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Nephrology
CENTOGENE provides genetic testing and consultation for the most efficient diagnosis of inherited kidney-related diseases. Recent advances in genetic techniques provide many important insights into kidney disease diagnosis, classification, pathogenesis, and time-sensitive therapy options. Having identified genetic variants associated with nephrological diseases in more than 300 different genes, we can support you in providing your patients with rapid, effective genetic testing to get a clear understanding of their condition.
Atypical hemolytic uremic syndrome panel
Our atypical hemolytic uremic syndrome panel contains genes for the molecular diagnosis of this syndrome.
| No. of genes: | 20 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included MLPA: CFH, CFHR1, CFHR2, CFHR3, CFHR5 |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ADAMTS13 | 604134 | thrombotic thrombocytopenic purpura | AR |
| C3 | 120700 | atypical hemolytic uremic syndrome 5; C3 deficiency | AD, AR |
| CD46 | 120920 | atypical hemolytic uremic syndrome 2 | AD, AR |
| CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CFB | 138470 | atypical hemolytic uremic syndrome 4 | AD, AR |
| CFH | 134370 | atypical hemolytic uremic syndrome 1; Complement factor H deficiency | AD, AR |
| CFHR1 | 134371 | atypical hemolytic uremic syndrome 1; Macular Degeneration, Age-Related, 1 | AD, AR |
| CFHR2 | 600889 | ||
| CFHR3 | 605336 | atypical hemolytic uremic syndrome 1; Macular Degeneration, Age-Related, 1 | AD, AR |
| CFHR5 | 608593 | Nephropathy due to CFHR5 deficiency | AD |
| CFI | 217030 | Complement factor I deficiency; atypical hemolytic uremic syndrome 3 | AD, AR |
| CR1 | 120620 | resistance to malaria | |
| CR2 | 120650 | Systemic Lupus Erythematosus, Susceptibility To, 9; Immunodeficiency, common variable, 7 | AR |
| DGKE | 601440 | Nephrotic syndrome, type 7 | AR |
| INF2 | 610982 | Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth | AD |
| MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type, digenic type included | AR |
| MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
| PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR |
| PLG | 173350 | Plasminogen deficiency, type I | AR |
| THBD | 188040 | atypical hemolytic uremic syndrome 6 | AD |
COMMON SYNDROMES AND DISORDERS COVERED
Atypical hemolytic uremic syndrome
CentoNephro
Approximately 10% of the population worldwide is affected by chronic kidney diseases. Advances in genetic techniques are providing insights into kidney disease diagnosis, pathogenesis, and therapy. CentoNephro offers a comprehensive tool to screen for the most prominent hereditary kidney disorders, including polycystic kidney disease, Alport syndrome, renal tubular acidosis panel, focal glomerulonephrosis panel, and primary hyperoxaluria, among others. PKD1 analysis is not included in this panel.
| No. of genes: | 375 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB11 | 603201 | progressive familial intrahepatic cholestasis type 2; benign recurrent intrahepatic cholestasis type 2 | AR |
| ABCB4 | 171060 | gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR |
| ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
| ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | |
| AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
| AHI1 | 608894 | Joubert syndrome 3 | AR |
| AIPL1 | 604392 | Leber congenital amaurosis 4 | AD, AR |
| AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
| ALDOB | 612724 | hereditary fructose intolerance | AR |
| ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
| ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
| ANKH | 605145 | Chondrocalcinosis 2; Craniometaphyseal dysplasia | AD |
| ANKS6 | 615370 | nephronophthisis 16 | AR |
| ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, familial, type III | AD |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARHGDIA | 601925 | Nephrotic syndrome, type 8 | AR |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
| ARMC4 | 615408 | primary ciliary dyskinesia, 23 | AR |
| ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
| ATP6V0A4 | 605239 | distal renal tubular acidosis | AR |
| ATP6V1B1 | 192132 | Renal tubular acidosis with deafness | AR |
| ATP8B1 | 602397 | Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, Progressive Familial Intrahepatic, 1; Cholestasis, Benign Recurrent Intrahepatic, 1 | AD, AR |
| ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
| B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
| B9D2 | 611951 | Meckel syndrome 10 | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
| BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
| BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
| BICC1 | 614295 | Renal dysplasia, cystic, susceptibility to | AD |
| BMP1 | 112264 | osteogenesis imperfecta type 13 | AR |
| BMPR1B | 603248 | Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies | AD, AR |
| BSND | 606412 | Bartter Syndrome type 4A | AR |
| C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CABP4 | 608965 | Night blindness, congenital stationary (incomplete), 2B, autosomal recessive | AR |
| CANT1 | 613165 | Desbuquois dysplasia type 1 | AR |
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer | AD |
| CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
| CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC114 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| CCDC151 | 615956 | primary Ciliary dyskinesia type 30 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
| CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
| CCNO | 607752 | primary ciliary dyskinesia type 29 | AR |
| CD2AP | 604241 | Glomerulosclerosis, focal segmental, 3 | |
| CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
| CENPF | 600236 | Stromme syndrome | AR |
| CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
| CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
| CEP164 | 614848 | nephronophthisis 15 | AR |
| CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CEP63 | 614724 | Seckel syndrome 6 | AR |
| CFAP298 | 615494 | primary ciliary dyskinesia type 26 | AR |
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CFC1 | 605194 | Heterotaxy, visceral, 2, autosomal | AD |
| CFTR | 602421 | hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens | AD, AR |
| CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
| CHSY1 | 608183 | AR | |
| CILK1 | 612325 | AD, AR | |
| CLCN5 | 300008 | Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I | XLR |
| CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DiR |
| CLCNKB | 602023 | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic | AR, DiR |
| CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
| CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| CNGA3 | 600053 | Achromatopsia type 2 | AR |
| COL10A1 | 120110 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE | AD |
| COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
| COL4A3 | 120070 | Alport syndrome 3, AD; benign familial hematuria benign familial; Alport syndrome, AR | AD, AR |
| COL4A4 | 120131 | benign familial hematuria benign familial; Alport syndrome, AR | AD, AR |
| COL4A5 | 303630 | Alport syndrome | XLD |
| COL9A3 | 120270 | multiple epiphyseal dysplasia type 3 | AD |
| COMP | 600310 | Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia | AD |
| COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
| COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
| COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
| CRB1 | 604210 | pigmented paravenous chorioretinal atrophy; retinitis pigmentosa type 12; Leber congenital amaurosis type 8 | AD, AR |
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| CRTAP | 605497 | osteogenesis imperfecta type 7 | AR |
