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: 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.

Clinical Area: Metabolic Newborn Screening and Immunology

407 genes

Invitae Primary Immunodeficiency Panel

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The Invitae Primary Immunodeficiency Panel analyzes genes that are associated with inherited disorders of the immune system. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test for 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.

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 86 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 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).

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

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

Gene
A
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).

ACP5

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

ACTB

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943) and juvenile-onset dystonia (MedGen UID: 339494).

ADA

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

ADA2

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

ADAM17

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

ADAR

The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071) and autosomal recessive Aicardi Goutieres syndrome (AGS) (MedGen UID: 761287).

AICDA

The AICDA gene is associated with autosomal recessive, and rarely, autosomal dominant, hyper-IgM syndrome (HIGM) (MedGen UID: 354548).

AIRE

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

AK2

The AK2 gene is associated with autosomal recessive reticular dysgenesis (MedGen UID: 124417).

ALG6

The ALG6 gene is associated with autosomal recessive ALG6-congenital disorder of glycosylation (CDG-Ic) (MedGen UID 400469).

ANGPT1

The ANGPT1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant hereditary angioedema (PMID: 28601681).

ANKZF1

The ANKZF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with infantile onset inflammatory bowel disease (PMID: 28302725).

AP3B1

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

AP3D1

The AP3D1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 36313). Additionally, the AP3D1 gene has preliminary evidence supporting a correlation with autosomal dominant schizophrenia (PMID: 24463507) and autosomal dominant autism spectrum disorder (PMID: 25363768, 29346770).

ARHGEF1

The ARHGEF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive ARHGEF1-related primary antibody deficiency (MedGen UID: 941856).

ARPC1B

The ARPC1B gene is associated with autosomal recessive ARPC1B deficiency (MedGen UID: 1618052).

ASAH1

The ASAH1 gene is associated with autosomal recessive acid ceramidase deficiency, also known as Farber lipogranulomatosis or Farber disease (MedGen UID: 78654), distal osteolysis (PMID: 26945816), polyarticular arthritis and SMA (PMID: 27650050), and spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME), also known as Jankovic Rivera syndrome (MedGen UID: 371854).

ATM

The ATM gene is associated with autosomal dominant predisposition to breast, pancreatic (PMID: 26483394) and prostate cancers (PMID: 16998505, 15928302, 26662178, 26483394, 27324988) and autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439). Additionally, there is preliminary evidence suggesting ATM is associated with autosomal dominant predisposition to other cancer types including stomach, bladder and colon; although available evidence is insufficient to make a determination regarding these relationships (PMID: 26098866, 26662178, 15928302, 29348823, 15928302).

ATP6AP1

The ATP6AP1 gene is associated with X-linked recessive ATP6AP1 deficiency (MedGen UID: 934786).

B
B2M

The B2M gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class I deficiency (PMID: 25702838). Additionally, the B2M gene has preliminary evidence supporting a correlation with autosomal dominant amyloidosis (PMID: 22693999).

BACH2

The BACH2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant BACH2 deficiency (PMID: 28530713).

BCL10

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

BCL11B

The BCL11B gene is associated with autosomal dominant BCL11B deficiency (MedGen UID: 934623).

BLM

The BLM gene is associated with autosomal recessive Bloom syndrome (MedGen UID: 2685).

BLNK

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

BLOC1S3

The BLOC1S3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854728).

BLOC1S6

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

BTK

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
C17orf62

The CYBC1 gene is associated with autosomal recessive chronic granulomatous disease (MedGen UID: 775724).

C1QA

The C1QA gene is associated with autosomal recessive C1q deficiency (MedGen UID: 462252).

C1QB

The C1QB gene is associated with autosomal recessive C1q deficiency (MedGen UID: 462252).

C1QC

The C1QC gene is associated with autosomal recessive C1q deficiency (MedGen UID: 462252).

C1S

The C1S gene is associated with autosomal recessive C1s deficiency (MedGen UID: 462428) and autosomal dominant periodontal Ehlers-Danlos syndrome (pEDS) (MedGen UID: 934648).

