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The ABCB7 gene is associated with X-linked sideroblastic anemia and spinocerebellar ataxia (ASAT) (MedGen UID: 335078).
The ABCG5 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).
The ABCG8 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).
The ACD gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 904824).
The ACTN1 gene is associated with autosomal dominant ACTN1-related thrombocytopenia (MedGen UID: 767577).
The ADA gene is associated with autosomal recessive severe combined immunodeficiency due to adenosine deaminase deficiency (MedGen UID: 354935).
The ADA2 gene is associated with autosomal recessive deficiency of adenosine deaminase 2 (DADA2) (MedGen UID: 1659861).
The ADAMTS13 gene is associated with Upshaw-Schulman syndrome, also known as autosomal recessive congenital thrombotic thrombocytopenic purpura (TTP) due to ADAMTS13 deficiency (MedGen UID: 224783).
The AK1 gene is associated with autosomal recessive hemolytic anemia due to adenylate kinase deficiency (MedGen UID: 390802).
The AK2 gene is associated with autosomal recessive reticular dysgenesis (MedGen UID: 124417).
The ALAS2 gene is associated with X-linked sideroblastic anemia (MedGen UID:1638704) and X-linked erythropoietic protoporphyria (MedGen UID: 394385).
The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895).
The ANK1 gene is associated with autosomal dominant spherocytosis (MedGen UID: 382302). Additionally, the ANK1 gene has preliminary evidence supporting a correlation with autosomal recessive spherocytosis (PMID: 17327413).
The ANKRD26 gene is associated with isolated, non-syndromic autosomal dominant thrombocytopenia (MedGen UID: 349976). Additionally, the ANKRD26 gene has preliminary evidence supporting a correlation with autosomal dominant familial leukemia (PMID: 24628296, 24030261).
The ANO6 gene is associated with autosomal recessive Scott syndrome (MedGen UID: 167107).
The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 2 (MedGen UID: 374912).
The ARPC1B gene is associated with autosomal recessive ARPC1B deficiency (MedGen UID: 1618052).
The ATP4A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant autism spectrum disorder (ASD) (PMID: 25363768) and autosomal recessive gastric neuroendocrine tumor (PMID: 28474257, 25678551).
The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).
The ATR gene is associated with autosomal recessive Seckel syndrome 1 (MedGen UID: 830512). Additionally, the ATR gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to prostate (PMID: 27433846) and oropharyngeal cancer (PMID: 22341969).
The BLOC1S3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854728).
The BLOC1S6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 9 (MedGen UID: 481656).
The BPGM gene is associated with autosomal recessive erythrocytosis due to bisphosphoglycerate mutase deficiency (MedGen UID: 489898).
The BRCA1 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793). Additionally, the BRCA1 gene has preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (MedGen UID: 1632414).
The BRCA2 gene is associated with autosomal dominant hereditary breast and ovarian cancer (HBOC) syndrome (MedGen UID: 151793) and autosomal recessive Fanconi anemia, type D1 (FA-D1) (MedGen UID: 325420).
The BRIP1 gene is associated with autosomal dominant predisposition to ovarian cancer (PMID: 30733081) and autosomal recessive Fanconi anemia (MedGen UID: 323015). Additionally, the BRIP1 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast and prostate cancer (PMID: 17033622, 28418444, 30733081, 32708810, 32853339).
The C15ORF41 gene is associated with autosomal recessive C15ORF41-related congenital dyserythropoietic anemia (MedGen UID: 816515).
The C3 gene is associated with autosomal recessive C3 deficiency (MedGen UID: 462421), autosomal dominant atypical hemolytic uremic syndrome 5 (aHUS5) (MedGen UID: 442875) and autosomal dominant C3 glomerulonephritis (C3GN) (PMID: 26471127).
The CD19 gene is associated with autosomal recessive common variable immune deficiency (CVID) due to CD19 deficiency (MedGen UID: 462088).
