- Analytes
- G6PC1
G6PC1
Name: |
glucose-6-phosphatase catalytic subunit 1
|
Symbol: |
G6PC1
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Version of Orphanet: |
2023-06-22 14:14:43
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Synonyms: |
G6PC1
GSD1a
glycogen storage disease type I, von Gierke disease
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XREF(s): | |
Created: |
13 May 2019 - 01:01
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Changed: |
22 Jun 2023 - 16:14
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- Glycogen storage disease type 1a
- Hepatology (gene panel)
- Inherited Kidney Diseases (Gene Panel)
- Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes)
- Nephrogenetics / Nephropathy (gene panel)
- Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
- Tubulopathy (gene panel)
-
Hepatology panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB11 99.86 1 ABCB4 99.71 1 ABCC2 99.94 1 ABCD3 92.70 1 ABCG5 99.96 1 ABCG8 99.95 1 ACADM 96.14 1 ACADVL 100.00 1 ACAT1 99.81 1 ACOX2 99.81 1 ADK 99.78 1 AGL 97.67 1 AGPAT2 100.00 1 AKR1D1 99.91 1 ALAD 99.99 1 ALDOA 100.00 1 ALDOB 100.00 1 ALG8 95.49 1 ALG9 99.73 1 ALMS1 99.90 1 AMACR 100.00 1 ANKS6 100.00 1 AP1S1 99.49 1 ARG1 99.95 1 ASL 99.98 1 ASS1 77.52 1 ATP7B 100.00 1 ATP8B1 99.94 1 BAAT 99.98 1 BCS1L 99.99 1 BSCL2 99.99 1 BTD 100.00 1 CAVIN1 100.00 1 CC2D2A 99.95 1 CCDC115 99.90 1 CFTR 99.45 1 CLDN1 99.99 1 COG6 99.86 1 COG7 99.74 1 CYP21A2 99.91 1 CPT1A 99.98 1 CPT2 99.65 1 CREB3L3 99.98 1 CYP27A1 100.00 1 CYP7A1 99.99 1 CYP7B1 99.82 1 DCDC2 99.96 1 DGUOK 99.93 1 DHCR7 99.97 1 DKC1 99.59 1 DLD 99.89 1 DNAJB11 99.97 1 EHHADH 99.99 1 EIF2AK3 97.43 1 ENO3 100.00 1 EPHX1 99.97 1 EPM2A 99.99 1 ETFA 99.88 1 ETFB 100.00 1 FANCA 99.98 1 FARSA 100.00 1 FARSB 99.64 1 FBP1 100.00 1 FTH1 22.62 1 G6PC1 99.93 1 GAA 100.00 1 GALE 99.90 1 GALK1 100.00 1 GALM 100.00 1 GALT 100.00 1 GANAB 99.97 1 GBA1 96.92 1 GBE1 99.73 1 GFM1 99.95 1 GNAS 100.00 1 GUSB 95.07 1 GYS1 99.98 1 GYS2 99.86 1 HADHA 99.98 1 HAMP 99.99 1 HFE 100.00 1 HJV 99.99 1 HLCS 99.97 1 HNF1B 100.00 1 HSD17B4 99.71 1 HSD3B7 100.00 1 IARS1 99.89 1 IFT140 100.00 1 INVS 99.94 1 IVD 100.00 1 JAG1 100.00 1 KIF12 99.99 1 KRT18 47.42 1 KRT8 71.60 1 LAMP2 98.95 1 LARS1 99.87 1 LDHA 99.94 1 LIPA 99.96 1 LRP5 99.95 1 LSR 99.98 1 MARS1 99.97 1 MCEE 99.90 1 MKS1 99.92 1 MMUT 99.68 1 MPI 99.95 1 MPV17 99.98 1 MVK 99.97 1 MYO5B 100.00 1 NBAS 99.86 1 NEK9 99.99 1 NEU1 99.98 1 NGLY1 99.93 1 NHLRC1 100.00 1 NOTCH2 99.03 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NR1H4 99.49 1 OXCT1 99.82 1 PODXL 99.99 1 PCCA 99.90 1 PCCB 99.97 1 PEX1 98.80 1 PEX10 100.00 1 PEX11B 99.62 1 PEX12 100.00 1 PEX13 99.36 1 PEX14 100.00 1 PEX16 99.94 1 PEX19 99.25 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.85 1 PEX5 99.89 1 PEX6 99.99 1 PEX7 99.72 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKA2 99.92 1 PHKB 99.69 1 PHKG2 99.86 1 PKD1 99.98 1 PKD2 99.91 1 PKHD1 99.95 1 PMM2 99.93 1 PNPLA3 100.00 1 POLG 