C2

The C2 gene is associated with autosomal recessive complement component 2 (C2) deficiency (MedGen UID: 461625).

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).

C5

The C5 gene is associated with autosomal recessive complement component 5 (C5) deficiency (MedGen UID: 91003).

C6

The C6 gene is associated with autosomal recessive complement component 6 (C6) deficiency (MedGen UID: 436639).

C7

The C7 gene is associated with autosomal recessive complement component 7 (C7) deficiency (MedGen UID: 355270).

C8A

The C8A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive C8 alpha deficiency (MedGen UID: 462431).

C8B

The C8B gene is associated with autosomal recessive C8 beta deficiency (MedGen UID: 462430).

C9

The C9 gene is associated with autosomal recessive complement component 9 (C9) deficiency (MedGen UID: 462539).

CARD11

The CARD11 gene is associated with autosomal recessive combined immunodeficiency due to CARD11 deficiency (MedGen UID: 767600), autosomal dominant B-cell expansion with NFKB and T-cell anergy (BENTA) (MedGen UID: 1641265) and autosomal dominant immunodeficiency with atopic disease (MedGen UID: 1627819).

CARD14

The CARD14 gene is associated with autosomal dominant CAMPS (CARD14-mediated psoriasis) (MedGen UID: 351141) and autosomal dominant pityriasis rubra pilaris (MedGen UID: 45939). Additionally, the CARD14 gene has preliminary evidence supporting a correlation with autosomal dominant atopic dermatitis (PMID: 30248356).

CARD8

The CARD8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant Crohn’s disease (PMID: 29408806).

CARD9

The CARD9 gene is associated with autosomal recessive CARD9 deficiency (MedGen UID: 347128).

CARMIL2

The CARMIL2 gene is associated with autosomal recessive RLTPR (CARMIL2) deficiency (MedGen UID: 922267).

CASP10

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

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

CBL

The CBL gene is associated with autosomal dominant Noonan-like syndrome with or without juvenile myelomonocytic leukemia (MedGen UID: 462153).

CCBE1

The CCBE1 gene is associated with autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome (MedGen UID: 137946).

CD19

The CD19 gene is associated with autosomal recessive common variable immune deficiency (CVID) due to CD19 deficiency (MedGen UID: 462088).

CD247

The CD247 gene is associated with autosomal recessive severe combined immunodeficiency due to CD3-zeta deficiency (MedGen UID: 346666).

CD27

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

CD3D

The CD3D gene is associated with autosomal recessive severe combined immunodeficiency due to CD3-delta deficiency (MedGen UID: 816477).

CD3E

The CD3E gene is associated with autosomal recessive severe combined immunodeficiency due to CD3-epsilon deficiency (MedGen UID: 816457).

CD3G

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

CD40

The CD40 gene is associated with autosomal recessive hyper IgM syndrome (HIGM) (MedGen UID: 328419).

CD40LG

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

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).

CD79A

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

CD79B

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

CD81

The CD81 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive common variable immunodeficiency due to CD81 deficiency (MedGen UID: 462091; PMID: 20237408).

CD8A

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

CDC42

The CDC42 gene is associated with autosomal dominant Takenouchi-Kosaki syndrome (MedGen UID: 906646).

CDCA7

The CDCA7 gene is associated with autosomal recessive immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (MedGen UID: 934766).

CEBPE

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

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).

CFD

The CFD gene is associated with autosomal recessive complement factor D deficiency (CFDD) (MedGen UID: 97989).

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).

CFP

The CFP gene is associated with X-linked recessive properdin deficiency (MedGen UID: 333322).

CHD7

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567) and Kallmann syndrome (MedGen UID: 765467).

CIB1

The CIB1 gene is associated with autosomal recessive epidermodysplasia verruciformis due to CIB1 deficiency (MedGen UID: 41831).

CIITA

The CIITA gene is associated with autosomal recessive major histocompatibility complex (MHC) class II deficiency (MedGen UID: 444051).

CLCN7

The CLCN7 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 370598), autosomal dominant osteopetrosis (MedGen UID: 465707), and autosomal dominant hypopigmentation, organomegaly, and delayed myelination and development (HOD) (MedGen UID: 1672512).