The CD40 gene is associated with autosomal recessive hyper IgM syndrome (HIGM) (MedGen UID: 328419).
The CD40LG gene is associated with X-linked hyper-IgM syndrome (HIGM) (MedGen UID: 96019).
The CD46 gene is associated with autosomal dominant and recessive atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414167).
The CD55 gene is associated with autosomal recessive complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy syndrome (MedGen UID: 1622548).
The CD59 gene is associated with autosomal recessive CD59-mediated hemolytic anemia, with or without immune-mediated polyneuropathy (HACD59) (MedGen UID: 393582).
The CD81 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive common variable immunodeficiency due to CD81 deficiency (MedGen UID: 462091; PMID: 20237408).
The CDAN1 gene is associated with autosomal recessive congenital dyserythropoietic anemia (MedGen UID: 82891).
The CDC42 gene is associated with autosomal dominant Takenouchi-Kosaki syndrome (MedGen UID: 906646).
The CEBPE gene is associated with autosomal recessive neutrophil-specific granule deficiency (MedGen UID: 140766).
The CFB gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 416691). In addition, there is preliminary evidence supporting a correlation with autosomal recessive complement factor B deficiency (CFBD) (PMID: 24152280; MedGen UID: 816280).
The CFH gene is associated with autosomal dominant atypical hemolytic uremic syndrome (MedGen UID: 412743) and autosomal recessive complement factor H deficiency (MedGen UID: 96024). Additionally, the CFH gene has preliminary evidence supporting a correlation with basal laminar drusen (MedGen UID: 152676) and age-related macular degeneration (MedGen UID: 339914).
The CFI gene is associated with autosomal recessive complement factor I deficiency (PMID: 31231365) and autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414542). Additionally, the CFI gene has preliminary evidence supporting a correlation with autosomal dominant age-related macular degeneration susceptibility (MedGen UID: 615439).
The CLPB gene is associated with autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 907853) and with an autosomal dominant neutropenia and neurodevelopmental syndrome (MedGen UID: 990522).
The COL4A1 gene is associated with a spectrum of overlapping autosomal dominant conditions including brain small vessel disease with or without ocular anomalies (BSVD1) (MedGen UID: 1647320), which is sometimes referred to as porencephaly, hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) (MedGen UID: 382033), tortuosity of retinal arteries (RATOR) (MedGen UID: 356748), and pontine microangiopathy and leukoencephalopathy (PADMAL) (MedGen UID: 1684781). Additionally, the COL4A1 gene has preliminary evidence supporting a correlation with autosomal recessive brain small vessel disease with ocular anomalies (PMID: 32042920, 33491999).
The CP gene is associated with autosomal recessive aceruloplasminemia (MedGen UID: 168057). Additionally, the CP gene has preliminary evidence supporting a correlation with autosomal dominant aceruloplasminemia (PMID: 10206163).
The CSF3R gene is associated with autosomal dominant hereditary neutrophilia (MedGen UID: 154252) and autosomal recessive severe congenital neutropenia due to CSF3R deficiency (MedGen UID: 889011).
The CTC1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts type 1 (CRMCC1), also known as Coats plus syndrome (MedGen UID: 1636142).
The CXCR4 gene is associated with autosomal dominant WHIM (Warts, Hypogammaglobulinemia, Infections, and Myelokathexis) syndrome (MedGen UID: 96875).
The CYB5R3 gene is associated with autosomal recessive methemoglobinemia due to NADH-cytochrome b5 reductase deficiency (MedGen UID: 75661).
The CYCS gene is associated with autosomal dominant thrombocytopenia (MedGen UID: 394329).
The DDX41 gene is associated with autosomal dominant familial myeloproliferative/lymphoproliferative neoplasms (MPLPF) (MedGen UID: 895780).
The DGKE gene is associated with autosomal recessive atypical hemolytic uremic syndrome 7 (AHUS7) and nephrotic syndrome, type 7 (NPHS7) (MedGen UID: 767244).
The DIAPH1 gene is associated with autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995) and autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797).