| CRX | 602225 | Cone-rod retinal dystrophy-2; Leber congenital amaurosis 7 | AD |
| CSPP1 | 611654 | Joubert syndrome 21 | AR |
| CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
| CUBN | 602997 | megaloblastic anemia 1 | AR |
| CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
| CYP7B1 | 603711 | spastic paraplegia 5A | AR |
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AD, AR |
| DGKE | 601440 | Nephrotic syndrome, type 7 | AR |
| DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DMP1 | 600980 | Hypophosphatemic Rickets, Autosomal Recessive, 1 | AR |
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Ciliary dyskinesia, primary, 25 | AD, AR |
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAH11 | 603339 | primary ciliary dyskinesia type 7, with or without situs inversus | AR |
| DNAH5 | 603335 | primary ciliary dyskinesia type 3, with or without situs inversus | |
| DNAI1 | 604366 | primary ciliary dyskinesia type 1, with or without situs inversus | AR |
| DNAI2 | 605483 | primary ciliary dyskinesia type 9, with or without situs inversus | |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DRC1 | 615288 | primary ciliary dyskinesia, 21 | AR |
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| DYNC2H1 | 603297 | short-rib thoracic dysplasia-3 with or without polydactyly | AR, DiR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| DYNC2I2 | 613363 | Short-rib thoracic dysplasia 11 with or without polydactyly | AR |
| EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
| ESCO2 | 609353 | Roberts syndrome | AR |
| EVC | 604831 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| EVC2 | 607261 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| FAH | 613871 | tyrosinemia type 1 | AR |
| FAS | 134637 | Autoimmune lymphoproliferative syndrome | AD |
| FASLG | 134638 | Lung Cancer; Autoimmune lymphoproliferative syndrome | AD |
| FEZF1 | 613301 | AR | |
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF23 | 605380 | Hypophosphatemic rickets, autosomal dominant | AD, AR |
| FGF8 | 600483 | hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome | AD |
| FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
| FLNB | 603381 | Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome | AD, AR |
| FLRT3 | 604808 | AD | |
| FSHB | 136530 | AR | |
| FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
| GDF1 | 602880 | Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 | AD, AR |
| GDF5 | 601146 | Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B | AD, AR |
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GHR | 600946 | familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone | AD, AR |
| GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
| GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
| GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
| GLIS2 | 608539 | nephronophthisis 7 | |
| GNA11 | 139313 | Hypocalciuric hypercalcemia, familial, type ii; Hypocalcemia, autosomal dominant 2 | AD |
| GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
| GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
| GNRH1 | 152760 | hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | hypogonadotropic hypogonadism 7 with or without anosmia | AR |
| GUCY2D | 600179 | Leber congenital amaurosis type 1; cone-rod dystrophy type 6 | AD, AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
| HFE | 613609 | Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 | AD, AR |
| HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
| HNF4A | 600281 | MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| HS6ST1 | 604846 | hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD11B2 | 614232 | apparent mineralocorticoid excess | AR |
| HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
| HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
| HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
| HYLS1 | 610693 | Hydrolethalus syndrome | AR |
| IFITM5 | 614757 | osteogenesis imperfecta type 5 | AD |
| IFT122 | 606045 | Cranioectodermal dysplasia 1 | AR |
| IFT140 | 614620 | Mainzer-Saldino syndrome; retinitis pigmentosa type 80 | AR |
| IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
| IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
| IFT43 | 614068 | Cranioectodermal dysplasia 3 | AR |
| IFT80 | 611177 | AR | |
| IL17RD | 606807 | Hypogonadotropic hypogonadism type 18 with or without anosmia | AD, AR, DiD |
| IMPDH1 | 146690 | Retinitis pigmentosa 10; Leber congenital amaurosis 11 | AD |
| INF2 | 610982 | Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth | AD |
| INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| INPPL1 | 600829 | Opsismodysplasia | AR |
| INVS | 243305 | nephronophthisis 2 | AR |
| IQCB1 | 609237 | Senior-Loken syndrome 5 | AR |
| ITGA3 | 605025 | Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa | AR |
| JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
| KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
| KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
| KCNJ13 | 603208 | AD, AR | |
| KCNJ5 | 600734 | Long QT syndrome 13 | AD |
| KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
| KISS1 | 603286 | hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | Precocious puberty, central, 1; hypogonadotropic hypogonadism 8 with or without anosmia | AD, AR |
| KLHL3 | 605775 | Pseudohypoaldosteronism, type IID | AD, AR |
| LAMB2 | 150325 | Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities | AR |
| LBR | 600024 | Pelger-Huet anomaly; Greenberg skeletal dysplasia | AD, AR |
| LCA5 | 611408 | Leber congenital amaurosis type 5 | AR |
| LCT | 603202 | AR | |
| LEFTY2 | 601877 | ||
| LEP | 164160 | Leptin deficiency | AR |
| LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LIFR | 151443 | Stuve-Wiedemann syndrome | AR |
| LMX1B | 602575 | Nail-patella syndrome | AD |
| LRAT | 604863 | Leber congenital amaurosis 14 | AR |
| LRP5 | 603506 | Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 | AD, AR |
| LRRC6 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAGI2 | 606382 | nephrotic syndrome type 15 | AR |
| MATN3 | 602109 | Epiphyseal dysplasia, multiple, 5 | AD, AR |
| MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
| MERTK | 604705 | Retinitis pigmentosa 38 | AR |
| MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
| MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
| MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
| MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
| MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
| MMP13 | 600108 | Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type | AD, AR |
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP9 | 120361 | Metaphyseal anadysplasia 2 | |
| MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
| MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
| MYH9 | 160775 | Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 | AD |
| MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AD, AR, DiR |
| NEK8 | 609799 | nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 | AR |
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NKX2-5 | 600584 | Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 | AD |
| NKX3-2 | 602183 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NMNAT1 | 608700 | Leber congenital amaurosis 9 | AR |
| NODAL | 601265 | Heterotaxy, visceral, 5, autosomal | AD |
| NOG | 602991 | proximal symphalangism 1A | AD |
| NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
| NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
| NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
| NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
| NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
| NPHP4 | 607215 | nephronophthisis 4 | AR |
| NPHS1 | 602716 | nephrotic syndrome type 1 | AR |
| NPHS2 | 604766 | nephrotic syndrome type 2 | AR |
