Hematology

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 currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and recessive dyskeratosis congenita (DC), bone marrow failure and lymphoid cancer (PMID: 25233904, 25205116, 27528712).

The ADA gene is associated with autosomal recessive severe combined immunodeficiency due to adenosine deaminase deficiency (MedGen UID: 354935).

The ADAMTS13 gene is associated with Upshaw-Schulman syndrome, also known as autosomal recessive congenital thrombotic thrombocytopenic purpura (TPP) 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 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 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 BPGM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive erythrocytosis due to bisphosphoglycerate mutase deficiency (PMID: 29790589, 1421379, MEDGEN UID: 489898).

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 and possibly breast cancer (PMID: 17033622, 21964575, 26315354). Additionally, BRIP1 is associated with autosomal recessive Fanconi anemia (MedGen UID: 323015). There is also evidence to suggest BRIP1 is associated with autosomal dominant predisposition to prostate cancer (PMID: 29368341, 28657667, 29356034). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

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) and autosomal dominant atypical hemolytic uremic syndrome 5 (aHUS5) (MedGen UID: 442875).

The CD46 gene is associated with autosomal dominant 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 CD59-mediated hemolytic anemia, with or without immune-mediated polyneuropathy (HACD59) (MedGen UID: 393582).

The CDAN1 gene is associated with autosomal recessive congenital dyserythropoietic anemia (MedGen UID: 82891).

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 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).

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 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 CYB5R3 gene is associated with autosomal recessive methemoglobinemia due to NADH-cytochrome b5 reductase deficiency (MedGen UID: 75661).

The DGKE gene is associated with autosomal recessive atypical hemolytic uremic syndrome 7 (AHUS7) and nephrotic syndrome, type 7 (NPHS7) (MedGen UID: 767244).

The DKC1 gene is associated with X-linked dyskeratosis congenita spectrum disorders (DC) (MedGen UID: 216941).

The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).

The EPB41 gene is associated with autosomal recessive elliptocytosis (MedGen UID: 394841).

The EPB42 gene is associated with autosomal recessive spherocytosis (MedGen UID: 52450).

The ERCC4 gene is associated with autosomal recessive Fanconi anemia, type Q (MedGen UID: 815318) and xeroderma pigmentosa, group F (XPF) (MedGen UID: 120612). Studies also suggest ERCC4 may be associated with autosomal recessive Cockayne syndrome (PMID: 23623389). The data, however, are preliminary and available evidence is insufficient to make a determination regarding this relationship.

The F2 gene is associated with prothrombin-related thrombophilia (MedGen UID: 463623) and autosomal recessive prothrombin deficiency (MedGen UID: 5714).

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). Additionally, there is preliminary evidence that FANCA is associated with autosomal dominant predisposition to prostate cancer; however, the available evidence is insufficient to make a determination regarding this relationship (PMID: 28864460, 27701467, 26181256).

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 (MedGen UID: 483324). Additionally, there is evidence suggesting FANCC is associated with autosomal dominant predisposition to breast and pancreatic cancer (PMID: 23028338, 12750283, 15695377). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

The FANCD2 gene is associated with autosomal recessive Fanconi anemia (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 (PMID: 30075111, 29231814, 28837162, 29895858, 28837157). Additionally, there is preliminary evidence that FANCM is associated with autosomal dominant predisposition to breast cancer (PMID: 23409019, 25288723) and autosomal recessive Fanconi anemia (PMID: 16116422, 19423727, 21681190). The data, however, are insufficient to make a determination regarding these relationships.

The FECH gene is associated with autosomal recessive erythropoietic protoporphyria (MedGen UID: 1643471).

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 G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 40355).

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) and Emberger syndrome (MedGen UID: 481294).

The GCLC gene is associated with autosomal recessive hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (MedGen UID: 347272).

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 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 HAMP gene is associated with autosomal recessive hemochromatosis (type 2B) (aka juvenile hemochromatosis) (MedGen UID: 356040).

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 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 KCNN4 gene is associated with autosomal dominant xerocytosis (MedGen UID: 1638271).

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 KLF1 gene is associated with autosomal dominant congenital dyserythropoietic anemia (MedGen UID: 462276). Additionally, the KLF1 gene has preliminary evidence supporting correlations with multiple hematology disorders (MedGen UID: 266227, 462155, 220951).

The LARS2 gene is associated with autosomal recessive Perrault syndrome (MedGen UID: 815435). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive hydrops, lactic acidosis, and sideroblastic anemia (HLASA) (MedGen UID: 934728).

The LPIN2 gene is associated with autosomal recessive Majeed syndrome (MedGen UID: 351273).

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 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). Additionally, the NOP10 gene has preliminary evidence supporting a correlation with autosomal recessive hearing impairment, cataract, nephrosis and enterocolitis (PMID: 32554502).

The NT5C3A gene is associated with autosomal recessive hemolytic anemia due to pyrimidine-5′-nucleotidase type I (P5′NI) deficiency (MedGen UID: 341470).

The PALB2 gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 25099575, 31841383) and ovarian cancer (PMID: 30733081) and autosomal recessive Fanconi anemia (MedGen UID: 372133). Studies have suggested a correlation with PALB2 and autosomal dominant predisposition to prostate (PMID: 17287723) and male breast cancer (PMID: 31841383). The evidence, however, is preliminary and insufficient to make a determination regarding these relationships.

The PARN gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 905452), and autosomal dominant telomere-related pulmonary fibrosis (PMID: 25848748).

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 PLG gene is associated with autosomal dominant angioedema (MedGen UID: 944089) and autosomal recessive plasminogen deficiency, type I (MedGen UID: 369859). Additionally, the PLG gene has preliminary evidence supporting a correlation with autosomal recessive dysplasminogenemia (PMID: 659588, 1986355).

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 RAD51C gene is associated with autosomal dominant predisposition to ovarian cancer (MedGen UID: 462009). Studies have also suggested RAD51C may be associated with autosomal dominant predisposition to breast cancer (PMID: 29988077, 22725699, 23372765), prostate cancer (PMID: 27433846), and autosomal recessive Fanconi anemia (PMID: 20400963). The data, however, are preliminary and insufficient to make a determination regarding these relationships.

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 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 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 RPL26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 766956).

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 RPS10 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412874).

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 RPS29 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Diamond-Blackfan anemia (PMID: 24829207).

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 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 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 SPTA1 gene is associated with autosomal dominant elliptocytosis (MedGen UID: 394841) and autosomal recessive spherocytosis and pyropoikilocytosis (MedGen UID: 394798, 141708).

The SPTB gene is associated with autosomal dominant elliptocytosis (MedGen UID: 357139) and spherocytosis (MedGen UID: 436112).

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 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). Additionally, the THBD gene has preliminary evidence supporting a correlation with autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414541) and autosomal dominant thrombophilia due to thrombomodulin defect (MedGen UID: 482606).

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 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 (MedGen UID: 934743).

The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129). In addition, there is evidence to suggest an association with autosomal recessive dyskeratosis congenita (PMID: 20817924, 25044170). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

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 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 WRAP53 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dyskeratosis congenita due to WRAP53 deficiency (MedGen UID: 462792).

The XRCC2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to breast cancer (PMID: 22464251, 25452441) and autosomal recessive Fanconi anemia (PMID: 22232082).

The YARS2 gene is associated with autosomal recessive myopathy, lactic acidosis, and sideroblastic anemia (MLASA) (MedGen UID: 462152).