100.00 1 PPM1F 100.00 1 PRKAG2 99.96 1 PRKCSH 99.99 1 PYGL 99.99 1 PYGM 99.96 1 RBCK1 100.00 1 RINT1 99.99 1 RPGRIP1L 96.35 1 SBDS 99.93 1 SCO1 99.98 1 SEC63 99.84 1 SERPINA1 100.00 1 SLC10A1 99.99 1 SLC10A2 99.99 1 SLC16A1 99.26 1 SLC25A13 99.67 1 SLC25A20 100.00 1 SLC2A2 99.96 1 SLC30A10 99.99 1 SLC51A 100.00 1 SLCO1B1 98.69 1 SLCO1B3 99.85 1 SMPD1 100.00 1 PMP22 99.99 1 STN1 99.88 1 STT3B 99.96 1 TALDO1 100.00 1 TANGO2 99.85 1 TFR2 99.97 1 TJP2 99.99 1 TMEM216 99.98 1 TMEM67 99.69 1 TRMU 100.00 1 SKIC3 99.82 1 TWNK 100.00 1 UGT1A1 99.98 1 UNC45A 100.00 1 UROS 100.00 1 USP53 99.92 1 UTP4 99.91 1 VIPAS39 99.87 1 VPS33B 99.95 1 VPS50 98.35 1 WDR83OS 100.00 1 YARS1 99.29 1 ZFYVE19 99.99 1 -
Metabolic disorders (213 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABAT 100.00 0 No comment ABCD1 99.93 0 No comment ACAT1 97.28 0 No comment ACOX1 100.00 0 No comment AGL 99.98 0 No comment AGPS 100.00 0 No comment AGXT 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH7A1 100.00 0 No comment ALDOA 100.00 0 No comment ALDOB 100.00 0 No comment ALG1 92.65 0 No comment ALG10 100.00 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG14 100.00 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG5 99.99 0 No comment ALG6 100.00 0 No comment ALG8 95.91 0 No comment ALG9 98.65 0 No comment AMACR 99.83 0 No comment AMT 99.94 0 No comment ASPA 100.00 0 No comment ATP6AP1 99.51 0 No comment ATP6V0A2 100.00 0 No comment ATP6V1A 100.00 0 No comment ATP6V1E1 100.00 0 No comment ATP7A 100.00 0 No comment ATP9B 99.97 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALNT1 100.00 0 No comment B4GALT1 100.00 0 No comment B4GALT7 93.23 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BTD 100.00 0 No comment CAD 100.00 0 No comment CCDC115 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHST6 100.00 0 No comment CHSY1 91.67 0 No comment COG1 99.24 0 No comment COG2 100.00 0 No comment COG3 100.00 0 No comment COG4 100.00 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment CRPPA 95.75 0 No comment CTH 100.00 0 No comment D2HGDH 100.00 0 No comment DAD1 100.00 0 No comment DBH 100.00 0 No comment DBT 100.00 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DHDDS 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment ENO3 100.00 0 No comment EOGT 100.00 0 No comment EXT1 100.00 0 No comment EXT2 100.00 0 No comment FANCA 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FUT1 100.00 0 No comment G6PC1 100.00 0 No comment GAA 100.00 0 No comment GABRG2 92.03 0 No comment GALE 100.00 0 No comment GALK1 99.95 0 No comment GALNT3 100.00 0 No comment GALT 100.00 0 No comment GAMT 98.60 0 No comment GANAB 100.00 0 No comment GATM 99.26 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 96.30 0 No comment GCSH 76.04 0 No comment GFPT1 99.98 0 No comment GLDC 96.53 0 No comment GMPPA 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GNMT 100.00 0 No comment GNPAT 100.00 0 No comment GYS1 100.00 0 No comment GYS2 100.00 0 