| NR0B1 | 300473 | 46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism | XL, XLR |
| NR0B2 | 604630 | OBESITY | AD, AR |
| NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
| NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
| NSMF | 608137 | hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
| OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
| OTX2 | 600037 | Microphthalmia, syndromic 5; Pituitary hormone deficiency, combined, 6 | AD |
| P3H1 | 610339 | osteogenesis imperfecta type 8 | AR |
| PAX2 | 167409 | Papillorenal syndrome | AD |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| PDE6D | 602676 | Joubert syndrome 22 | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
| PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
| PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
| PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
| PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
| PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
| PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
| PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
| PHEX | 300550 | X-linked dominant hypophosphatemic rickets | XLD |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PKD1L1 | 609721 | Visceral heterotaxy type 8 | AR |
| PKD2 | 173910 | polycystic kidney disease type 2 | AD |
| PKHD1 | 606702 | polycystic kidney disease type 4 with or without polycystic liver disease | AR |
| PLCE1 | 608414 | Nephrotic syndrome, type 3 | AR |
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
| PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
| POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
| POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
| POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
| PPIB | 123841 | osteogenesis imperfecta type 9 | AR |
| PRKAR1A | 188830 | Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 | AD |
| PROK2 | 607002 | hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
| PTH1R | 168468 | primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome | AD, AR |
| RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
| RD3 | 180040 | Leber congenital amaurosis 12 | AR |
| RDH12 | 608830 | Leber congenital amaurosis type 13 | AD, AR |
| RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
| RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
| RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
| RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
| ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
| RPE65 | 180069 | Leber congenital amaurosis type 2; retinitis pigmentosa type 20 | AD, AR |
| RPGRIP1 | 605446 | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | AR |
| RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
| RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
| RSPH1 | 609314 | primary ciliary dyskinesia, 24 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | |
| RUNX2 | 600211 | Cleidocranial dysplasia | AD |
| SALL1 | 602218 | Townes-Brocks syndrome | AD |
| SALL4 | 607343 | Okihiro syndrome | AD |
| SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
| SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| SCNN1A | 600228 | Pseudohypoaldosteronism, type I | AD, AR |
| SCNN1B | 600760 | Liddle syndrome; Bronchiectasis with or without elevated sweat chloride type 1; Pseudohypoaldosteronism, type I | AD, AR |
| SCNN1G | 600761 | Pseudohypoaldosteronism, type I; Bronchiectasis with or without elevated sweat chloride 3 | AD, AR |
| SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
| SEMA3A | 603961 | hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SERPINA1 | 107400 | alpha-1 antitrypsin deficiency | AR |
| SERPINF1 | 172860 | osteogenesis imperfecta type 6 | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 | AR |
| SLC12A1 | 600839 | Bartter syndrome type 1 | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB | AR |
| SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
| SLC2A2 | 138160 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome | AD, AR |
| SLC34A1 | 182309 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 | AD, AR |
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC35D1 | 610804 | Schneckenbecken dysplasia | AR |
| SLC4A1 | 109270 | Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 | AD, AR |
| SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DiR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
| SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
| SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
| SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
| SOX3 | 313430 | Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked | XL |
| SOX9 | 608160 | campomelic dysplasia | AD |
| SPAG1 | 603395 | Primary Ciliary dyskinesia type 28 | AR |
| SPATA7 | 609868 | Leber congenital amaurosis 3 | |
| SPINT2 | 605124 | AR | |
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| TAC3 | 162330 | hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCTN1 | 609863 | Joubert syndrome 13 | AR |
| TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
| TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
| TFR2 | 604720 | hemochromatosis type 3 | AR |
| TJP2 | 607709 | Hypercholanemia, familial; Cholestasis, progressive familial intrahepatic 4 | AR |
| TMEM138 | 614459 | Joubert syndrome 16 | AR |
| TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
| TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
| TMEM237 | 614423 | Joubert syndrome 14 | AR |
| TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
| TRIP11 | 604505 | Achondrogenesis, type IA | AR |
| TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
| TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
| TRPS1 | 604386 | trichorhinophalangeal syndrome 1 | AD |
| TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
| TSC1 | 605284 | tuberous sclerosis type 1 | AD |
| TSC2 | 191092 | tuberous sclerosis-2 | AD |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
| TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
| TULP1 | 602280 | Retinitis pigmentosa 14 | AR |
| UGT1A1 | 191740 | Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II | AR |
| VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
| VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
| WDR11 | 606417 | hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR19 | 608151 | Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 | AR |
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| WDR73 | 616144 | Galloway syndrome | AR |
| WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC | AD, AR |
| WNK4 | 601844 | Pseudohypoaldosteronism, type IIB | AD |
| WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
| WNT7A | 601570 | Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency | AR |
| WT1 | 607102 | Frasier syndrome; Mesothelioma, somatic; Wilms tumor, type 1; Denys-Drash syndrome; Nephrotic syndrome, type 4; Meacham syndrome | AD |
| ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
| ZMYND10 | 607070 | primary ciliary dyskinesia, 22 | AR |
| ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
CentoNephro Plus
If polycystic kidney disease is suspected CentoNephro Plus is recommended, which includes all genes of CentoNephro plus PKD1 analysis.
| No. of genes: | 376 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included PDKD1 analysis |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCB11 | 603201 | progressive familial intrahepatic cholestasis type 2; benign recurrent intrahepatic cholestasis type 2 | AR |
| ABCB4 | 171060 | gallbladder disease type 1; progressive familial intrahepatic cholestasis type 3; Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR |
| ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
| ACTN4 | 604638 | Glomerulosclerosis, focal segmental, 1 | AD |
