
| AQP7 |
| AR |
| ARG1 |
| ARSA |
| ARSB |
| ASAH1 |
| ASL |
| ASNS |
| ASPA |
| ASS1 |
| ATAD1 |
| ATAD3A |
| ATG5 |
| ATIC |
| ATP13A2 |
| ATP5F1A |
| ATP5F1D |
| ATP5F1E |
| ATP5MK |
| ATP6AP1 |
| ATP6AP2 |
| ATP6V0A2 |
| ATP6V1A |
| ATP6V1E1 |
| ATP7A |
| ATP7B |
| ATP8A2 |
| ATP8B1 |
| ATPAF2 |
| AUH |
| B3GALNT2 |
| B3GALT6 |
| B3GAT3 |
| B3GLCT |
| B4GALNT1 |
| B4GALT1 |
| B4GALT7 |
| B4GAT1 |
| BAG3 |
| BBOX1 |
| BCAT2 |
| BCKDHA |
| BCKDHB |
| BCKDK |
| BCO1 |
| BCS1L |
| BLK |
| BLVRA |
| BOLA3 |
| BPNT2 |
| BTD |
| BAAT |
| C19orf12 |
| C1GALT1C1 |
| C1QBP |
| CA5A |
| CACNA1A |
| CAD |
| CANT1 |
| CARS2 |
| CAT |
| CBLIF |
| CBS |
| CCDC115 |
| CCDC88C |
| CD320 |
| CEP89 |
| CERS1 |
| CERS2 |
| CERS3 |
| CERT1 |
| CETP |
| CHCHD10 |
| CHKB |
| CHST11 |
| CHST14 |
| CHST3 |
| CHST6 |
| CHSY1 |
| CISD2 |
| CLDN10 |
| CLDN16 |
| CLDN19 |
| CLN3 |
| CLN5 |
| CLN6 |
| CLN8 |
| CLPB |
| CLPP |
| CLPX |
| CMPK2 |
| CNKSR2 |
| CNNM2 |
| COA3 |
| COA5 |
| COA6 |
| COA7 |
| COA8 |
| COASY |
| COG1 |
| COG2 |
| COG4 |
| COG5 |
| COG6 |
| COG7 |
| COG8 |
| COQ2 |
| COQ4 |
| COQ5 |
| COQ6 |
| COQ7 |
| COQ8A |
| COQ8B |
| COQ9 |
| COX10 |
| COX14 |
| COX15 |
| COX20 |
| COX4I2 |
| COX6A1 |
| COX6B1 |
| COX7B |
| COX8A |
| CP |
| CPOX |
| CPS1 |
| CPT1A |
| CPT1C |
| CPT2 |
| CRAT |
| CRPPA |
| CSGALNACT1 |
| CTH |
| CTNS |
| CTSA |
| CTSC |
| CTSD |
| CTSF |
| CTSK |
| CUBN |
| CWF19L1 |
| CYB5A |
| CYB5R3 |
| CYC1 |
| CYCS |
| CYP11A1 |
| CYP11B1 |
| CYP11B2 |
| CYP17A1 |
| CYP19A1 |
| CYP21A2 |
| CYP24A1 |
| CYP26B1 |
| CYP27A1 |
| CYP27B1 |
| CYP2R1 |
| CYP2U1 |
| CYP4F22 |
| CYP7A1 |
| CYP7B1 |
| D2HGDH |
| DARS1 |
| DARS2 |
| DBH |
| DBT |
| DCAF17 |
| DCXR |
| DDC |
| DDHD1 |
| DDHD2 |
| DDOST |
| DES |
| DGAT1 |
| DGKE |
| DGUOK |
| DHCR24 |
| DHCR7 |
| DHDDS |
| DHFR |
| DHODH |
| DHTKD1 |
| DIAPH1 |
| DLAT |
| DLD |
| DMGDH |
| DNA2 |
| DNAJC12 |
| DNAJC19 |
| DNAJC3 |
| DNAJC5 |
| DNM1L |
| DOLK |
| DPAGT1 |
| DPM1 |
| DPM2 |
| DPM3 |
| DPYD |
| DPYS |
| DSE |
| DUOX2 |
| DUOXA2 |
| E4F1 |
| EARS2 |
| EBP |
| ECHS1 |
| EGF |
| EHHADH |
