KidneySeq™ v4 – 312 Genes Ciliopathies/tubulointerstitial diseases Disorders of tubular ion transport CAKUT Autosomal dominant tubulo interstitial disease (AD) Cystinosis Branchiooculofacial syndrome AD: HNF1B, REN, UMOD AR: CTNS AD: TFAP2A Bardet-Biedl syndrome (BBS) Cystinuria Branchio-oto-renal syndrome AR: ARL6, BBIP1, BBS2, BBS4, BBS5, BBS7, BBS10, BBS12, C8orf37, AD & AR: SLC3A1, SLC34A1, SLC7A9 AD: EYA1, SIX1, SIX5 CEP290, IFT27, IFT74, LZTFL1, MKKS, PTHB1, SDCCAG8, TRIM32, Dent disease CAKUT with VACTERL TTC8, WDPCP XLR: CLCN5, OCRL AR: TRAP1 AR & DR: BBS1 Familial juvenile hyperuricemic nephropathy – 4 CHARGE syndrome COACH syndrome (JN+) AD: SEC61A1 AD: CHD7, SEMA3E AR: CC2D2A, RPGRIP1L, TMEM67 Fanconi-Bickel syndrome Cogan oculomotor apraxia HANAC syndrome AR: SLC2A2 AR: NPHP1 AD: COL4A1 Fanconi syndrome, generalized proximal defect Common CAKUT Hypokalemic-alkalotic salt-losing nephropathy AD: EHHADH, HNF4A AD: ACTG1, AGTR1, CHD1L, DLG1, DSTYK, ETV4, EYA1, FOXP1, CLDN10 AR: ATP7B, CTNS, FAH, GATM, SLC34A1 GATA3, GDNF, GREB1L, HNF1B, KAT6B, KIF12, KMT2D, NRIP1, Interstitial nephritis, karyomegalic XLR: CLCN5 PAX2, PBX1, RET, ROBO2, SALL1, SIX2, SIX5, SLIT2, SRGAP1, AR: FAN1 Gitelman syndrome TBX18, Jeune syndrome (JN+) AR: CLCNKB, SLC12A3 AR: CTU2, FAT4, HPSE2, TRAP1, TRPS1 AR: IFT80, IFT140, DYNC2H1, NEK1, TTC21B Glucosuria, renal Fraser syndrome Joubert syndrome (JN+) AR & AD: SLC5A1, SLC5A2 AR: FRAS1, FREM1, FREM2, GREM1, GRIP1 AR: AHI1, ARL13B, ARMC9, ATXN10, C2CD3, C5orf42, CC2D2A, Hypoaldosteronism, congenital Genitopatellar syndrome CEP104, CEP290, CEP41, CFAP410, CSPP1, IFT172, INPP5E, AR: CYP11B2 AD: KAT6B KIAA0556, KIF7, NPHP1, OFD1, RPGRIP1L, TCTN1, TCTN3, Hypomagnesemia, renal Hypoparathyroidism, sensorineural deafness, and renal dysplasia TMEM138, TMEM216, TMEM237, TMEM67, TTC21B AD: CNNM2, FXYD2 AD: GATA3 AD & AR: ZNF423 AR: CLDN16, CLDN19, EGF, HNF1B, TRPM6 Isolated renal hypo-dysplasia Juvenile nephronophthisis (JN) Hyperaldosteronism, familial AD: BMP4, DSTYK, HNF1B, PAX2, RET, SALL1, SIX2 AR: AHI1, ANKS6, ATXN10, IQCB1, CEP164, CEP290, CEP83, DCDC2, AD: CACNA1D, CACNA1H, CLCN2, CYP11B1, KCNJ5 AR: DACH1, FGF20, ITGA8, GLIS2, INVS, MAGI2, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, Hyperaldosteronism, glucocorticoid remediable RPGRIP1L, SLC41A1, TMEM67, TTC21B, WDR19, XPNPEP3 Isolated renal hypoplasia: renal adysplasia AD: CYP11B1-CYP11B2 fusion AD &AR: ZNF423 AR: RET, UPK3 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Meckel syndrome (MKS)/Meckel-Gruber syndrome (JN+) Hypogonadotropic hypogonadism with or without anosmia (Kallmann syndrome (HUPRAS) AR: B9D1, B9D2, CC2DA, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, syndrome) AR: SARS2 TCTN2, TMEM107, TMEM216, TMEM237, TMEM67 AD: CHD7, FGFR1 Hypercalciuria XL: ANOS1 Medullary cystic kidney disease 2 AD: ADCY10 AD: UMOD Mayer-Rokitansky-Küster-Hauser syndrome Hyperoxaluria, primary AD: WNT4 Orofaciodigital syndrome 1 AR: AGXT, GRHPR, HOGA1 XLD: OFD1 Multicystic dysplastic kidney Hypertension with hyperkalemia (Gordon's syndrome), AD: CHD1L, HNF1B, ROBO2, SALL1 Polycystic kidney disease, autosomal recessive (ARPKD) Pseudohypoaldosteronism II AR: DZIP1L, PKHD1 Posterior urethral valves AD: CUL3, WNK1, WNK4 AD: CHD1L, HNF1B, ROBO2, SALL1, SIX2 Polycystic kidney disease, autosomal dominant (ADPKD) AR: KLHL3 AD: GANAB, HNF1B, NOTCH2, OFD1, PKD1, PKD2 Renal-Coloboma syndrome Hypocalcemia, autosomal dominant AR: PAX2 Renal cysts and diabetes syndrome AD: CASR AD: HNF1B Renal cysts and diabetes syndrome Hypokalemic-alkalotic salt-losing nephropathy AD: HNF1B Serpentine fibula with polycystic kidney disease (SFPKS)/ Hajdu-Cheney AR: CLCN10 syndrome (HJCYS) Renal fibrosis Hypophosphatemic rickets AD: NOTCH2 AD: PARN AD: FGF23 Sensenbrenner syndrome/Cranioectodermal dysplasia (CED) Renal tubular dysgenesis AR: DMP1, CYP27B1, ENPP1, SLC34A3, VDR AR: IFT122, IFT43, WDR19, WDR35 AR: ACE, AGT, AGTR1, REN XLR: CLCN5, PHEX Senior-Loken syndrome- (JN with retinitis pigmentosa) Townes-Brocks syndrome Hypouricemia, renal AR: CEP290, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, WDR19 AD: SALL1 AD: SLC2A9 Unilateral renal agenesis Disorders of tubular ion transport AR: SLC22A12 AD: DSTYK, HNF1B, RET, SALL1 Adrenal hyperplasia, congenital (11b-OH deficiency) Liddle syndrome (AD) (pseudoprimary hyperaldosteronism) UPJ obstruction AR: CYP11B1 AD: SCNN1B, SCNN1G AD: DSTYK, EYA1, HNF1B, RET, ROBO2, SALL1 Apparent mineralocorticoid excess, syndrome of Nephrogenic diabetes insipidus UVJ obstruction AR: HSD11B2 AD & AR: AQP2 AD: CHD1L, PAX2, SIX5 APRT deficiency (stones and ESRD) XLR: AVPR2 Vesicoureteral reflux AR: APRT Nephrogenic syndrome of inappropriate antidiuresis AD: DSTYK, EYA1, GATA3, HNF1B, RET, ROBO2, SALL1, SOX17, Bartter syndrome XLR: AVPR2 TNXB, UPK3A AD: CaSR Nephrolithiasis/osteoporosis, hypophosphatemic Alagille syndrome AR: BSND, CLCNKA, CLCNKB, KCNJ1, MAGED2, SLC12A1 AD: SLC9A3R1 AD: JAG1, NOTCH2 Disorders of tubular ion transport Glomerular diseases Nephrolithiasis/nephrocalcinosis Pseudohypoaldosteronism I Focal segmental glomerulosclerosis (FSGS) with Duane retraction Nephrolithiasis/osteoporosis, hypophosphatemic AD: NR3C2 syndrome AD: SLC9A3R1 AR: SCNN1A, SCNN1B, SCNN1G AD: MAFB Renal tubular acidosis, distal Renal tubular acidosis, distal Galloway-Mowat syndrome AD & AR: ATP6V0A4, ATP6V1B1, SLC4A1 AD & AR: ATP6V0A4, ATP6V1B1, FOXI1, SLC4A1 AR: NUP133, OSGEP, TP53RK, TPRKB, WDR73 Renal tubular acidosis, proximal Renal tubular acidosis, proximal XLR: LAGE3 AD: EHHADH, HNF4A AD: EHHADH, HNF4A Glomerulopathy with fibronectin deposits AR: CTNS FAH, SLC34A1, SLC4A4 AR: ATP7B, CTNS, FAH, SLC34A1, SLC4A4 AD: FN1 XR: ATP7B, CLCN5 XLR: CLCN5 Infantile sialic acid storage disease Xanthine oxidase deficiency Renal tubular acidosis, type IV AR: SLC17A5 AR: XDH AD: CUL3, KLHL3, NR3C2, WNK1, WNK4 Lipodystrophy, familial, partial Other AR: SCNN1A, SCNN1B, SCNN1G AD: LMNA Arthrogryposis, renal dysfunction Renal tubular acidosis, with osteopetrosis Lipoprotein glomerulopathy AR: VIPAS39, VPS33B AR: CA2 APOE Charcot-Marie Tooth