Fanconi-bickel Syndrome; Fbs

Description

Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966).Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.

Genes related to Fanconi-bickel Syndrome; Fbs

SLC2A2

Clinical Features

Top most frequent phenotypes and symptoms related to Fanconi-bickel Syndrome; Fbs

Global developmental delay
Short stature
Pica
Growth delay
Failure to thrive
Cataract
Hepatomegaly
Fever
Vomiting
Obesity

And another 52 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

Accelerate your rare disease diagnosis with us

Learn more

Fanconi-bickel Syndrome; Fbs Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Maturity-Onset Diabetes of the Young. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. HNF1A, NEUROD1, HNF1B, WFS1, GCK, CISD2, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK , (...) View the complete list with 5 more genes Panel GTR000552325 complete gene list HNF1A, NEUROD1, HNF1B, WFS1, GCK, CISD2, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3 Specificity 4 % Genes 100 %
SLC2A2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. SLC2A2 Specificity 100 % Genes 100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago in United States. NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...) View the complete list with 21 more genes Panel GTR000560755 complete gene list NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, LRBA, APPL1, IL2RA, DUT, NKX2-2, MNX1, DNAJC3, TRMT10A, ZBTB20, ZFP57 Specificity 3 % Genes 100 %
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel. By Genetic Services Laboratory University of Chicago in United States. NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2 , (...) View the complete list with 21 more genes Panel GTR000501103 complete gene list NEUROD1, WFS1, GCK, GLUD1, CISD2, STAT3, AIRE, CDKN1C, ABCC8, CEL, KCNJ11, INS, PDX1, FOXP3, CP, GATA4, IER3IP1, PCBD1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, LRBA, APPL1, IL2RA, DUT, NKX2-2, MNX1, DNAJC3, TRMT10A, ZBTB20, ZFP57 Specificity 3 % Genes 100 %
SLC2A2 deletion/duplication analysis. By Genetic Services Laboratory University of Chicago in United States. SLC2A2 Specificity 100 % Genes 100 %
SLC2A2 sequencing. By Genetic Services Laboratory University of Chicago in United States. SLC2A2 Specificity 100 % Genes 100 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States. OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...) View the complete list with 29 more genes Panel GTR000552069 complete gene list OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, FGF23, ATP6V1B1, GATA3, GNAS, NR3C2, KLHL3, SLC2A2, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, PTH, GCM2, ENPP1, CLCN5, SLC34A3, AVP, GALNT3, CUL3, WNK4, FAM20A, CLDN16, CLDN19, SLC22A12 Specificity 3 % Genes 100 %
Glycogen Storage Disease- Liver. By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom. AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PFKL, GYG2 Specificity 8 % Genes 100 %
SLC2A2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SLC2A2 Specificity 100 % Genes 100 %
Glycogen Storage Disease Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1 Specificity 6 % Genes 100 %
Glycogen Storage Disease Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1 Specificity 6 % Genes 100 %