The DKC1 gene is associated with X-linked dyskeratosis congenita spectrum disorders (DC) (MedGen UID: 216941).
The DNAJC21 gene is associated with autosomal recessive Shwachman-Diamond syndrome due to DNAJC21 deficiency (MedGen UID: 1640046).
The DTNBP1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 481386).
The EFL1 gene is associated with autosomal recessive Shwachman-Diamond syndrome (MedGen UID: 1634617).
The EGLN1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 377868). Additionally, the EGLN1 gene has preliminary evidene supporting a correlation with autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (PMID: 25263965, 19092153).
The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).
The EPAS1 gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 435867). Additionally, the EPAS1 gene has preliminary evidence supporting a correlation with autosomal dominant paraganglioma-pheochromocytoma syndrome (PMID: 30877234, 31185588).
The EPB41 gene is associated with autosomal dominant and recessive hereditary elliptocytosis (MedGen UID: 394841).
The EPB42 gene is associated with autosomal recessive spherocytosis (MedGen UID: 52450).
The EPOR gene is associated with autosomal dominant familial erythrocytosis (MedGen UID: 343583).
The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). Additionally, the ERCC4 gene has preliminary evidence supporting a correlation with autosomal recessive Cockayne syndrome (PMID: 23623389).
The ERCC6L2 gene is associated with autosomal recessive ERCC6L2 (Hebo) deficiency (MedGen UID: 816680).
The ETV6 gene is associated with autosomal dominant thrombocytopenia (MedGen UID: 863974).
The F2 gene is associated with autosomal dominant prothrombin-related thrombophilia (MedGen UID: 463623) and autosomal recessive prothrombin deficiency (MedGen UID: 5714).
The F5 gene is associated with thrombophilia due to activated protein C resistance (MedGen UID: 396074), autosomal dominant short FV bleeding disorder (PMID: 31793409) and autosomal recessive factor V deficiency (MedGen UID: 4633).
The F9 gene is associated with X-linked recessive factor IX deficiency (hemophilia B) (MedGen UID: 945). Additionally, the F9 gene has preliminary evidence supporting a correlation with X-linked recessive factor IX thrombophilia (MedGen UID: 411730).
The FANCA gene is associated with autosomal recessive Fanconi anemia, type A (FA-A) (MedGen UID: 483333).
The FANCB gene is associated with X-linked Fanconi anemia, type B (FA-B) (MedGen UID: 336901).
The FANCC gene is associated with autosomal recessive Fanconi anemia, type C (FA-C) (MedGen UID: 483324). Additionally, the FANCC gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast, ovarian, and pancreatic cancer (PMID: 30733081, 15695377, 12750283).
The FANCD2 gene is associated with autosomal recessive Fanconi anemia, type D2 (FA-D2) (MedGen UID: 463627).
The FANCE gene is associated with autosomal recessive Fanconi anemia, type E (FA-E) (MedGen UID: 463628).
The FANCF gene is associated with autosomal recessive Fanconi anemia, type F (FA-F) (MedGen UID: 448251).
The FANCG gene is associated with autosomal recessive Fanconi anemia, type G (FA-G) (MedGen UID: 433393).
The FANCI gene is associated with autosomal recessive Fanconi anemia, type I (FA-I) (MedGen UID: 323016).
The FANCL gene is associated with autosomal recessive Fanconi anemia, type L (FA-L) (MedGen UID: 433302).
The FANCM gene is associated with an autosomal recessive condition characterized by an increased risk for malignancy and infertility (OMIM: 618086). Additionally, the FANCM gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to breast cancer (PMID: 23409019, 25288723) and autosomal recessive Fanconi anemia (PMID: 16116422, 19423727, 21681190).
The FECH gene is associated with autosomal recessive erythropoietic protoporphyria (MedGen UID: 1643471).
The FERMT3 gene is associated with autosomal recessive leukocyte adhesion deficiency, type 3 (LAD3) (MedGen UID: 411605).