No comment HGD 100.00 0 No comment HLCS 100.00 0 No comment HMGCL 100.00 0 No comment HPRT1 94.60 0 No comment HSD17B4 100.00 0 No comment IVD 100.00 0 No comment LAMP2 100.00 0 No comment LARGE1 100.00 0 No comment LDHA 100.00 0 No comment LFNG 82.55 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAOA 99.95 0 No comment MCCC1 100.00 0 No comment MCCC2 99.99 0 No comment MGAT2 100.00 0 No comment MMAA 100.00 0 No comment MMAB 100.00 0 No comment MMACHC 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPI 100.00 0 No comment MMUT 100.00 0 No comment NANS 100.00 0 No comment NGLY1 99.98 0 No comment NUS1 100.00 0 No comment OAT 100.00 0 No comment OST4 100.00 0 No comment PCCA 100.00 0 No comment PCCB 99.98 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PFKM 100.00 0 No comment PGAM2 100.00 0 No comment PGAP1 100.00 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGM1 100.00 0 No comment PGM2 100.00 0 No comment PGM3 99.99 0 No comment PHGDH 100.00 0 No comment PHKA1 100.00 0 No comment PHKA2 100.00 0 No comment PHKB 100.00 0 No comment PHKG2 100.00 0 No comment PIGA 100.00 0 No comment PIGC 100.00 0 No comment PIGG 100.00 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGV 100.00 0 No comment PIGW 100.00 0 No comment PIGY 100.00 0 No comment PMM2 100.00 0 No comment PNPO 100.00 0 No comment POFUT1 100.00 0 No comment POGLUT1 100.00 0 No comment POMGNT1 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PRKCSH 100.00 0 No comment PSAT1 100.00 0 No comment PYGL 100.00 0 No comment PYGM 100.00 0 No comment RFT1 100.00 0 No comment RPN1 100.00 0 No comment RPN2 100.00 0 No comment RXYLT1 99.84 0 No comment SCP2 100.00 0 No comment SEC23B 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 99.94 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35C1 100.00 0 No comment SLC35D1 99.99 0 No comment SLC39A8 97.00 0 No comment SLC3A1 100.00 0 No comment SLC6A19 100.00 0 No comment SLC6A8 98.78 0 No comment SLC7A9 100.00 0 No comment SPR 96.81 0 No comment SRD5A3 99.42 0 No comment SSR3 100.00 0 No comment SSR4 99.93 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STT3A 100.00 0 No comment STT3B 99.25 0 No comment TMEM165 89.91 0 No comment TMEM199 100.00 0 No comment TRAPPC11 100.00 0 No comment TUSC3 100.00 0 No comment VPS13B 99.25 0 No comment XYLT1 88.83 0 No comment XYLT2 98.70 0 No comment -
Nephropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 99.98 1 ACTG2 99.99 1 ACTN4 100.00 1 ADAMTS13 100.00 1 ADAMTS9 99.94 1 ADCY10 99.77 1 AGXT 100.00 1 AGTR1 99.97 1 AHI1 99.86 1 ALDOB 100.00 1 ALG1 86.66 1 ALG8 95.49 1 ALG9 99.73 1 ALMS1 99.90 1 ALPL 99.88 1 ABCD1 100.00 1 ANKS6 100.00 1 ANLN 99.85 1 ANOS1 99.96 1 AP2S1 99.98 1 APOA1 100.00 1 APOA2 99.84 1 APOL1 99.99 1 APRT 100.00 1 AQP2 100.00 1 ARHGAP24 99.86 1 ARHGDIA 100.00 1 ARL13B 99.53 1 ARL6 99.90 1 ARSA 99.99 1 ATP6V0A4 99.93 1 ATP6V1B1 99.98 1 ATP7B 100.00 1 NLRP3 100.00 1 AVPR2 100.00 1 B9D1 99.80 1 B9D2 99.88 1 BBIP1 99.99 