Glycogen Storage Disease Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. AGL, ACAT1, FBP1, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PYGL, G6PC, PHKG2, PHKA1, PHKB, PFKM, GBE1, SLC2A2, PCK1 Specificity 6 % Genes 100 %
Fanconi-Bickel syndrome (sequence analysis of SLC2A2 gene). By CGC Genetics in Portugal. SLC2A2 Specificity 100 % Genes 100 %
Glycogen storage disease (NGS panel for 13 genes). By CGC Genetics in Portugal. AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2, PCK1 Specificity 8 % Genes 100 %
Glycogen storage disease (NGS panel for 22 genes). By CGC Genetics in Portugal. AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, PRKAG2 , (...) View the complete list with 2 more genes Panel GTR000525718 complete gene list AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, PRKAG2, SLC2A2, GYG1 Specificity 5 % Genes 100 %
Fanconi-Bickel syndrome. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. SLC2A2 Specificity 100 % Genes 100 %
Fanconi-Bickel Syndrome. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. SLC2A2 Specificity 100 % Genes 100 %
Fanconi-Bickel Syndrome. By Exeter Molecular Genetics Laboratory in United Kingdom. SLC2A2 Specificity 100 % Genes 100 %
Glycogen Storage Disease and Disorders of Glucose Metabolism Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2 , (...) View the complete list with 8 more genes Panel GTR000512789 complete gene list AGL, ALDOA, ALDOB, PC, GYS2, GAA, SLC37A4, SLC16A1, PHKA2, PCK2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2, GYG1, PCK1 Specificity 4 % Genes 100 %
Metabolic Hypoglycemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT , (...) View the complete list with 2 more genes Panel GTR000551924 complete gene list AGL, ACAT1, ALDOB, FBP1, PC, GYS2, SLC37A4, SLC16A1, ACSF3, PHKA2, PCK2, HMGCL, PYGL, G6PC, PHKG2, PGM1, PHKB, MLYCD, OXCT1, GALT, SLC2A2, PCK1 Specificity 5 % Genes 100 %
Fanconi-Bickel Syndrome via the SLC2A2 Gene. By PreventionGenetics PreventionGenetics in United States. SLC2A2 Specificity 100 % Genes 100 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, RRM2B, SLC25A13, SDHC, HADHA, FH, CYP11B2, PDSS2, COQ6, SARS2, FAH, HMGCL, CCDC28B, XPNPEP3, G6PC, CYP24A1, SDHB, SLC9A3R1, SUCLA2, IQCB1, HADHB, ALG8, COQ2, PCCB, PCCA, STRA6, OTC, XDH, MMADHC, LMBRD1, PGAM2, CUBN, AGXT, CA2, MMAB, MMAA, MUT, SUCLG1, CBS, PYGM, ETFB, ETFA, ETFDH, GCDH, GALT, FASTKD2, COX6B1, SLC3A1, ASS1, SLC22A5, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ASL, ALMS1, CYP17A1, TMEM127, LMX1B, MEN1, PAX2, TACO1, SDHA, ABCD4, APRT, DHCR7, GLA, HRAS, NPC1, VDR, TSC2, TSC1, NF2, SDHD, FLCN, MET, MAX, SBDS, PRKAR1A, CDC73, RAD51C, COL4A3, CTNS, PEX2, NPHS2, NPHS1, PEX7, SLC7A7, GRHPR, MPL, PEX1, PKHD1, TMEM216, WNK1, AHI1, ATXN10, NF1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, SLC12A3, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, KCNA1, CACNA1H, SCARB2, TBC1D24, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CACNA1D, DCDC2, SIX5, PRPS1, SIX1, GATA3, MYH9, PEX6, TMEM231, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5, KAT6B, WDR35, CLCNKA, MVK, SOX18, PTH1R, AGTR2, MAGT1, TNXB, KCNJ5, POC1B, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PGK1, MEFV, ACE, SALL4, JAK3, CD2AP, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, GNAS, NR3C2, CFHR1, CFHR3, DGKE, ADAMTS13, APOL1, CDKN1B, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