The FGB gene is associated with autosomal recessive and autosomal dominant hereditary fibrinogen abnormalities (MedGen UID: 749036, 82901).
The FGG gene is associated with autosomal recessive and autosomal dominant hereditary fibrinogen abnormalities (MedGen UID: 749036, 82901).
The FLI1 gene is associated with autosomal dominant platelet-type thrombocytopenia (MedGen UID: 1386863). Additionally, the FLI1 gene has preliminary evidence supporting a correlation with autosomal recessive platelet-type thrombocytopenia (PMID: 26316623).
The FTH1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hemochromatosis (MedGen UID: 507367).
The FTL gene is associated with autosomal dominant neurodegeneration with neuroferritinopathy (MedGen UID: 381211) and hereditary hyperferritinemia-cataract syndrome (HHCS) (MedGen UID: 318812). Additionally, the FTL gene has preliminary evidence supporting a correlation with L-ferritin deficiency (MedGen UID: 816420).
The G6PC gene is associated with autosomal recessive glycogen storage disease type Ia (GSDIa) (MedGen UID: 433536).
The G6PC3 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 436454).
The G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 403555).
The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).
The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660).
The GCLC gene is associated with autosomal recessive hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (MedGen UID: 347272).
The GFI1 gene is associated with autosomal dominant severe congenital neutropenia due to GFI1 deficiency (MedGen UID: 413975).
The GLRX5 gene is associated with autosomal recessive congenital sideroblastic anemia (MedGen UID: 895975). Additionally, the GLRX5 gene has preliminary evidence supporting a correlation with childhood-onset spasticity with hyperglycinemia (MedGen UID: 905660)
The GP1BA gene is associated with autosomal recessive Bernard-Soulier syndrome (MedGen UID: 2212), autosomal dominant platelet type von Willebrand disease (MedGen UID: 226914), and autosomal dominant inherited macrothrombocytopenia (PMID: 27291889, 30127546).
The GP6 gene is associated with autosomal recessive glycoprotein VI deficiency (MedGen UID: 481750).
The GP9 gene is associated with autosomal recessive Bernard-Soulier syndrome (BSS) (MedGen UID: 2212)
The GPI gene is associated with autosomal recessive glucose-6-phosphate isomerase (GPI) deficiency (MedGen UID: 462080).
The GSR gene is associated with autosomal recessive hemolytic anemia due to glutathione reductase deficiency (MedGen UID: 945947).
The GSS gene is associated with autosomal recessive glutathione synthetase deficiency (MedGen UID: 97988).
The GYPC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with hereditary elliptocytosis (MedGen UID: 714546).
The HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).
The HAX1 gene is associated with autosomal recessive severe congenital neutropenia due to HAX1 deficiency (MedGen UID: 1713491).
The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HFE-HH) (MedGen UID: 140272).
The HJV gene (formerly known as HFE2) is associated with autosomal recessive hemochromatosis type 2A (HFE2A), also known as juvenile hemochromatosis (MedGen UID: 356321).
The HK1 gene is associated with autosomal recessive hexokinase deficiency (MedGen UID: 461693), autosomal dominant retinitis pigmentosa (RP) (MedGen UID: 1386200), and an autosomal dominant neurodevelopmental syndrome (MedGen UID: 1684774). Additionally, the HK1 gene has preliminary evidence supporting a correlation with autosomal dominant hexokinase deficiency (PMID: 27282571) and autosomal recessive Charcot-Marie-Tooth 4A (CMT4A) (PMID: 23996628).
The HMOX1 gene is associated with autosomal recessive heme oxygenase 1 deficiency (HMOX1D) (MedGen UID: 333882).
The HPS1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 1 (HPS1) (MedGen UID: 419514).
The HPS3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 3 (HPS3) (MedGen UID: 854708).
The HPS4 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 483344).
The HPS5 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854711).
The HPS6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854714).
The HTRA2 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 934617).
The HYOU1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive HYOU1-related immunodeficiency and hypoglycemia (MedGen UID: 383874).