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | |
| AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
| AHI1 | 608894 | Joubert syndrome 3 | AR |
| AIPL1 | 604392 | Leber congenital amaurosis 4 | AD, AR |
| AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
| ALDOB | 612724 | hereditary fructose intolerance | AR |
| ALG8 | 608103 | congenital disorder of glycosylation type 1h | AD, AR |
| ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
| ANKH | 605145 | Chondrocalcinosis 2; Craniometaphyseal dysplasia | AD |
| ANKS6 | 615370 | nephronophthisis 16 | AR |
| ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
| ANOS1 | 300836 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | XLR |
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, familial, type III | AD |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARHGDIA | 601925 | Nephrotic syndrome, type 8 | AR |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
| ARMC4 | 615408 | primary ciliary dyskinesia, 23 | AR |
| ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
| ATP6V0A4 | 605239 | distal renal tubular acidosis | AR |
| ATP6V1B1 | 192132 | Renal tubular acidosis with deafness | AR |
| ATP8B1 | 602397 | Cholestasis, intrahepatic, of pregnancy, 1; Cholestasis, Progressive Familial Intrahepatic, 1; Cholestasis, Benign Recurrent Intrahepatic, 1 | AD, AR |
| ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
| B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
| B9D2 | 611951 | Meckel syndrome 10 | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
| BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
| BCS1L | 603647 | Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; Bjornstad syndrome; GRACILE syndrome | AR, M |
| BICC1 | 614295 | Renal dysplasia, cystic, susceptibility to | AD |
| BMP1 | 112264 | osteogenesis imperfecta type 13 | AR |
| BMPR1B | 603248 | Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies | AD, AR |
| BSND | 606412 | Bartter Syndrome type 4A | AR |
| C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
| CA2 | 611492 | Osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| CABP4 | 608965 | Night blindness, congenital stationary (incomplete), 2B, autosomal recessive | AR |
| CANT1 | 613165 | Desbuquois dysplasia type 1 | AR |
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II; Lymphoma, non-Hodgkin; Gastric Cancer | AD |
| CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
| CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC114 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| CCDC151 | 615956 | primary Ciliary dyskinesia type 30 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
| CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
| CCNO | 607752 | primary ciliary dyskinesia type 29 | AR |
| CD2AP | 604241 | Glomerulosclerosis, focal segmental, 3 | |
| CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
| CENPF | 600236 | Stromme syndrome | AR |
| CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
| CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
| CEP164 | 614848 | nephronophthisis 15 | AR |
| CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CEP63 | 614724 | Seckel syndrome 6 | AR |
| CFAP298 | 615494 | primary ciliary dyskinesia type 26 | AR |
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CFC1 | 605194 | Heterotaxy, visceral, 2, autosomal | AD |
| CFTR | 602421 | hereditary pancreatitis; Bronchiectasis with or without elevated sweat chloride type 1; cystic fibrosis; congenital bilateral absence of vas deferens | AD, AR |
| CHD7 | 608892 | CHARGE syndrome; hypogonadotropic hypogonadism-5 with or without anosmia | AD |
| CHSY1 | 608183 | AR | |
| CILK1 | 612325 | AD, AR | |
| CLCN5 | 300008 | Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I | XLR |
| CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DiR |
| CLCNKB | 602023 | Bartter syndrome, type 3; Bartter syndrome, type 4b, digenic | AR, DiR |
| CLDN16 | 603959 | renal hypomagnesemia type 3 | AR |
| CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| CNGA3 | 600053 | Achromatopsia type 2 | AR |
| COL10A1 | 120110 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE | AD |
| COL4A1 | 120130 | porencephaly 1; Brain small vessel disease with or without ocular anomalies; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Hemorrhage, intracerebral, susceptibility to | AD |
| COL4A3 | 120070 | Alport syndrome 3, AD; benign familial hematuria benign familial; Alport syndrome, AR | AD, AR |
| COL4A4 | 120131 | benign familial hematuria benign familial; Alport syndrome, AR | AD, AR |
| COL4A5 | 303630 | Alport syndrome | XLD |
| COL9A3 | 120270 | multiple epiphyseal dysplasia type 3 | AD |
| COMP | 600310 | Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia | AD |
| COQ2 | 609825 | Multiple system atrophy, susceptibility to; Coenzyme Q10 deficiency, primary, 1 | AD, AR |
| COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
| COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
| CRB1 | 604210 | pigmented paravenous chorioretinal atrophy; retinitis pigmentosa type 12; Leber congenital amaurosis type 8 | AD, AR |
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| CRTAP | 605497 | osteogenesis imperfecta type 7 | AR |
| CRX | 602225 | Cone-rod retinal dystrophy-2; Leber congenital amaurosis 7 | AD |
| CSPP1 | 611654 | Joubert syndrome 21 | AR |
| CTNS | 606272 | ocular nonnephropathic cystinosis; cystinosis; late-onset juvenile or adolescent nephropathic cystinosis | AR |
| CUBN | 602997 | megaloblastic anemia 1 | AR |
| CUL3 | 603136 | Pseudohypoaldosteronism, type IIE | AD |
| CYP7B1 | 603711 | spastic paraplegia 5A | AR |
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AD, AR |
| DGKE | 601440 | Nephrotic syndrome, type 7 | AR |
| DGUOK | 601465 | mitochondrial DNA depletion syndrome 3 | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DMP1 | 600980 | Hypophosphatemic Rickets, Autosomal Recessive, 1 | AR |
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Ciliary dyskinesia, primary, 25 | AD, AR |
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAH11 | 603339 | primary ciliary dyskinesia type 7, with or without situs inversus | AR |
| DNAH5 | 603335 | primary ciliary dyskinesia type 3, with or without situs inversus | |
| DNAI1 | 604366 | primary ciliary dyskinesia type 1, with or without situs inversus | AR |
| DNAI2 | 605483 | primary ciliary dyskinesia type 9, with or without situs inversus | |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DRC1 | 615288 | primary ciliary dyskinesia, 21 | AR |
| DUSP6 | 602748 | Hypogonadotropic hypogonadism 19 with or without anosmia | AD |
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| DYNC2H1 | 603297 | short-rib thoracic dysplasia-3 with or without polydactyly | AR, DiR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| DYNC2I2 | 613363 | Short-rib thoracic dysplasia 11 with or without polydactyly | AR |
| EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
| ESCO2 | 609353 | Roberts syndrome | AR |
| EVC | 604831 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| EVC2 | 607261 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| FAH | 613871 | tyrosinemia type 1 | AR |
| FAS | 134637 | Autoimmune lymphoproliferative syndrome | AD |
| FASLG | 134638 | Lung Cancer; Autoimmune lymphoproliferative syndrome | AD |
| FEZF1 | 613301 | AR | |
| FGF17 | 603725 | Hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| FGF23 | 605380 | Hypophosphatemic rickets, autosomal dominant | AD, AR |
| FGF8 | 600483 | hypogonadotropic hypogonadism 6 with or without anosmia | AD |
| FGFR1 | 136350 | Craniofacial-skeletal-dermatologic dysplasia; Jackson-Weiss syndrome; hypogonadotropic hypogonadism-2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome | AD |
| FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