CLPB

The CLPB gene is associated with autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 907853).

COL7A1

The COL7A1 gene is associated with autosomal dominant dystrophic epidermolysis bullosa (DDEB) (MedGen UID: 37179) and autosomal recessive dystrophic epidermolysis bullosa (RDEB) (MedGen UID: 36311).

COPA

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

CORO1A

The CORO1A gene is associated with autosomal recessive severe combined immunodeficiency due to coronin-1A deficiency (MedGen UID: 815713).

CR2

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

The CSF2RA gene is associated with X-linked primary pulmonary alveolar proteinosis (PAP) (MedGen ID: 393858). Of note, CSF2RA is located in the pseudoautosomal region of the X chromosome; therefore PAP-related CSF2RA variants are inherited in an autosomal recessive fashion in both males and females (PMID: 20622029, 25425184).

CSF2RB

The CSF2RB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive pulmonary alveolar proteinosis (PAP) (MedGen UID: 482204).

CSF3R

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

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).

CTLA4

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

CTPS1

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

CTSC

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

CXCR2

The CXCR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive myelokathexis (MedGen UID: 1682018).

CXCR4

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

CYBA

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

CYBB

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

CYP27A1

The CYP27A1 gene is associated with autosomal recessive cerebrotendinous xanthomatosis (CTX) (MedGen UID: 116041).

D
DCLRE1B

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

The DCLRE1C gene is associated with autosomal recessive severe combined immunodeficiency due to DCLRE1C (Artemis) deficiency (MedGen UID: 355454) including Omenn syndrome (MedGen UID: 398130).

DDX58

The DDX58 gene is associated with autosomal dominant Singleton-Merten syndrome (MedGen UID: 907372).

DEF6

The DEF6 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with DEF6 deficiency (PMID: 31308374).

DGAT1

The DGAT1 gene is associated with autosomal recessive congenital chronic diarrhea (MedGen UID: 862953).

DIAPH1

The DIAPH1 gene is associated with autosomal recessive seizures, cortical blindness, and microcephaly syndrome (SCBMS) (MedGen UID: 894797) and autosomal dominant deafness with or without thrombocytopenia (DFNA1) (PMID: 26912466, 28815995).

DKC1

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

DNAJC21

The DNAJC21 gene is associated with autosomal recessive Schwachman-Diamond syndrome due to DNAJC21 deficiency (MedGen UID: 1640046).

DNASE1L3

The DNASE1L3 gene is associated with autosomal recessive systemic lupus erythematosus (MedGen UID: 6146).

DNASE2

The DNASE2 gene is associated with autosomal recessive DNase II deficiency (PMID: 29259162).

DNMT3B

The DNMT3B gene is associated with autosomal recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome (MedGen UID: 1636193).

DOCK2

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

DOCK8

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

DSG1

The DSG1 variant is associated with autosomal dominant keratosis palmoplantaris striata (MedGen UID: 419717) and autosomal recessive erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (MedGen UID: 816049).

DTNBP1

The DTNBP1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 481386).

DUOX2

The DUOX2 gene is associated with autosomal dominant partial iodide organification defect (PIOD) (PMID: 24423310, 21565790, 12110737) and autosomal recessive thyroid dyshormonogenesis (MedGen UID: 375935). Additionally, the DUOX2 gene has preliminary evidence supporting a correlation with inflammatory bowel disease (PMID: 28683258).

E
EFL1

The EFL1 gene is associated with autosomal recessive Shwachman-Diamond syndrome (MedGen UID: 1634617).

EIF2AK3

The EIF2AK3 gene is associated with autosomal recessive Wolcott-Rallison syndrome (WRS) (MedGen UID: 140926).

ELANE

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

EPG5

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

ERBIN

The ERBIN gene currently has no well-established disease association; however, there is preliminary evidence supporting correlations with autosomal dominant elevated IgE, eosinophilic esophagitis, joint hypermobility & vascular anomalies (PMID: 28126831), and autosomal dominant autism spectrum disorder (PMID: 27824329, 28295210).

