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פאנלים

Inborn errors of metabolism

GC_41

Last update: 18.01.2026

Inborn errors of metabolism are a heterogeneous group of genetic disorders affecting biochemical pathways involved in cellular metabolism. These conditions may disrupt amino acid, organic acid, carbohydrate, lipid, lysosomal, peroxisomal, or mitochondrial pathways. Clinical manifestations range from severe neonatal metabolic crises to progressive or episodic multisystem disease presenting in childhood or adulthood.

This comprehensive panel includes genes associated with the major categories of inherited metabolic disease, including amino acid disorders, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, mitochondrial diseases, lysosomal storage disorders, peroxisomal disorders, glycogen storage diseases, and disorders of carbohydrate metabolism.

This panel is recommended for patients with suspected inherited metabolic disease, particularly those with multisystem involvement, unexplained metabolic abnormalities, recurrent metabolic decompensation, or inconclusive biochemical investigations.
AAAS, AARS2, AASS, ABAT, ABCA1, ABCB11, ABCB4, ABCB6, ABCB7, ABCC2, ABCC8, ABCD1, ABCD3, ABCD4, ABCG5, ABCG8, ABHD12, ABHD5, ACACA, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ACO2, ACOX1, ACOX2, ACSF3, ACY1, ADA, ADAMTSL2, ADAR, ADK, ADSL, AFG3L2, AGA, AGK, AGL, AGPAT2, AGPS, AGXT, AHCY, AIFM1, AKR1D1, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMN, AMPD1, AMT, ANO10, ANO5, ANTXR2, AP1B1, AP1S1, APOA1, APOA2, APOA5, APOB, APOC2, APOE, APRT, APTX, ARG1, ARSA, ARSB, ARSG, ARSK, ARSL, ASAH1, ASL, ASPA, ASS1, ATAD3A, ATIC, ATP13A2, ATP2A1, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1E, ATP5MC3, ATP5PO, ATP6AP1, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATPAF2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, BAAT, BCAP31, BCAT2, BCKDHA, BCKDHB, BCKDK, BCS1L, BOLA3, BSCL2, BSND, BTD, C10ORF2, C12ORF65, C19orf12, C1QBP, C2orf69, CA5A, CACNA1S, CAPN3, CARS2, CASQ1, CASR, CAT, CAV1, CAV3, CAVIN1, CBLIF, CBS, CCDC115, CD320, CETP, CFTR, CHCHD10, CHKB, CHST14, CHST3, CHST6, CHSY1, CIDEC, CISD2, CLCN1, CLCN7, CLCNKB, CLDN16, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLPP, CMPK2, CNNM2, CNNM4, COA3, COA6, COA7, COA8, COASY, COG1, COG3, COG4, COG5, COG6, COG7, COG8, COL11A2, COL2A1, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX11, COX14, COX15, COX18, COX20, COX4I1, COX4I2, COX5A, COX6A1, COX6A2, COX6B1, COX7B, CP, CPOX, CPS1, CPT1A, CPT2, CREB3L3, CRLS1, CRPPA, CSGALNACT1, CSTB, CTDP1, CTH, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CYB5A, CYB5R3, CYC1, CYCS, CYP11B1, CYP17A1, CYP19A1, CYP21A2, CYP27A1, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBH, DBT, DCC, DCXR, DDC, DDOST, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHODH, DHRSX, DHTKD1, DIABLO, DLAT, DLD, DLX4, DMD, DNA2, DNAJB6, DNAJC12, DNAJC19, DNAJC5, DNM1L, DNM2, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DPYS, DYM, DYSF, EARS2, EBP, ECHS1, EDEM3, EGF, EHBP1L1, EHHADH, ELAC2, EMD, ENO3, ENPP1, EOGT, EPG5, EPHX2, EPM2A, ERAL1, ETFA, ETFB, ETFDH, ETHE1, EXT1, EXT2, FA2H, FAH, FAM111A, FAR1, FARS2, FASTKD2, FBP1, FBXL4, FCSK, FDX2, FDXR, FECH, FGF23, FGFR2, FH, FHL1, FKRP, FKTN, FLAD1, FLNA, FLNB, FMO3, FOLR1, FOXRED1, FTCD, FUCA1, FUT8, FXN, FXYD2, G6PC1, G6PC3, G6PD, GAA, GABRG2, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GARS1, GATC, GATM, GBA, GBE1, GCDH, GCGR, GCH1, GCK, GCLC, GCSH, GDAP1, GFER, GFM1, GFM2, GFPT1, GHR, GK, GLA, GLB1, GLDC, GLRA1, GLRX5, GLS, GLUD1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC3, GPD1, GPHN, GPIHBP1, GPT2, GRHPR, GRN, GSS, GSTZ1, GTPBP3, GUK1, GUSB, GYG1, GYS1, GYS2, HAAO, HADH, HADHA, HADHB, HAMP, HARS2, HCCS, HCFC1, HEXA, HEXB, HFE, HGD, HGSNAT, HIBCH, HJV, HLCS, HMBS, HMGCL, HMGCS2, HMOX1, HNF1A, HNF1B, HNF4A, HOGA1, HPD, HPDL, HPRT1, HPS1, HRAS, HS2ST1, HSD11B2, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HTRA2, HYAL1, IARS2, IBA57, IDH1, IDH2, IDH3A, IDS, IDUA, IER3IP1, IFIH1, INSR, ISCA1, ISCA2, ISCU, ITPA, IVD, KARS1, KCNA1, KCNJ10, KCNJ11, KCNJ2, KHK, KYNU, L2HGDH, LAMA2, LAMP2, LARGE1, LARS1, LARS2, LBR, LCAT, LCT, LDB3, LDHA, LDHD, LDLR, LDLRAP1, LETM1, LFNG, LIAS, LIG3, LIPA, LIPC, LIPE, LIPT1, LIPT2, LMBRD1, LMF1, LMNA, LONP1, LPA, LPIN1, LPL, LRPPRC, LYRM4, LYRM7, MAGT1, MAN1B1, MAN2B1, MAN2B2, MANBA, MAOA, MARS2, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MDH2, MECR, MFF, MFN2, MFSD8, MGAT2, MGME1, MICOS13, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT, MOCOS, MOCS1, MOCS2, MOGS, MPC1, MPDU1, MPI, MPV17, MRM2, MRPL3, MRPL39, MRPL44, MRPL49, MRPS14, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MSMO1, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MTFMT, MTHFR, MTO1, MTPAP, MTR, MTRFR, MTRR, MTTP, MVK, MYH3, MYOT, NADK2, NAGA, NAGLU, NAGS, NARS2, NAXD, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB7, NDUFB8, NDUFB9, NDUFC2, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEU1, NFS1, NFU1, NGLY1, NHLRC1, NIPA2, NNT, NPC1, NPC2, NR0B1, NSDHL, NSUN3, NT5C3A, NT5E, NUBPL, NUS1, OAT, OCRL, OGDH, OPA1, OPA3, OPLAH, OTC, OXCT1, PAH, PANK2, PARS2, PC, PCBD1, PCCA, PCCB, PCK1, PCSK9, PDE12, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PET117, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PINK1, PITRM1, PKLR, PLA2G6, PLIN1, PLPBP, PMM2, PMPCA, PMPCB, PNP, PNPLA2, PNPLA8, PNPO, PNPT1, POLG, POLG2, POLRMT, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PPA2, PPARG, PPM1K, PPOX, PPP1R17, PPT1, PRDX1, PRKAG2, PRKAG3, PRODH, PRORP, PRPS1, PSAP, PSAT1, PSPH, PTCD3, PTF1A, PTS, PUS1, PYCR1, PYGL, PYGM, QARS1, QDPR, QRSL1, RAI1, RANBP2, RARS2, RBCK1, RBP4, REN, RFT1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RPIA, RPL10, RRM2B, RTN4IP1, RXYLT1, RYR1, SACS, SAMHD1, SAR1B, SARS2, SC5D, SCN4A, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23B, SERAC1, SERPINA1, SETX, SFXN4, SGCA, SGCB, SGCD, SGCG, SGSH, SHMT2, SI, SIL1, SKIV2L, SLC12A3, SLC13A3, SLC16A1, SLC17A5, SLC18A2, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A32, SLC25A36, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC2A2, SLC30A10, SLC31A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A13, SLC39A14, SLC39A4, SLC39A8, SLC3A1, SLC40A1, SLC46A1, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A6, SLC6A19, SLC6A3, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SPATA5, SPG7, SPR, SPTLC1, SPTLC2, SQOR, SRD5A3, SSBP1, SSR3, SSR4, ST3GAL3, ST3GAL5, STAC3, STAT2, STS, STT3A, STT3B, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, SUPV3L1, SURF1, TACO1, TAFAZZIN, TALDO1, TAMM41, TANGO2, TARS2, TAT, TBC1D4, TCAP, TCF4, TCN2, TEFM, TFAM, TFR2, TH, THAP11, TIMM50, TIMM8A, TIMMDC1, TK2, TKFC, TMEM126A, TMEM126B, TMEM165, TMEM199, TMEM65, TMEM70, TNPO3, TOMM7, TOP3A, TPK1, TPMT, TPP1, TRAP1, TRAPPC11, TREX1, TRIM32, TRIM37, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM6, TRPM7, TSFM, TTC19, TTC37, TTPA, TUFM, TUSC3, TWNK, TYMP, UCP2, UGGT1, UGT1A1, UMOD, UMPS, UPB1, UQCC2, UQCC3, UQCRB, UQCRC1, UQCRC2, UQCRFS1, UQCRQ, UROC1, UROD, UROS, VARS2, VIPAS39, VKORC1, VPS16, VPS33A, VPS33B, WARS2, WDR45, WFS1, XDH, XPNPEP3, XYLT1, XYLT2, YARS2, YME1L1, ZMPSTE24, ZNF143

ClinVar P/LP variants (IDs) not covered: AGL:[4529480] | CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028] | CYP11B1:[4281641] | DMD:[3235708]; [4292852]; [4277362]; [2637520] | GABRG2:[3757681] | GALNS:[3600992]; [3600991] | GALT:[4541441] | GLA:[1678527] | GNE:[4068787] | HADHB:[3359235] | HPRT1:[4532158] | HPS1:[4077138] | IDUA:[2507023]; [3393459] | MAN2B1:[3024226] | OTC:[4072311] | PAH:[242452] | PANK2:[3897668] | PEX14:[3663959] | RAI1:[1321231] | SERAC1:[4526663] | SGCB:[4277883] | SSR4:[1878509] | TK2:[3778875]

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