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BICC1 99.76 1 BMP4 100.00 1 BMP7 100.00 1 BSND 99.92 1 C3 100.00 1 C5 99.92 1 CA2 99.62 1 CACNA1S 99.96 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC39 99.74 1 CCNQ 99.98 1 CD151 100.00 1 CD2AP 99.69 1 CD46 99.86 1 CDC5L 99.83 1 CDKN1C 100.00 1 CEP104 99.99 1 CEP120 99.90 1 CEP164 99.99 1 CEP290 98.10 1 CEP41 99.99 1 CEP83 98.68 1 CFAP418 100.00 1 CFB 99.97 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CHD1L 98.53 1 CHD7 99.99 1 CHRM3 100.00 1 CHRNA3 99.95 1 CLCN5 99.67 1 CLCN7 99.99 1 CLCNKA 99.98 1 CLCNKB 99.98 1 CLDN10 99.97 1 CLDN16 99.98 1 CLDN19 99.02 1 CNNM2 99.94 1 COL4A1 99.99 1 COL4A3 99.94 1 COL4A4 99.95 1 COL4A5 99.64 1 COQ2 99.90 1 COQ6 99.94 1 COQ7 100.00 1 COQ8A 100.00 1 COQ8B 99.94 1 COQ9 99.62 1 CPLANE1 99.81 1 CPT2 99.65 1 CRB2 99.95 1 CSPP1 98.31 1 CTNS 100.00 1 CUBN 99.99 1 CUL3 99.76 1 CYP11B2 100.00 1 CYP24A1 100.00 1 DAAM2 99.99 1 DCDC2 99.96 1 DGKE 99.10 1 DMP1 99.99 1 DNAJB11 99.97 1 DSTYK 99.83 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DZIP1L 98.46 1 EGF 99.96 1 EGFR 99.68 1 EHHADH 99.99 1 EMP2 100.00 1 ENPP1 99.88 1 EVC 99.95 1 EVC2 99.97 1 EYA1 99.81 1 FANCA 99.98 1 FAHD2A 100.00 1 FAM186B 99.99 1 FAM20A 100.00 1 FAN1 99.73 1 FAT1 99.99 1 FGA 99.98 1 FGF20 99.71 1 FGF23 100.00 1 FGFR1 100.00 1 FH 99.95 1 FLCN 99.51 1 FN1 99.95 1 FRAS1 99.97 1 FREM1 99.98 1 FREM2 99.97 1 FXYD2 100.00 1 G6PC1 99.93 1 GALNT3 99.52 1 GALT 100.00 1 GANAB 99.97 1 GATA3 99.96 1 GATM 99.92 1 GDNF 99.99 1 GLA 99.90 1 GLI3 100.00 1 GLIS2 100.00 1 GNA11 99.99 1 GON7 99.92 1 GPC3 99.60 1 GRHPR 99.93 1 GRIP1 99.83 1 GSN 99.93 1 HNF1B 100.00 1 HNF4A 100.00 1 HOGA1 100.00 1 HPRT1 97.80 1 HPSE2 100.00 1 HSD11B2 99.99 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT80 99.69 1 IFT81 94.64 1 INCENP 99.99 1 INF2 99.99 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITGA3 99.86 1 ITGA8 99.95 1 ITGB4 99.99 1 JAG1 100.00 1 KANK1 99.99 1 KANK2 99.99 1 KANK4 99.70 1 KCNA1 100.00 1 KCNJ1 100.00 1 KCNJ10 99.98 1 KIAA0586 95.75 1 KIF14 97.80 1 KIF7 100.00 1 KL 99.98 1 KLHL3 99.97 1 LAGE3 99.99 1 LAMB2 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRIG2 97.97 1 LRP2 99.86 1 LRP5 99.95 1 LRP6 99.91 1 LYZ 99.86 1 LZTFL1 100.00 1 MAGED2 99.98 1 MAGI2 99.89 1 MAPKBP1 99.98 1 MET 99.97 1 MKKS 100.00 1 MKS1 99.92 1 MMACHC 99.98 1 MUC1 99.98 1 MYH9 99.95 1 MYO1E 99.94 1 NEIL1 99.99 1 NEK1 99.83 1 NEK9 99.99 1 NOTCH2 99.03 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NPHS1 99.97 1 NPHS2 99.87 1 NR3C2 100.00 1 NUP107 97.46 1 NUP133 99.45 1 NUP205 99.92 1 NUP93 99.87 1 NXF5 96.29 1 OCRL 99.89 1 OFD1 99.68 1 PAX2 99.99 1 PAX8 99.99 1 PBX1 99.88 1 PCBD1 99.84 1 PDE6D 99.94 1 PDSS1 95.70 1 PDSS2 99.87 1 PHEX 99.83 1 PKD1 99.98 1 PKD2 99.91 1 PKHD1 99.95 1 PLCE1 99.98 1 PLG 99.89 1 PMM2 99.93 1 PRKCSH 99.99 1 PSAP 99.94 1 PTEN 99.89 1 PTPRO 99.91 1 PYGM 99.96 1 RBM48 99.09 1 RCOR1 99.97 1 REN 99.85 1 RET 99.97 1 ROBO2 99.80 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RRM2B 