Immunology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

Clinical Area: Metabolic Newborn Screening and Immunology

207 genes

Invitae Primary Immunodeficiency Panel

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Genetic testing for 207 genes that are associated with primary immunodeficiencies (PIDs).

up to 31 genes

Invitae Agammaglobulinemia Panel

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Genetic testing for up to 31 genes that are associated with agammaglobulinemia, hypogammaglobulinemia, and B-cell deficiencies, a group of congenital immunodeficiencies that are characterized by early onset repetitive bacterial infections associated with low levels of serum immunoglobulins.

up to 33 genes

Invitae Common Variable Immunodeficiency Panel

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Genetic testing for up to 32 genes that are associated with common variable immunodeficiency (CVID).

4 genes

Invitae Hyper IgE Syndrome Panel

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Genetic testing of four genes associated with Hyper IgE syndrome, a rare primary immunodeficiency characterized by elevated serum IgE, eosinophilia, dermatitis, and recurrent skin and lung infections.

up to 6 genes

Invitae Hyper IgM Syndrome Panel

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Genetic testing of up to six genes associated with hyper IgM syndrome, a rare primary immunodeficiency characterized by immunoglobulin abnormalities and recurrent infections.

up to 109 genes

Invitae Autoinflammatory Syndromes Panel

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Genetic testing for up to 109 genes that are associated with autoinflammatory syndromes.

4 genes

Invitae Familial Cold Autoinflammatory Syndrome Panel

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Genetic testing for four genes that are associated with familial cold autoinflammatory syndrome (FACS).

up to 12 genes

Invitae Familial Mediterranean Fever Test

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Genetic testing of the MEFV gene, the only known cause of familial Mediterranean fever (FMF).

up to 47 genes

Invitae Monogenic Inflammatory Bowel Disease Panel

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Genetic testing of 47 genes that are associated with primary immunodeficiencies resulting in pediatric onset inflammatory bowel disease (IBD).

12 genes

Invitae Periodic Fever Syndromes Panel

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Genetic testing for 12 genes that are associated with periodic fever syndromes.

up to 83 genes

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

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Genetic testing for up to 86 genes that are associated with severe combined immunodeficiency (SCID) and combined immunodeficiency (CID).

up to 86 genes

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for genes that are associated with severe combined immunodeficiency (SCID).

2 genes

Invitae T-B-NK- Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for the ADA and AK2 genes which are associated with severe combined immunodeficiency (SCID) due to near-complete absence of T, B and natural killer (NK) lymphocytes. Although the lymphocyte profile observed in patients with pathogenic variants in ADA and AK2 are both T/B/NK deficient, the clinical presentations are distinct.

6 genes

Invitae T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for 6 genes that are associated with T-cell negative, B-cell negative, NK-cell positive severe combined immunodeficiency (SCID).

2 genes

Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for the IL2RG and JAK3 genes which are associated with severe combined immunodeficiency (SCID) due to near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes.

6 genes

Invitae T-B+NK+ Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for 6 genes that are associated with T-cell negative, B-cell positive, NK-cell positive severe combined immunodeficiency (SCID).

1 gene

Invitae X-Linked Severe Combined Immunodeficiency (SCID) Test

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Genetic testing for IL2RG, associated with X-linked severe combined immunodeficiency (X-SCID), a condition characterized by severe immunodeficiency and near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes.

4 genes

Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for 4 genes that are associated with radiation-sensitive severe combined immunodeficiency (RS-SCID), causing severe combined immunodeficiency as well as increased sensitivity to ionizing radiation.

up to 69 genes

Invitae Combined Immunodeficiency (CID) Panel

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Genetic testing for up to 69 genes that are associated with combined immunodeficiency (CID).

37 genes

Invitae Syndromic Combined Immunodeficiency (CID) Panel

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Genetic testing for up to 37 genes that are associated with syndromic combined immunodeficiency diseases (CID).

up to 11 genes

Invitae Chronic Mucocutaneous Candidiasis Panel

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Genetic testing for up to 11 genes that are associated with chronic mucocutaneous candidiasis (CMC) causing an increased susceptibility to candidal infections.

4 genes

Invitae Epidermodysplasia Verruciformis Panel

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Genetic testing for 4 genes associated with epidermodysplasia verruciformis (EV).

up to 6 genes

Invitae Herpes Simplex Encephalitis Panel

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Genetic testing for up to 6 genes that are associated with herpes simplex encephalitis (HSE).

11 genes

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel

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Genetic testing for up to 11 genes associated with mendelian susceptibility to mycobacterial disease (MSMD) resulting in susceptibility to develop mycobacterial and other infections.

up to 109 genes

Invitae Monogenic Autoimmunity Panel

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Genetic testing for 109 genes that are associated with monogenic autoimmunity.

up to 11 genes

Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel

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Genetic testing for up to 11 genes that are associated with predisposition to autoimmune lymphoproliferative disorders (ALPS).

21 genes

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

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Genetic testing for 21 genes that are associated with hereditary hemophagocytic lymphohistiocytosis (HLH).

27 genes

Invitae Phagocyte Defects Panel

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Genetic testing for up to 27 genes that are associated with hereditary phagocyte defects (HPD).

2 genes

Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel

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Genetic testing for 2 genes that are associated with immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome.

Clinical Area: Hereditary Cancer

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.

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

  • Clinical Area: Metabolic Newborn Screening and Immunology
  • Clinical Area: Hereditary Cancer

Gene
A
ACD
Synonym(s): PIP1; POT1- AND TIN2-ORGANIZING PROTEIN; POT1-INTERACTING PROTEIN 1; PTOP; TELOMERE PROTEIN TPP1; TIN2-INTERACTING PROTEIN 1; TINT1; TPP1

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) (PMID: 25233904, 25205116).

ACP5
Synonym(s): HPAP; TRACP5a; TRACP5b; TRAP; TrATPase

The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).

ACTB
Synonym(s): BRWS1; PS1TP5BP1

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (PMID: 28487785, 27862284, 16685646).

ADA

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

ADA2
Synonym(s): ADA2; ADGF; CECR1; IDGFL; PAN; SNEDS

The ADA2 gene is associated with autosomal recessive polyarteritis nodosa (PAN) (MedGen UID: 14681).

ADAM17
Synonym(s): ADAM18; CD156B; CSVP; NISBD; NISBD1; TACE

The ADAM17 gene is associated with autosomal recessive inflammatory skin and bowel disease (ISBD) (MedGen UID: 482131).

ADAR
Synonym(s): ADAR1; AGS6; DRADA; DSH; DSRAD; G1P1; IFI-4; IFI4; K88DSRBP; P136

The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071). Additionally, the ADAR gene has preliminary evidence supporting a correlation with autosomal recessive Aicardi Goutieres syndrome (AGS) (PMID: 23001123).

AICDA
Synonym(s): AID; ARP2; CDA2; HEL-S-284; HIGM2

The AICDA gene is associated with autosomal recessive hyper-IgM syndrome type 2 (HIGM2) (MedGen UID: 354548).

AIRE
Synonym(s): AIRE1; APECED; APS1; APSI; PGA1

The AIRE gene is associated with autosomal recessive and autosomal dominant autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (APECED) (MedGen UID: 39125).

AK2
Synonym(s): ADK2

The AK2 gene is associated with autosomal recessive reticular dysgenesis, a rare form of severe combined immunodeficiency (MedGen UID: 124417).

AP3B1
Synonym(s): ADTB3; ADTB3A; HPS; HPS2; PE

The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 2 (MedGen UID: 374912).

ATM
Synonym(s): AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1

The ATM gene is associated with an increased risk for autosomal dominant breast, pancreatic and prostate cancers (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178, 27433846, 27324988, 27989354) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

B
B2M
Synonym(s): IMD43

The B2M gene is associated with autosomal recessive hereditary major histocompatibility complex class I deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (PMID: 25702838). Additionally, the B2M gene has preliminary evidence supporting a correlation with autosomal dominant amyloidosis (PMID: 22693999).

BCL10
Synonym(s): c-E10; CARMEN; CIPER; CLAP; IMD37; mE10

The BCL10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with combined immunodeficiency (MedGen UID: 863632).

BLNK
Synonym(s): AGM4; BASH; bca; BLNK-S; LY57; SLP-65; SLP65

The BLNK gene is associated with autosomal recessive BLNK deficiency (MedGen UID: 462102).

BLOC1S6
Synonym(s): BLOS6; HPS9; PA; PALLID; PLDN

The BLOC1S6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (HPS) type 9 (MedGen UID: 481656).

BTK
Synonym(s): AGMX1; AT; ATK; BPK; IMD1; PSCTK1; XLA

The BTK gene is associated with X-linked recessive agammaglobulinemia (XLA) (MedGen UID: 65123). Additionally, the BTK gene has preliminary evidence supporting a correlation with agammaglobulinemia with isolated growth hormone deficiency (PMID: 7189577, 1872183, 2299506).

C
CARD11
Synonym(s): BENTA; BIMP3; CARMA1; IMD11; PPBL

The CARD11 gene is associated with autosomal recessive combined immunodeficiency (MedGen UID: 767600) and autosomal dominant B-cell expansion with NFKB and T-cell anergy (BENTA) (MedGen UID: 850732). Additionally, the CARD11 gene has preliminary evidence supporting a correlation with autosomal dominant immunodeficiency with atopic dermatitis (PMID: 28628108).

CARD14
Synonym(s): BIMP2; CARMA2; PRP; PSORS2; PSS1

The CARD14 gene is associated with autosomal dominant CAMPS (CARD14 mediated psoriasis) (MedGen UID: 351141). Additionally, the CARD14 gene has preliminary evidence supporting a correlation with autosomal dominant pityriasis rubra pilaris (MedGen UID: 45939).

CARD9
Synonym(s): CANDF2; hCARD9

The CARD9 gene is associated with autosomal recessive familial candidiasis 2 (CANDF2) (MedGen UID: 347128).

CASP10
Synonym(s): ALPS2; FLICE2; MCH4

The CASP10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive autoimmune lymphoproliferative syndrome (ALPS-CASP10) (PMID: 10412980, 16446975).

CASP8
Synonym(s): ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5

The CASP8 gene is associated with autosomal recessive caspase-8 deficiency state (CEDS) (MedGen UID: 339548).

CD247
Synonym(s): CD3-ZETA; CD3H; CD3Q; CD3Z; IMD25; T3Z; TCRZ

The CD247 gene is associated with autosomal recessive severe combined immunodeficiency due to CD3zeta deficiency (MedGen UID: 346666).

CD27
Synonym(s): S152; S152. LPFS2; T14; TNFRSF7; Tp55

The CD27 gene is associated with autosomal recessive CD27 deficiency (MedGen UID: 767454).

CD3D
Synonym(s): CD3-DELTA; IMD19; T3D

The CD3D gene is associated with autosomal recessive severe combined immune deficiency (MedGen UID: 816477).

CD3E
Synonym(s): IMD18; T3E; TCRE

The CD3E gene is associated with autosomal recessive severe combined immune deficiency (MedGen UID: 816457).

CD3G
Synonym(s): CD3-GAMMA; IMD17; T3G

The CD3G gene is associated with autosomal recessive combined immunodeficiency due to CD3 gamma deficiency (MedGen UID: 816437).

CD40LG
Synonym(s): CD154; CD40L; gp39; hCD40L; HIGM1; IGM; IMD3; T-BAM; TNFSF5; TRAP

The CD40LG gene is associated with X-linked hyper-IgM syndrome (HIGM1) (MedGen UID: 96019).

CD79A
Synonym(s): IGA; MB-1

The CD79A gene is associated with autosomal recessive agammaglobulinemia due to Igα deficiency (MedGen UID: 462101).

CD79B
Synonym(s): AGM6; B29; IGB

The CD79B gene is associated with autosomal recessive agammaglobulinemia due to Igβ deficiency (MedGen UID: 461557).

CD8A
Synonym(s): CD8; Leu2; MAL; p32

The CD8A gene is associated with autosomal recessive familial CD8 deficiency (MedGen UID: 323058).

CEBPE
Synonym(s): C/EBP-epsilon; CRP1

The CEBPE gene is associated with autosomal recessive neutrophil-specific granule deficiency (MedGen UID: 140766).

CHD7
Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 102469).

CIITA
Synonym(s): C2TA; CIITAIV; MHC2TA; NLRA

The CIITA gene is associated with autosomal recessive major histocompatibility complex class II (MHCII) deficiency, also known as bare lymphocyte syndrome (BLS), type II (MedGen UID: 444051).

CLPB
Synonym(s): ANKCLB; HSP78; MEGCANN; MGCA7; SKD3

The CLPB gene is associated with autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 833014).

COPA
Synonym(s): AILJK; HEP-COP

The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (MedGen: 452265).

CORO1A
Synonym(s): CLABP; CLIPINA; HCORO1; IMD8; p57; TACO

The CORO1A gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 815713).

CR2
Synonym(s): C3DR; CD21; CR; CVID7; SLEB9

The CR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hypogammaglobulinemia due to CD21 deficiency (PMID: 22035880).

CSF2RA
Synonym(s): CD116; CDw116; CSF2R; CSF2RAX; CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR; GMR; SMDP4

The CSF2RA gene is associated with autosomal recessive primary pulmonary alveolar proteinosis (PAP) (MedGen ID: 393858).

CSF3R
Synonym(s): CD114; GCSFR; SCN7

The CSF3R gene is associated with autosomal dominant hereditary neutrophilia (MedGen UID: 154252) and autosomal recessive severe congenital neutropenia 7 (SCN7) (MedGen UID: 889011).

CTC1
Synonym(s): AAF-132; AAF132; C17orf68; CRMCC; tmp494178

The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580).

CTLA4
Synonym(s): ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12

The CTLA4 gene is associated with autosomal dominant CTLA4 deficiency (MedGen UID 863651).

CTPS1
Synonym(s): CTPS; IMD24

The CTPS1 gene is associated with autosomal recessive combined immunodeficiency due to CTPS1 deficiency (MedGen UID: 863054).

CTSC
Synonym(s): CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD; PALS; PDON1; PLS

The CTSC gene is associated with autosomal recessive Haim-Munk syndrome (HMS) (MedGen UID: 344539), Papillon-Lefevre syndrome (PALS) (MedGen UID: 45306) and aggressive periodontitis 1 (MedGen UID: 10661).

CXCR4
Synonym(s): CD184; D2S201E; FB22; HM89; HSY3RR; LAP-3; LAP3; LCR1; LESTR; NPY3R; NPYR; NPYRL; NPYY3R; WHIM; WHIMS

The CXCR4 gene is associated with autosomal dominant warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (WHIMS) (MedGen UID: 96875).

CYBA
Synonym(s): Cytochrome b alpha polypeptide; Cytochrome b light chain; Cytochrome b(558) alpha chain; Cytochrome b(558) alpha-subunit; Cytochrome b558 subunit alpha; Flavocytochrome b-558 alpha polypeptide; Neutrophil cytochrome b 22 kDa polypeptide; P22 phagocyte B-cytochrome; p22-PHOX; P22phox; Superoxide-generating NADPH oxidase light chain subunit

The CYBA gene is associated with autosomal recessive chronic granulomatous disease (CGD) (MedGen UID: 383872).

CYBB
Synonym(s): AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX

The CYBB gene is associated with X-linked recessive chronic granulomatous disease (CGD) (MedGen UID: 336165).

D
DCLRE1B
Synonym(s): APOLLO; SNM1B; SNMIB

The DCLRE1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome (PMID: 20479256).

DCLRE1C
Synonym(s): A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C

The DCLRE1C gene is associated with autosomal recessive severe combined immune deficiency with sensitivity to ionizing radiation (RS-SCID) (MedGen UID: 355454).

DKC1
Synonym(s): CBF5; DKC; DKCX; NAP57; NOLA4; XAP101

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

DNMT3B
Synonym(s): ICF; ICF1; M.HsaIIIB

The DNMT3B gene is associated with autosomal recessive immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (MedGen UID: 140770).

DOCK2
Synonym(s): IMD40

The DOCK2 gene is associated with autosomal recessive combined immunodeficiency (CID) due to DOCK2 deficiency (MedGen UID: 901370).

DOCK8
Synonym(s): HEL-205; MRD2; ZIR8

The DOCK8 gene is associated with autosomal recessive DOCK8 deficiency (MedGen UID: 369829).

E
ELANE
Synonym(s): ELA2; GE; HLE; HNE; NE; PMN-E; SCN1

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

EPG5
Synonym(s): HEEW1; KIAA1632; VICIS

The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).

F
FADD
Synonym(s): GIG3; MORT1

The FADD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive ALPS-like disorder with additional findings including recurrent infections with encephalopathy, hepatic dysfunction, and cardiovascular malformations (PMID: 21109225).

FAS
Synonym(s): ALPS1A; APO-1; APT1; CD95; FAS1; FASTM; TNFRSF6

The FAS gene is associated with autosomal dominant autoimmune lymphoproliferative syndrome (ALPS-FAS) (MedGen UID: 231300).

FASLG
Synonym(s): ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L; FASL; TNFSF6; TNLG1A

The FASLG gene is associated with autosomal recessive autoimmune lymphoproliferative syndrome (ALPS-FASLG) (MedGen UID: 356158). Additionally, there is preliminary evidence supporting a correlation with an autosomal dominant ALPS (PMID: 8787672, 17605793).

FERMT3
Synonym(s): KIND3; KINDLIN3; MIG-2; MIG2B; UNC112C; URP2; URP2SF

The FERMT3 gene is associated with autosomal recessive leukocyte adhesion deficiency, type 3 (LAD3) (MedGen UID: 411605).

FOXN1
Synonym(s): FKHL20; RONU; WHN

The FOXN1 gene is associated with autosomal recessive severe combined immunodeficiency due to FOXN1 deficiency (MedGen UID: 355713).

FOXP3
Synonym(s): AIID; DIETER; IPEX; JM2; PIDX; XPID

The FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID: 83339).

FPR1
Synonym(s): FMLP; FPR

The FPR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant periodontitis (PMID: 10534074, 17927965).

G
G6PC3
Synonym(s): Glucose-6-phosphatase beta; SCN4; UGRP

The G6PC3 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 436454).

G6PD
Synonym(s): G6PD1

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

GATA2
Synonym(s): DCML; IMD21; MONOMAC; NFE1B

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

GFI1
Synonym(s): GFI-1; GFI1A; SCN2; ZNF163

The GFI1 gene is associated with autosomal dominant severe congenital neutropenia 2 (MedGen UID: 413975).

H
HAX1
Synonym(s): HAX-1; HCLSBP1; HS1BP1; SCN3

The HAX1 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 807554).

I
ICOS
Synonym(s): AILIM; CD278; CVID1

The ICOS gene is associated with autosomal recessive common variable immunodeficiency (CVID) (MedGen UID: 460728). In addition, the ICOS gene has preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (CID) (PMID: 26399252).

IFIH1
Synonym(s): AGS7; Hlcd; IDDM19; MDA-5; MDA5; RLR-2; SGMRT1

The IFIH1 gene is associated with autosomal dominant Aicardi-Goutieres syndrome (AGS) (MedGen UID: 854829) and Singleton-Merton syndrome (MedGen UID: 98481).

IFNGR1
Synonym(s): CD119; IFNGR; IMD27A; IMD27B

The IFNGR1 gene is associated with autosomal recessive (MedGen UID: 860386) and autosomal dominant (MedGen UID: 807420) Mendelian susceptibility to mycobacterial disease (MSMD) due to interferon-gamma receptor 1 deficiency.

IFNGR2
Synonym(s): AF-1; IFGR2; IFNGT1; IMD28

The IFNGR2 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 928740).

IGLL1
Synonym(s): Immunoglobulin-related 14.1 protein; Lamda5, 14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2

The IGLL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with agammaglobulinemia (PMID: 9419212).

IKBKB
Synonym(s): IKK-beta; IKK2; IKKB; IMD15; NFKBIKB

The IKBKB gene is associated with autosomal recessive combined immunodeficiency due to IKBKB deficiency (MedGen UID: 816373).

IL10
Synonym(s): CSIF; GVHDS; IL-10; IL10A; TGIF

The IL10 gene is associated with autosomal recessive infantile onset inflammatory bowel disease (IBD) due to IL-10 deficiency (PMID: 22549091, 24216686).

IL10RA
Synonym(s): CD210; CD210a; CDW210A; HIL-10R; IL-10R1; IL10R

The IL10RA gene is associated with autosomal recessive early onset inflammatory bowel disease (IBD), due to interleukin 10 receptor alpha deficiency (MedGen UID: 442630).

IL10RB
Synonym(s): CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IL-10R2

The IL10RB gene is associated with autosomal recessive inflammatory bowel disease (IBD) due to interleukin 10 receptor beta deficiency (MedGen UID: 393403).

IL12B
Synonym(s): CLMF; CLMF2; IL-12B; IMD28; IMD29; NKSF; NKSF2

The IL12B gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease due to interleukin 12 deficiency (MedGen UID: 807417).

IL12RB1
Synonym(s): CD212; IL-12BETA1; IL-12R-BETA1; IL12RB; IMD30

The IL12RB1 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 807419).

IL17F
Synonym(s): CANDF6; IL-17F; ML-1; ML1

The IL17F gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant chronic mucocutaneous candidiasis (PMID: 21350122; MedGen UID: 462755).

IL17RA
Synonym(s): CANDF5; CD217; CDw217; hIL-17R; IL-17RA; IL17R

The IL17RA gene is associated with autosomal recessive chronic mucocutaneous candidiasis (MedGen UID: 462752).

IL17RC
Synonym(s): CANDF9; IL17-RL; IL17RL

The IL17RC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic mucocutaneous candidiasis (PMID: 25918342; MedGen UID: 850718).

IL1RN
Synonym(s): DIRA; ICIL-1RA; IL-1ra; IL-1ra3; IL-1RN; IL1F3; IL1RA; IRAP; MVCD4

The IL1RN gene is associated with autosomal recessive interleukin 1 receptor antagonist deficiency (DIRA) (MedGen UID: 411230).

IL21
Synonym(s): CVID11; IL-21; Za11

The IL21 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive early onset inflammatory bowel disease and common variable immunodeficiency (CVID) (PMID: 24746753).

IL21R
Synonym(s): CD360; NILR

The IL21R gene is associated with autosomal recessive combined immunodeficiency due to interleukin 21 receptor deficiency (MedGen UID: 767601).

IL2RA
Synonym(s): CD25; IDDM10; IL2R; IMD41; p55; TCGFR

The IL2RA gene is associated with autosomal recessive CD25 deficiency (MedGen UID: 377894).

IL2RG
Synonym(s): CD132; CIDX; IL-2RG; IMD4; P64; SCIDX; SCIDX1

The IL2RG gene is associated with X-linked recessive severe combined immunodeficiency (MedGen UID: 220906).

IL36RN
Synonym(s): FIL1; FIL1(DELTA); FIL1D; IL-36Ra; IL1F5; IL1HY1; IL1L1; IL1RP3; IL36RA; PSORP; PSORS14

The IL36RN gene is associated with autosomal recessive deficiency of interleukin-36 receptor antagonist (DITRA) (MedGen UID: 473074).

IL7R
Synonym(s): CD127; CDW127; IL-7R-alpha; IL7RA; ILRA

The IL7R gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 373235).

IRAK4
Synonym(s): IPD1; IRAK-4; NY-REN-64; REN64

The IRAK4 gene is associated with autosomal recessive IRAK-4 deficiency (MedGen UID: 375137).

IRF7
Synonym(s): IMD39; IRF-7H; IRF7A; IRF7B; IRF7C; IRF7H

The IRF7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive severe influenza disease (PMID: 25814066).

IRF8
Synonym(s): CSBP; H-ICSBP; ICSBP; ICSBP1; IMD32A; IMD32B; IRF-8

The IRF8 gene is associated with autosomal dominant susceptibility to mycobacterial disease (MedGen UID: 814919). Additionally, the IRF8 gene has preliminary evidence supporting a correlation with autosomal recessive susceptibility to mycobacterial disease (MedGen UID: 865178) and autosomal recessive natural killer (NK) cell deficiency (PMID: 27893462).

ISG15
Synonym(s): G1P2; hUCRP; IFI15; IMD38; IP17; UCRP

The ISG15 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MSMD) (MedGen UID: 863730).

ITCH
Synonym(s): ADMFD; AIF4; AIP4; NAPP1

The ITCH gene is associated with autosomal recessive multisystem autoimmune disease with facial dysmorphism (ADMFD) (MedGen UID: 461999).

ITGB2
Synonym(s): CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7

The ITGB2 gene is associated with autosomal recessive leukocyte adhesion deficiency type 1 (LAD1) (MedGen UID: 348448).

ITK
Synonym(s): EMT; LPFS1; LYK; PSCTK2

The ITK gene is associated with autosomal recessive ITK deficiency (MedGen UID: 765548).

J
JAGN1
Synonym(s): GL009; SCN6

The JAGN1 gene is associated with autosomal recessive severe congenital neutropenia 6 (SCN6) (MedGen UID: 807538).

JAK3
Synonym(s): JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK

The JAK3 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 331474).

K
L
LAMTOR2
Synonym(s): ENDAP; HSPC003; MAPBPIP; MAPKSP1AP; p14; Ragulator2; ROBLD3

The LAMTOR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive immunodeficiency due to MAPBP-interacting protein deficiency (PMID: 17195838).

LCK
Synonym(s): IMD22; LSK; p56lck; pp58lck; YT16

The LCK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (PMID: 22985903).

LIG4
Synonym(s): DNA joinase; DNA ligase 4; DNA ligase IV; DNA repair enzyme; LIG4S; Polydeoxyribonucleotide synthase [ATP] 4); Polynucleotide ligase; Sealase

The LIG4 gene is associated with autosomal recessive LIG4 syndrome (MedGen UID: 339855).

LPIN2

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

LRBA
Synonym(s): BGL; CDC4L; CVID8; LAB300; LBA

The LRBA gene is associated with autosomal recessive LRBA deficiency (MedGen UID: 766426).

LYST
Synonym(s): CHS; CHS1

The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (CHS) (MedGen UID: 3347).

M
MAGT1
Synonym(s): bA217H1.1; IAP; MRX95; OST3B; PRO0756; XMEN

The MAGT1 gene is associated with X-linked recessive MAGT1-CDG (also known as immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia [XMEN]) (MedGen UID: 477076).

MALT1
Synonym(s): IMD12; MLT; MLT1; PCASP1

The MALT1 gene is associated with autosomal recessive combined immunodeficiency due to MALT1 deficiency (MedGen UID: 815913).

MAP3K14
Synonym(s): FTDCR1B; HS; HSNIK; NIK

The MAP3K14 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency due to NF-κB-inducing kinase deficiency (PMID: 25406581).

MEFV
Synonym(s): FMF; MEF; TRIM20

The MEFV gene is associated with autosomal recessive familial Mediterranean fever (FMF) (MedGen UID: 45811) and has been reported in autosomal dominant FMF (MedGen UID: 341987) (PMID: 18648395, 20485448, 23505238).

MOGS
Synonym(s): CDG2B; CWH41; DER7; GCS1

MOGS is associated with autosomal recessive MOGS-congenital disorder of glycosylation (CDG-IIb) (MedGen UID 342954).

MVK
Synonym(s): LRBP; MK; MVLK; POROK3

The MVK gene is associated with autosomal recessive mevalonate kinase deficiency which encompasses hyper-IgD syndrome (MedGen UID: 140768) and autosomal recessive mevalonic aciduria (MedGen UID: 368373). In addition, the MVK gene is associated with autosomal dominant porokeratosis (MedGen UID: 401352).

MYD88
Synonym(s): MYD88D

The MYD88 gene is associated with autosomal recessive recurrent pyogenic bacterial infections due to MyD88 deficiency (MedGen UID: 383023)

N
NBN
Synonym(s): AT-V1; AT-V2; ATV; NBS; NBS1; P95

The NBN gene is associated with autosomal dominant predisposition to breast cancer and possibly ovarian, endometrial, and prostate cancer (PMID: 31406321, 26720728, 30733081, 29988077, 30730552, 23149842, 31322208) and autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

NCF2
Synonym(s): NCF-2; NOXA2; P67-PHOX; P67PHOX

The NCF2 gene is associated with autosomal recessive chronic granulomatous disease type 2 (CGD2) (MedGen UID: 383869).

NCF4
Synonym(s): CGD3; NCF; P40PHOX; SH3PXD4

The NCF4 gene is associated with autosomal recessive chronic granulomatous disease type III (CGD3) (MedGen UID: 462759).

NFAT5
Synonym(s): Glutamine rich protein H65; NFAT-like protein 1; Osmotic response element-binding protein; T-cell transcription factor NFAT5; TonE-binding protein; Tonicity-responsive enhancer-binding protein, NF-AT5, NFATL1, NFATZ, OREBP, TONEBP

The NFAT5 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant immunodeficiency and autoimmune enterocolopathy (PMID: 25667416).

NFKB2
Synonym(s): CVID10; H2TF1; LYT-10; LYT10; NF-kB2; p100; p49/p100; p52

The NFKB2 gene is associated with autosomal dominant common variable immunodeficiency due to NFKB2 deficiency (MedGen UID: 816321).

NFKBIA
Synonym(s): IKBA; MAD-3; NFKBI

The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).

NHEJ1
Synonym(s): XLF

The NHEJ1 gene is associated with autosomal recessive severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MedGen UID: 369590).

NHP2
Synonym(s): DKCB2; NHP2P; NOLA2

The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).

NLRC4
Synonym(s): AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB; CLANC; CLAND; CLR2.1; FCAS4; IPAF

The NLRC4 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (FCAS) (MedGen UID: 863713). Additionally, the gene has preliminary evidence supporting an association with autosomal dominant autoinflammation with infantile entercolitis (PMID: 25217960).

NLRP12
Synonym(s): CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO; RNO2

The NLRP12 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (FCAS) (MedGen UID 435869).

NLRP3
Synonym(s): AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1; FCAS; FCAS1; FCU; MWS; NALP3; PYPAF1

The NLRP3 gene is associated with autosomal dominant cryopyrin-associated periodic syndrome (CAPS) (MedGen UID: 412215).

NOD2
Synonym(s): ACUG; BLAU; CARD15; CD; CLR16.3; IBD1; NLRC2; NOD2B; PSORAS1

The NOD2 gene is associated with autosomal dominant Blau syndrome (MedGen UID: 348835). In addition, several NOD2 variants have been associated with an increased risk of Crohn’s disease (PMID: 19713276).

NOP10
Synonym(s): DKCB1; NOLA3; NOP10P

The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).

O
ORAI1
Synonym(s): CRACM1; IMD9; ORAT1; TAM2; TMEM142A

The ORAI1 gene is associated with autosomal dominant tubular aggregate myopathy 2 (TAM2) (MedGen UID: 786453) and autosomal recessive ORAI1 deficiency (MedGen UID: 440578).

P
PARN
Synonym(s): DAN; DEADENYLATING NUCLEASE; DKCB6; PFBMFT4; POLY(A)-SPECIFIC RIBONUCLEASE

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

PGM3
Synonym(s): AGM1; IMD23; PAGM; PGM 3

The PGM3 gene is associated with autosomal recessive PGM3-congenital disorder of glycosylation (CDG) (MedGen UID: 786092).

PIK3CD
Synonym(s): APDS; IMD14; p110D; P110DELTA; PI3K

The PIK3CD gene is associated with autosomal dominant activated phosphoinositide 3-kinase δ (PI3K-delta) syndrome (MedGen UID: 811535).

PIK3R1
Synonym(s): AGM7; GRB1; IMD36; p85; p85-ALPHA

The PIK3R1 gene is associated with autosomal dominant SHORT syndrome (MedGen UID: 164212) and autosomal dominant activated PI3K-delta syndrome (PMID: 25133428). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive agammaglobulinemia (PMID: 22351933).

PLCG2
Synonym(s): APLAID; FCAS3; PLC-gamma-2; PLC-IV

The PLCG2 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (MedGen UID: 482544).

PMM2
Synonym(s): CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2

The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).

PMS2
Synonym(s): HNPCC4; MLH4; PMS2CL; PMSL2

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

PNP
Synonym(s): NP; PRO1837; PUNP

The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).

POLE

The POLE gene is associated with an increased risk for autosomal dominant colonic adenomatous polyps and colon cancer (PMID: 23263490, 26133394, 23585368, 24501277, 24788313). Additionally, the POLE gene is associated with autosomal recessive facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome (PMID: 23230001, 25948378).

PRF1
Synonym(s): FLH2; HPLH2; P1; PFN1; PFP

The PRF1 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 2 (FHL2) (MedGen UID: 400366). There is also preliminary evidence supporting a correlation with non-Hodgkin lymphoma (PMID: 25215106, 23734337, 24390453).

PRKCD
Synonym(s): ALPS3; CVID9; MAY1; nPKC-delta; PKCD

The PRKCD gene is associated with autosomal recessive PRKC delta deficiency (MedGen UID: 816258).

PRKDC
Synonym(s): DNA-PKcs; DNAPK; DNPK1; HYRC; HYRC1; IMD26; p350; XRCC7

The PRKDC gene is associated with autosomal recessive severe combined immunodeficiency (SCID) with sensitivity to ionizing radiation (MedGen UID: 807347).

PSMB8
Synonym(s): ALDD; D6S216; D6S216E; JMP; LMP7; NKJO; PSMB5i; RING10

The PSMB8 gene is associated with autosomal recessive proteasome-associated autoinflammatory syndrome (PRAAS) (MedGen UID: 376827).

PSTPIP1
Synonym(s): CD2BP1; CD2BP1L; CD2BP1S; H-PIP; PAPAS; PSTPIP

The PSTPIP1 gene is associated with autosomal dominant pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome (MedGen UID: 346801).

PTPRC
Synonym(s): B220; CD45; CD45R; GP180; L-CA; LCA; LY5; T200

The PTPRC gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 373235).

Q
R
RAB27A
Synonym(s): GS2; HsT18676; RAB27; RAM

The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).

RAC2
Synonym(s): EN-7; Gx; HSPC022; p21-Rac2

The RAC2 gene is associated with autosomal dominant neutrophil immunodeficiency syndrome (MedGen UID: 374920) and autosomal recessive common variable immunodeficiency (PMID: 25512081).

RAG1
Synonym(s): RAG-1; RNF74

The RAG1 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 321935). Additionally, the RAG1 gene has preliminary evidence supporting a correlation with autosomal recessive destructive midline granulomatous disease (MedGen UID: 435945).

RAG2
Synonym(s): RAG-2

The RAG2 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 321935). Additionally, the RAG2 gene has preliminary evidence supporting a correlation with autosomal recessive combined cellular and humoral immunodeficiency with granulomatous disease (MedGen UID: 435945).

RBCK1
Synonym(s): C20orf18; HOIL-1; HOIL1; PBMEI; PGBM1; RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4

The RBCK1 gene is associated with autosomal recessive polyglucosan body myopathy with or without immunodeficiency (PGBM1) (MedGen UID: 863042).

RFX5

The RFX5 gene is associated with autosomal recessive hereditary major histocompatibility complex class II deficiency (MHCII), also known as bare lymphocyte syndrome (BLS), type II (MedGen UID: 444051).

RFXANK
Synonym(s): ANKRA1; BLS; F14150_1; RFX-B

The RFXANK gene is associated with autosomal recessive major histocompatibility complex class II (MHCII), also known as bare lymphocyte syndrome, type II (MedGen UID: 444051).

RFXAP

The RFXAP gene is associated with autosomal recessive hereditary major histocompatibility complex class II deficiency (MHCII), also known as bare lymphocyte syndrome (BLS), type II (MedGen UID: 444051).

RHOH
Synonym(s): ARHH; TTF

The RHOH gene is associated with autosomal recessive T-cell immunodeficiency with epidermodysplasia verruciformis (PMID: 22850876).

RMRP
Synonym(s): CHH; NME1; RMRPR; RRP2

The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders (MedGen UID: 375972).

RNASEH2A
Synonym(s): AGS4; JUNB; RNASEHI; RNHIA; RNHL

The RNASEH2A gene is associated with autosomal recessive Aicardi Goutieres syndrome 4 (AGS4) (MedGen UID: 332084).

RNASEH2B
Synonym(s): AGS2; DLEU8

The RNASEH2B gene is associated with autosomal recessive Aicardi Goutieres syndrome 2 (AGS2) (MedGen UID: 483677).

RNASEH2C
Synonym(s): AGS3; AYP1

The RNASEH2C gene is associated with autosomal recessive Aicardi Goutieres syndrome 3 (AGS3) (MedGen UID: 324389).

RORC
Synonym(s): IMD42; NR1F3; RORG; RZR-GAMMA; RZRG; TOR

The RORC gene is associated with autosomal recessive chronic mucocutaneous candidiasis (PMID: 26160376).

RTEL1
Synonym(s): C20orf41; DKCA4; DKCB5; NHL; PFBMFT3; RTEL

The RTEL1 gene is associated with autosomal recessive dyskeratosis congenita (DKC) (MedGen UID: 767570) and autosomal dominant pulmonary fibrosis (MedGen UID: 901644).

S
SAMHD1
Synonym(s): CHBL2; DCIP; HDDC1; MOP-5; SBBI88

The SAMHD1 gene is associated with autosomal recessive Aicardi-Goutieres syndrome 5 (AGS5) (MedGen UID 413116).

SEMA3E
Synonym(s): coll-5; M-SEMAH; M-SemaK; SEMAH

The SEMA3E gene has preliminary evidence supporting a correlation with Kallmann syndrome (PMID: 25985275).

SH2D1A
Synonym(s): DSHP; EBVS; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; XLP; XLPD; XLPD1

The SH2D1A gene is associated with X-linked recessive lymphoproliferative syndrome 1 (XLP1) (MedGen UID: 358381).

SH3BP2
Synonym(s): 3BP-2; 3BP2; CRBM; CRPM; RES4-23

The SH3BP2 gene is associated with autosomal dominant cherubism (MedGen UID: 40219).

SLC29A3
Synonym(s): ENT3; HCLAP; HJCD; PHID

The SLC29A3 is associated with autosomal recessive histiocytosis-lymphadenopathy plus syndrome (MedGen UID: 400532).

SLC35C1
Synonym(s): CDG2C; FUCT1

SLC35C1 is associated with autosomal recessive SLC35C1-congenital disorder of glycosylation (CDG-IIc) (MedGen UID 162913).

SLC37A4
Synonym(s): G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19

The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type Ib (GSD Ib) (MedGen UID: 78644).

SLC7A7
Synonym(s): LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1

The SLC7A7 gene is associated with autosomal recessive lysinuric protein intolerance (LPI) (MedGen UID: 75704).

SMARCAL1
Synonym(s): HARP; HHARP

The SMARCAL1 gene is associated with autosomal recessive Schimke immunoosseous dysplasia (SIOD) (MedGen UID: 164078).

SP110
Synonym(s): IFI41; IFI75; IPR1; VODI

The SP110 gene is associated with autosomal recessive hepatic venoocclusive disease with immunodeficiency (VODI) (MedGen UID: 344659).

SPINK5
Synonym(s): LEKTI; LETKI; NETS; NS; VAKTI

The SPINK5 gene is associated with autosomal recessive Netherton syndrome (MedGen UID: 78578).

STAT1
Synonym(s): CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3; STAT91

The STAT1 gene is associated with autosomal recessive STAT1 deficiency (MedGen UID: 462438), autosomal dominant Mendelian susceptibility to mycobacterial disease (MedGen UID: 862387), and autosomal dominant STAT1 gain-of-function associated chronic mucocutaneous candidiasis (MedGen UID: 481620).

STAT2
Synonym(s): IMD44; ISGF-3; P113; STAT113

The STAT2 gene is associated with autosomal recessive STAT2 deficiency (MedGen UID: 851870).

STAT3
Synonym(s): ADMIO; ADMIO1; APRF; HIES

The STAT3 gene is associated with autosomal dominant Hyper-IgE syndrome (MedGen UID: 483748) and autosomal dominant STAT3 gain-of-function (MedGen UID: 925793).

STAT5B
Synonym(s): STAT5

The STAT5B gene is associated with autosomal recessive growth hormone insensitivity with immunodeficiency (MedGen UID 343379).

STIM1
Synonym(s): D11S4896E; GOK; IMD10; STRMK; TAM; TAM1

The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 98050), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).

STK4
Synonym(s): KRS2; MST1; YSK3

The STK4 gene is associated with autosomal recessive combined immunodeficiency due to MST1 deficiency (MedGen UID: 766857).

STX11
Synonym(s): FHL4; HLH4; HPLH4

The STX11 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 4 (FHL4) (MedGen UID: 350245).

STXBP2
Synonym(s): FHL5; Hunc18b; MUNC18-2; pp10122; UNC18-2; UNC18B

The STXBP2 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 5 (FHL5) (MedGen UID: 416514).

T
TAP1
Synonym(s): ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1; RING4; TAP1*0102N; TAP1N

The TAP1 gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class I deficiency, also known as bare lymphocyte syndrome (BLS) type I (MedGen UID: 346868).

TAP2
Synonym(s): ABC18; ABCB3; APT2; D6S217E; PSF-2; PSF2; RING11

The TAP2 gene is associated with autosomal recessive hereditary major histocompatibility complex class I deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (MedGen UID: 346868).

TAPBP
Synonym(s): NGS17; TAPA; TPN; TPSN

The TAPBP gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary major histocompatibility complex class I deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (PMID: 12149238).

TAZ
Synonym(s): Barth syndrome; BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1

The TAZ gene is associated with X-linked Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893), and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

TBK1
Synonym(s): FTDALS4; NAK; T2K

The TBK1 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) (MedGen UID: 902979). Additionally the TBK1 gene has preliminary evidence supporting a correlation with autosomal dominant herpes simplex encephalitis (PMID: 22851595, 26513235) and normal-tension glaucoma (PMID: 24699864).

TBX1
Synonym(s): CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS

The TBX1 gene is associated with autosomal dominant DiGeorge/Velocardiofacial syndrome (MedGen UID: 4297), and is one of the commonly deleted genes in the recurrent 22q11.2 microdeletion.

TCN2
Synonym(s): D22S676; D22S750; II; TC; TC II; TC-2; TC2; TCII

The TCN2 gene is associated with autosomal recessive transcobalamin II deficiency (MedGen UID: 137976).

TERC
Synonym(s): DKCA1; hTR; PFBMFT2; SCARNA19; TR; TRC3

The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).

TERT
Synonym(s): CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT

The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).

TICAM1
Synonym(s): IIAE6; MyD88-3; PRVTIRB; TICAM-1; TRIF

The TICAM1 gene (also known as TRIF) is associated with autosomal recessive susceptibility to herpes simplex encephalitis (HSE) (MedGen UID: 766783). Autosomal dominant inheritance has also been suggested but has not been definitively proven (PMID: 22105173).

TINF2
Synonym(s): DKCA3; TIN2

The TINF2 gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 462795).

TLR3
Synonym(s): CD283; IIAE2

The TLR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with susceptibility to herpes simplex encephalitis (PMID: 21911422, 25339207, 26513235).

TMC6
Synonym(s): EV1; EVER1; EVIN1; LAK-4P

The TMC6 gene is associated with autosomal recessive epidermodysplasia verruciformis (EV) (MedGen UID: 41831).

TMC8
Synonym(s): EV2; EVER2; EVIN2

The TMC8 gene is associated with autosomal recessive epidermodysplasia verruciformis (EV) (MedGen UID: 41831).

TMEM173
Synonym(s): ERIS; hMITA; hSTING; MITA; MPYS; NET23; SAVI; STING

The TMEM173 gene is associated with autosomal dominant infantile-onset STING-associated vasculopathy (SAVI) (MedGen UID: 863159).

TNFRSF13B
Synonym(s): CD267; CVID; CVID2; IGAD2; RYZN; TACI; TNFRSF14B

The TNFRSF13B gene, also known as TACI, is associated with autosomal recessive and dominant common variable immunodeficiency (CVID) due to TACI deficiency (MedGen UID: 461704).

TNFRSF13C
Synonym(s): BAFF-R; BAFFR; BROMIX; CD268; CVID4; prolixin

The TNFRSF13C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive common variable immunodeficiency (PMID: 19666484).

TNFRSF1A
Synonym(s): CD120a; FPF; MS5; p55; p55-R; p60; TBP1; TNF-R; TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR1-d2; TNFR55; TNFR60

The TNFRSF1A gene is associated with autosomal dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (MedGen UID: 226899).

TNFRSF4
Synonym(s): ACT35; CD134; IMD16; OX40; TXGP1L

The TNFRSF4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (PMID: 23897980).

TNFSF12
Synonym(s): APO3L; DR3LG; TNLG4A; TWEAK

The TNFSF12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (PMID: 23493554).

TPP2
Synonym(s): TPP-2; TPP-II; TPPII

The TPP2 gene is associated with autosomal recessive Evans syndrome, immunodeficiency, and premature immunosenescence (PMID: 25414442).

TRAF3
Synonym(s): CAP-1; CAP1; CD40bp; CRAF1; IIAE5; LAP1

The TRAF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to herpes simplex encephalitis 3 (MedGen UID: 766782).

TRAF3IP2
Synonym(s): ACT1; C6orf2; C6orf4; C6orf5; C6orf6; CANDF8; CIKS; PSORS13

The TRAF3IP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic mucocutaneous candidiasis (PMID: 24120361).

TREX1
Synonym(s): AGS1; CRV; DRN3; HERNS

The TREX1 gene is associated with autosomal recessive (and possibly autosomal dominant) Aicardi-Goutieres syndrome 1 (AGS1) (MedGen ID: 162912), autosomal dominant familial chilblain lupus (CHBL1) (MedGen UID: 479249), and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL) (MedGen UID: 348124). In addition, the TREX1 has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818).

TRNT1
Synonym(s): CCA1; CGI-47; MtCCA; RPEM; SIFD

The TRNT1 gene is associated with autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) (MedGen UID: 863609).

TTC7A
Synonym(s): GIDID; MINAT; TTC7

The TTC7A gene is associated with autosomal recessive gastrointestinal defects and immunodeficiency (GIDID) syndrome (MedGen UID: 65090).

TYK2
Synonym(s): IMD35; JTK1

The TYK2 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 409751).

U
UNC13D
Synonym(s): FHL3; HLH3; HPLH3; Munc13-4

The UNC13D gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 3 (FHL3) (MedGen UID: 332383).

UNC93B1
Synonym(s): IIAE1; Unc-93B1; UNC93; UNC93B

The UNC93B1 gene is associated with autosomal recessive susceptibility to herpes simplex encephalitis (MedGen UID: 413772).

UNG
Synonym(s): DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2

The UNG gene is associated with autosomal recessive Hyper IgM syndrome type 5 (HIGM5) (MedGen UID: 328420).

USB1

The USB1 gene is associated with autosomal recessive poikiloderma with neutropenia (PN) (MedGen UID: 388129). In addition, there is preliminary evidence of an association with autosomal recessive dyskeratosis congenita (PMID: 20817924, 25044170).

V
VPS13B
Synonym(s): CHS1; COH1

The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).

VPS45
Synonym(s): H1; H1VPS45; SCN5; VPS45A; VPS45B; VPS54A; VSP45; VSP45A

The VPS45 gene is associated with autosomal recessive severe congenital neutropenia (SCN5) (MedGen UID: 815361).

W
WAS
Synonym(s): IMD2; SCNX; THC; THC1; WASP; WASPA

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.

WIPF1
Synonym(s): PRPL-2; WAS2; WASPIP; WIP

The WIPF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Wiskott-Aldrich syndrome 2 (WAS2) (MedGen UID: 482631; PMID: 22231303).

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
XIAP
Synonym(s): API3; BIRC4; hIAP-3; hIAP3; IAP-3; ILP1; MIHA; XLP2

The XIAP gene is associated with X-linked lymphoproliferative syndrome 2 (XLP2) (MedGen UID: 336848).

Y
Z
ZAP70
Synonym(s): ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70

The ZAP70 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 376544).

ZBTB24
Synonym(s): BIF1; ICF2; PATZ2; ZNF450

The ZBTB24 gene is associated with autosomal recessive immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (MedGen UID: 481378).