| EIF2B1 |
| EIF2B2 |
| EIF2B3 |
| EIF2B4 |
| EIF2B5 |
| ELAC2 |
| ELOVL1 |
| ELOVL4 |
| ELOVL5 |
| ENO3 |
| ENPP1 |
| EOGT |
| EPG5 |
| EPHX1 |
| EPM2A |
| ERCC6 |
| ESR1 |
| ETFA |
| ETFB |
| ETFDH |
| ETHE1 |
| EXOSC3 |
| EXOSC8 |
| EXT1 |
| EXT2 |
| EXTL3 |
| FA2H |
| FAH |
| FAR1 |
| FARS2 |
| FASTKD2 |
| FBP1 |
| FBXL4 |
| FDFT1 |
| FDPS |
| FDX2 |
| FDXR |
| FECH |
| FH |
| FIG4 |
| FKRP |
| FKTN |
| FLAD1 |
| FMO3 |
| FOLR1 |
| FOXE1 |
| FOXRED1 |
| FTCD |
| FTH1 |
| FTL |
| FUCA1 |
| FUT8 |
| FXN |
| FXYD2 |
| G6PC1 |
| G6PC3 |
| G6PD |
| GABBR2 |
| GABRA1 |
| GABRA6 |
| GABRB1 |
| GABRB2 |
| GABRB3 |
| GABRD |
| GABRG2 |
| GAD1 |
| GALC |
| GALE |
| GALK1 |
| GALNS |
| GALNT3 |
| GALT |
| GAMT |
| GANAB |
| GARS1 |
| GATA1 |
| GATB |
| GATC |
| GATM |
| GBA1 |
| GBA2 |
| GBE1 |
| GCDH |
| GCH1 |
| GCK |
| GCLC |
| GCSH |
| GDAP1 |
| GFER |
| GFM1 |
| GFM2 |
| GFPT1 |
| GGCX |
| GGPS1 |
| GGT1 |
| GK |
| GLA |
| GLB1 |
| GLDC |
| GLRA1 |
| GLRB |
| GLRX5 |
| GLS |
| GLUD1 |
| GLUL |
| GLYCTK |
| GM2A |
| GMPPA |
| GMPPB |
| GNE |
| GNMT |
| GNPAT |
| GNPTAB |
| GNPTG |
| GNS |
| GOT2 |
| GPD1 |
| GPHN |
| GPI |
| GPIHBP1 |
| GPR161 |
| GPX4 |
| GPAA1 |
| GRHPR |
| GRIA3 |
| GRIA4 |
| GRIN1 |
| GRIN2A |
| GRIN2B |
| GRIN2D |
| GRM1 |
| GRM6 |
| GRN |
| GSR |
| GSS |
| GSTZ1 |
| GTPBP3 |
| GUSB |
| GYG1 |
| GYG2 |
| GYS1 |
| GYS2 |
| GAA |
| H6PD |
| HACD1 |
| HADH |
| HADHA |
| HADHB |
| HAL |
| HAMP |
| HAO1 |
| HARS1 |
| HARS2 |
| HCCS |
| HCFC1 |
| HEPACAM |
| HEXA |
| HEXB |
| HFE |
| HGD |
| HGSNAT |
| HHAT |
| HIBADH |
| HIBCH |
| HJV |
| HK1 |
| HLCS |
| HMBS |
| HMGCL |
| HMGCS2 |
| HMOX1 |
| HNF1A |
| HNF1B |
| HNF4A |
| HOGA1 |
| HPD |
| HPGD |
| HPRT1 |
| HSD11B1 |
| HSD11B2 |
| HSD17B10 |
| HSD17B3 |
| HSD17B4 |
| HSD3B2 |
| HSD3B7 |
| HSPA9 |
| HSPD1 |
| HTRA2 |
| HYAL1 |
| HAAO |
| IARS2 |
| IBA57 |
| IDH2 |
| IDH3B |
| IDS |
| IDUA |
| IFIH1 |
| IMPDH1 |
| INPP5E |
| INPPL1 |
| INS |
| INSR |
| ISCA1 |
| ISCA2 |
| ISCU |
| ITPA |
| ITPR1 |
| ITPR2 |
| IVD |
| IYD |
| JAG1 |
| JAGN1 |
| KARS1 |
| KCNA1 |
| KCNJ10 |
| KCNJ11 |