| FLNB | 603381 | Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome | AD, AR |
| FLRT3 | 604808 | AD | |
| FSHB | 136530 | AR | |
| FXYD2 | 601814 | Hypomagnesemia-2, renal | AD |
| GDF1 | 602880 | Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 | AD, AR |
| GDF5 | 601146 | Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B | AD, AR |
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GHR | 600946 | familial hypercholesterolemia; Laron syndrome; Increased responsiveness to growth hormone | AD, AR |
| GLA | 300644 | Fabry disease; Fabry disease, atypical cardiac variant | XL |
| GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
| GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
| GLIS2 | 608539 | nephronophthisis 7 | |
| GNA11 | 139313 | Hypocalciuric hypercalcemia, familial, type ii; Hypocalcemia, autosomal dominant 2 | AD |
| GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
| GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
| GNRH1 | 152760 | hypogonadotropic hypogonadism 12 with or without anosmia | AR |
| GNRHR | 138850 | hypogonadotropic hypogonadism 7 with or without anosmia | AR |
| GUCY2D | 600179 | Leber congenital amaurosis type 1; cone-rod dystrophy type 6 | AD, AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
| HFE | 613609 | Alzheimer Disease; hepatoerythropoietic porphyria; variegate porphyria; hemochromatosis type 1; susceptibility to microvascular complications of diabetes type 7; Transferrin serum level QTL2 | AD, AR |
| HNF1B | 189907 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; MODY type 5; Renal carcinoma, chromophobe, somatic | AD |
| HNF4A | 600281 | MODY type 1; noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| HS6ST1 | 604846 | hypogonadotropic hypogonadism 15 with or without anosmia | AD |
| HSD11B2 | 614232 | apparent mineralocorticoid excess | AR |
| HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
| HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
| HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
| HYLS1 | 610693 | Hydrolethalus syndrome | AR |
| IFITM5 | 614757 | osteogenesis imperfecta type 5 | AD |
| IFT122 | 606045 | Cranioectodermal dysplasia 1 | AR |
| IFT140 | 614620 | Mainzer-Saldino syndrome; retinitis pigmentosa type 80 | AR |
| IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
| IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
| IFT43 | 614068 | Cranioectodermal dysplasia 3 | AR |
| IFT80 | 611177 | AR | |
| IL17RD | 606807 | Hypogonadotropic hypogonadism type 18 with or without anosmia | AD, AR, DiD |
| IMPDH1 | 146690 | Retinitis pigmentosa 10; Leber congenital amaurosis 11 | AD |
| INF2 | 610982 | Focal Segmental Glomerulosclerosis 5; intermediate type E Charcot-Marie-Tooth | AD |
| INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| INPPL1 | 600829 | Opsismodysplasia | AR |
| INVS | 243305 | nephronophthisis 2 | AR |
| IQCB1 | 609237 | Senior-Loken syndrome 5 | AR |
| ITGA3 | 605025 | Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa | AR |
| JAG1 | 601920 | Alagille syndrome; Tetralogy of Fallot | AD |
| KCNJ1 | 600359 | Bartter syndrome, type 2 | AR |
| KCNJ10 | 602208 | autosomal recessive deafness type 4 with enlarged vestibular aqueduct; Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance | AR |
| KCNJ13 | 603208 | AD, AR | |
| KCNJ5 | 600734 | Long QT syndrome 13 | AD |
| KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
| KISS1 | 603286 | hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| KISS1R | 604161 | Precocious puberty, central, 1; hypogonadotropic hypogonadism 8 with or without anosmia | AD, AR |
| KLHL3 | 605775 | Pseudohypoaldosteronism, type IID | AD, AR |
| LAMB2 | 150325 | Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities | AR |
| LBR | 600024 | Pelger-Huet anomaly; Greenberg skeletal dysplasia | AD, AR |
| LCA5 | 611408 | Leber congenital amaurosis type 5 | AR |
| LCT | 603202 | AR | |
| LEFTY2 | 601877 | ||
| LEP | 164160 | Leptin deficiency | AR |
| LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
| LHB | 152780 | Hypogonadotropic hypogonadism 23 with or without anosmia | AR |
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LIFR | 151443 | Stuve-Wiedemann syndrome | AR |
| LMX1B | 602575 | Nail-patella syndrome | AD |
| LRAT | 604863 | Leber congenital amaurosis 14 | AR |
| LRP5 | 603506 | Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 | AD, AR |
| LRRC6 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAGI2 | 606382 | nephrotic syndrome type 15 | AR |
| MATN3 | 602109 | Epiphyseal dysplasia, multiple, 5 | AD, AR |
| MCEE | 608419 | Methylmalonyl-coa epimerase deficiency | AR |
| MERTK | 604705 | Retinitis pigmentosa 38 | AR |
| MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
| MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
| MMAA | 607481 | methylmalonic aciduria (MMA) of the cblA complementation type | AR |
| MMAB | 607568 | methylmalonic aciduria (MMA) of the cblB complementation type | AR |
| MMADHC | 611935 | methylmalonic aciduria (MMA) of the cblD complementation type | AR |
| MMP13 | 600108 | Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type | AD, AR |
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP9 | 120361 | Metaphyseal anadysplasia 2 | |
| MMUT | 609058 | complete deficiency of methylmalonyl-CoA mutase | AR |
| MPV17 | 137960 | mitochondrial DNA depletion syndrome type 6 | AR |
| MYH9 | 160775 | Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome; deafness type 17 | AD |
| MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome type 2 | AR |
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AD, AR, DiR |
| NEK8 | 609799 | nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 | AR |
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NKX2-5 | 600584 | Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 | AD |
| NKX3-2 | 602183 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NMNAT1 | 608700 | Leber congenital amaurosis 9 | AR |
| NODAL | 601265 | Heterotaxy, visceral, 5, autosomal | AD |
| NOG | 602991 | proximal symphalangism 1A | AD |
| NOTCH2 | 600275 | Hajdu-Cheney syndrome; Alagille syndrome 2 | AD |
| NPC1 | 607623 | Niemann-Pick disease type C/D | AR |
| NPC2 | 601015 | Niemann-Pick disease type C2 | AR |
| NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
| NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
| NPHP4 | 607215 | nephronophthisis 4 | AR |
| NPHS1 | 602716 | nephrotic syndrome type 1 | AR |
| NPHS2 | 604766 | nephrotic syndrome type 2 | AR |
| NR0B1 | 300473 | 46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism | XL, XLR |
| NR0B2 | 604630 | OBESITY | AD, AR |
| NR3C2 | 600983 | Pseudohypoaldosteronism type I, autosomal dominant | AD |
| NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
| NSMF | 608137 | hypogonadotropic hypogonadism 9 with or without anosmia | AD |
| OCRL | 300535 | Dent disease type 2; Lowe oculocerebrorenal syndrome | XLR |
| OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
| OTX2 | 600037 | Microphthalmia, syndromic 5; Pituitary hormone deficiency, combined, 6 | AD |
| P3H1 | 610339 | osteogenesis imperfecta type 8 | AR |
| PAX2 | 167409 | Papillorenal syndrome | AD |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| PDE6D | 602676 | Joubert syndrome 22 | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder type 1A (Zellweger); Heimler syndrome type 1; peroxisome biogenesis disorder type 1B | AR |
| PEX10 | 602859 | peroxisome biogenesis disorder 6A (Zellweger); peroxisome biogenesis disorder 6B | AR |
| PEX12 | 601758 | peroxisome biogenesis disorder type 3B; peroxisome biogenesis disorder type 3A (Zellweger) | AR |
| PEX2 | 170993 | peroxisome biogenesis disorder type 5A (Zellweger); peroxisome biogenesis disorder type 5B | AR |
| PEX26 | 608666 | peroxisome biogenesis disorder type 7A (Zellweger); peroxisome biogenesis disorder 7B | AR |