A, LRBA, ITGA3, NFKB2, SMARCAL1, CD19, CR2, CD81, HOGA1, ICOS, TNFRSF13C, PRKCSH, MS4A1, NOTCH2, TCTN3, IFT74, IFT172, KIAA0556, CEP104, CEP120, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, CCNQ, FRAS1, NEK1, WDR60, LRP4, CFHR4, CRB2, MUC1, REN, LRP2, STX16, GCM2, ENPP1, CLCN5, SLC34A3, DMP1, DICER1, SERAC1, SLC6A19, COA5, APOPT1, WDR73, LAMC1, KANK2, MYO1E, GALNT3, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, LIFR, EIF2AK4, SLC2A9, SEC63, PEX11B, SEC61A1, GANAB, SLC7A9, FXYD2, SLC5A2, UROD, KL, TRPM6, HMBS, SLC26A3, LRIG2, DIS3L2, GUCY2C, NFKB1, IL21, LYZ, HPSE2, TALDO1, CNNM2, EGF, SOX17, AGT, ARHGDIA, MAFB, ROBO2, BICC1, SLC16A12, CHRM3, WDR34, EMP2, PTPRO, ITGA8, FGF20, ANLN, EHHADH, ALAD, KANK1, TBX18, CFHR2, AGTR1, UPK3A, TRAP1, LAMA5, SGPL1, XPO5, KANK4, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, BMP7, CDC5L, CHD1L, DSTYK, FAN1, FN1, PDE3A, SLC26A1, MOCOS, MAPKBP1, RMND1, IFT52, DYNC2LI1, MAGED2, NRIP1, KCNMB1, SLC22A10, SLC36A2, SLC41A1, TBC1D1, MAGEC1, SLC6A20, KANK3, TMEM260, CLDN10 Specificity 1 % Genes 100 %
Fanconi-Bickel syndrome. By Centogene AG - the Rare Disease Company in Germany. SLC2A2 Specificity 100 % Genes 100 %
Fanconi-Bickel syndrome. By Centogene AG - the Rare Disease Company in Germany. SLC2A2 Specificity 100 % Genes 100 %
Glycogen Storage Disease. By Asper Biogene Asper Biogene LLC in Estonia. AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...) View the complete list with 5 more genes Panel GTR000558527 complete gene list AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, PGK1, SLC2A2, GYG1 Specificity 4 % Genes 100 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B, ELN, EYA4, CPT2, WFS1, GNPTAB, GLB1, FOXC1, PITX2, JAG1, NPHP4, PCDH15, DSP, DLD, SLC25A4, GCK, FOXRED1, CRYAB, RAF1, OPA3, FBN1, MTO1, MRPL3, LIAS, GPD1, AGK, DNM1L, TMEM70, FAH, IDH2, CAVIN1, SLC39A13, MRPS22, SLC25A3, PNPLA2, TSFM, DNAJC19, GFM1, MEF2A, COQ2, SCO2, PDHA1, TAZ, PHKA1, COX15, SURF1, GUSB, MLYCD, CBS, PYGM, FXN, COX6B1, SLC22A5, PMM2, ALMS1, ZFHX3, COL5A1, COL5A2, SDHA, DOLK, BRAF, CHD7, CREBBP, DMD, FOXF1, GLA, HRAS, KRAS, LDLR, LEP, LIPA, MAP2K1, NRAS, PLOD1, PTPN11, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, BMPR1A, SMAD4, ENG, ADAMTS2, FKTN, MTTP, SGCA, SGCB, CAPN3, LMNA, PSEN2, APOE, NOTCH3, FKRP, CAV3, NF1, CEL, KCNJ11, INS, PDX1, HNF4A, TTN, DES, MYH7, FLNC, ANO5, MYOT, LDB3, BSCL2, BAG3, FHL1, RYR1, MYBPC3, ACTA1, SYNE1, TMEM43, SYNE2, EMD, TCAP, SGCD, KCNJ2, KCND3, LAMA2, KCNH2, SCN1B, HCN4, SCN5A, FLNA, KMT2D, CACNA2D1, KANSL1, TBX1, CACNA1D, KCNE1, KCNQ1, MED12, FOXP1, EHMT1, CACNA1C, CTNNB1, LZTR1, RASA1, FOXP3, LAMP2, UPF3B, ZDHHC9, SPRED1, RASA2, RRAS, A2ML1, ABCB1, NODAL, FOXH1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, CHST14, ACVR1, TRPM4, SLMAP, KCNJ8, ABCC9, SCN2B, SCN3B, KCNE3, CACNB2, GPD1L, PKP2, ANK2, RYR2, CALM1, CALM2, TRDN, KCNE2, KCNJ5, SNTA1, CASQ2, AKAP9, SCN4B, ACVRL1, BMPR1B, GDF2, KCNK3, CAV1, SMAD9, EFEMP2, KCNA5, BMPR2, PDLIM3, ILK, NEBL, ACTC1, MYLK2, TGFB3, LAMA4, PRDM16, NKX2-5, ANKRD1, TNNC1, TNNI3, MYH6, PRKAG2, PLN, NEXN, DSG2, JUP, MYPN, RANGRF, TPM1, TNNT2, GATAD1, JPH2, MYOZ2, RBM20, ACTN2, CSRP3, DSC2, MYL2, MYL3, DTNA, AMPD1, TOR1AIP1, SPEG, VCL, ZMPSTE24, PRKG1, MFAP5, NOS1AP, SALL4, TBX5, EP300, GJA1, FHL2, B3GAT3, ABCG5, ABCG8, CYP2D6, OBSCN, TXNRD2, TMPO, ZIC3, GDF