99.97 1 SALL1 100.00 1 SALL4 100.00 1 SARS2 99.99 1 SCARB2 99.99 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SDCCAG8 100.00 1 SDHB 97.32 1 SDHD 82.93 1 SEC61A1 99.99 1 SEC63 99.84 1 SGPL1 99.95 1 SIX1 100.00 1 SIX2 100.00 1 SIX5 100.00 1 SLC12A1 99.90 1 SLC12A3 99.84 1 SLC22A12 99.99 1 SLC26A1 100.00 1 SLC26A3 99.97 1 SLC2A2 99.96 1 SLC2A9 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC37A4 99.90 1 SLC3A1 99.98 1 SLC41A1 99.98 1 SLC4A1 99.94 1 SLC4A4 99.97 1 SLC7A9 99.97 1 NHERF1 100.00 1 SMARCAL1 99.97 1 SOX17 100.00 1 SRGAP1 99.68 1 STRADA 99.98 1 STX16 100.00 1 SYNPO 100.00 1 TBC1D1 99.96 1 TBC1D8B 99.31 1 TBX18 99.50 1 TCTN1 99.92 1 TCTN2 99.99 1 TCTN3 99.92 1 THBD 100.00 1 TMEM107 100.00 1 TMEM138 100.00 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM237 99.30 1 TMEM67 99.69 1 TNFRSF25 99.98 1 TNXB 90.86 1 TP53RK 81.09 1 TRAP1 100.00 1 TRIM32 100.00 1 TRPC6 99.99 1 TRPM6 99.93 1 TSC1 99.99 1 TSC2 99.98 1 TTC21B 99.50 1 TTC8 99.67 1 UMOD 99.98 1 UPK3A 100.00 1 UPK3B 99.62 1 VDR 99.86 1 VHL 100.00 1 VIPAS39 99.87 1 VPS33B 99.95 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WDR4 99.95 1 WDR73 99.92 1 WNK1 99.98 1 WNK4 99.98 1 WNT4 99.94 1 WT1 99.99 1 XDH 99.97 1 XPNPEP3 99.99 1 XPO5 99.89 1 YRDC 99.85 1 ZMPSTE24 98.70 1 ZMYM2 99.88 1 ZNF423 98.94 1 -
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTN4 100.00 1 NM_004924.6 AMN 100.00 1 NM_030943.4 ANLN 100.00 1 NM_018685.5 APOA1 100.00 1 NM_000039.3 APOL1 100.00 1 NM_003661.4 ARHGAP24 100.00 1 NM_001025616.3 ARHGDIA 100.00 1 NM_004309.6 AVIL 100.00 1 NM_006576.4 B2M 100.00 1 NM_004048.4 C3 100.00 1 NM_000064.4 CD151 100.00 1 NM_004357.5 CD2AP 100.00 1 NM_012120.3 CLCN5 100.00 1 NM_001127898.4 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 COL4A6 100.00 1 NM_033641.4 COQ2 100.00 1 NM_001358921.2 COQ6 100.00 1 NM_182476.3 COQ8A 100.00 1 NM_020247.5 COQ8B 100.00 1 NM_024876.4 CRB2 100.00 1 NM_173689.7 CUBN 100.00 1 NM_001081.4 DGKE 100.00 1 NM_003647.3 EMP2 100.00 1 NM_001424.6 FGA 100.00 1 NM_021871.4 FN1 100.00 1 NM_212482.4 G6PC1 100.00 1 NM_000151.4 GLA 100.00 1 NM_000169.3 GSN 100.00 1 NM_198252.3 INF2 100.00 1 NM_022489.4 KANK2 100.00 1 NM_001136191.3 LAMB2 100.00 1 NM_002292.4 LMX1B 100.00 1 NM_001174147.2 LRP2 100.00 1 NM_004525.3 LYZ 100.00 1 NM_000239.3 MAGI2 100.00 1 NM_012301.4 MYH9 100.00 1 NM_002473.6 MYO1E 100.00 1 NM_004998.4 NPHS1 100.00 1 NM_004646.4 NPHS2 100.00 1 NM_014625.4 NUP107 100.00 1 NM_020401.4 NUP133 100.00 1 NM_018230.3 NUP160 100.00 1 NM_015231.3 NUP205 100.00 1 NM_015135.3 NUP85 100.00 1 NM_024844.5 NUP93 100.00 1 NM_014669.5 OCRL 100.00 1 NM_000276.4 PAX2 100.00 1 NM_000278.5 PDSS2 100.00 1 NM_020381.4 PLCE1 100.00 1 NM_016341.4 PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976 PTPRO 100.00 1 NM_030667.3 SGPL1 100.00 1 NM_003901.4 SLC35A1 100.00 1 NM_006416.5 TBC1D8B 100.00 1 NM_017752.3 TRPC6 100.00 1 NM_004621.6 TTC21B 100.00 1 NM_024753.5 TTR 100.00 1 NM_000371.4 UMOD 100.00 1 NM_003361.4 WDR73 