| PEX5 | 600414 | peroxisome biogenesis disorder 2B (Zellweger); peroxisome biogenesis disorder 2A (Zellweger); Rhizomelic chondrodysplasia punctata, type 5 | AR |
| PEX6 | 601498 | peroxisome biogenesis disorder type 4A (Zellweger); peroxisome biogenesis disorder type 4B; Heimler syndrome type 2 | AD, AR |
| PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
| PHEX | 300550 | X-linked dominant hypophosphatemic rickets | XLD |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PKD1 | 601313 | polycystic kidney disease type 1 | AD |
| PKD1L1 | 609721 | Visceral heterotaxy type 8 | AR |
| PKD2 | 173910 | polycystic kidney disease type 2 | AD |
| PKHD1 | 606702 | polycystic kidney disease type 4 with or without polycystic liver disease | AR |
| PLCE1 | 608414 | Nephrotic syndrome, type 3 | AR |
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
| PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
| POLG | 174763 | progressive external ophthalmoplegia; mitochondrial DNA depletion syndrome type 4A; autosomal recessive progressive external ophthalmoplegia; sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; mitochondrial DNA depletion syndrome type 4B | AD, AR |
| POLR3B | 614366 | hypomyelinating leukodystrophy-8 | AR |
| POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
| PPIB | 123841 | osteogenesis imperfecta type 9 | AR |
| PRKAR1A | 188830 | Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 | AD |
| PROK2 | 607002 | hypogonadotropic hypogonadism 4 with or without anosmia | AD |
| PROKR2 | 607123 | hypogonadotropic hypogonadism 3 with or without anosmia | AD |
| PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
| PTH1R | 168468 | primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome | AD, AR |
| RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
| RD3 | 180040 | Leber congenital amaurosis 12 | AR |
| RDH12 | 608830 | Leber congenital amaurosis type 13 | AD, AR |
| RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
| RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
| RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
| RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
| ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
| RPE65 | 180069 | Leber congenital amaurosis type 2; retinitis pigmentosa type 20 | AD, AR |
| RPGRIP1 | 605446 | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | AR |
| RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
| RRM2B | 604712 | mitochondrial DNA depletion syndrome 8A; progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | AD, AR |
| RSPH1 | 609314 | primary ciliary dyskinesia, 24 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | |
| RUNX2 | 600211 | Cleidocranial dysplasia | AD |
| SALL1 | 602218 | Townes-Brocks syndrome | AD |
| SALL4 | 607343 | Okihiro syndrome | AD |
| SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
| SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| SCNN1A | 600228 | Pseudohypoaldosteronism, type I | AD, AR |
| SCNN1B | 600760 | Liddle syndrome; Bronchiectasis with or without elevated sweat chloride type 1; Pseudohypoaldosteronism, type I | AD, AR |
| SCNN1G | 600761 | Pseudohypoaldosteronism, type I; Bronchiectasis with or without elevated sweat chloride 3 | AD, AR |
| SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
| SEMA3A | 603961 | hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SERPINA1 | 107400 | alpha-1 antitrypsin deficiency | AR |
| SERPINF1 | 172860 | osteogenesis imperfecta type 6 | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 | AR |
| SLC12A1 | 600839 | Bartter syndrome type 1 | AR |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC25A13 | 603859 | Citrullinemia, Type Ii, Adult-Onset; Citrullinemia, type II, neonatal-onset | AR |
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB | AR |
| SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
| SLC2A2 | 138160 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Fanconi-Bickel syndrome | AD, AR |
| SLC34A1 | 182309 | Nephrolithiasis/osteoporosis, hypophosphatemic, 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 | AD, AR |
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC35D1 | 610804 | Schneckenbecken dysplasia | AR |
| SLC4A1 | 109270 | Autosomal dominant distal renal tubular acidosis; resistance to malaria; Renal tubular acidosis, distal, with hemolytic anemia; Spherocytosis, type 4 | AD, AR |
| SLC4A4 | 603345 | Renal tubular acidosis, proximal, with ocular abnormalities | AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DiR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DiR |
| SMPD1 | 607608 | Niemann-Pick disease type A; Niemann-Pick disease type A/B | AR |
| SOX10 | 602229 | PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome, type 4C | AD |
| SOX2 | 184429 | Microphthalmia, Syndromic 3 | AD |
| SOX3 | 313430 | Mental Retardation, X-Linked, With Panhypopituitarism; Panhypopituitarism, X-linked | XL |
| SOX9 | 608160 | campomelic dysplasia | AD |
| SPAG1 | 603395 | Primary Ciliary dyskinesia type 28 | AR |
| SPATA7 | 609868 | Leber congenital amaurosis 3 | |
| SPINT2 | 605124 | AR | |
| SPRY4 | 607984 | Hypogonadotropic hypogonadism 17 with or without anosmia | AD |
| TAC3 | 162330 | hypogonadotropic hypogonadism 10 with or without anosmia | AR |
| TACR3 | 162332 | hypogonadotropic hypogonadism 11 with or without anosmia | AR |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCTN1 | 609863 | Joubert syndrome 13 | AR |
| TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
| TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
| TFR2 | 604720 | hemochromatosis type 3 | AR |
| TJP2 | 607709 | Hypercholanemia, familial; Cholestasis, progressive familial intrahepatic 4 | AR |
| TMEM138 | 614459 | Joubert syndrome 16 | AR |
| TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
| TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
| TMEM237 | 614423 | Joubert syndrome 14 | AR |
| TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
| TRIP11 | 604505 | Achondrogenesis, type IA | AR |
| TRMU | 610230 | Deafness, Aminoglycoside-Induced; Liver Failure, Infantile, Transient | AR, M |
| TRPC6 | 603652 | Glomerulosclerosis, focal segmental, 2 | AD |
| TRPS1 | 604386 | trichorhinophalangeal syndrome 1 | AD |
| TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
| TSC1 | 605284 | tuberous sclerosis type 1 | AD |
| TSC2 | 191092 | tuberous sclerosis-2 | AD |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
| TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
| TULP1 | 602280 | Retinitis pigmentosa 14 | AR |
| UGT1A1 | 191740 | Gilbert syndrome; Crigler-Najjar syndrome type I; familial transient neonatal hyperbilirubinemia; serum level of Bilirubin, QTL1; Crigler-Najjar syndrome type II | AR |
| VHL | 608537 | Renal carcinoma, chromophobe, somatic; pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2 | AD, AR |
| VIPAS39 | 613401 | Arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
| WDR11 | 606417 | hypogonadotropic hypogonadism 14 with or without anosmia | AD |
| WDR19 | 608151 | Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 | AR |
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| WDR73 | 616144 | Galloway syndrome | AR |
| WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II; Pseudohypoaldosteronism, type IIC | AD, AR |
| WNK4 | 601844 | Pseudohypoaldosteronism, type IIB | AD |
| WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
| WNT7A | 601570 | Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency | AR |
| WT1 | 607102 | Frasier syndrome; Mesothelioma, somatic; Wilms tumor, type 1; Denys-Drash syndrome; Nephrotic syndrome, type 4; Meacham syndrome | AD |
| ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
| ZMYND10 | 607070 | primary ciliary dyskinesia, 22 | AR |
| ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |
COMMON SYNDROMES AND DISORDERS COVERED
Alport syndrome
Bardet-Biedl syndrome
Bartter syndrome
Combined pituitary hormone deficiency
Focal segmental glomerulosclerosis
Heterotaxy syndrome
Hypogonadotropic hypogonadism
Intrahepatic cholestasis
Joubert syndrome
Kallmann syndrome
Leber congenital amaurosis
Meckel syndrome
Nephronophthisis
Nephrotic syndrome
Neonatal mitochondrial hepatopathies
Polycystic kidney disease
Pseudohypoaldosteronism
Primary ciliary dyskinesia
Renal tubular acidosis
Skeletal dysplasia
Skeletal ciliopathy
Ciliopathies panel
Our ciliopathies panel includes a group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet- Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others. If polycystic kidney disease is suspected, CentoNephro Plus is recommended, which includes PKD1 analysis.
| No. of genes: | 194 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | |
| AGPS | 603051 | rhizomelic chondrodysplasia punctata type 3 | AR |
| AHI1 | 608894 | Joubert syndrome 3 | AR |
| ALPL | 171760 | adult hypophosphatasia; infantile hypophosphatasia; childhood-onset hypophosphatasia | AD, AR |
| ANKH | 605145 | Chondrocalcinosis 2; Craniometaphyseal dysplasia | AD |
| ANO5 | 608662 | gnathodiaphyseal dysplasia; limb-girdle muscular dystrophy type 2L | AD, AR |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Bardet-Biedl syndrome type 1; Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | AR, DiR |
| ARMC4 | 615408 | primary ciliary dyskinesia, 23 | AR |
| ARSL | 300180 | Chondrodysplasia punctata, X-linked recessive | XLR |
| ATR | 601215 | Seckel syndrome 1; ?Cutaneous telangiectasia and cancer syndrome, familial | AD, AR |
| B9D1 | 614144 | Meckel Syndrome, Type 9 | AR |
| B9D2 | 611951 | Meckel syndrome 10 | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome type 1 | AR, DiR |
| BBS10 | 610148 | Bardet-Biedl syndrome type 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome type 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome type 2; retinitis pigmentosa type 74 | AR |
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome type 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome type 9 | AR |
| BMP1 | 112264 | osteogenesis imperfecta type 13 | AR |
| BMPR1B | 603248 | Brachydactyly type A2; Chondrodysplasia, Acromesomelic, With Genital Anomalies | AD, AR |
| C8orf37 | 614477 | Cone-rod dystrophy 16; Bardet-Biedl syndrome type 21 | AR |
| CANT1 | 613165 | Desbuquois dysplasia type 1 | AR |
| CASR | 601199 | Hypocalciuric hypercalcemia, type I; Hyperparathyroidism, neonatal; Hypocalcemia, autosomal dominant, with Bartter syndrome; Epilepsy idiopathic generalized, susceptibility to, 8 | AD, AR |
| CC2D2A | 612013 | COACH syndrome; Meckel syndrome 6; Joubert syndrome 9 | AR |
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC114 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| CCDC151 | 615956 | primary Ciliary dyskinesia type 30 | AR |
| CCDC28B | 610162 | Bardet-Biedl syndrome type 1 | AR, DiR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | |
| CCDC65 | 611088 | Ciliary dyskinesia, primary, 27 | AR |
| CCNO | 607752 | primary ciliary dyskinesia type 29 | AR |
| CDKN1C | 600856 | Beckwith-Wiedemann syndrome; IMAGE syndrome | AD |
| CENPF | 600236 | Stromme syndrome | AR |
| CENPJ | 609279 | primary microcephaly 6; Seckel syndrome 4 | AR |
| CEP152 | 613529 | Seckel syndrome 5; primary microcephaly 9 | AR |
| CEP164 | 614848 | nephronophthisis 15 | AR |
| CEP290 | 610142 | Joubert syndrome type 5; Senior-Loken syndrome type 6; Meckel syndrome type 4; Leber congenital amaurosis type 10; Bardet-Biedl syndrome type 14 | AR |
| CEP41 | 610523 | Joubert syndrome 15 | AR |
| CEP63 | 614724 | Seckel syndrome 6 | AR |
| CFAP298 | 615494 | primary ciliary dyskinesia type 26 | AR |
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CFC1 | 605194 | Heterotaxy, visceral, 2, autosomal | AD |
| CHSY1 | 608183 | AR | |
| CILK1 | 612325 | AD, AR | |
| CLCN5 | 300008 | Dent disease; Hypophosphatemic rickets; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis; Nephrolithiasis, type I | XLR |
| COL10A1 | 120110 | METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE | AD |
| COL9A3 | 120270 | multiple epiphyseal dysplasia type 3 | AD |
| COMP | 600310 | Epiphyseal Dysplasia, Multiple, 1; Pseudoachondroplasia | AD |
| CPLANE1 | 614571 | oral-facial-digital syndrome 6; Joubert syndrome 17 | AR |
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| CRTAP | 605497 | osteogenesis imperfecta type 7 | AR |
| CSPP1 | 611654 | Joubert syndrome 21 | AR |
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AD, AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DMP1 | 600980 | Hypophosphatemic Rickets, Autosomal Recessive, 1 | AR |
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Ciliary dyskinesia, primary, 25 | AD, AR |
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAH11 | 603339 | primary ciliary dyskinesia type 7, with or without situs inversus | AR |
| DNAH5 | 603335 | primary ciliary dyskinesia type 3, with or without situs inversus | |
| DNAI1 | 604366 | primary ciliary dyskinesia type 1, with or without situs inversus | AR |
| DNAI2 | 605483 | primary ciliary dyskinesia type 9, with or without situs inversus | |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DRC1 | 615288 | primary ciliary dyskinesia, 21 | AR |
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| DYNC2H1 | 603297 | short-rib thoracic dysplasia-3 with or without polydactyly | AR, DiR |
| DYNC2I1 | 615462 | Short-rib thoracic dysplasia 8 with or without polydactyly | AR |
| DYNC2I2 | 613363 | Short-rib thoracic dysplasia 11 with or without polydactyly | AR |
| EBP | 300205 | MEND syndrome; Chondrodysplasia punctata, X-linked dominant | XLD, XLR |
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| ENPP1 | 173335 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; Arterial calcification, generalized, of infancy, 1; OBESITY; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease | AD, AR |
| ESCO2 | 609353 | Roberts syndrome | AR |
| EVC | 604831 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| EVC2 | 607261 | Weyers acrofacial dysostosis; Ellis-van Creveld syndrome | AD, AR |
| FGF23 | 605380 | Hypophosphatemic rickets, autosomal dominant | AD, AR |
| FKBP10 | 607063 | Bruck syndrome 1; osteogenesis imperfecta type 11 | AR |
| FLNB | 603381 | Atelosteogenesis, type i; Atelosteogenesis, type iii; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome | AD, AR |
| GDF1 | 602880 | Right atrial isomerism; Transposition of the great arteries, dextro-looped 3 | AD, AR |
| GDF5 | 601146 | Brachydactyly type A2; Brachydactyly type C; Grebe type chondrodysplasia; Hunter-Thompson type of acromesomelic dysplasia; Du Pan syndrome; multiple synostoses syndrome type 2; susceptibility to osteoarthritis type 5; brachydactyly type A1; proximal symphalangism type 1B | AD, AR |
| GLI2 | 165230 | holoprosencephaly 9; Culler-Jones syndrome | AD |
| GLI3 | 165240 | Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Preaxial polydactyly type IV; Greig cephalopolysyndactyly syndrome | AD |
| GNAS | 139320 | Pseudohypoparathyroidism Ia; Osseous heteroplasia, progressive; McCune-Albright syndrome, somatic, mosaic; ACTH-independent macronodular adrenal hyperplasia; Pseudohypoparathyroidism type Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism | AD |
| GNPAT | 602744 | rhizomelic chondrodysplasia punctata type 2 | AR |
| HEXA | 606869 | Tay-Sachs disease/ GM2-gangliosidosis | AR |
| HSPG2 | 142461 | Silverman-Handmaker type of dyssegmental dysplasia; Schwartz-Jampel syndrome | AR |
| HYDIN | 610812 | primary ciliary dyskinesia type 5 | AR |
| HYLS1 | 610693 | Hydrolethalus syndrome | AR |
| IFITM5 | 614757 | osteogenesis imperfecta type 5 | AD |
| IFT122 | 606045 | Cranioectodermal dysplasia 1 | AR |
| IFT140 | 614620 | Mainzer-Saldino syndrome; retinitis pigmentosa type 80 | AR |
| IFT172 | 607386 | Short-rib thoracic dysplasia 10 with or without polydactyly | AR |
| IFT27 | 615870 | Bardet-Biedl syndrome 19 | AR |
| IFT43 | 614068 | Cranioectodermal dysplasia 3 | AR |
| IFT80 | 611177 | AR | |
| INPP5E | 613037 | Joubert syndrome 1; Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| INPPL1 | 600829 | Opsismodysplasia | AR |
| KIF7 | 611254 | Acrocallosal syndrome; Joubert syndrome 12; Hydrolethalus syndrome 2 | AR |
| LBR | 600024 | Pelger-Huet anomaly; Greenberg skeletal dysplasia | AD, AR |
| LEFTY2 | 601877 | ||
| LEP | 164160 | Leptin deficiency | AR |
| LEPR | 601007 | Morbid obesity due to leptin receptor deficiency | AR |
| LIFR | 151443 | Stuve-Wiedemann syndrome | AR |
| LRP5 | 603506 | Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus; OSTEOPOROSIS; Osteoporosis-pseudoglioma syndrome; Exudative vitreoretinopathy 4; Bone Mineral Density Quantitative Trait Locus 1; autosomal dominant osteopetrosis type 1; van Buchem disease, type 2 | AD, AR |
| LRRC6 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MATN3 | 602109 | Epiphyseal dysplasia, multiple, 5 | AD, AR |
| MKKS | 604896 | McKusick-Kaufman syndrome; Bardet-Biedl syndrome type 6 | AR |
| MKS1 | 609883 | Meckel syndrome type 1; Bardet-Biedl syndrome type 13; Joubert syndrome type 28 | AR |
| MMP13 | 600108 | Metaphyseal dysplasia, Spahr type; Spondyloepimetaphyseal dysplasia, Missouri type | AD, AR |
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP9 | 120361 | Metaphyseal anadysplasia 2 | |
| MYO7A | 276903 | Usher syndrome type 1B; deafness type 2; autosomal dominant deafness type 11 | AD, AR |
| NEK1 | 604588 | Short-rib thoracic dysplasia 6 with or without polydactyly | AD, AR, DiR |
| NEK8 | 609799 | nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 | AR |
| NKX2-5 | 600584 | Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects; Tetralogy of Fallot; Conotruncal Heart Malformations; Hypothyroidism, Congenital, Nongoitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 | AD |
| NKX3-2 | 602183 | Spondylo-megaepiphyseal-metaphyseal dysplasia | AR |
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NODAL | 601265 | Heterotaxy, visceral, 5, autosomal | AD |
| NOG | 602991 | proximal symphalangism 1A | AD |
| NPHP1 | 607100 | nephronophthisis 1; Joubert syndrome 4 | AR |
| NPHP3 | 608002 | Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7; nephronophthisis 3 | AR |
| NR0B2 | 604630 | OBESITY | AD, AR |
| NSDHL | 300275 | CK syndrome; CHILD syndrome | XLD, XLR |
| OFD1 | 300170 | Simpson-Golabi-Behmel syndrome type 2; Retinitis pigmentosa 23; Joubert syndrome 10; oral-facial-digital syndrome 1 | XLD, XLR |
| P3H1 | 610339 | osteogenesis imperfecta type 8 | AR |
| PDE6D | 602676 | Joubert syndrome 22 | AR |
| PEX7 | 601757 | Rhizomelic chondrodysplasia punctata type 1; peroxisome biogenesis disorder type 9B (Zellweger) | AR |
| PHEX | 300550 | X-linked dominant hypophosphatemic rickets | XLD |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PKD1L1 | 609721 | Visceral heterotaxy type 8 | AR |
| PKD2 | 173910 | polycystic kidney disease type 2 | AD |
| PKHD1 | 606702 | polycystic kidney disease type 4 with or without polycystic liver disease | AR |
| PLOD2 | 601865 | Bruck syndrome 2 | AR |
| PMM2 | 601785 | congenital disorder of glycosylation type 1a | AR |
| PNPLA6 | 603197 | Boucher-Neuhauser syndrome; spastic paraplegia 39 | AR |
| POMC | 176830 | OBESITY; Proopiomelanocortin Deficiency | AD, AR |
| PPARG | 601487 | noninsulin-dependent diabetes mellitus / Diabetes mellitus type II; OBESITY; Lipodystrophy, familial partial, type 3 | AD, AR |
| PPIB | 123841 | osteogenesis imperfecta type 9 | AR |
| PRKAR1A | 188830 | Acrodysostosis 1 With Or Without Hormone Resistance; Carney complex, type 1; Myxoma, intracardiac; Pigmented nodular adrenocortical disease, primary, 1 | AD |
| PROM1 | 604365 | Stargardt disease 4; Macular dystrophy, retinal, 2; Retinitis pigmentosa 41; Cone-rod dystrophy 12 | AD, AR |
| PRPH2 | 179605 | Retinitis punctata albescens; Patterned dystrophy of retinal pigment epithelium (macular dystrophy); Retinitis pigmentosa 7; vitelliform macular dystrophy-3; Choriodal dystrophy, central areolar 2 | AD, AR |
| PTH1R | 168468 | primary failure of tooth eruption; Metaphyseal chondrodysplasia, Murk Jansen type; Chondrodysplasia, Blomstrand type; Eiken syndrome | AD, AR |
| RBBP8 | 604124 | Jawad syndrome / Microcephaly with mental retardation and digital anomalies; Seckel syndrome 2 | AR |
| RDH5 | 601617 | Retinitis punctata albescens | AD, AR |
| RHO | 180380 | Retinitis punctata albescens; Night blindness, congenital stationary, autosomal dominant 1; Retinitis Pigmentosa 4 | AD, AR |
| RLBP1 | 180090 | Retinitis punctata albescens | AD, AR |
| ROR2 | 602337 | Brachydactyly, type B1; Robinow syndrome, autosomal recessive | AD, AR |
| RPGRIP1L | 610937 | COACH syndrome; Joubert syndrome 7; Meckel syndrome type 5 | AR |
| RSPH1 | 609314 | primary ciliary dyskinesia, 24 | AR |
| RSPH4A | 612647 | Ciliary dyskinesia, primary, 11 | |
| RSPH9 | 612648 | Ciliary dyskinesia, primary, 12 | |
| RUNX2 | 600211 | Cleidocranial dysplasia | AD |
| SALL1 | 602218 | Townes-Brocks syndrome | AD |
| SALL4 | 607343 | Okihiro syndrome | AD |
| SBDS | 607444 | Shwachman-Bodian-Diamond syndrome; Aplastic Anemia | AR |
| SDCCAG8 | 613524 | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | AR |
| SERPINF1 | 172860 | osteogenesis imperfecta type 6 | AR |
| SERPINH1 | 600943 | Preterm premature rupture of the membranes, susceptibility to; osteogenesis imperfecta type 10 | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia; multiple epiphyseal dysplasia type 4; Atelosteogenesis type II; Achondrogenesis type IB | AR |
| SLC34A3 | 609826 | Hypophosphatemic rickets with hypercalciuria | AR |
| SLC35D1 | 610804 | Schneckenbecken dysplasia | AR |
| SOX9 | 608160 | campomelic dysplasia | AD |
| SPAG1 | 603395 | Primary Ciliary dyskinesia type 28 | AR |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCTN1 | 609863 | Joubert syndrome 13 | AR |
| TCTN2 | 613846 | Meckel syndrome 8; Joubert syndrome type 24 | AR |
| TCTN3 | 613847 | oral-facial-digital syndrome 4; Joubert syndrome 18 | AR |
| TMEM138 | 614459 | Joubert syndrome 16 | AR |
| TMEM216 | 613277 | Meckel Syndrome type 2; Joubert syndrome type 2 | AR |
| TMEM231 | 614949 | Joubert syndrome 20; Meckel syndrome, type 11 | AR |
| TMEM237 | 614423 | Joubert syndrome 14 | AR |
| TMEM67 | 609884 | COACH syndrome; Meckel Syndrome, Type 3; Joubert syndrome 6; nephronophthisis 11; Bardet-Biedl syndrome type 14 | AR |
| TNFRSF11B | 602643 | Paget disease of bone 5, juvenile-onset | AR |
| TRIM32 | 602290 | limb-girdle muscular dystrophy type 2H; Bardet-Biedl syndrome 11 | AR |
| TRIP11 | 604505 | Achondrogenesis, type IA | AR |
| TRPS1 | 604386 | trichorhinophalangeal syndrome 1 | AD |
| TRPV4 | 605427 | Brachyolmia type 3; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type; Hereditary motor and sensory neuropathy, type IIc | AD |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly; nephronophthisis 12 | AD, AR |
| TTC8 | 608132 | retinitis pigmentosa type 51; Bardet-Biedl syndrome type 8 | AR |
| WDPCP | 613580 | Bardet-Biedl syndrome 15 | AR |
| WDR19 | 608151 | Short-rib thoracic dysplasia 5 with or without polydactyly; nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 | AR |
| WDR35 | 613602 | Cranioectodermal dysplasia 2 | AR |
| WNT5A | 164975 | Robinow syndrome, autosomal dominant | AD |
| WNT7A | 601570 | Fuhrmann syndrome; Ulna and fibula, absence of, with sever limb deficiency | AR |
| ZIC3 | 300265 | Heterotaxy, visceral, 1, x-linked; Vacterl association, x-linked, with or without hydrocephalus | XLR |
| ZMYND10 | 607070 | primary ciliary dyskinesia, 22 | AR |
| ZNF423 | 604557 | nephronophthisis 14; Joubert syndrome 19 | AD, AR |