1, GATA4, EVC, IER3IP1, NPC1L1, CITED2, LEFTY2, CRELD1, ACVR2B, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, PDGFRA, INSR, CFC1, XK, TDGF1, COL7A1, NPPA, GJA5, NOTCH2, TBC1D4, CIDEC, PLIN1, AGPAT2, ZFPM2, ANK3, OBSL1, FGF12, COA5, SCN10A, CTNNA3, KCNE5, ADAMTSL4, GATA5, APOC3, LIPC, PLTP, CHRM2, CAVIN4, SLCO1B1, EIF2AK4, TBX20, MIB1, CALR3, ASPH, CALM3, MYLIP, SAR1B, TFAP2B, SMAD6, TAB2, TNNI3K, CYP3A4, INSIG2, LRP6, PKP4, KLF10, TRIM63, COA6, MED13L, KCND2, MRPL44, NKX2-6, CYP3A5, MCTP2, IRX4, SMAD1, FOXD4, FHOD3, PERP, PPP1R13L, KCNK17, IRX3, SLC22A8, LPA, MYOM1, PPARA, NNT, SLC25A40, HAND2, GREM2, ISL1, TOPBP1, TRIB1, BMP10, CH25H Specificity 1 % Genes 100 %
Maturity-onset diabetes of the young MODY. By Health in Code in Spain. HNF1A, NEUROD1, HNF1B, WFS1, GCK, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A , (...) View the complete list with 3 more genes Panel GTR000530655 complete gene list HNF1A, NEUROD1, HNF1B, WFS1, GCK, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, TBC1D4 Specificity 5 % Genes 100 %
Dyslipidemias / Early atherosclerosis. By Health in Code in Spain. HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE , (...) View the complete list with 64 more genes Panel GTR000530656 complete gene list HNF1A, NEUROD1, PPARG, HNF1B, CPT2, WFS1, PCDH15, GCK, GPD1, CAVIN1, PNPLA2, MEF2A, COQ2, PYGM, LDLR, LEP, LIPA, MTTP, LMNA, APOE, CEL, KCNJ11, INS, PDX1, HNF4A, BSCL2, RYR1, FOXP3, ABCB1, CAV1, AMPD1, ZMPSTE24, ABCG5, ABCG8, CYP2D6, IER3IP1, NPC1L1, CETP, SCARB1, APOA1, PCSK9, LDLRAP1, APOB, APOA5, LPL, LMF1, APOC2, GPIHBP1, ANGPTL3, ABCG1, LCAT, ABCA1, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, TBC1D4, CIDEC, PLIN1, AGPAT2, APOC3, LIPC, PLTP, SLCO1B1, MYLIP, SAR1B, CYP3A4, INSIG2, LRP6, CYP3A5, SLC22A8, LPA, PPARA, SLC25A40, TRIB1, CH25H Specificity 2 % Genes 100 %
Invitae Liver Glycogen Storage Disease Panel. By Invitae in United States. AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2 Specificity 10 % Genes 100 %
Invitae Comprehensive Glycogen Storage Disease Panel. By Invitae in United States. AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...) View the complete list with 3 more genes Panel GTR000553797 complete gene list AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, SLC2A2, RBCK1, GYG1 Specificity 5 % Genes 100 %
Fanconi-Bickel syndrome: SLC2A2 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SLC2A2 Specificity 100 % Genes 100 %
DIABETES (MODY). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. HNF1A, NEUROD1, HNF1B, GCK, KCNJ11, PDX1, HNF4A, SLC2A2, PAX4, KLF11, BLK Specificity 10 % Genes 100 %
GLYCOGEN STORAGE DISEASE. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2 , (...) View the complete list with 4 more genes Panel GTR000531482 complete gene list AGL, ALDOA, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, PGK1, SLC2A2, GYG1 Specificity 5 % Genes 100 %
Endocrine Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...) View the complete list with 37 more genes Panel GTR000512596 complete gene list HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, INS, PDX1, HNF4A, BSCL2, FOXP3, POR, ZMPSTE24, NR5A1, IER3IP1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, GATA6, EIF2AK3, INSR, TBC1D4, CIDEC, AGPAT2, CYP19A1, NSMF, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, TAC3, KISS1, GDF9 Specificity 2 % Genes 100 %