The INF2 gene is associated with autosomal dominant intermediate Charcot-Marie-Tooth disease type E (CMT-DIE) (MedGen UID: 482475) and focal segmental glomerulosclerosis (FSGS5) (MedGen UID: 413315).
The ITGA2B gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736) and autosomal dominant macrothrombocytopenia (MedGen UID: 348293).
The ITGB3 gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736) and autosomal dominant macrothrombocytopenia (MedGen UID: 348293).
The JAGN1 gene is associated with autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (MedGen UID: 863391).
The JAK2 gene is associated with autosomal dominant thrombocythemia (MedGen UID: 482755). The c.1849G>T (p.Val617Phe) variant in the JAK2 gene is associated with myeloproliferative disorders, although it has only been found as a somatic change (PMID: 15920007, 15781101, 15858187, 15793561, 16603627). Additionally, the JAK2 gene has preliminary evidence supporting a correlation with autosomal dominant autism (PMID: 28191890).
The KCNN4 gene is associated with autosomal dominant xerocytosis (MedGen UID: 1638271).
The KDM1A gene is associated with an autosomal dominant neurodevelopmental condition (MedGen UID: 895943).
The KIF23 gene is associated with autosomal dominant congenital dyserythropoietic anemia type III (PMID: 23570799). Additionally, the KIF23 gene has preliminary evidence supporting a correlation with autosomal recessive intellectual disability and microcephaly (PMID: 26539891).
The KIT gene is associated with autosomal dominant piebaldism (MedGen UID: 36361), gastrointestinal stromal tumors (GIST) (MedGen UID: 116049), and familial mastocytosis (MedGen UID: 9902).
The KLF1 gene is associated with autosomal dominant congenital dyserythropoietic anemia (MedGen UID: 462276) and autosomal recessive congenital hemolytic anemia (PMID: 24443441, 34227100).
The LAMTOR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive LAMTOR2 deficiency (PMID: 17195838).
The LARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 815435) and hydrops, lactic acidosis, and sideroblastic anemia (HLASA) (MedGen UID: 934728).
The LIG4 gene is associated with autosomal recessive LIG4 syndrome (MedGen UID: 339855).
The LPIN2 gene is associated with autosomal recessive Majeed syndrome (MedGen UID: 351273).
The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).
The MAD2L2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi Anemia (PMID: 27500492).
The MBD4 gene is associated with autosomal recessive MBD4-associated neoplasia syndrome (MANS) (MedGen UID: 995533). Additionally, the MBD4 gene has preliminary evidence supporting a correlation with autosomal dominant predisposition to uveal melanoma (MedGen UID: 376198).
The MECOM gene is associated with autosomal dominant radioulnar synostosis with amegakaryocytic thrombocytopenia (MedGen UID: 901732, 29540340).
The MMACHC gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).
The MPL gene is associated with autosomal dominant essential thrombocythemia (MedGen UID: 11797) and autosomal recessive congenital amegakaryocytic thrombocytopenia (MedGen UID: 272171).
The MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).
The MYH9 gene is associated with autosomal dominant MYH9-related disorders (MYH9RD) (MedGen UID: 1704278) and nonsyndromic deafness (MedGen UID: 350942).
The MYSM1 gene is associated with autosomal recessive MYSM1 deficiency (MedGen UID: 922565).
The NAF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant telomere biology disorders (PMID: 27510903).
The NDUFB11 gene is associated with X-linked recessive myopathy, lactic acidosis and sideroblastic anemia (MLASA) (PMID: 27488349), X-linked dominant histiocytoid cardiomyopathy (PMID: 25921236), and X-linked dominant microphthalmia with linear skin defects syndrome (MLS) (MedGen UID: 906997). Additionally, there is preliminary evidence supporting a correlation with X-linked lethal infantile mitochondrial disorder (LIMD) (MedGen UID: 1648313).
The NHP2 gene is associated with autosomal recessive NHP2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462791).