ERCC2

The ERCC2 gene is associated with autosomal recessive photosensitive trichothiodystrophy (TTD) (MedGen UID: 355730) and xeroderma pigmentosum, group D (XPD) (MedGen UID: 75656). Additionally, the ERCC2 gene has preliminary evidence supporting a correlation with a combined phenotype including both xeroderma pigmentosum and trichothiodystrophy (XP-TTD) (PMID: 11709541) as well as xeroderma pigmentosum and Cockayne syndrome (XP-CS) (PMID: 7825573).

ERCC3

The ERCC3 gene is associated with autosomal recessive xeroderma pigmentosum/Cockayne syndrome (MedGen UID: 373493).

ERCC6L2
EXTL3

The EXTL3 gene is associated with autosomal recessive EXTL3 deficiency (MedGen UID: 1381460).

F
FADD

The FADD gene is associated with autosomal recessive FADD deficiency (MedGen UID: 1376364).

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).

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).

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).

FAS

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

FASLG

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 autosomal dominant ALPS (PMID: 8787672, 17605793).

FAT4

The FAT4 gene is associated with autosomal recessive Hennekam lymphangiectasia-lymphedema syndrome (MedGen UID: 863376) and Van Maldergem syndrome (MedGen UID: 816205).

FCHO1

The FCHO1 gene is associated with autosomal recessive combined immunodeficiency due to FCHO1 deficiency (PMID: 30822429).

FERMT1

The FERMT1 gene is associated with autosomal recessive Kindler syndrome (MedGen UID: 96060).

FERMT3

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

FOXI3

The FOXI3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with FOXI3 deficiency (PMID: 31600545).

FOXN1

The FOXN1 gene is associated with autosomal recessive severe combined immunodeficiency due to FOXN1 deficiency (MedGen UID: 355713) and autosomal dominant FOXN1 haploinsufficiency (PMID: 31447097).

FOXP3

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

FPR1

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
G6PC

The G6PC gene is associated with autosomal recessive glycogen storage disease type Ia (GSDIa) (MedGen UID: 433536).

G6PC3

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

G6PD

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

GATA2

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

GFI1

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

GINS1

The GINS1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive immunodeficiency due to GINS1 deficiency (PMID: 28414293).

GTF2E2

The GTF2E2 gene is associated with autosomal recessive trichothiodystrophy (MedGen UID: 934752).

GTF2H5

The GTF2H5 gene is associated with autosomal recessive trichothiodystrophy (TTD) (MedGen UID: 865608).

GUCY2C

The GUCY2C gene is associated with autosomal dominant congenital sodium diarrhea (MedGen UID: 766184). Additionally, the GUCY2C gene has preliminary evidence supporting a correlation with autosomal recessive meconium ileus (MedGen UID: 472618).

H
HAX1

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

HELLS

The HELLS gene is associated with autosomal recessive immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (MedGen UID: 934765).

HMOX1

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

HPS1

The HPS1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 1 (HPS1) (MedGen UID: 419514).

HPS3

The HPS3 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 3 (HPS3) (MedGen UID: 854708).

HPS4

The HPS4 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 483344).

HPS5

The HPS5 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854711).

HPS6

The HPS6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome (MedGen UID: 854714).

HTRA2

The HTRA2 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 934617).

HYOU1

The HYOU1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive HYOU1-related immunodeficiency and hypoglycemia (MedGen UID: 383874).

I
ICOS

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

ICOSLG

The ICOSLG gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (PMID: 30498080).

IFIH1

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

IFNAR1

The IFNAR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with susceptibility to infections due to IFNAR1 deficiency (PMID: 31270247) and Evans syndrome (PMID: 30940614).

IFNAR2

The IFNAR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive IFNAR2 deficiency (MedGen UID: 901044).

IFNGR1

The IFNGR1 gene is associated with autosomal recessive (MedGen UID: 860386) and autosomal dominant (MedGen UID: 863300) Mendelian susceptibility to mycobacterial disease (MSMD) due to interferon-gamma receptor 1 deficiency.