Glycogen Storage Disorders- Liver: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2 Specificity 10 % Genes 100 %
Glycogen Storage Disorders: Comprehensive Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2 Specificity 5 % Genes 100 %
Endocrine Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR , (...) View the complete list with 37 more genes Panel GTR000558824 complete gene list HNF1A, NEUROD1, PPARG, HNF1B, WFS1, GCK, CAVIN1, CISD2, CYP17A1, CHD7, ABCC8, LMNA, NR0B1, GNRH1, FGFR1, LHCGR, KCNJ11, TACR3, KISS1R, GNRHR, PROKR2, PROK2, FGF8, INS, PDX1, HNF4A, BSCL2, FOXP3, POR, ZMPSTE24, NR5A1, IER3IP1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, GATA6, EIF2AK3, INSR, TBC1D4, CIDEC, AGPAT2, CYP19A1, NSMF, PSMC3IP, FIGLA, NOBOX, BMP15, FSHR, TAC3, KISS1, GDF9 Specificity 2 % Genes 100 %
Glycogen Storage Disorders- Liver: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AGL, FBP1, GYS2, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PHKB, GBE1, SLC2A2 Specificity 10 % Genes 100 %
Glycogen Storage Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. AGL, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, ENO3, GYS1, PHKB, PGAM2, PFKM, PYGM, GBE1, LAMP2, PRKAG2, SLC2A2 Specificity 5 % Genes 100 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2, PAX6, TUBB3, MTR, CPS1, PYCR1, GNPTAB, CC2D2A, SRD5A3, HSD17B10, ELOVL4, NDP, TMEM67, NPHP3, MKKS, CEP290, HSPD1, GCK, SLC25A13, MECP2, FBN1, PDSS1, ALDH18A1, TMEM70, PHKA2, XPNPEP3, PYGL, PHKG2, SLC25A12, GAMT, SPR, STXBP1, TUBA1A, DARS2, TUSC3, HAX1, GFM1, COG7, AP3B1, ALG12, ALG6, MPI, MYO7A, STRA6, D2HGDH, AIFM1, ACSL4, AMER1, SLC9A6, ABCD1, MMADHC, LMBRD1, GM2A, HEXB, SLC35C1, ACOX1, PAH, CTSA, GUSB, SGSH, MOCS2, NDUFA1, NDUFS1, NDUFAF5, CYB5R3, DBT, MANBA, MAN2B1, SUCLG1, ALDH4A1, SLC25A15, CBS, GBE1, GALE, GLYCTK, ASS1, CYP27A1, MGAT2, BBS9, SOX2, CLN3, PPOX, KIF21A, SLC6A8, MTFMT, PDHX, HPD, TSHR, FGFR3, AR, ARX, GBA, CDKL5, CHD7, DHCR7, DMD, FOXG1, IDS, KRAS, MEF2C, NPC1, NPC2, PCDH19, PLP1, PTPN11, RAI1, SLC2A1, TINF2, WDR62, FGFR2, HDAC8, TSC2, SYNGAP1, SMC1A, TSC1, NIPBL, ATM, NBN, CDKN1C, BRIP1, PRKAR1A, FKTN, PEX7, SGCA, SLC7A7, SACS, TH, MCOLN1, POMGNT1, PLA2G6, RAPSN, DPYD, TMEM216, MPZ, SPTLC1, ATL1, ZFYVE26, SCN1A, MAPT, AHI1, FKRP, NF1, FGFR1, KCNJ11, POU1F1, GHR, AVPR2, KIF5A, L1CAM, KIF1A, BIN1, DYNC1H1, POMT2, POMT1, SYT14, SIL1, GRM1, FGF14, LAMA2, LARGE1, ITGA7, MCPH1, ASPM, ATP1A2, CPA6, KCTD7, PRICKLE1, GRIN2B, KCNQ2, CHRNA4, GABRG2, GRIN2A, MBD5, TBC1D24, PIGO, PQBP1, TUBA8, PAFAH1B1, SRPX2, TUBB2B, MFSD8, ATP13A2, ST3GAL3, SCN8A, NRXN1, GRIN1, DYRK1A, PIGV, SPTAN1, SAMHD1, KCNJ10, CNTNAP2, OFD1, SMS, ATRX, IQSEC2, FGD1, SYP, GRIA3, PAK3, KDM5C, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, ZEB2, VPS13B, GFAP, TBX1, LBR, SHANK3, SHANK2, ERCC2, ERCC3, SOX10, KIRREL3, FOXP1, EHMT1, AP1S2, ARID1B, CTNNB1, NLGN3, CANT1, PHF8, IGBP1, HUWE1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RAB40AL, ZDHHC9, BRWD3, SLC16A2, SOX3, NSDHL, ARHGEF6, IL1RAPL1, TWIST1, NSUN2, TGIF1, ZIC2, PCNT, NAGA, FBN2, ABCC6, GNPTG, GLI3, GAN, LYST, SLC4A4, SDCCAG8, ERCC6, SMARCA4, SMARCB1, ARID1A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, KIF11, PGK1, LHX3, THRB, ALX4, EFNB1, GNPAT, CTC1, NHP2, GNAS, FANCG, ABCG5, SLX4, CP, SATB2, SLC6A4, RPGRIP1L, KIF7, CEP41, RBBP8, MYCN