The NOP10 gene is associated with NOP10-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 341705).
The NT5C3A gene is associated with autosomal recessive hemolytic anemia due to pyrimidine-5′-nucleotidase type I (P5′NI) deficiency (MedGen UID: 341470).
The P2RY12 gene is associated with autosomal dominant and autosomal recessive platelet-type bleeding disorder (MedGen UID: 344008).
The PALB2 gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 25099575, 31841383), ovarian (PMID: 30733081), and possibly prostate cancer (PMID: 17287723, 27433846) in addition to autosomal recessive Fanconi anemia (MedGen UID: 372133). The PALB2 gene also has preliminary evidence suggesting an association with autosomal dominant predisposition to colorectal cancer (PMID: 29478780).
The PARN gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 905452).
The PFKM gene is associated with autosomal recessive glycogen storage disease type VII (GSD7) (MedGen UID: 5342).
The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166).
The PIEZO1 gene is associated with autosomal dominant hereditary xerocytosis (MedGen UID: 124415) and autosomal recessive hereditary lymphedema (MedGen UID: 908120).
The PKLR gene is associated with autosomal recessive pyruvate kinase deficiency (MedGen UID: 473069). Additionally, the PKLR gene has preliminary evidence supporting a correlation with autosomal dominant elevated adenosine triphosphate (MedGen UID: 350114).
The PLA2G4A gene is associated with autosomal recessive cytosolic phospholipase A2alpha deficiency (MedGen UID: 854814).
The PLG gene is associated with autosomal dominant angioedema (MedGen UID: 944089) and autosomal recessive plasminogen deficiency, type I (MedGen UID: 369859).
The POT1 gene is associated with autosomal dominant POT1 tumor predisposition syndrome (MedGen UID: 862913).
The PROC gene is associated with autosomal dominant and recessive protein C deficiency (MedGen UID: 436138 & 394120).
The PROS1 gene is associated with autosomal dominant and recessive protein S deficiency (MedGen UID: 436762 & 482722).
The PUS1 gene is associated with autosomal recessive myopathy, lactic acidosis, and sideroblastic anemia (MLASA) (MedGen UID: 1634824).
The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).
The RAD51 gene is associated with autosomal dominant congenital mirror movements (MedGen UID: 482719) and autosomal dominant Fanconi anemia (MedGen UID: 924579).
The RAD51C gene is associated with autosomal dominant predisposition to breast and ovarian cancer (MedGen UID: 462009) and autosomal recessive Fanconi anemia, type O (FA-O) (MedGen UID: 462003).
The RASGRP2 is associated with autosomal recessive platelet-type bleeding disorder (MedGen UID: 863021).
The RBM8A gene is associated with autosomal recessive thrombocytopenia absent radius (TAR) syndrome (MedGen UID: 61235).
The RECQL4 gene is associated with autosomal recessive Rothmund-Thomson syndrome (RTS) (MedGen UID: 10819), RAPADILINO syndrome (MedGen UID: 336602), and Baller-Gerold syndrome (BGS) (MedGen UID: 120532).
The RFWD3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (PMID: 28691929).
The RHAG gene is associated with autosomal dominant overhydrated hereditary stomatocytosis (MedGen UID: 348876) and autosomal recessive Rh(null) hemolytic anemia (PMID: 9759472, 28470789).
The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia (CHH-AD) spectrum disorders (MedGen UID: 375972).
The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).
The RPL15 gene is associated with autosomal dominant Diamond-Blackfan anemia (PMID: 29599205, 23812780, 25042156).
The RPL18 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 28280134).
The RPL19 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 30503522, 22431104).
The RPL23 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Diamond-Blackfan anemia (PMID: 19191325).
The RPL26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 766956).
The RPL27 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 25424902).
The RPL31 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 25042156).
The RPL35 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 28280134).
The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).
The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).
The RPL9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 31799629).
The RPS10 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412874).
The RPS15A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 27909223).
The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045).
The RPS24 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 387892).