disease (CMTDIE) Renal tubular disease, hypertension related Muckle-Wells syndrome AD: INF2 NEDD4L AD: NLRP3 CHARGE syndrome SESAME syndrome / East syndrome Nail patella syndrome AD: CHD7, SEMA3E AR: KCNJ10 AD: LMX1B Duane-radial ray syndrome (Okihiro syndrome) Glomerular diseases Nephropathy with pretibial epidermolysis bullosa and deafness AD: SALL4 Alport syndrome AR: CD151 Finlay-Marks syndrome AR: COL4A4 Nephrotic syndrome - steroid sensitive AD: KCTD1 AD & AR: COL4A3 PLCG2 Lesch-Nyhan syndrome XLD: COL4A5 Pierson syndrome - nephrotic syndrome with microcoria XLR: HPRT1 XLR: COL4A6 AR: LAMB2 Hypercalcemia, infantile Alstrom syndrome Thin basement membrane disease (benign familial hematuria) AR: CYP24A1 AR: ALMS1 AD: COL4A3, COL4A4 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis Amyloidosis, hereditary Nephrolithiasis/nephrocalcinosis syndrome (HUPRAS) AD: APOA1, B2M, FGA, GSN, LYZ, NLRP3, TNFRSF1A, TTR APRT deficiency (stones and ESRD) AR: SARS2 Congenital lung disease, nephrotic syndrome and mild epidermolysis AR: APRT Mitochondrial cytopathies bullosa Bartter syndrome AR: COQ2 AR: ITGA3 AD: CaSR Pallister-Hall syndrome Congenital nephrotic syndrome (Finnish type) AR: KCNJ1, SLC12A1 AD: GLI3 AR: NPHS1 Cystinuria Rubinstein-Taybi syndrome COQ2 nephropathy AD & AR: SLC3A1, SLC34A1, SLC7A9 AD: CREBBP AR: COQ2 Dent disease Schimke immuno-osseus dysplasia Denys-Drash syndrome; Frasier syndrome XLR: CLCN5, OCRL AR: SMARCAL1 AD: WT1 Fanconi syndrome, generalized proximal defect SERKAL syndrome – 46XX sex reversal with dysgenesis of kidneys, Diffuse mesangial sclerosis AD: EHHADH, HNF4A adrenal and lungs AR: ARHGDIA, PLCE1, WT1 AR: ATP7B, CTNS, FAH, SLC34A1 AR: WNT4 Epstein/Fechtner - renal disease with macrothrombocytopenia XR: CLCN5 SESAME syndrome / East syndrome AD: MYH9 Hypomagnesemia with hypercalciuria AR: KCNJ10 Fabry disease AR: CLDN16, CLDN19 Simpson-Golabi-Behmel syndrome XL: GLA Hypercalcemia, infantile XLR: GPC3 Familial lecithin cholesterol acyltransferase (LCAT) deficiency AR: CYP24A1 Smith-Lemli-Optiz syndrome AR: LCAT Hypercalciuria AR: DHCR7 Familial Mediterranean Fever AD: ADCY10 Tuberous sclerosis AD&AR: MEFV Hyperoxaluria, primary AD: TSC1, TSC2 Focal segmental glomerulosclerosis (FSGS) AD/XL AR: AGXT, GRHPR, HOGA1 von Hippel-Landau syndrome – familial cancer syndrome AD: ACTN4, ANLN, ARHGAP24, CD2AP, CFI, COL4A3, COL4A4, E2F3, Hypocalcemia, autosomal dominant AD: VHL INF2, LMX1B, PAX2, TRPC6, WT1 AD: CASR Williams-Beuren syndrome XL: COL4A5 Hypophosphatemic rickets AD: 7q 11.23 Focal segmental glomerulosclerosis (FSGS) AR AD: FGF23 Xanthine oxidase deficiency AR: APOL1, COQ6, CRB2, ITGB4, LAMA5, MYO1E, NPHP4, NUP133, AR: DMP1, ENPP1, SLC34A3, VDR AR: XDH NUP160, NUP85, TTC21B XLR: CLCN5, PHEX Focal segmental glomerulosclerosis (AR)/SRNS Hypouricemia, renal AR: ADCK4, ALG1, ANKFY1, ARHGDIA, CUBN, DGKE, DHTKD1, DLC1, AD: SLC2A9 EMP2, FAT1, GAPVD1, LAMB2, NPHS1, NPHS2, NUP107, NUP205, AR: SLC22A12 NUP93, PLCE1, PDSS2, PMM2, PTPRO, SCARB2, SGPL1, XPO5, Lesch-Nyhan syndrome ZMPSTE24 XLR: HPRT1