GC_14 CAKUT
Last update: 26.01.2026
ACE, ACTG2, AGT, AGTR1, ALDH1A2, ANOS1, BICC1, BMP4, BMP7, BNC2, CCNQ, CDC5L, CENPF, CEP55, CHD1L, CHD7, CHRM3, CHRNA3, CRKL, CTU2, DACH1, DACT1, DCHS1, DHCR7, DSTYK, EXOC3L2, EYA1, FANCB, FAT4, FGF20, FIBP, FOXC1, FRAS1, FREM1, FREM2, GATA2, GATA3, GDNF, GLI3, GPC3, GREB1L, GREM1, GRIP1, HAAO, HNF1B, HOXA13, HPSE2, HS2ST1, ITGA3, ITGA8, JAG1, KDM6A, KIF14, KMT2D, KYNU, LIFR, LMOD1, LRIG2, LRP4, MUC1, MYH11, MYL9, MYLK, MYOCD, NADSYN1, NEK8, NIPBL, NOTCH2, NPHP3, NRIP1, OSR1, PAX2, PBX1, PLVAP, PPP1R12A, PUF60, REN, RET, ROBO1, ROBO2, ROR2, SALL1, SALL4, SDCCAG8, SEC61A1, SHROOM4, SIX1, SIX2, SIX5, SLIT2, SOX17, SPRY1, SRGAP1, STRA6, TBC1D1, TBX18, TBX6, TFAP2A, TMEM260, TNXB, TRAP1, UMOD, UPK3A, VIPAS39, VPS33B, WBP11, WNT4, WNT5A, WT1, ZIC3, ZMYM2
ClinVar P/LP variants (IDs) not covered: EYA1:[4292662]; [3897900] | HOXA13:[1679196] | ZIC3:[3233415]
GC_21 Alport
Last update: 19.01.2026
CD151, COL4A3, COL4A4, COL4A5, COL4A6, COQ6, MYH9, P3H2
ClinVar P/LP variants (IDs) not covered: COL4A4: [3338164]
GC_44 Congenital Myopathy
Last update: 18.01.2026
ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, BIN1, CACNA1S, CCDC78, CFL2, CIAO1, CNTN1, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, COX6A2, DHX16, DNAJB4, DNM2, DOK7, DST, ECEL1, EPG5, FILIP1, FKBP14, FLNC, FXR1, GBE1, GFER, HACD1, HNRNPA2B1, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LETM1, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MLIP, MT-TA, MT-TG, MT-TP, MTM1, MTMR14, MYBPC1, MYBPC3, MYF5, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYMX, MYO18B, MYOD1, MYPN, NEB, NEFL, ORAI1, PAX7, PIEZO2, PPA2, PYROXD1, RFC4, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SLC25A42, SPEG, SPTBN4, SRPK3, STAC3, STIM1, SVIL, TK2, TNNC2, TNNI1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRDN, TRIP4, TTN, UNC45B, VMA21, VWA1, ZC4H2
ClinVar P/LP variants (IDs) not covered: MEGF10:[3767213] | MYBPC3:[3906261]; [3376667] | TK2:[3778875]
GC_45 Renal disesase
Last update: 18.01.2026
Hereditary kidney disease comprises a diverse group of disorders affecting glomerular, tubular, cystic, developmental, complement-mediated, and syndromic pathways. Clinical presentations range from isolated hematuria, proteinuria, nephrolithiasis, nephrocalcinosis, or renal cysts to congenital anomalies of the kidney and urinary tract (CAKUT), chronic kidney disease, and multisystem disorders.
This panel provides broad coverage of the major hereditary kidney diseases, including autosomal dominant and recessive polycystic kidney disease, Alport syndrome, hereditary nephrotic syndrome, nephronophthisis and related ciliopathies, CAKUT, renal tubulopathies, nephrolithiasis and nephrocalcinosis, atypical hemolytic uremic syndrome (aHUS), and selected syndromic renal disorders. Representative genes include PKD1, PKD2, PKHD1, COL4A3, COL4A4, COL4A5, NPHS1, NPHS2, UMOD, HNF1B, PAX2, CLCN5, OCRL, and CFH.
This panel is recommended for patients with suspected hereditary kidney disease when the underlying diagnosis is unclear, the phenotype is atypical, or findings span more than one renal disease category. Because it incorporates genes represented in more targeted renal panels, including those for Alport syndrome, CAKUT, nephrolithiasis/nephrocalcinosis, cystic kidney disease, and tubulopathies, it is particularly suitable as a first-line test for unexplained chronic kidney disease, familial kidney disease, or complex renal presentations.