IFNGR2

The IFNGR2 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MSMD) (MedGen UID: 928740) due to interferon-gamma receptor 2 deficiency.

IGLL1

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

IKBKB

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

IL10

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

IL10RA

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

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

IL12B

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

IL12RB1

The IL12RB1 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MSMD) (MedGen UID: 862386).

IL12RB2

The IL12RB2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive IL12RB2 deficiency (PMID: 30578351).

IL17F

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

IL17RA

The IL17RA gene is associated with autosomal recessive chronic mucocutaneous candidiasis (CMC) due to IL17RA deficiency (MedGen UID: 934770).

IL17RC

The IL17RC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic mucocutaneous candidiasis (MedGen UID: 906897).

IL1RN

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

IL21

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

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

IL23R

The IL23R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive IL23R deficiency (PMID: 30578351).

IL2RA

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

IL2RB

The IL2RB gene is associated with autosomal recessive immunodeficiency with lymphoproliferation and autoimmunity due to CD122 deficiency (MedGen UID: 943634).

IL2RG

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

IL36RN

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

IL6R

The IL6R gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with IL6 receptor deficiency (PMID: 31235509).

IL6ST

The IL6ST gene is associated with autosomal dominant hyper IgE syndrome (HIES) (PMID: 32207811) and autosomal recessive Stuve-Wiedemann syndrome (SWS) (PMID: 31914175). Additionally, the IL6ST gene has preliminary evidence supporting a correlation with autosomal recessive hyper IgE syndrome (HIES) (MedGen UID: 1673363).

IL7R

The IL7R gene is associated with autosomal recessive severe combined immunodeficiency due to IL7R-alpha deficiency (MedGen UID: 373235).

IRAK4

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

IRF2BP2

The IRF2BP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency due to IRF2BP2 deficiency (PMID: 27016798).

IRF4

The IRF4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive IRF4 deficiency (PMID: 29408330).

IRF7

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

The IRF8 gene is associated with autosomal dominant susceptibility to mycobacterial disease (MSMD) (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).

IRF9

The IRF9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive IRF9 deficiency (PMID: 30143481).

ISG15

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

ITCH

The ITCH gene is associated with autosomal recessive ITCH deficiency (MedGen UID: 461999).

ITGAM

The ITGAM gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with systemic lupus erythematous (PMID: 24886912).

ITGB2

The ITGB2 gene is associated with autosomal recessive leukocyte adhesion deficiency type 1 (LAD1) (MedGen UID: 98310).

ITK

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

J
JAGN1

The JAGN1 gene is associated with autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (MedGen UID: 863391).

JAK1

The JAK1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant immune dysregulation and hypereosinophilic syndrome (PMID: 28111307), and autosomal recessive Mendelian susceptibility to mycobacterial disease (PMID: 28008925).

JAK3

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

K
KDM6A

The KDM6A gene is associated with X-linked dominant Kabuki syndrome (MedGen UID: 477126).

KMT2A

The KMT2A gene is associated with autosomal dominant Wiedemann-Steiner syndrome (WDSTS) (MedGen UID: 340266). In addition, there is preliminary evidence supporting a correlation with autosomal dominant predisposition to leukemia (PMID: 23457195).

KMT2D

The KMT2D gene is associated with autosomal dominant Kabuki syndrome (MedGen UID: 893727). Additionally, the KMT2D gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart disease (MedGen UID: 57501).

L
LAMTOR2

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

LAT

The LAT gene is associated with autosomal recessive combined immunodeficiency due to LAT deficiency (MedGen UID: 1384124).

LCK

The LCK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency due to LCK deficiency (PMID: 22985903) and autosomal recessive epidermodysplasia verruciformis (PMID: 27087313).

LCT

The LCT gene is associated with autosomal recessive congenital lactase deficiency (MedGen UID: 120617).

LIG1

The LIG1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with ligase I deficiency (MedGen UID: 864456).

LIG4

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

LIPA

The LIPA gene is associated with autosomal recessive lysosomal acid lipase (LAL) deficiency (MedGen UID: 53088).