| KCTD7 |
| KHK |
| KLF11 |
| KMO |
| KYNU |
| L2HGDH |
| LAMA1 |
| LAMP2 |
| LARGE1 |
| LARS2 |
| LBR |
| LCAT |
| LCT |
| LDB3 |
| LDHA |
| LDHB |
| LDLR |
| LDLRAP1 |
| LFNG |
| LHX4 |
| LIAS |
| LIPA |
| LIPC |
| LIPE |
| LIPT1 |
| LIPT2 |
| LMBRD1 |
| LMF1 |
| LMNA |
| LONP1 |
| LPIN1 |
| LPIN2 |
| LPL |
| LRAT |
| LRPPRC |
| LYRM4 |
| LYRM7 |
| MAGT1 |
| MAN1B1 |
| MAN2B1 |
| MANBA |
| MAOA |
| MARS2 |
| MAT1A |
| MAT2A |
| MBD5 |
| MC2R |
| MCCC1 |
| MCCC2 |
| MCEE |
| MCOLN1 |
| MDH2 |
| MECR |
| MFF |
| MFN2 |
| MFSD2A |
| MFSD8 |
| MGAT2 |
| MGME1 |
| MICOS13 |
| MICU1 |
| MICU2 |
| MIPEP |
| MLC1 |
| MLPH |
| MLYCD |
| MMAB |
| MMACHC |
| MMADHC |
| MMUT |
| MMAA |
| MOCOS |
| MOCS1 |
| MOCS2 |
| MOGS |
| MPC1 |
| MPDU1 |
| MPI |
| MPV17 |
| MRAP |
| MRPL12 |
| MRPL3 |
| MRPL44 |
| MRPS16 |
| MRPS2 |
| MRPS22 |
| MRPS23 |
| MRPS34 |
| MRPS7 |
| MSMO1 |
| MSTO1 |
| MTFMT |
| MTHFD1 |
| MTHFR |
| MTHFS |
| MTM1 |
| MTMR2 |
| MTO1 |
| MTPAP |
| MTR |
| MTRFR |
| MTRR |
| MTTP |
| MVD |
| MVK |
| MYH2 |
| MYO5A |
| NADK2 |
| NAGA |
| NAGLU |
| NAGS |
| NALCN |
| NANS |
| NARS2 |
| NAXD |
| NAXE |
| NBAS |
| NDST1 |
| NDUFA1 |
| NDUFA10 |
| NDUFA11 |
| NDUFA12 |
| NDUFA13 |
| NDUFA2 |
| NDUFA4 |
| NDUFA9 |
| NDUFAF1 |
| NDUFAF2 |
| NDUFAF3 |
| NDUFAF4 |
| NDUFAF5 |
| NDUFAF6 |
| NDUFB10 |
| NDUFB11 |
| NDUFB3 |
| NDUFB8 |
| NDUFB9 |
| NDUFS1 |
| NDUFS2 |
| NDUFS3 |
| NDUFS4 |
| NDUFS6 |
| NDUFS7 |
| NDUFS8 |
| NDUFV1 |
| NDUFV2 |
| NEU1 |
| NEUROD1 |
| NFE2L2 |
| NFS1 |
| NFU1 |
| NGLY1 |
| NHLRC1 |
| NKX2-1 |
| NKX2-5 |
| NME1 |
| NMNAT1 |
| NNT |
| NOTCH2 |
| NPC1 |
| NPC2 |
| NR1H4 |
| NR3C1 |
| NSDHL |
| NT5C3A |
| NT5E |
| NUBPL |
| NUS1 |
| NAA10 |
| OAS1 |
| OAT |
| OCRL |
| OGDH |
| OGT |
| OPA1 |
| OPA3 |
| OPLAH |
| OTC |
| OXCT1 |
| PAH |
| PAM16 |
| PANK2 |
| PAPSS2 |
| PARK7 |
| PARS2 |
| PAX4 |
| PAX8 |
| PC |
| PCBD1 |
| PCCA |
| PCCB |
| PCK1 |
| PCK2 |
| PCLO |
| PCSK9 |
| PCYT1A |
| PDE12 |
| PDHA1 |
| PDHB |
| PDHX |
| PDK3 |
| PDP1 |
| PDSS1 |
| PDSS2 |
| PDX1 |
| PDZK1IP1 |
| PEPD |
| PET100 |
| PEX1 |
| PEX10 |
| PEX11B |
| PEX12 |
| PEX13 |
| PEX14 |
| PEX16 |
| PEX19 |
| PEX2 |
| PEX26 |
| PEX3 |
| PEX5 |
| PEX6 |
| PEX7 |
| PFKM |
| PGAM2 |
| PGAP1 |
| PGAP2 |
| PGAP3 |
| PGK1 |
| PGM1 |
| PGM3 |
| PHGDH |
| PHKA1 |
| PHKA2 |
| PHKB |
| PHKG2 |
| PHYH |
| PHYKPL |
| PIGA |
| PIGC |
| PIGG |
| PIGH |
| PIGL |
| PIGM |
| PIGN |
| PIGO |
| PIGP |
| PIGQ |
| PIGT |
| PIGV |
| PIGW |
| PIK3CA |
| PIK3CD |
| PIK3R1 |
| PIK3R2 |
| PIK3R5 |
| PIKFYVE |
| PINK1 |
| PIP5K1C |
| PITRM1 |
| PKLR |
| PLA2G6 |
| PLCB1 |
| PLCB3 |
| PLCB4 |
| PLCD1 |
| PLCE1 |
| PLCG2 |
| PLIN1 |
| PLPBP |
| PMM2 |
| PMPCA |
| PMPCB |
| PMVK |
| PNP |
| PNPLA1 |
| PNPLA2 |
| PNPLA4 |
| PNPLA6 |
| PNPLA8 |
| PNPO |
| PNPT1 |
| POFUT1 |
| POGLUT1 |
| POLG |
| POLG2 |
| POMGNT1 |
| POMGNT2 |
| POMK |
| POMT1 |
| POMT2 |
| POR |
| PORCN |
| PPA2 |
| PPCS |
| PPM1K |
| PPOX |
| PPP2R1A |
| PPP2R5D |
| PPT1 |
| PRDX1 |
| PREPL |
| PRKAG2 |
| PRKCSH |
| PRKN |
| PRODH |
| PRODH2 |
| PRPS1 |
| PSAP |
| PSAT1 |
| PSPH |
| PTDSS1 |
| PTEN |
| PTRH2 |
| PTS |
| PURA |
| PUS1 |
| PYCR1 |
| PYCR2 |
| PYGL |
| PYGM |
| QARS1 |
| QDPR |
| QRSL1 |
| RAB27A |
| RAB3GAP1 |
| RAB7A |
| RARS1 |
| RARS2 |
| RBCK1 |
| RBP3 |
| RBP4 |
| RDH11 |
| RDH12 |
| RDH5 |
| RFT1 |
| RFX6 |
| RLBP1 |
| RMND1 |
| RNASEH1 |
| RNASEH2A |
| RNASEH2B |
| RNASEH2C |
| RNASET2 |
| RNF31 |
| RPE65 |
| RPIA |
| RRM2B |
| RTN4IP1 |
| RXYLT1 |
| SACS |
| SAMHD1 |
| SAR1B |
| SARDH |
| SARS2 |
| SBF1 |
| SBF2 |
| SC5D |
| SCARB2 |
| SCN1A |
| SCO1 |
| SCO2 |
| SCP2 |
| SDHA |
| SDHAF1 |
| SDHAF2 |
| SDHB |
| SDHC |
| SDHD |
| SDR9C7 |
| SEC23A |
| SEC23B |
| SECISBP2 |
| SELENBP1 |
| SELENOI |
| SEPSECS |
| SERAC1 |
| SFXN4 |
| SGPL1 |
| SGSH |
| SHPK |
| SI |
| SLC10A1 |
| SLC10A2 |
| SLC11A2 |
| SLC12A3 |
| SLC16A1 |
| SLC16A2 |
| SLC17A5 |
| SLC18A2 |
| SLC19A2 |
| SLC19A3 |
| SLC1A1 |
| SLC1A2 |
| SLC1A3 |
| SLC1A4 |
| SLC22A12 |
| SLC22A5 |
| SLC25A1 |
| SLC25A10 |
| SLC25A12 |
| SLC25A13 |
| SLC25A15 |
| SLC25A19 |
| SLC25A20 |
| SLC25A22 |
| SLC25A24 |
| SLC25A26 |
| SLC25A3 |
| SLC25A32 |
| SLC25A38 |
| SLC25A4 |
| SLC25A42 |
| SLC25A46 |
| SLC26A1 |
| SLC26A2 |
| SLC26A4 |
| SLC27A4 |
| SLC27A5 |
| SLC29A1 |
| SLC29A3 |
| SLC2A1 |
| SLC2A10 |
| SLC2A2 |
| SLC2A9 |
| SLC30A10 |
| SLC30A2 |
| SLC30A9 |
| SLC33A1 |
| SLC35A1 |
| SLC35A2 |
| SLC35A3 |
| SLC35C1 |
| SLC35D1 |
| SLC36A2 |
| SLC37A4 |
| SLC38A8 |
| SLC39A13 |
| SLC39A14 |
| SLC39A4 |
| SLC39A8 |
| SLC3A1 |
| SLC40A1 |
| SLC45A1 |
| SLC46A1 |
| SLC52A1 |
| SLC52A2 |
| SLC52A3 |
| SLC5A1 |
| SLC5A2 |
| SLC5A5 |
| SLC5A6 |
| SLC6A1 |
| SLC6A17 |
| SLC6A19 |
| SLC6A20 |
| SLC6A3 |
| SLC6A5 |
| SLC6A8 |
| SLC6A9 |
| SLC7A2 |
| SLC7A5 |
| SLC7A7 |
| SLC7A9 |
| SLC9A1 |
| SLCO1B1 |
| SLCO1B3 |
| SLCO2A1 |
| SMPD1 |
| SMS |
| SNX14 |
| SORD |
| SPG11 |
| SPG7 |
| SPR |
| SPTLC1 |
| SPTLC2 |
| SRD5A3 |
| SSBP1 |
| SSR3 |
| SSR4 |
| ST3GAL3 |
| ST3GAL5 |
| STAP1 |
| STAR |
| STAT2 |
| STING1 |
| STRA6 |
| STS |
| STT3A |
| STT3B |
| STX3 |
| STXBP1 |
| STXBP5L |
| SUCLA2 |
| SUCLG1 |
| SUGCT |
| SUMF1 |
| SUOX |
| SURF1 |
| SYNJ1 |
| SZT2 |
| TACO1 |
| TAFAZZIN |
| TALDO1 |
| TANGO2 |
| TARS2 |
| TAT |
| TBK1 |
| TBXAS1 |
| TCN1 |
| TCN2 |
| TDO2 |
| TECPR2 |
| TECR |
| TF |
| TFAM |
| TFR2 |
| TFRC |
| TG |
| TH |
| THAP11 |
| TIMM50 |
| TIMM8A |
| TIMMDC1 |
| TJP2 |
| TK2 |
| TKT |
| TMEM126A |
| TMEM126B |
| TMEM165 |
| TMEM199 |
| TMEM240 |
| TMEM70 |
| TMLHE |
| TMPRSS6 |
| TPI1 |
| TPK1 |
| TPMT |
| TPO |
| TPP1 |
| TRAK1 |
| TRAPPC11 |
| TREH |
| TREX1 |
| TRIP11 |
| TRIT1 |
| TRMT10C |
| TRMT5 |
| TRMU |
| TRNT1 |
| TRPM6 |
| TSFM |
| TSHR |
| TTC19 |
| TTPA |
| TUFM |
| TUSC3 |
| TWNK |
| TXN2 |
| TXNRD2 |
| TYMP |
| TYR |
| UBIAD1 |
| UBQLN2 |
| UCP2 |
| UGCG |
| UGT1A1 |
| UMPS |
| UNG |
| UPB1 |
| UQCC2 |
| UQCC3 |
| UQCRB |
| UQCRC2 |
| UQCRQ |
| UROC1 |
| UROD |
| UROS |
| USP9X |
| VARS2 |
| VCP |
| VDR |
| VKORC1 |
| VPS13B |
| VPS33A |
| VPS53 |
| WARS2 |
| WDR45 |
| WFS1 |
| WWOX |
| XDH |
| XPNPEP3 |
| XPR1 |
| XYLT1 |
| XYLT2 |
| YARS2 |
| YME1L1 |
| ZBTB42 |
| ZDHHC15 |
| ZDHHC9 |
| ZFYVE26 |
| ZNF143 |
| AARS1 |
| AARS2 |
| AASS |
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