100.00 1 NM_032856.5 WT1 100.00 1 NM_024426.6 GON7 100.00 1 NM_032490.5 ITGA3 100.00 1 NM_002204.4 KIRREL1 100.00 1 NM_018240.7 LAGE3 100.00 1 NM_006014.5 LAMA5 100.00 1 NM_005560.6 NOS1AP 100.00 1 NM_014697.3 OSGEP 100.00 1 NM_017807.4 PODXL 94.00 1 NM_001018111.3 SARS2 100.00 1 NM_017827.4 SMARCAL1 100.00 1 NM_014140.4 TP53RK 100.00 1 NM_033550.4 TPRKB 100.00 1 NM_016058.5 WDR4 100.00 1 NM_018669.6 XPO5 100.00 1 NM_020750.3 YRDC 100.00 1 NM_024640.4 -
Panel Nephro-ULG-V1
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 97.24 0 , ACTG2 100.00 0 , ACTN4 100.00 0 , ADAMTS13 96.63 0 , ADAMTS9 100.00 0 , ADCY10 100.00 0 , AGT 100.00 0 , AGTR1 100.00 0 , AGXT 100.00 0 , ALDOB 100.00 0 , ALG5 100.00 0 , ALG8 100.00 0 , ALG9 99.28 0 , ALMS1 100.00 0 , ALPL 100.00 0 , AMN 86.23 0 , ANKS6 91.46 0 , ANLN 100.00 0 , ANOS1 94.70 0 , AP2S1 100.00 0 , APOA1 100.00 0 , APOL1 100.00 0 , APRT 100.00 0 , AQP2 100.00 0 , ARHGAP24 99.80 0 , ARHGDIA 100.00 0 , ARL6 100.00 0 , ATP6V0A4 100.00 0 , ATP6V1B1 100.00 0 , ATP7B 100.00 0 , ATXN10 99.92 0 , AVIL 100.00 0 , AVPR2 100.00 0 , B2M 100.00 0 , B9D1 100.00 0 , B9D2 100.00 0 , BBIP1 100.00 0 , BBS1 100.00 0 , BBS10 100.00 0 , BBS12 100.00 0 , BBS2 100.00 0 , BBS4 100.00 0 , BBS5 100.00 0 , BBS7 100.00 0 , BBS9 100.00 0 , BICC1 99.81 0 , BMP4 100.00 0 , BMP7 100.00 0 , BNC2 100.00 0 , BSND 100.00 0 , C3 100.00 0 , CA2 100.00 0 , CASR 100.00 0 , CC2D2A 100.00 0 , CD151 100.00 0 , CD2AP 100.00 0 , CD46 100.00 0 , CDC5L 100.00 0 , CDC73 100.00 0 , CENPF 100.00 0 , CEP164 100.00 0 , CEP290 99.95 0 , CEP41 100.00 0 , CEP55 100.00 0 , CEP83 100.00 0 , CFB 100.00 0 , CFH 100.00 0 , CFHR1 95.06 0 , CFHR3 99.44 0 , CFHR5 100.00 0 , CFI 100.00 0 , CHD1L 99.95 0 , CHD7 100.00 0 , CHRM3 100.00 0 , CHRNA3 99.35 0 , CLCN5 100.00 0 , CLCNKA 100.00 0 , CLCNKB 100.00 0 , CLDN10 100.00 0 , CLDN16 100.00 0 , CLDN19 100.00 0 , CNNM2 99.42 0 , COL4A1 99.52 0 , COL4A3 99.47 0 , COL4A4 100.00 0 , COL4A5 99.90 0 , COL4A6 99.82 0 , COQ2 95.50 0 , COQ6 100.00 0 , COQ8A 100.00 0 , COQ8B 100.00 0 , CRB2 94.59 0 , CSPP1 100.00 0 , CTNS 100.00 0 , CTU2 98.44 0 , CUBN 100.00 0 , CUL3 100.00 0 , CYP24A1 100.00 0 , DAAM2 100.00 0 , DCDC2 100.00 0 , DGKE 100.00 0 , DHCR7 99.99 0 , DIS3L2 100.00 0 , DMP1 100.00 0 , DNAJB11 100.00 0 , DSTYK 100.00 0 , DYNC2H1 99.97 0 , DZIP1L 100.00 0 , EGF 100.00 0 , EGFR 99.63 0 , EHHADH 100.00 0 , EMP2 100.00 0 , EYA1 100.00 0 , FAH 100.00 0 , FAM20A 99.78 0 , CCNQ 82.12 0 , FAN1 100.00 0 , FAT1 100.00 0 , FGA 100.00 0 , FGF20 99.13 0 , FGF23 100.00 0 , FH 100.00 0 , FLCN 100.00 0 , FN1 99.98 0 , FRAS1 100.00 0 , FREM1 100.00 0 , FREM2 100.00 0 , FXYD2 100.00 0 , G6PC1 100.00 0 , GALT 100.00 0 , GANAB 100.00 0 , GATA3 100.00 0 , GATM 100.00 0 , GLA 100.00 0 , GLI3 100.00 0 , GLIS2 100.00 0 , GNA11 99.87 0 , GPC3 99.84 0 , GREB1L 100.00 0 , GRHPR 100.00 0 , GRIP1 100.00 0 , GSN 100.00 0 , HAAO 100.00 0 , HNF1B 100.00 0 , HNF4A 100.00 0 , HOGA1 100.00 0 , HOXA13 71.26 0 , HPRT1 97.10 0 , HPSE2 100.00 0 , HSD11B2 78.40 0 , IFT122 100.00 0 , IFT140 99.96 0 , IFT172 100.00 0 , IFT27 100.00 0 , IFT80 100.00 0 , INF2 99.98 0 , INVS 100.00 0 , IQCB1 100.00 0 , ITGA3 99.70 0 , ITGA8 99.76 0 , JAG1 99.83 0 , KANK1 100.00 0 , KANK2 100.00 0 , KANK4 100.00 0 , KCNA1 100.00 0 , KCNJ1 100.00 0 , KCNJ10 100.00 0 , KCNJ16 100.00 0 , KDM6A 99.90 0 , KL 95.50 0 , KLHL3 100.00 0 , KMT2D 100.00 0 , KYNU 99.98 0 , LAMA5 98.59 0 , LAMB2 100.00 0 , LIFR 100.00 0 , LMX1B 100.00 0 , LRIG2 99.95 0 , LRP2 100.00 0 , LRP4 99.14 0 , LRP5 97.83 0 , LRP6 100.00 0 , LYZ 100.00 0 , LZTFL1 100.00 0 , MAGED2 99.94 0 , MAGI2 93.63 0 , MAPKBP1 100.00 0 , MET 100.00 0 , MKKS 100.00 0 , MKS1 100.00 0 , MMACHC 100.00 0 , MUC1 100.00 0 , MYH9 100.00 0 , MYO1E 100.00 0 , MYOCD 100.00 0 , NADSYN1 100.00 0 , NEK8 100.00 0 , NIPBL 100.00 0 , NOTCH2 100.00 0 , NPHP1 100.00 0 , NPHP3 99.73 0 , NPHP4 100.00 0 , NPHS1 100.00 0 , NPHS2 100.00 0 , NR3C2 100.00 0 , NRIP1 100.00 0 , NUP107 100.00 0 , NUP133 100.00 0 , NUP160 100.00 0 , NUP205 100.00 0 , NUP85 100.00 0 , NUP93 100.00 0 , NXF5 0.00 0 , OCRL 99.96 0 , OFD1 100.00 0 , PAX2 100.00 0 , PBX1 100.00 0 , PCBD1 92.70 0 , PDE6D 100.00 0 , PDSS2 100.00 0 , PHEX 98.98 0 , PKD1 96.86 0 , PKD2 92.32 0 , PKHD1 100.00 0 , PLCE1 100.00 0 , PLG 100.00 0 , PLVAP 100.00 0 , PMM2 100.00 0 , PODXL 90.59 0 , PRKCSH 100.00 0 , PTPRO 100.00 0 , REN 100.00 0 , RET 99.35 0 , ROBO1 100.00 0 , ROBO2 100.00 0 , ROR2 98.01 0 , RPGRIP1L 99.18 0 , RRAGD 99.90 0 , RRM2B 100.00 0 , SALL1 100.00 0 , SARS2 100.00 0 , SCARB2 100.00 0 , SCNN1A 100.00 0 , SCNN1B 100.00 0 , SCNN1G 100.00 0 , SDCCAG8 100.00 0 , SDHB 100.00 0 , SDHD 100.00 0 , SEC61A1 100.00 0 , SEC63 99.95 0 , SGPL1 99.92 0 , SIX1 100.00 0 , SIX2 100.00 0 , SIX5 93.51 0 , SLC12A1 100.00 0 , SLC12A3 100.00 0 , SLC1A1 100.00 0 , SLC22A12 100.00 0 , SLC26A1 100.00 0 , SLC26A3 100.00 0 , SLC2A2 100.00 0 , SLC2A9 100.00 0 , SLC34A1 100.00 0 , SLC34A3 100.00 0 , SLC3A1 100.00 0 , SLC41A1 100.00 0 , SLC4A1 100.00 0 , SLC4A4 100.00 0 , SLC5A2 100.00 0 , SLC6A19 100.00 0 , SLC7A7 100.00 0 , SLC7A9 100.00 0 , NHERF1 100.00 0 , SLIT2 99.95 0 , SMARCAL1 100.00 0 , SOX17 99.26 0 , STRA6 100.00 0 , STX16 100.00 0 , TBC1D1 100.00 0 , TBC1D8B 100.00 0 , TBX18 99.84 0 , TCTN2 100.00 0 , TCTN3 100.00 0 , TFAP2A 100.00 0 , THBD 100.00 0 , TMEM138 100.00 0 , TMEM216 100.00 0 , TMEM231 100.00 0 , TMEM237 100.00 0 , TMEM260 97.92 0 , TMEM67 100.00 0 , TRAP1 95.57 0 , TRIM32 100.00 0 , TRIM8 100.00 0 , TRPC6 100.00 0 , TRPM6 100.00 0 , TSC1 100.00 0 , TSC2 100.00 0 , TTC21B 50.00 0 , TTC8 100.00 0 , TTR 100.00 0 , TULP3 100.00 0 , UMOD 100.00 0 , UPK3A 100.00 0 , VHL 100.00 0 , VIPAS39 100.00 0 , VPS33B 100.00 0 , WBP11 100.00 0 , WDPCP 100.00 0 , WDR19 100.00 0 , WDR35 100.00 0 , WDR73 100.00 0 , WNK1 100.00 0 , WNK4 100.00 0 , WNT4 93.15 0 , WNT5A 88.79 0 , WT1 95.16 0 , XDH 100.00 0 , XPNPEP3 100.00 0 , XPO5 99.80 0 , ZIC3 100.00 0 , ZMYM2 99.97 0 , ZNF423 100.00 0 , -