LPIN2

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

LRBA

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

LRRC8A

The LRRC8A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant agammaglobulinemia due to LRRC8A deficiency (MedGen UID: 462103).

LYN

The LYN gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autoinflammatory disease (PMID: 28750028).

LYST

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

M
MAGT1

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

MALT1

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

MAP3K14

The MAP3K14 gene is associated with autosomal recessive combined immunodeficiency due to NF-κB-inducing kinase (NIK) deficiency (MedGen UID: 1631072, PMID: 25406581, 29230214).

MCM4

The MCM4 gene is associated with autosomal recessive MCM4 deficiency (MedGen UID: 351256).

MEFV

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).

MKL1

The MKL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive MKL1 deficiency (PMID: 26224645, 27479822).

MOGS

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

MPLKIP

The MPLKIP gene is associated with autosomal recessive non-photosensitive trichothiodystrophy (MedGen UID: 368381).

MS4A1

The MS4A1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive CD20 deficiency (PMID: 20038800; MedGen UID: 462090).

MSN

The MSN gene is associated with X-linked moesin deficiency (MedGen UID: 934779).

MTHFD1

The MTHFD1 gene is associated with autosomal recessive methylenetetrahydrofolate dehydrogenase 1 deficiency (PMID: 25633902).

MVK

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

The MYD88 gene is associated with autosomal recessive MyD88 deficiency (MedGen UID: 383023)

MYO5B

The MYO5B gene is associated with autosomal recessive microvillus inclusion disease (MVID) (MedGen UID: 137954) and isolated cholestasis (MedGen UID: 1433019).

MYSM1

The MYSM1 gene is associated with autosomal recessive MYSM1 deficiency (MedGen UID: 922565).

N
NBAS

The NBAS gene is associated with autosomal recessive infantile liver failure (MedGen UID: 815981) and autosomal recessive short stature with optic nerve atrophy and Pelger-Huët anomaly (SOPH) syndrome (MedGen UID: 762020).

NBN

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). In addition, NBN is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

NCF2

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

NCF4

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

NCSTN

The NCSTN gene is associated with autosomal dominant hidradenitis suppurativa (HS) due to NCSTN deficiency (MedGen UID: 1631104).

NEUROG3

The NEUROG3 gene is associated with autosomal recessive congenital malabsorptive diarrhea (MedGen UID: 372151).

NFAT5

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).

NFE2L2

The NFE2L2 gene is associated with autosomal dominant immunodeficiency, developmental delay, and hypohomocysteinemia due to NFE2L2 gain-of-function (MedGen UID: 1616061).

NFKB1

The NFKB1 gene is associated with autosomal dominant common variable immunodeficiency due to NKFB1 deficiency (MedGen UID: 906018).

NFKB2

The NFKB2 gene is associated with autosomal dominant deficient anterior pituitary with variable immune deficiency (DAVID) syndrome (MedGen UID: 816321) and autosomal dominant common variable immunodeficiency (CVID) (PMID: 30941118).

NFKBIA

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

NHEJ1

The NHEJ1 gene is associated with autosomal recessive severe combined immunodeficiency due to Cernunnos/XLF deficiency (MedGen UID: 369590).

NHP2

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

NLRC4

The NLRC4 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (FCAS) (MedGen UID: 863713) and autosomal dominant macrophage activation syndrome (PMID: 25217959).

NLRP1

The NLRP1 gene is associated with autosomal dominant NLRP1 gain of function (GOF) syndrome (MedGen UID: 815206). Additionally, the NLRP1 gene has preliminary evidence supporting a correlation with autosomal recessive NLRP1 deficiency (MedGen UID: 946393).

NLRP12

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

NLRP3

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

NOD2

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

The NOP10 gene is associated with NOP10-related dyskeratosis congenita (DC) spectrum disorders (MedGen UID: 341705).

NSMCE3

The NSMCE3 gene is associated with autosomal recessive NSMCE3 deficiency (MedGen UID: 934620).

