Hematology

up to 13 genes

Invitae Diamond-Blackfan Anemia Panel

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Genetic testing for up to 13 genes associated with Diamond-Blackfan anemia (DBA)—a condition characterized by anemia, congenital malformations, growth restriction and an increased risk for leukemia and sarcoma.

up to 12 genes

Invitae Dyskeratosis Congenita Panel

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Genetic testing for up to 12 genes associated with dyskeratosis congenita (DC)—a condition characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia, and increased risk of progressive bone marrow failure and malignancies.

39 genes

Invitae Bone Marrow Failure Syndromes Panel

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Genetic testing for 39 genes that are associated with inherited bone marrow failure syndromes (IBMFS).

1 gene

Invitae Congenital Amegakaryocytic Thrombocytopenia Test

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Genetic testing for the gene MPL, which is associated with congenital amegakaryocytic thrombocytopenia (CAMT), a bone marrow failure syndrome and risk for aplastic anemia and leukemia.

1 gene

Invitae ELANE-Related Neutropenia Test

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Genetic testing for the ELANE gene, associated with ELANE-related neutropenia, which includes severe congenital neutropenia and cyclic neutropenia.

17 genes

Invitae Fanconi Anemia Panel

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Genetic testing for 17 genes associated with Fanconi anemia (FA), a condition characterized by progressive bone marrow failure, physical abnormalities, and increased risk of malignancy.

1 gene

Invitae GATA1-Related X-Linked Cytopenia Test

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Genetic testing for the GATA1 gene, which is associated with X-linked red blood cell and platelet abnormalities manifesting as anemia, thrombocytopenia, epistaxis, hemorrhage, or fetal hydrops.

1 gene

Invitae GATA2 Deficiency Test

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Genetic testing for the gene GATA2, which is associated with autosomal dominant familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML) and other non-hematological symptoms, including immunodeficiency and lymphedema.

1 gene

Invitae WAS-Related Disorders Test

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Genetic testing for the WAS gene, which is associated with hematopoietic disorders including Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and X-linked congenital neutropenia.

27 genes

Invitae Iron Related Disorders Panel

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The Invitae Iron Related Disorders Panel analyzes genes associated with inherited disorders of iron metabolism and transport. These conditions are often characterized by the accumulation of iron within the body.

39 genes

Invitae Hereditary Hemolytic Anemia Panel

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The Invitae Hereditary Hemolytic Anemia Panel analyzes genes that are associated with congenital dyserythropoietic anemia, red blood cell enzymopathies, red blood cell membrane disorders, complement mediated hemolytic anemia, erythrocytosis, methemoglobinemia, and heme oxygenase deficiency. These conditions are characterized by anemia, abnormal red blood cell shape or quantity, jaundice, hematuria, iron overload, and in some cases lymphadenopathy, hepatosplenomegaly, and gallstones.

13 genes

Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel

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The Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel analyzes genes which are associated with thrombotic microangiopathies, including atypical hemolytic uremic syndrome and thrombotic thrombocytopenic purpura. These conditions are characterized by hemolytic anemia, thrombocytopenia, and kidney damage which may progress to kidney failure.

5 genes

Invitae Hereditary Hemochromatosis Panel

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Genetic testing for 5 genes associated with hereditary hemochromatosis (HH), a genetic disorder that causes increased iron absorption and can lead to iron overload.

up to 7 genes

Invitae Hereditary Thrombophilia Panel

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Genetic testing for up to 7 genes associated with hereditary thrombophilia, a genetic disorder that increases risk for developing thromboembolism.

1 gene

Invitae Antithrombin III Deficiency Test

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Genetic testing for SERPINC1, the gene associated with antithrombin III deficiency, a condition causing risk of deep venous thrombosis and pulmonary embolism.

1 gene

Invitae Protein C Deficiency Test

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Genetic testing for PROC, the gene associated with protein C deficiency, a condition that increases risk of deep venous thrombosis and pulmonary embolism.

1 gene

Invitae Protein S Deficiency Test

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Genetic testing for PROS1, the gene associated with protein S deficiency, a condition that increases risk of deep venous thrombosis, superficial thrombophlebitis, and pulmonary embolism.

To add genes to your cart, first select a clinical area to see available combinations

  • Clinical Area: Hereditary Cancer
  • Clinical Area: Non-malignant Hematology

Gene
A
ABCB7

The ABCB7 gene is associated with X-linked sideroblastic anemia and spinocerebellar ataxia (ASAT) (MedGen UID: 335078).

ABCG5

The ABCG5 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).

ABCG8

The ABCG8 gene is associated with autosomal recessive sitosterolemia (MedGen UID: 87466).

ACD

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).

ADA

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

ADAMTS13

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).

AK1

The AK1 gene is associated with autosomal recessive hemolytic anemia due to adenylate kinase deficiency (MedGen UID: 390802).

ALAS2

The ALAS2 gene is associated with X-linked sideroblastic anemia (MedGen UID:1638704) and X-linked erythropoietic protoporphyria (MedGen UID: 394385).

ALDOA

The ALDOA gene is associated with autosomal recessive glycogen storage disease (GSD) XII (MedGen UID: 82895).

ANK1

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).

ATP4A

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).

ATP7B

The ATP7B gene is associated with autosomal recessive Wilson disease (MedGen UID: 42426).

B
BPGM

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).

BRCA2

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).

BRIP1

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.

C
C15orf41

The C15ORF41 gene is associated with autosomal recessive C15ORF41-related congenital dyserythropoietic anemia (MedGen UID: 816515).

C3

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).

CD46

The CD46 gene is associated with autosomal dominant atypical hemolytic uremic syndrome (aHUS) (MedGen UID: 414167).

CD55

The CD55 gene is associated with autosomal recessive complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy syndrome (MedGen UID: 1622548).

CD59

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

CDAN1

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

CFB

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).

CFH

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).

CFI

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).

COL4A1

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).

CP

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).

CTC1

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).

CYB5R3

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

D
DGKE

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

DKC1

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

E
ELANE

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

EPB41

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

EPB42

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

ERCC4

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.

F
F2

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

F5
F9

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).

FANCA

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).

FANCB

The FANCB gene is associated with X-linked Fanconi anemia type B (FA-B) (MedGen UID: 336901).

FANCC

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.

FANCD2

The FANCD2 gene is associated with autosomal recessive Fanconi anemia (MedGen UID: 463627).

FANCE

The FANCE gene is associated with autosomal recessive Fanconi anemia, type E (FA-E) (MedGen UID: 463628).

FANCF

The FANCF gene is associated with autosomal recessive Fanconi anemia, type F (FA-F) (MedGen UID: 448251).

FANCG

The FANCG gene is associated with autosomal recessive Fanconi anemia, type G (FA-G) (MedGen UID: 433393).

FANCI

The FANCI gene is associated with autosomal recessive Fanconi anemia, type I (FA-I) (MedGen UID: 323016).

FANCL

The FANCL gene is associated with autosomal recessive Fanconi anemia, type L (FA-L) (MedGen UID: 433302).

FANCM

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.

FECH

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

FTH1

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).

FTL

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).

G
G6PD

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

GATA1

The GATA1 gene is associated with X-linked GATA1-related cytopenia (MedGen UID: 335283) and X-linked Diamond-Blackfan anemia (MedGen UID: 266045).

GATA2

The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660) and Emberger syndrome (MedGen UID: 481294).

GCLC

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

GLRX5

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)

GPI

The GPI gene is associated with autosomal recessive glucose-6-phosphate isomerase (GPI) deficiency (MedGen UID: 462080).

GSR

The GSR gene is associated with autosomal recessive hemolytic anemia due to glutathione reductase deficiency (MedGen UID: 945947).

GSS

The GSS gene is associated with autosomal recessive glutathione synthetase deficiency (MedGen UID: 97988).

H
HAMP

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

HFE

The HFE gene is associated with autosomal recessive hereditary hemochromatosis (HFE-HH) (MedGen UID: 140272).

HJV

The HJV gene (formerly known as HFE2) is associated with autosomal recessive hemochromatosis type 2A (HFE2A), also known as juvenile hemochromatosis (MedGen UID: 356321).

HK1

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).

HMOX1

The HMOX1 gene is associated with autosomal recessive heme oxygenase 1 deficiency (HMOX1D) (MedGen UID: 333882).

I
INF2

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).

ITGA2B

The ITGA2B gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736) and autosomal dominant macrothrombocytopenia (MedGen UID: 348293).

ITGB3

The ITGB3 gene is associated with autosomal recessive Glanzmann’s thrombasthenia (MedGen UID: 52736) and autosomal dominant macrothrombocytopenia (MedGen UID: 348293).

J
K
KCNN4

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

KIF23

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).

KLF1

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).

L
LARS2

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).

LPIN2

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

M
MMACHC

The MMACHC gene is associated with autosomal recessive methylmalonic aciduria with homocystinuria due to cobalamin C (cblC) deficiency (MedGen UID: 341256).

MPL

The MPL gene is associated with autosomal dominant essential thrombocythemia (MedGen UID: 11797) and autosomal recessive congenital amegakaryocytic thrombocytopenia (MedGen UID: 272171).

MTHFR

The MTHFR gene is associated with autosomal recessive severe MTHFR deficiency (MedGen UID: 383829).

N
NDUFB11

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).

NHP2

The NHP2 gene is associated with autosomal recessive NHP2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462791).

NOP10

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).

NT5C3A

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

O
P
PALB2

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.

PARN

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

PFKM

The PFKM gene is associated with autosomal recessive glycogen storage disease type VII (GSD7) (MedGen UID: 5342).

PGK1

The PGK1 gene is associated with X-linked phosphoglycerate kinase 1 (PGK1) deficiency (MedGen UID: 410166).

PIEZO1

The PIEZO1 gene is associated with autosomal dominant hereditary xerocytosis (MedGen UID: 124415) and autosomal recessive hereditary lymphedema (MedGen UID: 908120).

PKLR

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).

PLG

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).

PROC

The PROC gene is associated with autosomal dominant and recessive protein C deficiency (MedGen UID: 436138 & 394120).

PROS1

The PROS1 gene is associated with autosomal dominant and recessive protein S deficiency (MedGen UID: 436762 & 482722).

PUS1

The PUS1 gene is associated with autosomal recessive myopathy, lactic acidosis, and sideroblastic anemia (MLASA) (MedGen UID: 1634824).

Q
R
RAD51C

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.

RHAG

The RHAG gene is associated with autosomal dominant overhydrated hereditary stomatocytosis (MedGen UID: 348876) and autosomal recessive Rh(null) hemolytic anemia (PMID: 9759472, 28470789).

RPL11

The RPL11 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 436451).

RPL15

The RPL15 gene is associated with autosomal dominant Diamond-Blackfan anemia (PMID: 29599205, 23812780, 25042156).

RPL19

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).

RPL26

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

RPL35A

The RPL35A gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 382705).

RPL5

The RPL5 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 75558).

RPS10

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

RPS19

The RPS19 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 266045).

RPS24

The RPS24 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 387892).

RPS26

The RPS26 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 412873).

RPS29

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).

RPS7

The RPS7 gene is associated with autosomal dominant Diamond-Blackfan anemia (MedGen UID: 390817).

RTEL1

The RTEL1 gene is associated with autosomal dominant and autosomal recessive dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 901644).

RUNX1

The RUNX1 gene is associated with autosomal dominant familial platelet disorder with associated myeloid malignancy (MedGen UID: 321945).

S
SEC23B

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).

SERPINC1

The SERPINC1 gene is associated with autosomal dominant and recessive antithrombin III deficiency (MedGen UID: 75781).

SLC11A2

The SLC11A2 gene is associated with autosomal recessive hypochromic microcytic anemia with iron overload (MedGen UID: 812483).

SLC19A2

The SLC19A2 gene is associated with autosomal recessive thiamine-responsive megaloblastic anemia (MedGen UID: 83338).

SLC25A38

The SLC25A38 gene is associated with autosomal recessive pyridoxine-refractory congenital sideroblastic anemia (CSA) (MedGen UID: 899109).

SLC2A1

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).

SLC40A1

The SLC40A1 gene is associated with autosomal dominant ferroportin disease (aka hemochromatosis type 4 (HFE4)) (MedGen UID: 340044).

SLC46A1

The SLC46A1 gene is associated with autosomal recessive hereditary folate malabsorption (MedGen UID: 83348).

SLC4A1

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).

SLX4

The SLX4 gene is associated with autosomal recessive Fanconi anemia, type P (FA-P) (MedGen UID: 450103).

SPTA1

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

SPTB

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

STEAP3

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).

T
TERC

The TERC gene is associated with autosomal dominant TERC-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 338831).

TERT

The TERT gene is associated with both autosomal dominant and autosomal recessive TERT-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462793).

TF

The TF gene is associated with autosomal recessive atransferrinemia (MedGen UID: 105489).

TFR2

The TFR2 gene is associated with autosomal recessive hemochromatosis type 3 (HFE3) (MedGen UID: 388114).

TFRC

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).

THBD

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).

TINF2

The TINF2 gene is associated with autosomal dominant TINF2-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 462795).

TMPRSS6

The TMPRSS6 gene is associated with autosomal recessive iron-refractory iron deficiency anemia (MedGen UID: 39081).

TPI1

The TPI1 gene is associated with autosomal recessive triosephosphate isomerase deficiency (MedGen UID: 349893).

TRNT1

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).

U
USB1

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.

V
VHL

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).

W
WAS

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.

WRAP53

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).

X
XRCC2

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).

Y
YARS2

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

Z