The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).
The RPS27 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 25424902).
The RPS28 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with Diamond-Blackfan anemia with mandibulofacial dystostosis (MedGen UID: 902755).
The RPS29 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 863078).
The RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).
The RTEL1 gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 901644).
The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).
The SAMD9 gene is associated with autosomal dominant myelodysplasia, infection, restriction of growth, adrenal hypoplasia and insufficiency, genital abnormalities, and enteropathy (MIRAGE) syndrome (MedGen UID: 924576) and autosomal recessive normophosphatemic familial tumoral calcinosis (NFTC) (MedGen UID: 355311).
The SAMD9L gene is associated with autosomal dominant ataxia-pancytopenia (AP) syndrome (MedGen UID: 230896) and systemic autoinflammatory disease (PMID: 34417303, 31874111).
The SBF2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4B2 (CMT4B2) (MedGen UID: 346869). Additionally, the SBF2 gene has preliminary evidence supporting a correlation with autosomal recessive congenital thrombocytopenia (PMID: 23334996).
The SEC23B gene is associated with autosomal recessive SEC23B-CDG, also known as congenital dyserythropoietic anemia, type II (CDAII) (MedGen UID: 266296). Additionally, the SEC23B gene has preliminary evidence supporting a correlation with autosomal dominant Cowden syndrome (PMID: 26522472).
The SERPINC1 gene is associated with autosomal dominant and recessive antithrombin III deficiency (MedGen UID: 75781).
The SLC11A2 gene is associated with autosomal recessive hypochromic microcytic anemia with iron overload (MedGen UID: 812483).
The SLC19A2 gene is associated with autosomal recessive thiamine-responsive megaloblastic anemia (MedGen UID: 83338).
The SLC25A38 gene is associated with autosomal recessive pyridoxine-refractory congenital sideroblastic anemia (CSA) (MedGen UID: 899109).
The SLC2A1 gene is associated with a spectrum of overlapping autosomal dominant and recessive conditions which fall under the umbrella term of glucose transporter type 1 deficiency syndrome (Glut1 DS) (MedGen UID: 1645412).
The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type Ib (GSD Ib) (MedGen UID: 78644) and autosomal dominant SLC37A4-CDG (also known as congenital disorder of glycosylation type IIw or CDG2w) (PMID: 32884905).
The SLC40A1 gene is associated with autosomal dominant ferroportin disease (aka hemochromatosis type 4 (HFE4)) (MedGen UID: 340044).
The SLC46A1 gene is associated with autosomal recessive hereditary folate malabsorption (MedGen UID: 83348).
The SLC4A1 gene is associated with autosomal dominant distal renal tubular acidosis (dRTA) (MedGen UID: 78060), autosomal recessive dRTA with haemolytic anemia (MedGen UID: 409736), autosomal dominant Southeast Asian ovalocytosis (SAO) (MedGen UID: 322256) and autosomal dominant hereditary spherocytosis (MedGen UID: 52450). Additionally, the SLC4A1 gene has preliminary evidence supporting a correlation with autosomal dominant hereditary stomatocytosis (PMID: 21255002, 19644137, 21209359).
The SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).
The SMARCD2 gene is associated with autosomal recessive neutrophil-specific granule deficiency (MedGen UID: 1371952).
The SPTA1 gene is associated with autosomal dominant elliptocytosis (MedGen UID: 394841), autosomal recessive pyropoikilocytosis (MedGen UID: 141708), and autosomal dominant and recessive spherocytosis (PMID: 31723846, MedGen UID: 394798).
The SPTB gene is associated with autosomal dominant spherocytosis and elliptocytosis (MedGen UID: 436112, 357139) and autosomal recessive neonatal nonimmune hemolytic anemia (PMID: 32256302).
The SRP54 gene is associated with autosomal dominant Shwachman-Diamond syndrome due to SRP54 deficiency (MedGen UID: 1640046).
The SRP72 gene is associated with autosomal dominant familial bone marrow failure (MedGen UID: 814883).
The STEAP3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hypochromic microcytic anemia (MedGen UID: 124413).
The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 860163), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).
The STK4 gene is associated with autosomal recessive combined immunodeficiency due to MST1 deficiency (MedGen UID: 766857).
The STN1 gene is associated with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (MedGen UID: 1390862).
The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005).
The TBXA2R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant platelet-type bleeding disorder (MedGed UID: 481244).
The TCN2 gene is associated with autosomal recessive transcobalamin II deficiency (MedGen UID: 137976).
The TERC gene is associated with autosomal dominant TERC-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 338831).
The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).
The TF gene is associated with autosomal recessive atransferrinemia (MedGen UID: 105489).
The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).
The TFRC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency due to TFRC deficiency (PMID: 26642240).
The THBD gene is associated with autosomal dominant thrombomodulin-associated coagulopathy (TM-AC) (PMID: 25564403) and autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414541). Additionally, the THBD gene has preliminary evidence supporting a correlation with autosomal dominant thrombophilia due to thrombomodulin defect (MedGen UID: 482606).
The THPO gene is associated with autosomal dominant hereditary thrombocythemia (MedGen UID: 479301), autosomal dominant hereditary thrombocytopenia (PMID: 28466964), autosomal recessive aplastic anemia (PMID: 24085763), and autosomal recessive congenital amegakaryocytic thrombocytopenia (PMID: 36226497).
The TIMM50 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 1622927).
The TINF2 gene is associated with autosomal dominant TINF2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462795).
The TMPRSS6 gene is associated with autosomal recessive iron-refractory iron deficiency anemia (MedGen UID: 39081).
The TNFSF12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (CVID) (PMID: 23493554).
The TP53 gene is associated with autosomal dominant Li-Fraumeni syndrome (LFS) (MedGen UID: 322656).
The TPI1 gene is associated with autosomal recessive triosephosphate isomerase deficiency (MedGen UID: 349893).
The TRNT1 gene is associated with autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) (MedGen UID: 863609) and retinitis pigmentosa with erythrocytic microcytosis (RPEM) (MedGen UID: 934743).
The TSR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked Diamond-Blackfan anaemia with mandibulofacial dystostosis (PMID: 24942156).
The TUBB1 gene is associated with autosomal dominant TUBB1-related macrothrombocytopenia (MedGen UID: 413969).
The UBE2T gene is associated with autosomal recessive Fanconi anemia, type T (FA-T) (MedGen UID: 896157).
The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129).
The VHL gene is associated with autosomal dominant von Hippel-Lindau (VHL) syndrome (MedGen UID: 42458) and autosomal recessive familial erythrocytosis, type 2 (MedGen UID: 332974).
The VIPAS39 gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS2) (MedGen UID: 462022).
The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).
The VPS33B gene is associated with autosomal recessive arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) (MedGen UID: 347219).
The VPS45 gene is associated with autosomal recessive severe congenital neutropenia due to VPS45 deficiency (MedGen UID: 815361).
The WAS gene is associated with X-linked recessive Wiskott-Aldrich syndrome (MedGen UID: 21921), severe congenital neutropenia (MedGen UID: 335314) and thrombocytopenia (MedGen UID: 326416), collectively known as WAS-related disorders.
The WIPF1 gene is associated with autosomal recessive Wiskott-Aldrich syndrome due to WIP deficiency (MedGen UID: 482631).
The WRAP53 gene is associated with autosomal recessive WRAP53-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462792).
The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Fanconi anemia (PMID: 22232082). There is also limited data suggesting a possible association with autosomal dominant predisposition to breast cancer (PMID: 22464251, 25452441); however, this has not been replicated in large meta-analyses (PMID: 33471991).
The YARS2 gene is associated with autosomal recessive myopathy, lactic acidosis, and sideroblastic anemia (MLASA) (MedGen UID: 462152).
The ZCCHC8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal dominant telomere biology disorder (PMID: 31488579).