Tubulopathy/Nephrolithiasis (106 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY10 100.00 1 NM_018417.6 AGXT 100.00 1 NM_000030.3 ALDOB 100.00 1 NM_000035.4 ALPL 100.00 1 NM_000478.6 AP2S1 100.00 1 NM_004069.6 AQP2 100.00 1 NM_000486.6 ATP6V0A4 100.00 1 NM_020632.3 ATP6V1B1 100.00 1 NM_001692.4 ATP7B 100.00 1 NM_000053.4 AVPR2 100.00 1 NM_000054.7 BSND 100.00 1 NM_057176.3 CASR 100.00 1 NM_000388.4 CLCN5 100.00 1 NM_001127898.4 CLCNKB 100.00 1 NM_000085.5 CLDN10 100.00 1 NM_006984.5 CLDN16 100.00 1 NM_006580.4 CLDN19 100.00 1 NM_148960.3 CNNM2 100.00 1 NM_017649.5 CTNS 100.00 1 NM_004937.3 CUL3 100.00 1 NM_003590.5 CYP24A1 100.00 1 NM_000782.5 EGF 100.00 1 NM_001963.6 EGFR 100.00 1 NM_005228.5 EHHADH 100.00 1 NM_001966.4 FAH 100.00 1 NM_000137.4 FAN1 100.00 1 NM_014967.5 FGF23 100.00 1 NM_020638.3 FXYD2 100.00 1 NM_001680.5 G6PC1 100.00 1 NM_000151.4 GALT 100.00 1 NM_000155.4 GATM 100.00 1 NM_001482.3 GNA11 100.00 1 NM_002067.5 GRHPR 100.00 1 NM_012203.2 HNF1B 100.00 1 NM_000458.4 HOGA1 100.00 1 NM_138413.4 HSD11B2 100.00 1 NM_000196.4 KCNJ1 100.00 1 NM_153766.3 KCNJ10 100.00 1 NM_002241.5 KLHL3 100.00 1 NM_017415.3 MAGED2 100.00 1 NM_177433.3 NR3C2 100.00 1 NM_000901.5 OCRL 100.00 1 NM_000276.4 PCBD1 100.00 1 NM_000281.4 PHEX 100.00 1 NM_000444.6 REN 100.00 1 NM_000537.4 SCNN1A 100.00 1 NM_001038.6 SCNN1B 100.00 1 NM_000336.3 SCNN1G 100.00 1 NM_001039.4 SEC61A1 100.00 1 NM_013336.4 SLC12A1 100.00 1 NM_000338.3 SLC12A3 100.00 1 NM_001126108.2 SLC2A2 100.00 1 NM_000340.2 SLC34A1 100.00 1 NM_003052.5 SLC34A3 100.00 1 NM_001177316.2 SLC3A1 100.00 1 NM_000341.4 SLC4A1 100.00 1 NM_000342.4 SLC4A4 100.00 1 NM_001098484.3 SLC5A2 100.00 1 NM_003041.4 SLC7A9 100.00 1 NM_014270.5 NHERF1 100.00 1 NM_004252.5 TRPM6 100.00 1 NM_017662.5 UMOD 100.00 1 NM_003361.4 VDR 100.00 1 NM_000376.3 VIPAS39 100.00 1 NM_001193315.2 VPS33B 100.00 1 NM_018668.5 WNK1 100.00 1 NM_018979.4 WNK4 100.00 1 NM_032387.5 AGTR1 100.00 1 NM_000685.5 APRT 100.00 1 NM_000485.3 CA2 100.00 1 NM_000067.3 CACNA1H 100.00 1 NM_021098.3 CLCN2 100.00 1 NM_004366.6 CLCNKA 100.00 1 NM_004070.4 CYP11B1 100.00 1 NM_000497.4 CYP17A1 100.00 1 NM_000102.4 DMP1 100.00 1 NM_004407.4 ENPP1 100.00 1 NM_006208.3 FANCA 100.00 1 no FAM20A 100.00 1 NM_017565.4 FOXI1 100.00 1 NM_012188.5 HNF1A 100.00 1 NM_000545.8 HNF4A 100.00 1 NM_175914.5 HPRT1 100.00 1 NM_000194.3 KCNJ16 100.00 1 NM_170741.4 KCNJ5 100.00 1 NM_000890.5 KL 100.00 1 NM_004795.4 LAGE3 100.00 1 NM_006014.5 LDHD 100.00 1 NM_194436.3 LRP2 100.00 1 NM_004525.3 MEN1 100.00 1 NM_001370259.2 MOCOS 100.00 1 NM_017947.4 PRPS1 100.00 1 NM_002764.4 SLC16A12 100.00 1 NM_213606.4 SLC22A12 100.00 1 NM_144585.4 SLC2A9 100.00 1 NM_020041.3 SLC36A2 100.00 1 NM_181776.3 SLC5A1 100.00 1 NM_000343.4 SLC6A19 100.00 1 NM_001003841.3 SLC6A20 100.00 1 NM_020208.4 WDR72 100.00 1 NM_182758.4 WFS1 100.00 1 NM_006005.3 XDH 100.00 1 NM_000379.4 AGT 100.00 1 NM_001384479.1 CDC73 100.00 1 NM_024529.5 RRAGD 100.00 1 NM_021244.5 SLC26A1 100.00 1 NM_022042.4 SLC41A1 100.00 1 NM_173854.6