ABCC6, ACE, ACTB, ACTG2, ACTN4, ADA2, ADAMTS13, ADAMTS9, ADCY10, AGPAT2, AGT, AGTR1, AGXT, AHI1, ALG1, ALG5, ALG8, ALG9, ALMS1, ALPL, AMN, ANKS6, ANLN, ANOS1, AP2S1, APOA1, APOA2, APOA4, APOC2, APOC3, APOE, APOL1, APRT, AQP2, ARHGAP24, ARHG-DIA, ARL13B, ARL6, ARMC9, ATP1A1, ATP6V0A4, ATP6V1B1, ATP7B, AVP, AVPR2, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP4,
BNC2, BRAF, BSND, C3, C8ORF37, CA2, CACNA1D, CACNA1H, CASR, CBL, CC2D2A, CCNQ, CD151, CD2AP, CD46, CDC5L, CDC73, CDKN1C, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CEP89, CFAP47, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR5, CFI, CHD1L, CHD7, CHRM3, CHRNA3, CILK1, CISD2, CLCN2, CLCN5, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, COX10, COX14, CPLANE1, CPT2, CRB2, CREBBP, CRKL, CSPP1, CST3, CTNS, CUBN, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP24A1, CYP27B1, CYP2R1, CYS1, DAAM2, DCDC2, DCHS1, DDX59, DGKE, DHCR7, DHTKD1, DICER1, DLC1, DLG5, DMP1, DNAJB11, DNASE1L3, DSTYK, DYNC2H1, DYNC2I1, DZIP1L, EBP, EGF, EHHADH, EIF2AK3, ELP1, EMP2, ENPP1, ERCC1, EYA1, FAH, FAM20A, FAN1, FANCA, FANCB, FAT1, FAT4, FBN3, FGA, FGF10, FGF20, FGF23, FGFR1, FGFR2, FLCN, FN1, FOXC1, FOXC2, FOXI1, FOXP3, FRAS1, FREM1, FREM2, FXYD2, G6PC1, GALNT3,
GANAB, GATA3, GATM, GCM2, GLA, GLI3, GLIS2, GLIS3, GNA11, GNAS, GON7, GPC3, GPHN, GREB1L, GRHPR, GRIP1, GSN, HAAO, HGD, HNF1A, HNF1B, HNF4A, HOGA1, HOXA13, HPRT1, HPS1, HPSE2, HSD11B2, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA6, ITGA8, ITGB4, ITSN1, ITSN2, JAG1, KANK1, KANK2, KANK4, KANSL1, KAT2B, KAT6B, KCNA1, KCNJ1, KCNJ10, KCNJ16, KCNJ5, KCTD1, KIAA0586, KIAA0753, KIF14, KIF7, KIRREL1, KLHL3, KRAS, KYNU, LAGE3, LAMA5, LAMB2, LCAT, LDHA, LMNA, LMX1B, LPIN1,
LRIG2, LRP2, LRP4, LRP5, LYZ, LZTFL1, LZTR1, MAFB, MAGED2, MAGI2, MAP2K1, MAP2K2, MAPKBP1, MEFV, MKKS, MKS1, MMACHC, MMUT, MNX1, MOCOS, MOCS1, MOCS2, MRE11, MT-TF, MUC1, MVK, MYCN, MYH9, MYO1E, NEK1, NEK8, NF1, NLRP3, NOS1AP, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR0B1, NR3C2, NRAS, NRIP1, NSD1, NSDHL, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, NXF5, OCRL, OFD1, OPLAH, OSGEP, PAX2, PBX1, PCBD1, PDE6D, PDIA6, PDSS1, PDSS2, PEX6, PHEX, PKD1, PKD2, PKHD1, PLCE1, PLG, PMM2, PODXL,
PRDM15, PREPL, PRKCSH, PRODH, PROKR2, PRPS1, PSKH1, PTPN11, PTPRO, PUF60, RAF1, RCAN1, REN, RET, RIT1, RMND1, ROBO1, ROBO2, RPGRIP1L, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RRAGD, RRM2B, SALL1, SALL4, SARS2, SCARB2, SCLT1, SCN4A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SEMA3E, SGPL1, SHOC2, SI, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC36A2, SLC37A4, SLC3A1, SLC41A1, SLC4A1, SLC4A4, SLC5A1, SLC5A2, SLC6A19, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SLX4, SMARCAL1, SMC1A, SOS1, SOS2, SOX17, SOX18, SRCAP, STRADA, STX16, SYNPO, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNS2, TP53RK, TP63, TPRKB, TRAF3IP1, TRAP1, TRAPPC3, TRIM32, TRIM8, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, TULP3, TXNDC15, UMOD, UQCC2, VDR, VHL, VIPAS39, VPS33B, WAS, WDPCP, WDR19, WDR35,
WDR72, WDR73, WFS1, WNK1, WNK4, WNT4, WNT5A, WT1, XDH, XPNPEP3, XPO5, YRDC, ZNF423
ClinVar P/LP variants (IDs) not covered: CEP290:[3774377] | COL4A4:[3338164] |
CYP11B1:[4281641] | DICER1:[3840007] | EYA1:[4292662; 3897900] | GLA:[1678527] | HOXA13:[1679196]
| HPRT1:[4532158] | HPS1:[4077138] | LMX1B:[429204]
GC_55 Nephrolithiasis or nephrocalcinosis
Last update:
ADCY10, AGXT, ALPL, AMMECR1, APRT, ATP6V0A4, ATP6V1B1, ATP7B, BSND, CA2, CASR, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CLPB, CYP24A1, FAM20A, FAM20C, FOXI1, GNA11, GPHN, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, MAGED2, MOCOS, MOCS1, MOCS2, NHERF1, OCRL, OXGR1, PEX6, PHEX, PREPL, PRPS1, RRAGD, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, STRADA, UMOD, VDR, VIPAS39, VPS33B, WDR72, XDH
ClinVar P/LP variants (IDs) not covered: HPRT1:[4532158] | PHEX:[3359149]