, VLDLR, ALG11, COG5, TMEM165, SLC46A1, TPK1, SLC20A2, MAT1A, APOB, SLC2A2, RFX6, DHCR24, MYO5A, INSR, ERCC8, STX11, G6PC3, NHEJ1, LIG4, STAT5B, GSS, TTC37, PIGL, HEPACAM, ZFP57, PDE4D, CCDC88C, MED17, CRADD, CACNG2, TECR, MED23, SOBP, CDH15, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, ORC1, WRN, SLC5A5, TBCE, ACY1, CAMTA1, ERCC5, UROC1, WDR81, BUB1B, AP1S1, AVP, NGF, HOXD10, FAM126A, TRHR, SLC5A2, GLRA1, IGF1, HDAC4, MRAP, IGF1R, AGT, IRX5, TMCO1, ZBTB16, FTO, CEP57, UPB1, KCNK9, DIP2B, GLUL, ZBTB24, SNIP1, XIST, AFP, TPH2, AQP7 Specificity 1 % Genes 100 %
MODY Neonatal Diabetes NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. HNF1A, NEUROD1, HNF1B, WFS1, GCK, GLUD1, CISD2, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, HADH, SLC2A2, AKT2, RFX6 , (...) View the complete list with 10 more genes Panel GTR000509445 complete gene list HNF1A, NEUROD1, HNF1B, WFS1, GCK, GLUD1, CISD2, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, CP, IER3IP1, HADH, SLC2A2, AKT2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, ZFP57 Specificity 4 % Genes 100 %
SLC2A2. By Fulgent Genetics Fulgent Genetics in United States. SLC2A2 Specificity 100 % Genes 100 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, PDSS2, COQ6, C8orf37, SARS2, FAH, XPNPEP3, CYP24A1, SLC9A3R1, IQCB1, ALG1, COQ2, XDH, CUBN, AGXT, CA2, SLC3A1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LMX1B, PAX2, GSN, APRT, CHD7, CREBBP, DHCR7, GLA, VDR, TSC2, TSC1, GPC3, COL4A3, CTNS, NPHS2, NPHS1, GRHPR, SLC17A5, PKHD1, TMEM216, LMNA, WNK1, APOE, AHI1, ATXN10, FGFR1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, CACNA1H, SCARB2, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CD151, CACNA1D, COL4A6, NLRP3, SIX5, SIX1, GATA3, MYH9, SEMA3E, FOXP1, WDR35, CLCNKA, TNXB, GLI3, KCNJ5, DHTKD1, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ZMPSTE24, MEFV, SALL4, CD2AP, CFI, NR3C2, DGKE, APOL1, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, IFT122, APOA1, GREM1, B9D2, SLC2A2, FGA, VPS33B, VIPAS39, FREM1, BMP4, COQ8B, SLC4A1, ATP6V0A4, ITGA3, ITGB4, TNFRSF1A, SMARCAL1, HOGA1, NOTCH2, TCTN3, C2CD3, IFT74, IFT172, TMEM107, KIF14, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, NEK1, CRB2, ENPP1, CLCN5, SLC34A3, DMP1, SRGAP1, WDR73, B2M, GDNF, MYO1E, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, FXYD2, SLC5A2, SLC5A1, TRPM6, LYZ, CNNM2, EGF, SOX17, ARHGDIA, ROBO2, PBX1, EMP2, PTPRO, ITGA8, KCTD1, FGF20, ANLN, EHHADH, TBX18, AGTR1, UPK3A, TRAP1, SGPL1, XPO5, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, CHD1L, DSTYK, FAN1, FN1, ADCY10, MAGED2, SLC41A1, DACH1, E2F3, DLC1, KIF12, SLIT2, DLG1 Specificity 1 % Genes 100 %
Glycogen Storage Disorder Panel. By Blueprint Genetics in Finland. AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1 , (...) View the complete list with 9 more genes Panel GTR000552816 complete gene list AGL, ALDOA, FBP1, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, PHKA1, PHKB, PGAM2, PFKM, PYGM, GBE1, NHLRC1, EPM2A, LAMP2, PRKAG2, PGK1, SLC2A2, RBCK1, GYG1, PRKAG3 Specificity 4 % Genes 100 %
Comprehensive Monogenic Diabetes Panel. By Blueprint Genetics in Finland. HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11 , (...) View the complete list with 8 more genes Panel GTR000552672 complete gene list HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, NEUROG3, PTF1A, GATA6, EIF2AK3, INSR, ZFP57 Specificity 4 % Genes 100 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3 Specificity 1 % Genes 100 %
Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel. By Blueprint Genetics in Finland. AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA , (...) View the complete list with 30 more genes Panel GTR000552771 complete gene list AGL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, GAA, HNF1A, SLC37A4, SLC16A1, GCK, ACSF3, PHKA2, HMGCL, PYGL, G6PC, PHKG2, PGM1, LDHA, ENO3, GYS1, UCP2, GLUD1, HMGCS2, PHKA1, PHKB, PGAM2, MPV17, OXCT1, PFKM, PYGM, GBE1, ABCC8, KCNJ11, PDX1, HNF4A, NHLRC1, EPM2A, LAMP2, PRKAG2, PGK1, HADH, SLC2A2, PTF1A, INSR, RBCK1, GYG1, PCK1, PRKAG3 Specificity 2 % Genes 100 %
Congenital Mono- and Disaccharide Disorders Panel. By Blueprint Genetics in Finland. ALDOB, GALT, GALE, GALK1, SLC2A1, SLC2A2, SI, LCT, SLC5A1 Specificity 12 % Genes 100 %
Glycogen storage disease due to GLUT2 deficiency. By Bioarray in Spain. SLC2A2 Specificity 100 % Genes 100 %
Monogenic Diabetes NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11 , (...) View the complete list with 6 more genes Panel GTR000559250 complete gene list HNF1A, NEUROD1, PPARG, HNF1B, SLC16A1, WFS1, GCK, UCP2, GLUD1, ABCC8, CEL, KCNJ11, INS, PDX1, HNF4A, FOXP3, HADH, SLC2A2, PAX4, KLF11, BLK, GLIS3, NEUROG3, EIF2AK3, INSR, G6PC2 Specificity 4 % Genes 100 %
SLC2A2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. SLC2A2 Specificity 100 % Genes 100 %
FANCONI - BICKEL SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. SLC2A2 Specificity 100 % Genes 100 %
DIABETES MODY & NEONATAL DIABETES : NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. HNF1A, NEUROD1, HNF1B, GCK, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, EIF2AK3 , (...) View the complete list with 2 more genes Panel GTR000558265 complete gene list HNF1A, NEUROD1, HNF1B, GCK, GLUD1, ABCC8, KCNJ11, INS, PDX1, HNF4A, FOXP3, IER3IP1, SLC2A2, RFX6, PAX4, KLF11, BLK, GLIS3, PTF1A, EIF2AK3, INSR, ZFP57 Specificity 5 % Genes 100 %
Fanconi-Bickel Syndrome, Sequencing SLC2A2 Gene. By Reference Laboratory Genetics in Spain. SLC2A2 Specificity 100 % Genes 100 %
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. HNF1A, NEUROD1, HNF1B, GCK, KCNJ11, PDX1, HNF4A, SLC2A2, PAX4, KLF11, BLK Specificity 10 % Genes 100 %
Glycogen Storage Disease, Panel Massive Sequencing (NGS) 11 Genes. By Reference Laboratory Genetics in Spain. AGL, GYS2, GAA, SLC37A4, PHKA2, PYGL, G6PC, PFKM, PYGM, GBE1, SLC2A2 Specificity 10 % Genes 100 %

Alternate names

Fanconi-bickel Syndrome; Fbs Is also known as hepatorenal glycogenosis with renal fanconi syndrome, hepatic glycogenosis with fanconi nephropathy, hepatic glycogenosis with amino aciduria and glucosuria, fanconi syndrome with intestinal malabsorption and galactose intolerance, pseudo-phlorizin diabetes, glycogenosis, fanconi type, glycogen storage disease xi;bickel-fanconi glycogenosis; fanconi-bickel disease; gsd due to glut2 deficiency; gsd type 11; gsd type xi; glycogen storage disease type 11; glycogen storage disease type xi; glycogenosis due to glut2 deficiency.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RETT SYNDROME, CONGENITAL VARIANT VITAMIN D-DEPENDENT RICKETS, TYPE 2A; VDDR2A MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLD