Nephrology & Immunology
| Title | Phenotype | Inheritance |
|---|---|---|
| CD79A | agammaglobulinemia 3 | AR |
| IGLL1 | agammaglobulinemia 2 | AR |
| IGHM | agammaglobulinemia 1 | AR |
| CD79B | agammaglobulinemia 6 | AR |
| PIK3R1 | ?agammaglobulinemia 7, autosomal recessive | AR |
| PIK3R1 | immunodeficiency 36 | AD |
| PIK3R1 | short syndrome | AD |
| BTK | agammaglobulinemia, x-linked 1 | XLR |
| BTK | isolated growth hormone deficiency, type iii, with agammaglobulinemia | XLR |
| SH2D1A | lymphoproliferative syndrome, x-linked, 1 | XLR |
| BLNK | ?agammaglobulinemia 4 | AR |
| LRRC8A | ?agammaglobulinemia 5 | AD |
| Title | Phenotype | Inheritance |
|---|---|---|
| ACTB | ?dystonia, juvenile-onset | AD |
| ACTB | baraitser-winter syndrome 1 | AD |
| AK2 | reticular dysgenesis | AR |
| STAT3 | autoimmune disease, multisystem, infantile-onset, 1 | AD |
| STAT3 | hyper-ige recurrent infection syndrome | AD |
| CD19 | immunodeficiency, common variable, 3 | AR |
| CD59 | hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy | AR |
| IFNGR1 | {tuberculosis infection, protection against} | |
| IFNGR1 | {tuberculosis, susceptibility to} | |
| IFNGR1 | immunodeficiency 27a, mycobacteriosis, ar | AR |
| IFNGR1 | immunodeficiency 27b, mycobacteriosis, ad | AD |
| CD40 | immunodeficiency with hyper-igm, type 3 | AR |
| MS4A1 | immunodeficiency, common variable, 5 | AR |
| CD79A | agammaglobulinemia 3 | AR |
| B2M | ?amyloidosis, familial visceral | AD |
| B2M | immunodeficiency 43 | AR |
| C1QC | c1q deficiency | AR |
| C1S | c1s deficiency | |
| C1S | ehlers-danlos syndrome, periodontal type, 2 | AD |
| C1QA | c1q deficiency | AR |
| CR2 | {systemic lupus erythematosus, susceptibility to, 9} | |
| CR2 | immunodeficiency, common variable, 7 | AR |
| C9 | {macular degeneration, age-related, 15, susceptibility to} | |
| C9 | c9 deficiency | |
| C5 | [eculizumab, poor response to] | AD |
| C5 | c5 deficiency | |
| C1QB | c1q deficiency | AR |
| C3 | {hemolytic uremic syndrome, atypical, susceptibility to, 5} | AD |
| C3 | {macular degeneration, age-related, 9} | |
| C3 | c3 deficiency | AR |
| IL10RB | inflammatory bowel disease 25, early onset, autosomal recessive | AR |
| CD55 | complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | AR |
| C8A | c8 deficiency, type i | AR |
| DHFR | megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
| CTLA4 | {celiac disease, susceptibility to, 3} | |
| CTLA4 | {diabetes mellitus, insulin-dependent, 12} | |
| CTLA4 | {hashimoto thyroiditis} | AD |
| CTLA4 | {systemic lupus erythematosus, susceptibility to} | AD |
| CTLA4 | autoimmune lymphoproliferative syndrome, type v | AD |
| IL10 | {graft-versus-host disease, protection against} | |
| IL10 | {hiv-1, susceptibility to} | |
| IL10 | {rheumatoid arthritis, progression of} | |
| CD46 | {hemolytic uremic syndrome, atypical, susceptibility to, 2} | AD, AR |
| ELANE | neutropenia, cyclic | AD |
| ELANE | neutropenia, severe congenital 1, autosomal dominant | AD |
| CTPS1 | immunodeficiency 24 | AR |
| CFHR1 | {hemolytic uremic syndrome, atypical, susceptibility to} | AD, AR |
| CFD | complement factor d deficiency | AR |
| F13B | factor xiiib deficiency | AR |
| FGA | afibrinogenemia, congenital | AR |
| FGA | amyloidosis, familial visceral | AD |
| FGA | dysfibrinogenemia, congenital | |
| FGA | hypodysfibrinogenemia, congenital | |
| F13A1 | {myocardial infarction, protection against} | |
| F13A1 | {venous thrombosis, protection against} | AD |
| F13A1 | factor xiiia deficiency | AR |
| FGB | afibrinogenemia, congenital | AR |
| FGB | dysfibrinogenemia, congenital | |
| FGB | hypofibrinogenemia, congenital | AR |
| CFH | {hemolytic uremic syndrome, atypical, susceptibility to, 1} | AD, AR |
| CFH | {macular degeneration, age-related, 4} | |
| CFH | basal laminar drusen | AD |
| CFH | complement factor h deficiency | AD, AR |
| ERCC4 | fanconi anemia, complementation group q | AR |
| ERCC4 | xeroderma pigmentosum, group f | AR |
| ERCC4 | xeroderma pigmentosum, type f/cockayne syndrome | AR |
| ERCC4 | xfe progeroid syndrome | AR |
| GP1BB | bernard-soulier syndrome, type b | AR |
| GP1BB | giant platelet disorder, isolated | AR |
| FAS | {autoimmune lymphoproliferative syndrome} | AD |
| FAS | autoimmune lymphoproliferative syndrome, type ia | AD |
| FAS | squamous cell carcinoma, burn scar-related, somatic | |
| CFB | ?complement factor b deficiency | |
| CFB | {hemolytic uremic syndrome, atypical, susceptibility to, 4} | AD |
| CFB | {macular degeneration, age-related, 14, reduced risk of} | |
| CSF2RB | surfactant metabolism dysfunction, pulmonary, 5 | AR |
| CSF3R | neutropenia, severe congenital, 7, autosomal recessive | AR |
| C8B | c8 deficiency, type ii | AR |
| FASLG | {lung cancer, susceptibility to} | AD, SMu |
| FASLG | autoimmune lymphoproliferative syndrome, type ib | AD |
| IL7R | severe combined immunodeficiency, t-cell negative, b-cell/natural killer cell-positive type | AR |
| IGLL1 | agammaglobulinemia 2 | AR |
| IL10RA | inflammatory bowel disease 28, early onset, autosomal recessive | AR |
| IGHM | agammaglobulinemia 1 | AR |
| CD79B | agammaglobulinemia 6 | AR |
| TCF3 | agammaglobulinemia 8, autosomal dominant | AD |
| ISG15 | immunodeficiency 38 | AR |
| GATA2 | {leukemia, acute myeloid, susceptibility to} | AD, SMu |
| GATA2 | {myelodysplastic syndrome, susceptibility to} | |
| GATA2 | emberger syndrome | AD |
| GATA2 | immunodeficiency 21 | AD |
| FCGR3A | immunodeficiency 20 | AR |
| IL2RA | {diabetes, mellitus, insulin-dependent, susceptibility to, 10} | |
| IL2RA | immunodeficiency 41 with lymphoproliferation and autoimmunity | AR |
| IFNGR2 | immunodeficiency 28, mycobacteriosis | AR |
| IL1RN | {gastric cancer risk after h. pylori infection} | AD |
| IL1RN | {microvascular complications of diabetes 4} | |
| IL1RN | interleukin 1 receptor antagonist deficiency | AR |
| INSR | diabetes mellitus, insulin-resistant, with acanthosis nigricans | |
| INSR | hyperinsulinemic hypoglycemia, familial, 5 | AD |
| INSR | leprechaunism | AR |
| INSR | rabson-mendenhall syndrome | AR |
| RPSA | asplenia, isolated congenital | AD |
| RUNX1 | leukemia, acute myeloid | AD, SMu |
| RUNX1 | platelet disorder, familial, with associated myeloid malignancy | AD |
| LCK | ?immunodeficiency 22 | AR |
| PTPRC | {hepatitis c virus, susceptibility to} | |
| PTPRC | severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive | AR |
| MBL2 | {chronic infections, due to mbl deficiency} | AD |
| MYH9 | deafness, autosomal dominant 17 | AD |
| MYH9 | macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD |
| NFKB2 | immunodeficiency, common variable, 10 | AD |
| NFKB1 | immunodeficiency, common variable, 12 | AD |
| NRAS | ?ras-associated autoimmune lymphoproliferative syndrome type iv, somatic | |
| NRAS | noonan syndrome 6 | AD |
| TAP1 | bare lymphocyte syndrome, type i | AR |
| ACP5 | spondyloenchondrodysplasia with immune dysregulation | AR |
| PGM3 | immunodeficiency 23 | AR |
| TAP2 | bare lymphocyte syndrome, type i, due to tap2 deficiency | AR |
| MYO5A | griscelli syndrome, type 1 | AR |
| MTHFD1 | {neural tube defects, folate-sensitive, susceptibility to} | AR |
| MTHFD1 | combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | AR |
| PIK3R1 | ?agammaglobulinemia 7, autosomal recessive | AR |
| PIK3R1 | immunodeficiency 36 | AD |
| PIK3R1 | short syndrome | AD |
| TYK2 | immunodeficiency 35 | AR |
| PROS1 | thrombophilia due to protein s deficiency, autosomal dominant | AD |
| PROS1 | thrombophilia due to protein s deficiency, autosomal recessive | AR |
| PRKCD | autoimmune lymphoproliferative syndrome, type iii | AR |
| PSMB8 | proteasome-associated autoinflammatory syndrome 1 and digenic forms | AR |
| RAG2 | combined cellular and humoral immune defects with granulomas | AR |
| RAG2 | omenn syndrome | AR |
| RAG2 | severe combined immunodeficiency, b cell-negative | AR |
| RAG1 | alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity | |
| RAG1 | combined cellular and humoral immune defects with granulomas | AR |
| RAG1 | omenn syndrome | AR |
| RAG1 | severe combined immunodeficiency, b cell-negative | AR |
| ZAP70 | autoimmune disease, multisystem, infantile-onset, 2 | AR |
| ZAP70 | immunodeficiency 48 | AR |
| CD3D | immunodeficiency 19 | AR |
| CD247 | ?immunodeficiency 25 | AR |
| ITK | lymphoproliferative syndrome 1 | AR |
| CD81 | immunodeficiency, common variable, 6 | AR |
| CD3G | immunodeficiency 17, cd3 gamma deficient | AR |
| CD8A | cd8 deficiency, familial | AR |
| TERT | {pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} | AD |
| CD3E | immunodeficiency 18 | AR |
| CD3E | immunodeficiency 18, scid variant | AR |
| THBD | {hemolytic uremic syndrome, atypical, susceptibility to, 6} | AD |
| TFRC | immunodeficiency 46 | AR |
| KRAS | ras-associated autoimmune leukoproliferative disorder | AD |
| TNFRSF1A | periodic fever, familial | AD |
| UNG | immunodeficiency with hyper igm, type 5 | AR |
| TNFAIP3 | autoinflammatory syndrome, familial, behcet-like | AD |
| CFI | {hemolytic uremic syndrome, atypical, susceptibility to, 3} | AD |
| CFI | {macular degeneration, age-related, 13, susceptibility to} | AD |
| CFI | complement factor i deficiency | AR |
| C7 | c7 deficiency | |
| C6 | c6 deficiency | |
| C6 | combined c6/c7 deficiency | |
| INVS | nephronophthisis 2, infantile | AR |
| MVK | hyper-igd syndrome | AR |
| ATP6AP1 | immunodeficiency 47 | XLR |
| OFD1 | joubert syndrome 10 | XLR |
| BTK | agammaglobulinemia, x-linked 1 | XLR |
| BTK | isolated growth hormone deficiency, type iii, with agammaglobulinemia | XLR |
| CYBB | chronic granulomatous disease, x-linked | XLR |
| CYBB | immunodeficiency 34, mycobacteriosis, x-linked | XLR |
| TAZ | barth syndrome | XLR |
| FOXP3 | immunodysregulation, polyendocrinopathy, and enteropathy, x-linked | XLR |
| SH2D1A | lymphoproliferative syndrome, x-linked, 1 | XLR |
| WAS | neutropenia, severe congenital, x-linked | XLR |
| WAS | thrombocytopenia, x-linked | XLR |
| WAS | thrombocytopenia, x-linked, intermittent | XLR |
| WAS | wiskott-aldrich syndrome | XLR |
| CD40LG | immunodeficiency, x-linked, with hyper-igm | XLR |
| MAGT1 | congenital disorder of glycosylation, type icc | XLR |
| MAGT1 | immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection and neoplasia | XLR |
| F9 | {deep venous thrombosis, protection against} | |
| IL2RG | combined immunodeficiency, x-linked, moderate | XLR |
| IL2RG | severe combined immunodeficiency, x-linked | XLR |
| GATA1 | anemia, x-linked, with/without neutropenia and/or platelet abnormalities | XLR |
| PIGA | paroxysmal nocturnal hemoglobinuria, somatic | |
| MSN | immunodeficiency 50 | XLR |
| CSF2RA | surfactant metabolism dysfunction, pulmonary, 4 | |
| RPGR | retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness | |
| XK | mcleod syndrome with or without chronic granulomatous disease | XL |
| ITGB2 | leukocyte adhesion deficiency | AR |
| JAK3 | scid, autosomal recessive, t-negative/b-positive type | AR |
| PLCG2 | autoinflammation, antibody deficiency, and immune dysregulation syndrome | AD |
| PLCG2 | familial cold autoinflammatory syndrome 3 | AD |
| BRCA2 | wilms tumor | AD, SMu |
| TNFRSF4 | ?immunodeficiency 16 | AR |
| CENPF | stromme syndrome | AR |
| MASP1 | 3mc syndrome 1 | AR |
| STAT2 | immunodeficiency 44 | AR |
| STAT1 | immunodeficiency 31a, mycobacteriosis, autosomal dominant | AD |
| STAT1 | immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive | AR |
| STAT1 | immunodeficiency 31c, autosomal dominant | AD |
| FOXN1 | t-cell immunodeficiency, congenital alopecia, and nail dystrophy | AR |
| MRE11 | ataxia-telangiectasia-like disorder 1 | AR |
| GFI1 | ?neutropenia, nonimmune chronic idiopathic, of adults | AD |
| GFI1 | neutropenia, severe congenital 2, autosomal dominant | AD |
| PRKDC | immunodeficiency 26, with or without neurologic abnormalities | AR |
| CEBPE | specific granule deficiency | AR |
| RANBP2 | {encephalopathy, acute, infection-induced, 3, susceptibility to} | AD |
| MOGS | congenital disorder of glycosylation, type iib | AR |
| NCF4 | ?granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii | AR |
| DGKE | {hemolytic uremic syndrome, atypical, susceptibility to, 7} | AR |
| DGKE | nephrotic syndrome, type 7 | AR |
| IRF8 | immunodeficiency 32a, mycobacteriosis, autosomal dominant | AD |
| IRF8 | immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive | AR |
| IL12RB1 | immunodeficiency 30 | AR |
| HYOU1 | ?immunodeficiency 59 and hypoglycemia | AR |
| SMARCD2 | specific granule deficiency 2 | AR |
| RFXAP | bare lymphocyte syndrome, type ii, complementation group d | AR |
| RFX5 | bare lymphocyte syndrome, type ii, complementation group c | AR |
| RFX5 | bare lymphocyte syndrome, type ii, complementation group e | AR |
| RAC2 | neutrophil immunodeficiency syndrome | |
| RHOH | {?epidermodysplasia verruciformis, susceptibility to, 4} | AR |
| TBX1 | conotruncal anomaly face syndrome | |
| TBX1 | digeorge syndrome | AD |
| TBX1 | tetralogy of fallot | AD |
| TBX1 | velocardiofacial syndrome | AD |
| KMT2D | kabuki syndrome 1 | AD |
| MYD88 | macroglobulinemia, waldenstrom, somatic | |
| MYD88 | pyogenic bacterial infections, recurrent, due to myd88 deficiency | |
| TAPBP | bare lymphocyte syndrome, type i | AR |
| PMM2 | congenital disorder of glycosylation, type ia | AR |
| IFNAR2 | ?immunodeficiency 45 | AR |
| IFNAR2 | {hepatitis b virus, susceptibility to} | |
| LAT | immunodeficiency 52 | AR |
| WIPF1 | ?wiskott-aldrich syndrome 2 | |
| DNASE1L3 | systemic lupus erythematosus 16 | AR |
| FADD | infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
| TERC | dyskeratosis congenita, autosomal dominant 1 | AD |
| MCM4 | immunodeficiency 54 | AR |
| NBN | nijmegen breakage syndrome | AR |
| CFTR | cystic fibrosis | AR |
| CTSC | periodontitis 1, juvenile | AR |
| PIK3CD | immunodeficiency 14 | AD |
| DNMT3B | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | AR |
| IKZF1 | immunodeficiency, common variable, 13 | AD |
| RORC | immunodeficiency 42 | AR |
| TLR3 | {encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2} | AD, AR |
| DOCK2 | immunodeficiency 40 | AR |
| RFXANK | mhc class ii deficiency, complementation group b | AR |
| IKBKB | immunodeficiency 15a | AD |
| IKBKB | immunodeficiency 15b | AR |
| ADAM17 | ?inflammatory skin and bowel disease, neonatal, 1 | AR |
| APOL1 | {end-stage renal disease, nondiabetic, susceptibility to} | |
| APOL1 | {glomerulosclerosis, focal segmental, 4, susceptibility to} | |
| BCL10 | ?immunodeficiency 37 | AR |
| RAB27A | griscelli syndrome, type 2 | AR |
| RASGRP1 | immunodeficiency 64 | |
| HELLS | immunodeficiency-centromeric instability-facial anomalies syndrome 4 | AR |
| UNC119 | ?immunodeficiency 13 | AD |
| STAT5B | growth hormone insensitivity with immunodeficiency | |
| ARPC1B | platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | AR |
| BLOC1S6 | ?hermansky-pudlak syndrome 9 | AR |
| TINF2 | dyskeratosis congenita, autosomal dominant 3 | AD |
| TINF2 | revesz syndrome | AD |
| DNAI1 | ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| ADAMTS13 | thrombotic thrombocytopenic purpura, familial | AR |
| SP110 | hepatic venoocclusive disease with immunodeficiency | AR |
| ICOS | immunodeficiency, common variable, 1 | AR |
| BLNK | ?agammaglobulinemia 4 | AR |
| RELB | ?immunodeficiency 53 | AR |
| TNFRSF13B | immunodeficiency, common variable, 2 | AD, AR |
| TNFRSF13B | immunoglobulin a deficiency 2 | |
| MALT1 | immunodeficiency 12 | AR |
| STK4 | t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations | |
| SPINK5 | netherton syndrome | AR |
| FCN3 | immunodeficiency due to ficolin 3 deficiency | AR |
| HPS1 | hermansky-pudlak syndrome 1 | AR |
| CORO1A | immunodeficiency 8 | AR |
| STX11 | hemophagocytic lymphohistiocytosis, familial, 4 | AR |
| IRF7 | ?immunodeficiency 39 | AR |
| MASP2 | masp2 deficiency | AR |
| GAS8 | ciliary dyskinesia, primary, 33 | AR |
| NCSTN | acne inversa, familial, 1 | AD |
| RBM8A | thrombocytopenia-absent radius syndrome | AR |
| AICDA | immunodeficiency with hyper-igm, type 2 | AR |
| IL21R | [ige, elevated level of] | AD |
| IL21R | immunodeficiency 56 | AR |
| IL17RA | immunodeficiency 51 | AR |
| IL21 | ?immunodeficiency, common variable, 11 | AR |
| BACH2 | immunodeficiency 60 | AD |
| EXTL3 | immunoskeletal dysplasia with neurodevelopmental abnormalities | AR |
| SRP54 | neutropenia, severe congenital, 8, autosomal dominant | AD |
| STIM1 | immunodeficiency 10 | AR |
| NOD2 | {inflammatory bowel disease 1, crohn disease} | Mu |
| HAX1 | neutropenia, severe congenital 3, autosomal recessive | AR |
| DCLRE1C | omenn syndrome | AR |
| DCLRE1C | severe combined immunodeficiency, athabascan type | AR |
| RNASEH2A | aicardi-goutieres syndrome 4 | AR |
| SLC35A1 | congenital disorder of glycosylation, type iif | AR |
| CLEC7A | {aspergillosis, susceptibility to} | |
| CLEC7A | candidiasis, familial, 4, autosomal recessive | AR |
| TNFRSF13C | immunodeficiency, common variable, 4 | AR |
| LRBA | immunodeficiency, common variable, 8, with autoimmunity | AR |
| PSTPIP1 | pyogenic sterile arthritis, pyoderma gangrenosum, and acne | AD |
| ITCH | autoimmune disease, multisystem, with facial dysmorphism | AR |
| IL17F | ?candidiasis, familial, 6, autosomal dominant | |
| MLPH | griscelli syndrome, type 3 | AR |
| SMARCAL1 | schimke immunoosseous dysplasia | AR |
| NLRP1 | {vitiligo-associated multiple autoimmune disease susceptibility 1} | |
| NLRP1 | autoinflammation with arthritis and dyskeratosis | AD, AR |
| NLRP1 | palmoplantar carcinoma, multiple self-healing | AD |
| TREX1 | {systemic lupus erythematosus, susceptibility to} | AD |
| TREX1 | aicardi-goutieres syndrome 1, dominant and recessive | AD, AR |
| TREX1 | chilblain lupus | AD |
| TREX1 | vasculopathy, retinal, with cerebral leukodystrophy | AD |
| GP1BA | {nonarteritic anterior ischemic optic neuropathy, susceptibility to} | AR |
| HPS4 | hermansky-pudlak syndrome 4 | AR |
| BCL11B | immunodeficiency 49 | AD |
| BCL11B | intellectual developmental disorder with dysmorphic facies, speech delay, and t-cell abnormalities | AD |
| SAMHD1 | ?chilblain lupus 2 | AD |
| SAMHD1 | aicardi-goutieres syndrome 5 | AR |
| LYST | chediak-higashi syndrome | AR |
| NLRC4 | ?familial cold autoinflammatory syndrome 4 | AD |
| NLRC4 | autoinflammation with infantile enterocolitis | AD |
| IRAK4 | invasive pneumococcal disease, recurrent isolated, 1 | |
| IRAK4 | irak4 deficiency | |
| COG6 | shaheen syndrome | AR |
| MPO | myeloperoxidase deficiency | AR |
| NLRP3 | cinca syndrome | AD |
| NLRP3 | deafness, autosomal dominant 34, with or without inflammation | AD |
| NLRP3 | familial cold inflammatory syndrome 1 | AD |
| NLRP3 | keratoendothelitis fugax hereditaria | AD |
| NLRP3 | muckle-wells syndrome | AD |
| TRAF3IP2 | ?candidiasis, familial, 8 | AR |
| CARD11 | immunodeficiency 11a | AR |
| CARD11 | immunodeficiency 11b with atopic dermatitis | AD |
| MC2R | glucocorticoid deficiency, due to acth unresponsiveness | AR |
| CARD9 | candidiasis, familial, 2, autosomal recessive | AR |
| CARD14 | pityriasis rubra pilaris | AD |
| ATM | ataxia-telangiectasia | AR |
| ADA2 | vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | AR |
| VPS13B | cohen syndrome | AR |
| NBAS | infantile liver failure syndrome 2 | AR |
| FERMT3 | leukocyte adhesion deficiency, type iii | AR |
| NSMCE3 | lung disease, immunodeficiency, and chromosome breakage syndrome | AR |
| LRRC8A | ?agammaglobulinemia 5 | AD |
| NCF2 | chronic granulomatous disease due to deficiency of ncf-2 | AR |
| CYBA | chronic granulomatous disease, autosomal, due to deficiency of cyba | AR |
| NCF1 | chronic granulomatous disease due to deficiency of ncf-1 | AR |
| CFHR5 | nephropathy due to cfhr5 deficiency | AD |
| CHD7 | charge syndrome | AD |
| ADA | adenosine deaminase deficiency, partial | AR, SMo |
| ADA | severe combined immunodeficiency due to ada deficiency | AR, SMo |
| TTC7A | gastrointestinal defects and immunodeficiency syndrome | AR |
| DDX58 | singleton-merten syndrome 2 | AD |
| FANCM | ?premature ovarian failure 15 | AR |
| NLRP12 | familial cold autoinflammatory syndrome 2 | AD |
| CDCA7 | immunodeficiency-centromeric instability-facial anomalies syndrome 3 | AR |
| VPS45 | neutropenia, severe congenital, 5, autosomal recessive | AR |
| ORAI1 | immunodeficiency 9 | AR |
| RNASEH2B | aicardi-goutieres syndrome 2 | AR |
| LAMTOR2 | immunodeficiency due to defect in mapbp-interacting protein | AR |
| RNASEH2C | aicardi-goutieres syndrome 3 | AR |
| BLOC1S3 | hermansky-pudlak syndrome 8 | AR |
| SAMD9 | mirage syndrome | AD |
| SAMD9 | tumoral calcinosis, familial, normophosphatemic | AR |
| GINS1 | immunodeficiency 55 | AR |
| CARMIL2 | immunodeficiency 58 | AR |
| IL17RC | candidiasis, familial, 9 | AR |
| RBCK1 | polyglucosan body myopathy 1 with or without immunodeficiency | AR |
| G6PC3 | dursun syndrome | AR |
| G6PC3 | neutropenia, severe congenital 4, autosomal recessive | AR |
| SAMD9L | ataxia-pancytopenia syndrome | AD |
| NHEJ1 | severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | |
| DOCK8 | hyper-ige recurrent infection syndrome, autosomal recessive | AR |
| RNF168 | riddle syndrome | AR |
| TRNT1 | retinitis pigmentosa and erythrocytic microcytosis | AR |
| TRNT1 | sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay | AR |
| TCN2 | transcobalamin ii deficiency | AR |
| USB1 | poikiloderma with neutropenia | AR |
| F5 | {budd-chiari syndrome} | AR |
| C2 | {macular degeneration, age-related, 14, reduced risk of} | |
| C2 | c2 deficiency | AR |
| C1R | ehlers-danlos syndrome, periodontal type, 1 | AD |
| ZBTB24 | immunodeficiency-centromeric instability-facial anomalies syndrome 2 | AR |
| IRF2BP2 | ?immunodeficiency, common variable, 14 | AD |
| OTULIN | autoinflammation, panniculitis, and dermatosis syndrome | AR |
| AP1S3 | {psoriasis 15, pustular, susceptibility to} | AD |
| JAGN1 | neutropenia, severe congenital, 6, autosomal recessive | AR |
| CLPB | 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia | AR |
| ZNF341 | hyper-ige recurrent infection syndrome 3, autosomal recessive | AR |
| C8G | Complement factor 8 defect | AR |
| CFHR2 | Viral susceptibility Membranoproliferative glomerulonephritis | AD, AR |
| CIITA | {Rheumatoid arthritis, susceptibility to} | |
| CIITA | Bare lymphocyte syndrome, type II, complementation group A | AR |
| DCLRE1B | Primary immunodeficiency | AR |
| DNASE2 | Primary immunodeficiency | AR |
| FPR1 | Primary immunodeficiency | AR |
| IL2 | ||
| INO80 | Primary immunodeficiency | AR |
| IRAK1 | ||
| ITGAM | systemic lupus erythematosus | |
| JAK1 | ||
| MAP3K14 | Primary immunodeficiency | AR |
| NHP2 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| SERPING1 | Complement component 4, partial deficiency of | AD |
| TPP2 | Primary immunodeficiency | AR |
| WDR1 | Primary immunodeficiency | AR |
| IFNGR1 | {h. pylori infection, susceptibility to} | |
| IFNGR1 | {hepatitis b virus infection, susceptibility to} | |
| IL10RB | {hepatitis b virus, susceptibility to} | |
| ERCC2 | ?cerebrooculofacioskeletal syndrome 2 | AR |
| ERCC2 | trichothiodystrophy 1, photosensitive | AR |
| ERCC2 | xeroderma pigmentosum, group d | AR |
| CFHR1 | {macular degeneration, age-related, reduced risk of} | AD |
| ERCC3 | trichothiodystrophy 2, photosensitive | AR |
| ERCC3 | xeroderma pigmentosum, group b | AR |
| ADAR | aicardi-goutieres syndrome 6 | AR |
| ADAR | dyschromatosis symmetrica hereditaria | AD |
| JAK2 | {budd-chiari syndrome, somatic} | |
| JAK2 | erythrocytosis, somatic | |
| JAK2 | leukemia, acute myeloid, somatic | |
| JAK2 | myelofibrosis, somatic | |
| JAK2 | polycythemia vera, somatic | |
| JAK2 | thrombocythemia 3 | AD, SMu |
| RMRP | anauxetic dysplasia 1 | AR |
| RMRP | cartilage-hair hypoplasia | AR |
| RMRP | metaphyseal dysplasia without hypotrichosis | AR |
| MPL | myelofibrosis with myeloid metaplasia, somatic | |
| MPL | thrombocythemia 2 | AD, SMu |
| MPL | thrombocytopenia, congenital amegakaryocytic | AR |
| PNP | immunodeficiency due to purine nucleoside phosphorylase deficiency | AR |
| NFKBIA | ectodermal dysplasia and immunodeficiency 2 | AD |
| CXCR4 | myelokathexis, isolated | |
| CXCR4 | whim syndrome | AD |
| PRF1 | hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| PLG | dysplasminogenemia | AR |
| POLE | fils syndrome | AR |
| POLE | image-i syndrome | AR |
| RPL35A | diamond-blackfan anemia 5 | AD |
| GP9 | bernard-soulier syndrome, type c | AR |
| CD27 | lymphoproliferative syndrome 2 | AR |
| KRAS | oculoectodermal syndrome, somatic | |
| PCCA | propionicacidemia | AR |
| MVK | mevalonic aciduria | AR |
| MVK | porokeratosis 3, multiple types | AD |
| XIAP | lymphoproliferative syndrome, x-linked, 2 | XLR |
| KDM6A | kabuki syndrome 2 | XLD |
| FANCB | fanconi anemia, complementation group b | XLR |
| PIH1D3 | ciliary dyskinesia, primary, 36, x-linked | XLR |
| POLA1 | pigmentary disorder, reticulate, with systemic manifestations, x-linked | XLR |
| POLA1 | van esch-o'driscoll syndrome | XLR |
| RPGR | cone-rod dystrophy, x-linked, 1 | XL |
| RPGR | macular degeneration, x-linked atrophic | XLR |
| RPGR | retinitis pigmentosa 3 | |
| CREBBP | rubinstein-taybi syndrome 1 | AD |
| PI4KA | polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | AR |
| ETV6 | thrombocytopenia 5 | AD |
| RNU4ATAC | microcephalic osteodysplastic primordial dwarfism, type i | AR |
| RNU4ATAC | roifman syndrome | AR |
| CASP10 | autoimmune lymphoproliferative syndrome, type ii | AD |
| CASP10 | gastric cancer, somatic | |
| CASP10 | lymphoma, non-hodgkin, somatic | |
| CASP8 | ?autoimmune lymphoproliferative syndrome, type iib | AR |
| CASP8 | {breast cancer, protection against} | AD, SMu |
| CASP8 | {lung cancer, protection against} | AD, SMu |
| CASP8 | hepatocellular carcinoma, somatic | |
| COPA | {autoimmune interstitial lung, joint, and kidney disease} | AD |
| LIG4 | lig4 syndrome | AR |
| PTEN | macrocephaly/autism syndrome | AD |
| TNFSF11 | osteopetrosis, autosomal recessive 2 | AR |
| SLC37A4 | glycogen storage disease ic | AR |
| CLCN7 | hypopigmentation, organomegaly, and delayed myelination and development | AD |
| RAD51C | fanconi anemia, complementation group o | AR |
| CD70 | lymphoproliferative syndrome 3 | AR |
| FANCG | fanconi anemia, complementation group g | |
| DNAH5 | ciliary dyskinesia, primary, 3, with or without situs inversus | |
| SLC7A7 | lysinuric protein intolerance | AR |
| IRF3 | {encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7} | AD |
| RECQL4 | baller-gerold syndrome | AR |
| RECQL4 | rapadilino syndrome | AR |
| RECQL4 | rothmund-thomson syndrome, type 2, | AR |
| TBK1 | {encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} | AD |
| IL36RN | psoriasis 14, pustular | AR |
| CFHR3 | {hemolytic uremic syndrome, atypical, susceptibility to} | AD, AR |
| BRIP1 | fanconi anemia, complementation group j | |
| SLC35C1 | congenital disorder of glycosylation, type iic | AR |
| TIRAP | {bacteremia, protection against} | |
| TRAF3IP2 | {psoriasis susceptibility 13} | |
| AIRE | autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia | AD, AR |
| HPS5 | hermansky-pudlak syndrome 5 | AR |
| HPS6 | hermansky-pudlak syndrome 6 | AR |
| PSENEN | acne inversa, familial, 2, with or without dowling-degos disease | AD |
| CCNO | ciliary dyskinesia, primary, 29 | AR |
| NBAS | short stature, optic nerve atrophy, and pelger-huet anomaly | AR |
| SEMA3E | ?charge syndrome | AD |
| FANCL | fanconi anemia, complementation group l | AR |
| MEFV | familial mediterranean fever, ad | AD |
| MEFV | familial mediterranean fever, ar | AR |
| MANBA | mannosidosis, beta | AR |
| MAN2B1 | mannosidosis, alpha-, types i and ii | AR |
| BLM | Bloom syndrome | AR |
| SERPING1 | Angioedema, hereditary, types I and II | AD, AR |
| TMEM173 | STING-associated vasculopathy, infantile-onset | AD |
| STXBP2 | hemophagocytic lymphohistiocytosis, familial, 5 | |
| DNAH11 | ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH1 | ?ciliary dyskinesia, primary, 37 | AR |
| SPAG1 | ciliary dyskinesia, primary, 28 | AR |
| ZMYND10 | ciliary dyskinesia, primary, 22 | AR |
| SLC39A4 | acrodermatitis enteropathica | AR |
| NME8 | ciliary dyskinesia, primary, 6 | AR |
| DNAAF4 | {dyslexia, susceptibility to, 1} | AD |
| UNC13D | hemophagocytic lymphohistiocytosis, familial, 3 | AR |
| DNAL1 | ciliary dyskinesia, primary, 16 | AR |
| CCDC65 | ciliary dyskinesia, primary, 27 | AR |
| DNAAF2 | ciliary dyskinesia, primary, 10 | |
| RSPH4A | ciliary dyskinesia, primary, 11 | |
| RSPH9 | ciliary dyskinesia, primary, 12 |
| Title | Phenotype | Inheritance |
|---|---|---|
| CD59 | hemolytic anemia, cd59-mediated, with or without immune-mediated polyneuropathy | AR |
| CR2 | {systemic lupus erythematosus, susceptibility to, 9} | |
| CR2 | immunodeficiency, common variable, 7 | AR |
| C3 | {hemolytic uremic syndrome, atypical, susceptibility to, 5} | AD |
| C3 | {macular degeneration, age-related, 9} | |
| C3 | c3 deficiency | AR |
| CR1 | cr1 deficiency | |
| CD46 | {hemolytic uremic syndrome, atypical, susceptibility to, 2} | AD, AR |
| CFHR1 | {hemolytic uremic syndrome, atypical, susceptibility to} | AD, AR |
| CFH | {hemolytic uremic syndrome, atypical, susceptibility to, 1} | AD, AR |
| CFH | complement factor h deficiency | AD, AR |
| CFB | ?complement factor b deficiency | |
| CFB | {hemolytic uremic syndrome, atypical, susceptibility to, 4} | AD |
| THBD | {hemolytic uremic syndrome, atypical, susceptibility to, 6} | AD |
| CFI | {hemolytic uremic syndrome, atypical, susceptibility to, 3} | AD |
| CFI | {macular degeneration, age-related, 13, susceptibility to} | AD |
| CFI | complement factor i deficiency | AR |
| PIGA | paroxysmal nocturnal hemoglobinuria, somatic | |
| DGKE | {hemolytic uremic syndrome, atypical, susceptibility to, 7} | AR |
| DGKE | nephrotic syndrome, type 7 | AR |
| ADAMTS13 | thrombotic thrombocytopenic purpura, familial | AR |
| CFHR3 | {hemolytic uremic syndrome, atypical, susceptibility to} | AD, AR |
| CFHR5 | nephropathy due to cfhr5 deficiency | AD |
| MMACHC | methylmalonic aciduria and homocystinuria, cblc type | AR |
| INF2 | charcot-marie-tooth disease, dominant intermediate e | AD |
| INF2 | glomerulosclerosis, focal segmental, 5 | |
| CFHR2 | Viral susceptibility Membranoproliferative glomerulonephritis Membranoproliferative glomerulonephritis | AD, AR |
| MMUT | Methylmalonic aciduria, mut(0) type | AR |
| CFHR1 | {macular degeneration, age-related, reduced risk of} | AD |
| PLG | plasminogen deficiency, type i | AR |
| THBD | thrombophilia due to thrombomodulin defect | |
| CFHR3 | {macular degeneration, age-related, reduced risk of} | AD |
Bartter Syndrome Panel
| Title | Phenotype | Inheritance |
|---|---|---|
| SLC4A1 | [blood group, diego] | |
| SLC4A1 | [blood group, froese] | |
| SLC4A1 | [blood group, swann] | |
| SLC4A1 | [blood group, waldner] | |
| SLC4A1 | [blood group, wright] | |
| SLC4A1 | [malaria, resistance to] | |
| SLC4A1 | cryohydrocytosis | AD |
| SLC4A1 | ovalocytosis, sa type | AD |
| SLC4A1 | renal tubular acidosis, distal, ad | AD |
| SLC4A1 | renal tubular acidosis, distal, ar | AR |
| SLC4A1 | spherocytosis, type 4 | AD |
| ATP6V1B1 | renal tubular acidosis with deafness | AR |
| SCNN1A | ?liddle syndrome 3 | AD |
| SCNN1A | bronchiectasis with or without elevated sweat chloride 2 | AD |
| SCNN1A | pseudohypoaldosteronism, type i | AR |
| KCNJ1 | bartter syndrome, type 2 | AR |
| SCNN1B | bronchiectasis with or without elevated sweat chloride 1 | AD |
| SCNN1B | liddle syndrome 1 | AD |
| SCNN1B | pseudohypoaldosteronism, type i | AR |
| SLC12A1 | bartter syndrome, type 1 | AR |
| NR3C2 | hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | |
| NR3C2 | pseudohypoaldosteronism type i, autosomal dominant | AD |
| SLC12A3 | gitelman syndrome | AR |
| CASR | {epilepsy idiopathic generalized, susceptibility to, 8} | |
| CASR | hyperparathyroidism, neonatal | AD, AR |
| CASR | hypocalcemia, autosomal dominant | AD |
| CASR | hypocalcemia, autosomal dominant, with bartter syndrome | AD |
| CASR | hypocalciuric hypercalcemia, type i | AD |
| SCNN1G | bronchiectasis with or without elevated sweat chloride 3 | AD |
| SCNN1G | liddle syndrome 2 | AD |
| SCNN1G | pseudohypoaldosteronism, type i | AR |
| FXYD2 | hypomagnesemia 2, renal | AD |
| WNK4 | pseudohypoaldosteronism, type iib | AD |
| CLCNKB | bartter syndrome, type 3 | AR |
| CLCNKB | bartter syndrome, type 4b, digenic | DR |
| CLCNKA | bartter syndrome, type 4b, digenic | DR |
| KCNJ10 | enlarged vestibular aqueduct, digenic | AR |
| KCNJ10 | sesame syndrome | AR |
| SLC4A4 | renal tubular acidosis, proximal, with ocular abnormalities | AR |
| CLDN16 | hypomagnesemia 3, renal | AR |
| WNK1 | neuropathy, hereditary sensory and autonomic, type ii | AR |
| WNK1 | pseudohypoaldosteronism, type iic | AD |
| KLHL3 | pseudohypoaldosteronism, type iid | AD, AR |
| BSND | bartter syndrome, type 4a | AR |
| BSND | sensorineural deafness with mild renal dysfunction | AR |
| CLDN19 | hypomagnesemia 5, renal, with ocular involvement | AR |
| CA2 | osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| HSD11B2 | apparent mineralocorticoid excess | AR |
| SLC12A2 |
| Title | Phenotype | Inheritance |
|---|---|---|
| SLC12A3 | gitelman syndrome | AR |
| CLCNKB | bartter syndrome, type 3 | AR |
| CLCNKB | bartter syndrome, type 4b, digenic | DR |
CentoNephro Plus
| Title | Phenotype | Inheritance |
|---|---|---|
| SLC4A1 | cryohydrocytosis | AD |
| SLC4A1 | renal tubular acidosis, distal, ad | AD |
| SLC4A1 | renal tubular acidosis, distal, ar | AR |
| COL4A3 | alport syndrome 2, autosomal recessive | AR |
| COL4A3 | alport syndrome 3, autosomal dominant | AD |
| COL4A3 | hematuria, benign familial | AD |
| COL4A4 | alport syndrome 2, autosomal recessive | AR |
| COL4A4 | hematuria, familial benign | AD |
| COL4A1 | angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD |
| SLC26A3 | diarrhea 1, secretory chloride, congenital | AR |
| FGFR1 | encephalocraniocutaneous lipomatosis, somatic mosaic | |
| FAS | {autoimmune lymphoproliferative syndrome} | AD |
| FAS | autoimmune lymphoproliferative syndrome, type ia | AD |
| GNA11 | hypocalcemia, autosomal dominant 2 | AD |
| GNA11 | hypocalciuric hypercalcemia, type ii | AD |
| FASLG | autoimmune lymphoproliferative syndrome, type ib | AD |
| IMPDH1 | retinitis pigmentosa 10 | AD |
| LAMB2 | nephrotic syndrome, type 5, with or without ocular abnormalities | |
| MYH9 | deafness, autosomal dominant 17 | AD |
| MYH9 | macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD |
| PCSK1 | obesity with impaired prohormone processing | AR |
| GLI3 | greig cephalopolysyndactyly syndrome | AD |
| GLI3 | pallister-hall syndrome | AD |
| PAX2 | glomerulosclerosis, focal segmental, 7 | AD |
| PAX2 | papillorenal syndrome | AD |
| PEX2 | peroxisome biogenesis disorder 5a (zellweger) | AR |
| PEX2 | peroxisome biogenesis disorder 5b | AR |
| ABCB4 | cholestasis, progressive familial intrahepatic 3 | AR |
| LEP | obesity, morbid, due to leptin deficiency | AR |
| PKD2 | polycystic kidney disease 2 | AD |
| POLG | mitochondrial dna depletion syndrome 4a (alpers type) | AR |
| POLG | mitochondrial dna depletion syndrome 4b (mngie type) | AR |
| POLG | mitochondrial recessive ataxia syndrome (includes sando and scae) | AR |
| POU1F1 | pituitary hormone deficiency, combined, 1 | AD, AR |
| ENPP1 | {obesity, susceptibility to} | AD, AR, Mu |
| ENPP1 | hypophosphatemic rickets, autosomal recessive, 2 | AR |
| POMC | obesity, adrenal insufficiency, and red hair due to pomc deficiency | AR |
| RD3 | leber congenital amaurosis 12 | AR |
| RPE65 | retinitis pigmentosa 20 | AR |
| PRPH2 | macular dystrophy, patterned, 1 | AD |
| RLBP1 | bothnia retinal dystrophy | AR |
| ALPL | hypophosphatasia, adult | AD, AR |
| ALPL | hypophosphatasia, childhood | AR |
| ALPL | hypophosphatasia, infantile | AR |
| ALPL | odontohypophosphatasia | AD, AR |
| SLC34A1 | ?fanconi renotubular syndrome 2 | AR |
| SLC34A1 | hypercalcemia, infantile, 2 | AR |
| SLC34A1 | nephrolithiasis/osteoporosis, hypophosphatemic, 1 | AD |
| HNF1B | {renal cell carcinoma} | |
| HNF1B | renal cysts and diabetes syndrome | AD |
| TSC2 | tuberous sclerosis-2 | AD |
| UGT1A1 | crigler-najjar syndrome, type ii | AR |
| ATP6V1B1 | renal tubular acidosis with deafness | AR |
| BBS1 | bardet-biedl syndrome 1 | AR, DR |
| INVS | nephronophthisis 2, infantile | AR |
| MYO7A | usher syndrome, type 1b | AR |
| CLCN5 | dent disease | XLR |
| CLCN5 | hypophosphatemic rickets | XLR |
| CLCN5 | nephrolithiasis, type i | XLR |
| CLCN5 | proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | XLR |
| ZIC3 | vacterl association, x-linked | XLR |
| OFD1 | joubert syndrome 10 | XLR |
| NR0B1 | adrenal hypoplasia, congenital | XLR |
| PHF6 | borjeson-forssman-lehmann syndrome | XLR |
| OCRL | dent disease 2 | XLR |
| OCRL | lowe syndrome | XLR |
| ANOS1 | hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) | XLR |
| COL4A5 | alport syndrome 1, x-linked | XLD |
| SOX3 | panhypopituitarism, x-linked | XL |
| NOTCH2 | alagille syndrome 2 | AD |
| GUCY2D | cone-rod dystrophy 6 | AD, AR |
| GLA | fabry disease | XL |
| GLA | fabry disease, cardiac variant | XL |
| SCNN1A | ?liddle syndrome 3 | AD |
| SCNN1A | pseudohypoaldosteronism, type i | AR |
| KCNJ1 | bartter syndrome, type 2 | AR |
| PEX5 | peroxisome biogenesis disorder 2a (zellweger) | AR |
| PEX5 | peroxisome biogenesis disorder 2b | AR |
| PEX5 | rhizomelic chondrodysplasia punctata, type 5 | AR |
| CENPF | stromme syndrome | AR |
| HNF4A | fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| SCNN1B | liddle syndrome 1 | AD |
| SCNN1B | pseudohypoaldosteronism, type i | AR |
| SLC12A1 | bartter syndrome, type 1 | AR |
| KCNJ5 | hyperaldosteronism, familial, type iii | AD |
| NR3C2 | pseudohypoaldosteronism type i, autosomal dominant | AD |
| SLC12A3 | gitelman syndrome | AR |
| GHR | growth hormone insensitivity, partial | AD |
| NPC2 | niemann-pick disease, type c2 | AR |
| CASR | hypocalcemia, autosomal dominant | AD |
| CASR | hypocalcemia, autosomal dominant, with bartter syndrome | AD |
| CASR | hypocalciuric hypercalcemia, type i | AD |
| SCNN1G | liddle syndrome 2 | AD |
| SCNN1G | pseudohypoaldosteronism, type i | AR |
| NODAL | heterotaxy, visceral, 5 | AD |
| DGUOK | mitochondrial dna depletion syndrome 3 (hepatocerebral type) | AR |
| PEX6 | heimler syndrome 2 | AR |
| DGKE | nephrotic syndrome, type 7 | AR |
| LEPR | obesity, morbid, due to leptin receptor deficiency | AR |
| PPARG | lipodystrophy, familial partial, type 3 | AD |
| PKD1 | polycystic kidney disease 1 | AD |
| CASP10 | autoimmune lymphoproliferative syndrome, type ii | AD |
| ABCC2 | dubin-johnson syndrome | AR |
| FXYD2 | hypomagnesemia 2, renal | AD |
| HESX1 | growth hormone deficiency with pituitary anomalies | AD, AR |
| ARHGDIA | nephrotic syndrome, type 8 | AR |
| PEX12 | peroxisome biogenesis disorder 3a (zellweger) | AR |
| PEX12 | peroxisome biogenesis disorder 3b | AR |
| WNK4 | pseudohypoaldosteronism, type iib | AD |
| CLCNKB | bartter syndrome, type 3 | AR |
| CLCNKB | bartter syndrome, type 4b, digenic | DR |
| JAG1 | ?deafness, congenital heart defects, and posterior embryotoxon | |
| JAG1 | alagille syndrome 1 | AD |
| CLCNKA | bartter syndrome, type 4b, digenic | DR |
| PEX1 | heimler syndrome 1 | AR |
| PEX1 | peroxisome biogenesis disorder 1a (zellweger) | AR |
| PEX1 | peroxisome biogenesis disorder 1b (nald/ird) | AR |
| AP2S1 | hypocalciuric hypercalcemia, type iii | AD |
| CRX | cone-rod retinal dystrophy-2 | AD |
| KCNJ10 | sesame syndrome | AR |
| SCARB2 | epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| SOX10 | pcwh syndrome | AD |
| LMX1B | nail-patella syndrome | AD |
| PDE6D | ?joubert syndrome 22 | AR |
| NPHS1 | nephrotic syndrome, type 1 | AR |
| CFTR | congenital bilateral absence of vas deferens | AR |
| CFTR | cystic fibrosis | AR |
| PEX10 | peroxisome biogenesis disorder 6a (zellweger) | AR |
| CUBN | megaloblastic anemia-1, finnish type | AR |
| DHCR7 | smith-lemli-opitz syndrome | AR |
| CUL3 | pseudohypoaldosteronism, type iie | AD |
| PNPLA6 | boucher-neuhauser syndrome | AR |
| KCNJ13 | leber congenital amaurosis 16 | AR |
| KISS1 | ?hypogonadotropic hypogonadism 13 with or without anosmia | AR |
| LCT | lactase deficiency, congenital | AR |
| SLC4A4 | renal tubular acidosis, proximal, with ocular abnormalities | AR |
| LRP5 | polycystic liver disease 4 with or without kidney cysts | AD |
| BCS1L | leigh syndrome | AR, Mi |
| BCS1L | mitochondrial complex iii deficiency, nuclear type 1 | AR |
| TRPC6 | glomerulosclerosis, focal segmental, 2 | AD |
| BBS5 | bardet-biedl syndrome 5 | AR |
| FGF17 | hypogonadotropic hypogonadism 20 with or without anosmia | AD |
| SLC25A15 | hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A13 | citrullinemia, adult-onset type ii | AR |
| SLC25A13 | citrullinemia, type ii, neonatal-onset | AR |
| CLDN16 | hypomagnesemia 3, renal | AR |
| KISS1R | ?precocious puberty, central, 1 | AD |
| KISS1R | hypogonadotropic hypogonadism 8 with or without anosmia | AR |
| CYP7B1 | bile acid synthesis defect, congenital, 3 | AR |
| CD2AP | glomerulosclerosis, focal segmental, 3 | |
| AIPL1 | leber congenital amaurosis 4 | AR |
| PROM1 | cone-rod dystrophy 12 | |
| CRB1 | pigmented paravenous chorioretinal atrophy | AD |
| ZNF423 | joubert syndrome 19 | AD, AR |
| ZNF423 | nephronophthisis 14 | AD, AR |
| NEK1 | {amyotrophic lateral sclerosis, susceptibility to, 24} | AD |
| NEK1 | short-rib thoracic dysplasia 6 with or without polydactyly | AR, DR |
| ACTN4 | glomerulosclerosis, focal segmental, 1 | AD |
| NPHS2 | nephrotic syndrome, type 2 | AR |
| NEUROG3 | diarrhea 4, malabsorptive, congenital | AR |
| MKKS | bardet-biedl syndrome 6 | AR |
| ITGA3 | interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| WNK1 | pseudohypoaldosteronism, type iic | AD |
| CFC1 | heterotaxy, visceral, 2, autosomal | AD |
| RPGRIP1 | leber congenital amaurosis 6 | AR |
| ATP6V0A4 | renal tubular acidosis, distal, autosomal recessive | |
| TSC1 | tuberous sclerosis-1 | AD |
| KLHL3 | pseudohypoaldosteronism, type iid | AD, AR |
| IFT122 | cranioectodermal dysplasia 1 | AR |
| BBS2 | bardet-biedl syndrome 2 | AR |
| CTNS | cystinosis, atypical nephropathic | AR |
| CTNS | cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| CTNS | cystinosis, nephropathic | AR |
| CTNS | cystinosis, ocular nonnephropathic | AR |
| BSND | bartter syndrome, type 4a | AR |
| BSND | sensorineural deafness with mild renal dysfunction | AR |
| MAGI2 | nephrotic syndrome, type 15 | AR |
| LZTFL1 | bardet-biedl syndrome 17 | AR |
| PKHD1 | polycystic kidney disease 4, with or without hepatic disease | AR |
| IL17RD | hypogonadotropic hypogonadism 18 with or without anosmia | AD, AR, DD |
| ALMS1 | alstrom syndrome | AR |
| NPHP1 | joubert syndrome 4 | AR |
| NPHP1 | nephronophthisis 1, juvenile | AR |
| NPHP4 | nephronophthisis 4 | AR |
| WT1 | denys-drash syndrome | AD, SMu |
| WT1 | frasier syndrome | AD, SMu |
| WT1 | meacham syndrome | |
| WT1 | mesothelioma, somatic | |
| WT1 | nephrotic syndrome, type 4 | AD |
| WT1 | wilms tumor, type 1 | AD, SMu |
| MMAA | methylmalonic aciduria, vitamin b12-responsive | AR |
| MMAB | methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type | AR |
| BBS7 | bardet-biedl syndrome 7 | AR |
| NPC1 | niemann-pick disease, type c1 | AR |
| SMPD1 | niemann-pick disease, type a | AR |
| NPHP3 | meckel syndrome 7 | AR |
| NPHP3 | nephronophthisis 3 | AR |
| NPHP3 | renal-hepatic-pancreatic dysplasia 1 | AR |
| TTC8 | bardet-biedl syndrome 8 | AR |
| ALG8 | congenital disorder of glycosylation, type ih | AR |
| ALG8 | polycystic liver disease 3 with or without kidney cysts | AD |
| WDR19 | nephronophthisis 13 | AR |
| WDR19 | senior-loken syndrome 8 | AR |
| EVC2 | ellis-van creveld syndrome | AR |
| MCEE | methylmalonyl-coa epimerase deficiency | AR |
| PLCE1 | nephrotic syndrome, type 3 | AR |
| MMP21 | heterotaxy, visceral, 7, autosomal | AR |
| GLIS2 | nephronophthisis 7 | |
| PEX26 | peroxisome biogenesis disorder 7a (zellweger) | AR |
| VHL | pheochromocytoma | AD |
| VHL | renal cell carcinoma, somatic | |
| NMNAT1 | leber congenital amaurosis 9 | AR |
| RDH12 | leber congenital amaurosis 13 | AD, AR |
| ARL13B | joubert syndrome 8 | AR |
| CHD7 | charge syndrome | AD |
| CABP4 | cone-rod synaptic disorder, congenital nonprogressive | AR |
| ARL6 | bardet-biedl syndrome 3 | AR |
| AHI1 | joubert syndrome 3 | AR |
| IQCB1 | senior-loken syndrome 5 | AR |
| RSPH1 | ciliary dyskinesia, primary, 24 | AR |
| COQ2 | {multiple system atrophy, susceptibility to} | AD, AR |
| COQ2 | coenzyme q10 deficiency, primary, 1 | AR |
| TCTN1 | joubert syndrome 13 | AR |
| SPATA7 | leber congenital amaurosis 3 | |
| SPATA7 | retinitis pigmentosa, juvenile, autosomal recessive | |
| NEK8 | ?nephronophthisis 9 | |
| NEK8 | renal-hepatic-pancreatic dysplasia 2 | AR |
| TMEM67 | ?rhyns syndrome | AR |
| TMEM67 | {bardet-biedl syndrome 14, modifier of} | AR |
| TMEM67 | coach syndrome | AR |
| TMEM67 | joubert syndrome 6 | AR |
| TMEM67 | meckel syndrome 3 | AR |
| TMEM67 | nephronophthisis 11 | AR |
| MKS1 | bardet-biedl syndrome 13 | AR |
| MKS1 | joubert syndrome 28 | AR |
| MKS1 | meckel syndrome 1 | AR |
| PKD1L1 | heterotaxy, visceral, 8, autosomal | AR |
| CLDN19 | hypomagnesemia 5, renal, with ocular involvement | AR |
| CEP290 | ?bardet-biedl syndrome 14 | AR |
| CEP290 | joubert syndrome 5 | AR |
| CEP290 | leber congenital amaurosis 10 | |
| CEP290 | meckel syndrome 4 | AR |
| CEP290 | senior-loken syndrome 6 | AR |
| CCDC28B | {bardet-biedl syndrome 1, modifier of} | AR, DR |
| BBS10 | bardet-biedl syndrome 10 | AR |
| CEP41 | joubert syndrome 15 | AR |
| TRMU | {deafness, mitochondrial, modifier of} | Mi |
| TRMU | liver failure, transient infantile | AR |
| PDSS2 | coenzyme q10 deficiency, primary, 3 | AR |
| HYLS1 | hydrolethalus syndrome | AR |
| HYDIN | ciliary dyskinesia, primary, 5 | AR |
| BBS12 | bardet-biedl syndrome 12 | AR |
| RPGRIP1L | coach syndrome | AR |
| RPGRIP1L | joubert syndrome 7 | AR |
| RPGRIP1L | meckel syndrome 5 | AR |
| INF2 | charcot-marie-tooth disease, dominant intermediate e | AD |
| INF2 | glomerulosclerosis, focal segmental, 5 | |
| LCA5 | leber congenital amaurosis 5 | AR |
| CA2 | osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
| KIF7 | acrocallosal syndrome | AR |
| KIF7 | joubert syndrome 12 | AR |
| CSPP1 | joubert syndrome 21 | AR |
| B9D2 | ?meckel syndrome 10 | AR |
| B9D2 | joubert syndrome 34 | AR |
| TTC21B | nephronophthisis 12 | AD, AR |
| CC2D2A | coach syndrome | AR |
| CC2D2A | joubert syndrome 9 | AR |
| CC2D2A | meckel syndrome 6 | AR |
| MMADHC | homocystinuria, cbld type, variant 1 | AR |
| MMADHC | methylmalonic aciduria and homocystinuria, cbld type | AR |
| MMADHC | methylmalonic aciduria, cbld type, variant 2 | AR |
| COQ9 | coenzyme q10 deficiency, primary, 5 | AR |
| INPP5E | joubert syndrome 1 | AR |
| INPP5E | mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| TMEM216 | joubert syndrome 2 | AR |
| TMEM216 | meckel syndrome 2 | AR |
| SDCCAG8 | bardet-biedl syndrome 16 | AR |
| SDCCAG8 | senior-loken syndrome 7 | |
| VIPAS39 | arthrogryposis, renal dysfunction, and cholestasis 2 | AR |
| WDPCP | ?bardet-biedl syndrome 15 | AR |
| WDPCP | ?congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
| WDR35 | cranioectodermal dysplasia 2 | AR |
| HFE | hemochromatosis | AR |
| TCTN2 | joubert syndrome 24 | AR |
| FAH | tyrosinemia, type i | AR |
| TCTN3 | joubert syndrome 18 | AR |
| B9D1 | ?meckel syndrome 9 | AR |
| B9D1 | joubert syndrome 27 | AR |
| IFT43 | ?cranioectodermal dysplasia 3 | AR |
| POLR3B | leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| TMEM138 | joubert syndrome 16 | AR |
| BICC1 | {renal dysplasia, cystic, susceptibility to} | AD |
| HSD11B2 | apparent mineralocorticoid excess | AR |
| CPLANE1 | joubert syndrome 17 | AR |
| CPLANE1 | orofaciodigital syndrome vi | AR |
| TMEM237 | joubert syndrome 14 | AR |
| COQ6 | coenzyme q10 deficiency, primary, 6 | AR |
| CEP164 | nephronophthisis 15 | AR |
| TMEM231 | joubert syndrome 20 | AR |
| TMEM231 | meckel syndrome 11 | AR |
| RMND1 | combined oxidative phosphorylation deficiency 11 | AR |
| ANKS6 | nephronophthisis 16 | AR |
| COQ8B | nephrotic syndrome, type 9 | AR |
| IFT27 | ?bardet-biedl syndrome 19 | AR |
| WDR73 | galloway-mowat syndrome 1 | AR |
| BBS9 | Bardet-Biedl syndrome 9 | AR |
| C8orf37 | Bardet-Biedl syndrome 21 | AR |
| C8orf37 | Cone-rod dystrophy 16 | AR |
| C8orf37 | Retinitis pigmentosa 64 | AR |
| CFAP53 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| LEFTY2 | Familial non syndromic congenital heart disease | AD |
| MMUT | Methylmalonic aciduria, mut(0) type | AR |
| FSHB | hypogonadotropic hypogonadism 24 without anosmia | AR |
| SLC2A2 | {diabetes mellitus, noninsulin-dependent} | AD |
| GNRHR | hypogonadotropic hypogonadism 7 without anosmia | AR |
| GLI2 | culler-jones syndrome | AD |
| OTX2 | pituitary hormone deficiency, combined, 6 | AD |
| CNGA3 | achromatopsia 2 | AR |
| BBS4 | bardet-biedl syndrome 4 | AR |
| SCNN1A | bronchiectasis with or without elevated sweat chloride 2 | AD |
| RDH5 | fundus albipunctatus | AD, AR |
| TRIM32 | muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| PMM2 | congenital disorder of glycosylation, type ia | AR |
| TULP1 | leber congenital amaurosis 15 | AR |
| TULP1 | retinitis pigmentosa 14 | AR |
| ACVR2B | heterotaxy, visceral, 4, autosomal | |
| NR2E3 | enhanced s-cone syndrome | AR |
| EVC | ellis-van creveld syndrome | AR |
| FLRT3 | hypogonadotropic hypogonadism 21 with anosmia | AD |
| LRAT | leber congenital amaurosis 14 | AR |
| SPINT2 | diarrhea 3, secretory sodium, congenital, syndromic | AR |
Focal Glomerulonephrosis Panel
| Title | Phenotype | Inheritance |
|---|---|---|
| NPHS1 | nephrotic syndrome, type 1 | AR |
| TRPC6 | glomerulosclerosis, focal segmental, 2 | AD |
| CD2AP | glomerulosclerosis, focal segmental, 3 | |
| ACTN4 | glomerulosclerosis, focal segmental, 1 | AD |
| NPHS2 | nephrotic syndrome, type 2 | AR |
| WT1 | denys-drash syndrome | AD, SMu |
| WT1 | frasier syndrome | AD, SMu |
| WT1 | meacham syndrome | |
| WT1 | mesothelioma, somatic | |
| WT1 | nephrotic syndrome, type 4 | AD |
| WT1 | wilms tumor, type 1 | AD, SMu |
| INF2 | charcot-marie-tooth disease, dominant intermediate e | AD |
| INF2 | glomerulosclerosis, focal segmental, 5 |
Nephronophthisis Panel
| Title | Phenotype | Inheritance |
|---|---|---|
| INVS | nephronophthisis 2, infantile | AR |
| ZNF423 | joubert syndrome 19 | AD, AR |
| ZNF423 | nephronophthisis 14 | AD, AR |
| NPHP1 | joubert syndrome 4 | AR |
| NPHP1 | nephronophthisis 1, juvenile | AR |
| NPHP1 | senior-loken syndrome-1 | AR |
| NPHP4 | nephronophthisis 4 | AR |
| NPHP4 | senior-loken syndrome 4 | AR |
| NPHP3 | meckel syndrome 7 | AR |
| NPHP3 | nephronophthisis 3 | AR |
| NPHP3 | renal-hepatic-pancreatic dysplasia 1 | AR |
| GLIS2 | nephronophthisis 7 | |
| IQCB1 | senior-loken syndrome 5 | AR |
| NEK8 | ?nephronophthisis 9 | |
| NEK8 | renal-hepatic-pancreatic dysplasia 2 | AR |
| CEP290 | ?bardet-biedl syndrome 14 | AR |
| CEP290 | joubert syndrome 5 | AR |
| CEP290 | leber congenital amaurosis 10 | |
| CEP290 | meckel syndrome 4 | AR |
| CEP290 | senior-loken syndrome 6 | AR |
| RPGRIP1L | coach syndrome | AR |
| RPGRIP1L | joubert syndrome 7 | AR |
| RPGRIP1L | meckel syndrome 5 | AR |
| SDCCAG8 | bardet-biedl syndrome 16 | AR |
| SDCCAG8 | senior-loken syndrome 7 | |
| CEP164 | nephronophthisis 15 | AR |
| ANKS6 | nephronophthisis 16 | AR |
Nephrotic Syndrome Panel
| Title | Phenotype | Inheritance |
|---|---|---|
| COL4A3 | alport syndrome 2, autosomal recessive | AR |
| COL4A3 | alport syndrome 3, autosomal dominant | AD |
| COL4A3 | hematuria, benign familial | AD |
| COL4A4 | alport syndrome 2, autosomal recessive | AR |
| COL4A4 | hematuria, familial benign | AD |
| FN1 | glomerulopathy with fibronectin deposits 2 | AD |
| FN1 | plasma fibronectin deficiency | AD |
| FN1 | spondylometaphyseal dysplasia, corner fracture type | AD |
| ITGB4 | epidermolysis bullosa of hands and feet | AD |
| ITGB4 | epidermolysis bullosa, junctional, non-herlitz type | AR |
| ITGB4 | epidermolysis bullosa, junctional, with pyloric atresia | AR |
| LAMB2 | nephrotic syndrome, type 5, with or without ocular abnormalities | |
| LAMB2 | pierson syndrome | AR |
| PAX2 | glomerulosclerosis, focal segmental, 7 | AD |
| PAX2 | papillorenal syndrome | AD |
| COL4A6 | ?deafness, x-linked 6 | XLR |
| COL4A5 | alport syndrome 1, x-linked | XLD |
| PTPRO | nephrotic syndrome, type 6 | AR |
| MYO1E | glomerulosclerosis, focal segmental, 6 | AR |
| DGKE | {hemolytic uremic syndrome, atypical, susceptibility to, 7} | AR |
| DGKE | nephrotic syndrome, type 7 | AR |
| ARHGDIA | nephrotic syndrome, type 8 | AR |
| SCARB2 | epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| EMP2 | nephrotic syndrome, type 10 | AR |
| LMX1B | nail-patella syndrome | AD |
| NPHS1 | nephrotic syndrome, type 1 | AR |
| CUBN | megaloblastic anemia-1, finnish type | AR |
| TRPC6 | glomerulosclerosis, focal segmental, 2 | AD |
| SGPL1 | nephrotic syndrome, type 14 | AR |
| CD2AP | glomerulosclerosis, focal segmental, 3 | |
| ACTN4 | glomerulosclerosis, focal segmental, 1 | AD |
| NPHS2 | nephrotic syndrome, type 2 | AR |
| ITGA3 | interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | AR |
| MAGI2 | nephrotic syndrome, type 15 | AR |
| SMARCAL1 | schimke immunoosseous dysplasia | AR |
| WT1 | denys-drash syndrome | AD, SMu |
| WT1 | frasier syndrome | AD, SMu |
| WT1 | meacham syndrome | |
| WT1 | mesothelioma, somatic | |
| WT1 | nephrotic syndrome, type 4 | AD |
| WT1 | wilms tumor, type 1 | AD, SMu |
| NUP107 | ?ovarian dysgenesis 6 | AR |
| NUP107 | galloway-mowat syndrome 7 | AR |
| NUP107 | nephrotic syndrome, type 11 | AR |
| MEFV | familial mediterranean fever, ad | AD |
| MEFV | familial mediterranean fever, ar | AR |
| PLCE1 | nephrotic syndrome, type 3 | AR |
| CRB2 | focal segmental glomerulosclerosis 9 | AR |
| CRB2 | ventriculomegaly with cystic kidney disease | AR |
| COQ2 | {multiple system atrophy, susceptibility to} | AD, AR |
| COQ2 | coenzyme q10 deficiency, primary, 1 | AR |
| PDSS2 | coenzyme q10 deficiency, primary, 3 | AR |
| INF2 | charcot-marie-tooth disease, dominant intermediate e | AD |
| INF2 | glomerulosclerosis, focal segmental, 5 | |
| TTC21B | nephronophthisis 12 | AD, AR |
| TTC21B | short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| NUP205 | ?nephrotic syndrome, type 13 | |
| NUP93 | nephrotic syndrome, type 12 | AR |
| COQ6 | coenzyme q10 deficiency, primary, 6 | AR |
| KANK2 | nephrotic syndrome, type 16 | AR |
| KANK2 | palmoplantar keratoderma and woolly hair | AR |
| COQ8B | nephrotic syndrome, type 9 | AR |
| ANLN | focal segmental glomerulosclerosis 8 | AD |
| WDR73 | galloway-mowat syndrome 1 | AR |
| ARHGAP24 |
Polycystic Kidney Panel
| Title | Phenotype | Inheritance |
|---|---|---|
| PKD2 | polycystic kidney disease 2 | AD |
| HNF1B | {renal cell carcinoma} | |
| HNF1B | diabetes mellitus, noninsulin-dependent | AD |
| HNF1B | renal cysts and diabetes syndrome | AD |
| NOTCH2 | alagille syndrome 2 | AD |
| NOTCH2 | hajdu-cheney syndrome | AD |
| PKD1 | polycystic kidney disease 1 | AD |
| PKHD1 | polycystic kidney disease 4, with or without hepatic disease | AR |
| BICC1 | {renal dysplasia, cystic, susceptibility to} | AD |
| Title | Phenotype | Inheritance |
|---|---|---|
| SCNN1A | ?liddle syndrome 3 | AD |
| SCNN1A | bronchiectasis with or without elevated sweat chloride 2 | AD |
| SCNN1A | pseudohypoaldosteronism, type i | AR |
| SCNN1B | bronchiectasis with or without elevated sweat chloride 1 | AD |
| SCNN1B | liddle syndrome 1 | AD |
| SCNN1B | pseudohypoaldosteronism, type i | AR |
| NR3C2 | hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | |
| NR3C2 | pseudohypoaldosteronism type i, autosomal dominant | AD |
| SCNN1G | bronchiectasis with or without elevated sweat chloride 3 | AD |
| SCNN1G | liddle syndrome 2 | AD |
| SCNN1G | pseudohypoaldosteronism, type i | AR |
| WNK4 | pseudohypoaldosteronism, type iib | AD |
| CUL3 | pseudohypoaldosteronism, type iie | AD |
| WNK1 | neuropathy, hereditary sensory and autonomic, type ii | AR |
| WNK1 | pseudohypoaldosteronism, type iic | AD |
| KLHL3 | pseudohypoaldosteronism, type iid | AD, AR |
| HSD11B2 | apparent mineralocorticoid excess | AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| SLC4A1 | [blood group, diego] | |
| SLC4A1 | [blood group, froese] | |
| SLC4A1 | [blood group, swann] | |
| SLC4A1 | [blood group, waldner] | |
| SLC4A1 | [blood group, wright] | |
| SLC4A1 | [malaria, resistance to] | |
| SLC4A1 | cryohydrocytosis | AD |
| SLC4A1 | ovalocytosis, sa type | AD |
| SLC4A1 | renal tubular acidosis, distal, ad | AD |
| SLC4A1 | renal tubular acidosis, distal, ar | AR |
| SLC4A1 | spherocytosis, type 4 | AD |
| SLC34A1 | ?fanconi renotubular syndrome 2 | AR |
| SLC34A1 | hypercalcemia, infantile, 2 | AR |
| SLC34A1 | nephrolithiasis/osteoporosis, hypophosphatemic, 1 | AD |
| ATP6V1B1 | renal tubular acidosis with deafness | AR |
| HNF4A | {diabetes mellitus, noninsulin-dependent} | AD |
| HNF4A | fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| HNF4A | mody, type i | AD |
| SLC4A4 | renal tubular acidosis, proximal, with ocular abnormalities | AR |
| ATP6V0A4 | renal tubular acidosis, distal, autosomal recessive | |
| EHHADH | ?fanconi renotubular syndrome 3 | AD |
| CA2 | osteopetrosis, autosomal recessive 3, with renal tubular acidosis | AR |
Enuresis
| Title | Phenotype | Inheritance |
|---|---|---|
| AQP2 | diabetes insipidus,nephrogenic | AD, AR |
| GUCY1B2 | ||
| GNAZ |
Renal Scarring After UTI
| Title | Phenotype | Inheritance |
|---|---|---|
| ACE-D | ||
| TGF-β1 | {Cystic fibrosis lung disease, modifier of} | AR |
| TGF-β1 | Camurati-Engelmann disease | AD |
| TGF-β1 | Inflammatory bowel disease, immunodeficiency, and encephalopathy | AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| STAT3 | autoimmune disease, multisystem, infantile-onset, 1 | AD |
| STAT3 | hyper-ige recurrent infection syndrome | AD |
| PGM3 | immunodeficiency 23 | AR |
| TYK2 | immunodeficiency 35 | AR |
| SPINK5 | netherton syndrome | AR |
| DOCK8 | hyper-ige recurrent infection syndrome, autosomal recessive | AR |
Chronic Urticaria
| Title | Phenotype | Inheritance |
|---|---|---|
| ALOX5 | {asthma, diminished response to antileukotriene treatment in} | AD |
| ALOX5 | {atherosclerosis, susceptibility to} | |
| LTC4S | leukotriene c4 synthase deficiency | AR |
| PTGER4 |
HEMA
Inherited Coagulation Bleeding Disorders
| Title | Phenotype | Inheritance |
|---|---|---|
| F11 | factor xi deficiency, autosomal dominant | |
| F11 | factor xi deficiency, autosomal recessive | |
| F8 | hemophilia a | XLR |
| F9 | hemophilia b | XLR |
| F9 | thrombophilia, x-linked, due to factor ix defect | |
| F2 | dysprothrombinemia | AR |
| F2 | hypoprothrombinemia | AR |
| F2 | thrombophilia due to thrombin defect | AD |
| F5 | factor v deficiency | AR |
| F5 | thrombophilia due to activated protein c resistance | AD |
| F7 | factor vii deficiency | AR |
| GGCX | pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency | |
| GGCX | vitamin k-dependent clotting factors, combined deficiency of, 1 | AR |
| VKORC1 | vitamin k-dependent clotting factors, combined deficiency of, 2 | |
| VKORC1 | warfarin resistance | AD |
| F10 | factor x deficiency | AR |
| LMAN1 | combined factor v and viii deficiency | AR |
| MCFD2 | factor v and factor viii, combined deficiency of | |
| FGG | afibrinogenemia, congenital | AR |
| FGG | dysfibrinogenemia, congenital | |
| FGG | hypodysfibrinogenemia | |
| FGG | hypofibrinogenemia, congenital | AR |
| FGA | afibrinogenemia, congenital | AR |
| FGA | dysfibrinogenemia, congenital | |
| FGA | hypodysfibrinogenemia, congenital | |
| FGB | afibrinogenemia, congenital | AR |
| FGB | dysfibrinogenemia, congenital | |
| FGB | hypofibrinogenemia, congenital | AR |
| F13B | factor xiiib deficiency | AR |
| F13A1 | factor xiiia deficiency | AR |
| PLAT | hyperfibrinolysis, familial, due to increased release of plat | |
| PLAT | thrombophilia, familial, due to decreased release of plat | |
| PLG | dysplasminogenemia | AR |
| PLG | plasminogen deficiency, type i | AR |
| TFPI | Thrombophilia | AD |
| VWF | von willebrand disease, type 1 | AD |
| VWF | von willebrand disease, types 2a, 2b, 2m, and 2n | AD, AR |
| VWF | von willibrand disease, type 3 | AR |
Erythrocytes, Anemia
| Title | Phenotype | Inheritance |
|---|---|---|
| AK1 | hemolytic anemia due to adenylate kinase deficiency | AR |
| SLC4A1 | cryohydrocytosis | AD |
| SLC4A1 | ovalocytosis, sa type | AD |
| SLC4A1 | renal tubular acidosis, distal, ad | AD |
| SLC4A1 | renal tubular acidosis, distal, ar | AR |
| SLC4A1 | spherocytosis, type 4 | AD |
| EPB41 | elliptocytosis-1 | AD, AR |
| EPO | ?diamond-blackfan anemia-like | AR |
| EPO | erythrocytosis, familial, 5 | AD |
| EPOR | [erythrocytosis, familial, 1] | AD |
| GSR | hemolytic anemia due to glutathione reductase deficiency | AR |
| HK1 | hemolytic anemia due to hexokinase deficiency | AR |
| JAK2 | erythrocytosis, somatic | |
| JAK2 | myelofibrosis, somatic | |
| JAK2 | polycythemia vera, somatic | |
| JAK2 | thrombocythemia 3 | AD, SMu |
| HBB | delta-beta thalassemia | AD |
| HBB | erythrocytosis 6 | |
| HBB | heinz body anemia | AD |
| HBB | hereditary persistence of fetal hemoglobin | AD |
| HBB | methmoglobinemia, beta type | |
| HBB | sickle cell anemia | AR |
| HBB | thalassemia-beta, dominant inclusion-body | |
| HBB | thalassemia, beta | |
| GPI | hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
| RPL35A | diamond-blackfan anemia 5 | AD |
| RHAG | anemia, hemolytic, rh-null, regulator type | AD |
| RHAG | overhydrated hereditary stomatocytosis | AD |
| SPTA1 | elliptocytosis-2 | AD |
| SPTA1 | pyropoikilocytosis | AR |
| SPTA1 | spherocytosis, type 3 | AR |
| SPTB | anemia, neonatal hemolytic, fatal or near-fatal | |
| SPTB | elliptocytosis-3 | |
| SPTB | spherocytosis, type 2 | AD |
| EPB42 | spherocytosis, type 5 | |
| TPI1 | hemolytic anemia due to triosephosphate isomerase deficiency | AR |
| ABCB7 | anemia, sideroblastic, with ataxia | XLR |
| TSR2 | ?diamond-blackfan anemia 14 with mandibulofacial dysostosis | XLR |
| ALAS2 | anemia, sideroblastic, 1 | XLR |
| ALAS2 | protoporphyria, erythropoietic, x-linked | XL |
| GATA1 | anemia, x-linked, with/without neutropenia and/or platelet abnormalities | XLR |
| GATA1 | thrombocytopenia with beta-thalassemia, x-linked | XLR |
| GATA1 | thrombocytopenia, x-linked, with or without dyserythropoietic anemia | XLR |
| PGK1 | phosphoglycerate kinase 1 deficiency | XLR |
| SLC11A2 | anemia, hypochromic microcytic, with iron overload 1 | AR |
| HSPA9 | anemia, sideroblastic, 4 | AD |
| HSPA9 | even-plus syndrome | AR |
| KLF1 | [hereditary persistence of fetal hemoglobin] | |
| KLF1 | dyserythropoietic anemia, congenital, type iv | AD |
| G6PD | hemolytic anemia, g6pd deficient (favism) | XLD |
| GSS | glutathione synthetase deficiency | AR |
| GSS | hemolytic anemia due to glutathione synthetase deficiency | AR |
| RPS24 | diamond-blackfan anemia 3 | AD |
| KCNN4 | dehydrated hereditary stomatocytosis 2 | AD |
| RPS19 | diamond-blackfan anemia 1 | AD |
| EPAS1 | erythrocytosis, familial, 4 | |
| RPS10 | diamond-blackfan anemia 9 | AD |
| RPL5 | diamond-blackfan anemia 6 | AD |
| RPS15A | ?diamond-blackfan anemia 20 | AD |
| RPS26 | diamond-blackfan anemia 10 | AD |
| RPS27 | ?diamond-blackfan anemia 17 | AD |
| RPL26 | ?diamond-blackfan anemia 11 | AD |
| RPS28 | diamond blackfan anemia 15 with mandibulofacial dysostosis | AD |
| RPS29 | diamond-blackfan anemia 13 | AD |
| RPL11 | diamond-blackfan anemia 7 | AD |
| RPS7 | diamond-blackfan anemia 8 | AD |
| RPL15 | ?diamond-blackfan anemia 12 | AD |
| RPL18 | ?diamond-blackfan anemia 18 | AD |
| SH2B3 | erythrocytosis, somatic | |
| SH2B3 | myelofibrosis, somatic | |
| SH2B3 | thrombocythemia, somatic | |
| NT5C3A | anemia, hemolytic, due to umph1 deficiency | AR |
| EGLN1 | erythrocytosis, familial, 3 | AD |
| GCLC | hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency | AR |
| UROS | porphyria, congenital erythropoietic | AR |
| CDAN1 | dyserythropoietic anemia, congenital, type ia | AR |
| RPL27 | ?diamond-blackfan anemia 16 | AD |
| COX4I2 | exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
| PUS1 | myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| VHL | erythrocytosis, familial, 2 | AR |
| VHL | von hippel-lindau syndrome | AD |
| PKLR | adenosine triphosphate, elevated, of erythrocytes | AD |
| PKLR | pyruvate kinase deficiency | AR |
| TMPRSS6 | iron-refractory iron deficiency anemia | AR |
| GLRX5 | anemia, sideroblastic, 3, pyridoxine-refractory | AR |
| SEC23B | dyserythropoietic anemia, congenital, type ii | AR |
| SLC25A38 | anemia, sideroblastic, 2, pyridoxine-refractory | AR |
| YARS2 | myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
| PIEZO1 | dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | AD |
| PIEZO1 | lymphatic malformation 6 | AR |
| TRNT1 | retinitis pigmentosa and erythrocytic microcytosis | AR |
| TRNT1 | sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay | AR |
| ANK1 | spherocytosis, type 1 | AD, AR |
| BPGM | erythrocytosis, familial, 8 | AR |
| C15ORF41 | dyserythropoietic anemia, congenital, type ib | AR |
| RPL35 | ?diamond-blackfan anemia 19 | |
| KIF23 | Cytopenias and congenital anaemias | AD |
| RPL31 | Haematological malignancies cancer susceptibility | AD |
| Title | Phenotype | Inheritance |
|---|---|---|
| ERCC4 | fanconi anemia, complementation group q | AR |
| GATA2 | {leukemia, acute myeloid, susceptibility to} | AD, SMu |
| GATA2 | {myelodysplastic syndrome, susceptibility to} | |
| MPL | myelofibrosis with myeloid metaplasia, somatic | |
| MPL | thrombocytopenia, congenital amegakaryocytic | AR |
| RAD51 | ?fanconi anemia, complementation group r | AD |
| TERT | {dyskeratosis congenita, autosomal dominant 2} | AD, AR |
| TERT | {dyskeratosis congenita, autosomal recessive 4} | AD, AR |
| TERT | {leukemia, acute myeloid} | AD, SMu |
| DKC1 | dyskeratosis congenita, x-linked | XLR |
| FANCB | fanconi anemia, complementation group b | XLR |
| WAS | neutropenia, severe congenital, x-linked | XLR |
| WAS | thrombocytopenia, x-linked | XLR |
| WAS | thrombocytopenia, x-linked, intermittent | XLR |
| WAS | wiskott-aldrich syndrome | XLR |
| BRCA2 | {breast cancer, male, susceptibility to} | AD, SMu |
| BRCA2 | {breast-ovarian cancer, familial, 2} | AD |
| BRCA2 | {glioblastoma 3} | AR |
| BRCA2 | {medulloblastoma} | AD, AR, SMu |
| BRCA2 | fanconi anemia, complementation group d1 | AR |
| BRCA2 | wilms tumor | AD, SMu |
| XRCC2 | ?fanconi anemia, complementation group u | AR |
| SRP72 | bone marrow failure syndrome 1 | AD |
| WIPF1 | ?wiskott-aldrich syndrome 2 | |
| TERC | {aplastic anemia} | AD |
| TERC | dyskeratosis congenita, autosomal dominant 1 | AD |
| NBN | aplastic anemia | |
| NBN | leukemia, acute lymphoblastic | |
| RAD51C | fanconi anemia, complementation group o | AR |
| FANCG | fanconi anemia, complementation group g | |
| MAD2L2 | ?fanconi anemia, complementation group v | AR |
| PARN | dyskeratosis congenita, autosomal recessive 6 | AR |
| TINF2 | dyskeratosis congenita, autosomal dominant 3 | AD |
| TINF2 | revesz syndrome | AD |
| BRIP1 | fanconi anemia, complementation group j | |
| LYST | chediak-higashi syndrome | AR |
| FANCA | fanconi anemia, complementation group a | AR |
| SBDS | {aplastic anemia, susceptibility to} | |
| SBDS | shwachman-diamond syndrome | AR |
| FANCL | fanconi anemia, complementation group l | AR |
| RTEL1 | dyskeratosis congenita, autosomal dominant 4 | AD, AR |
| RTEL1 | dyskeratosis congenita, autosomal recessive 5 | AD, AR |
| PALB2 | fanconi anemia, complementation group n | |
| UBE2T | fanconi anemia, complementation group t | AR |
| SLC46A1 | folate malabsorption, hereditary | AR |
| FANCI | fanconi anemia, complementation group i | AR |
| WRAP53 | dyskeratosis congenita, autosomal recessive 3 | AR |
| SLX4 | fanconi anemia, complementation group p | AR |
| TCN2 | transcobalamin ii deficiency | AR |
| FANCF | fanconi anemia, complementation group f | |
| FANCC | fanconi anemia, complementation group c | AR |
| FANCE | fanconi anemia, complementation group e | AR |
| FANCD2 | fanconi anemia, complementation group d2 | AR |
| ERCC6L2 | bone marrow failure syndrome 2 | AR |
| DNAJC21 | bone marrow failure syndrome 3 | AR |
| EFTUD1 | Shwachman-Diamond syndrome 2 | AR |
| NHP2 | Dyskeratosis congenita, autosomal recessive 2 | AR |
| NOP10 | Dyskeratosis congenita, autosomal recessive 1 | AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| DHFR | megaloblastic anemia due to dihydrofolate reductase deficiency | AR |
| MTHFD1 | {neural tube defects, folate-sensitive, susceptibility to} | AR |
| MTHFD1 | combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | AR |
| CUBN | megaloblastic anemia-1, finnish type | AR |
| SLC19A2 | thiamine-responsive megaloblastic anemia syndrome | AR |
| AMN | megaloblastic anemia-1, norwegian type | AR |
| GIF | intrinsic factor deficiency | AR |
| SLC46A1 | folate malabsorption, hereditary | AR |
| TCN2 | transcobalamin ii deficiency | AR |
| Title | Phenotype | Inheritance |
|---|---|---|
| ALK | {neuroblastoma, susceptibility to, 3} | |
| BRCA1 | fanconi anemia, complementation group s | AR |
| MLH1 | colorectal cancer, hereditary nonpolyposis, type 2 | |
| MLH1 | mismatch repair cancer syndrome | AR |
| CEBPA | ?leukemia, acute myeloid | AD, SMu |
| CEBPA | leukemia, acute myeloid, somatic | |
| GATA2 | {leukemia, acute myeloid, susceptibility to} | AD, SMu |
| GATA2 | {myelodysplastic syndrome, susceptibility to} | |
| RUNX1 | leukemia, acute myeloid | AD, SMu |
| RUNX1 | platelet disorder, familial, with associated myeloid malignancy | AD |
| MET | hepatocellular carcinoma, childhood type, somatic | |
| KIT | germ cell tumors, somatic | |
| KIT | leukemia, acute myeloid, somatic | |
| RET | multiple endocrine neoplasia iia | AD |
| RET | multiple endocrine neoplasia iib | AD |
| PRF1 | aplastic anemia | |
| PRF1 | hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| PRF1 | lymphoma, non-hodgkin | |
| PRKAR1A | adrenocortical tumor, somatic | |
| TSC2 | tuberous sclerosis-2 | AD |
| TP53 | {adrenocortical carcinoma, pediatric} | AD |
| TP53 | {osteosarcoma} | SMu |
| TP53 | bone marrow failure syndrome 5 | AD |
| TP53 | hepatocellular carcinoma, somatic | |
| TP53 | li-fraumeni syndrome | AD |
| GPC3 | wilms tumor, somatic | |
| FANCB | fanconi anemia, complementation group b | XLR |
| BRCA2 | {breast cancer, male, susceptibility to} | AD, SMu |
| BRCA2 | {glioblastoma 3} | AR |
| BRCA2 | {medulloblastoma} | AD, AR, SMu |
| BRCA2 | fanconi anemia, complementation group d1 | AR |
| BRCA2 | wilms tumor | AD, SMu |
| CDKN2A | {melanoma and neural system tumor syndrome} | AD |
| PMS2 | mismatch repair cancer syndrome | AR |
| CDKN1C | beckwith-wiedemann syndrome | AD |
| SMARCB1 | {rhabdoid tumor predisposition syndrome 1} | AD |
| SMARCB1 | rhabdoid tumors, somatic | |
| PTEN | {meningioma} | AD |
| PTEN | cowden syndrome 1 | AD |
| STK11 | testicular tumor, somatic | |
| NBN | leukemia, acute lymphoblastic | |
| SDHD | paragangliomas 1, with or without deafness | AD |
| BAP1 | tumor predisposition syndrome | AD |
| FANCG | fanconi anemia, complementation group g | |
| SMARCA4 | {rhabdoid tumor predisposition syndrome 2} | AD |
| RECQL4 | rothmund-thomson syndrome, type 2, | AR |
| BRIP1 | fanconi anemia, complementation group j | |
| DICER1 | pleuropulmonary blastoma | AD |
| SUFU | medulloblastoma, desmoplastic | AD, AR, SMu |
| FANCA | fanconi anemia, complementation group a | AR |
| WT1 | denys-drash syndrome | AD, SMu |
| FLCN | birt-hogg-dube syndrome | AD |
| SBDS | shwachman-diamond syndrome | AR |
| NF2 | neurofibromatosis, type 2 | AD |
| FANCL | fanconi anemia, complementation group l | AR |
| VHL | von hippel-lindau syndrome | AD |
| MSH2 | colorectal cancer, hereditary nonpolyposis, type 1 | AD |
| PALB2 | fanconi anemia, complementation group n | |
| FANCI | fanconi anemia, complementation group i | AR |
| APC | adenomatous polyposis coli | AD |
| APC | brain tumor-polyposis syndrome 2 | AD |
| APC | gardner syndrome | AD |
| NF1 | leukemia, juvenile myelomonocytic | AD, SMu |
| NF1 | neurofibromatosis, familial spinal | AD |
| NF1 | neurofibromatosis, type 1 | AD |
| TMEM127 | {pheochromocytoma, susceptibility to} | AD |
| MEN1 | multiple endocrine neoplasia 1 | AD |
| FANCF | fanconi anemia, complementation group f | |
| FANCC | fanconi anemia, complementation group c | AR |
| FANCE | fanconi anemia, complementation group e | AR |
| FANCD2 | fanconi anemia, complementation group d2 | AR |
| RB1 | retinoblastoma | AD, SMu |
| RB1 | retinoblastoma, trilateral | AD, SMu |
| DIS3L2 | perlman syndrome | AR |
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