O
OAS1
ORAI1

The ORAI1 gene is associated with autosomal dominant tubular aggregate myopathy 2 (TAM2) (MedGen UID: 860163) and autosomal recessive ORAI1 deficiency (MedGen UID: 440578).

OSTM1

The OSTM1 gene is associated with autosomal recessive OSTM1 deficiency associated osteopetrosis (MedGen UID: 409627).

OTULIN

The OTULIN gene is associated with autosomal recessive otulipenia/ORAS (MedGen UID: 934581).

P
PARN

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

PAX1

The PAX1 gene is associated with autosomal recessive otofaciocervical syndrome (MedGen UID: 811517).

PEPD

The PEPD gene is associated with autosomal recessive prolidase deficiency (PD) (MedGen UID: 120647).

PGM3

The PGM3 gene is associated with autosomal recessive PGM3-congenital disorder of glycosylation (CDG) (MedGen UID: 862808).

PIK3CD

The PIK3CD gene is associated with autosomal dominant activated phosphoinositide 3-kinase δ (PI3K-delta) syndrome (MedGen UID: 811535). Additionally, the PIK3CD gene has preliminary evidence supporting a correlation with autosomal recessive phosphoinositide 3-kinase δ deficiency (PMID: 30040974).

PIK3R1

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

PLCG2

The PLCG2 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (MedGen UID: 482544) and autosomal dominant autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) (MedGen UID: 614878).

PMM2

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

PMS2

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

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

POLA1

The POLA1 gene is associated with X-linked pigmentary reticulate disorder (MedGen UID: 336844) and X-linked Van Esch-O’Driscoll syndrome (MedGen UID: 945207).

POLD1

The POLD1 gene is associated with autosomal dominant predisposition to colonic adenomatous polyps and colon cancer (PMID: 24509466) and autosomal dominant MDPL syndrome (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy) (MedGen UID: 811623). There is also preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency syndrome (PMID: 31629014). The data, however, are preliminary and insufficient to make a determination regarding this relationship.

POLE

The POLE gene is associated with an autosomal dominant predisposition to colonic adenomatous polyps and colon cancer (PMID: 23263490, 26133394, 23585368, 24501277, 24788313) and autosomal recessive FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) (MedGen UID: 767490).

POLE2

The POLE2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with combined immunodeficiency (PMID: 26365386). There is also preliminary evidence supporting a correlation with colorectal cancer (PMID: 25529843, 27329137).

POLR3A

The POLR3A gene is associated with autosomal recessive hypomyelinating leukodystrophy 7 (MedGen UID: 390993) and autosomal recessive Wiedemann-Rautenstrauch syndrome (MedGen UID: 140806).

POMP

The POMP gene is associated with autosomal dominant proteasome-associated autoinflammatory syndrome type 2 (PRAAS2) (MedGen UID: 1648482) and autosomal recessive keratosis linearis with ichthyosis congenita and sclerosis keratoderma (KLICK) syndrome (MedGen UID: 356430).

PRF1

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

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

PRKDC

The PRKDC gene is associated with autosomal recessive severe combined immunodeficiency due to DNA PKcs deficiency (MedGen UID: 863270).

PSENEN

The PSENEN gene is associated with autosomal dominant hidradenitis suppurativa (HS) due to PSENEN deficiency (MedGen UID: 462387).

PSMA3

The PSMA3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with proteasome-associated autoinflammatory syndrome-1 (PMID: 26524591).

PSMB4

The PSMB4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome (MedGen UID: 1648456)

PSMB8

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

PSMG2
PSTPIP1

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

PTPRC

The PTPRC gene is associated with autosomal recessive severe combined immunodeficiency due to CD45 deficiency (MedGen UID: 373235).

Q
R
RAB27A

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

RAC2

The RAC2 gene is associated with autosomal dominant neutrophil immunodeficiency syndrome (MedGen UID: 374920), autosomal dominant combined immunodeficiency (PMID: 30654050), and autosomal recessive common variable immunodeficiency (PMID: 25512081).

RAG1

The RAG1 gene is associated with autosomal recessive severe combined immunodeficiency due to RAG1 deficiency (MedGen UID: 321935) including Omenn syndrome (MedGen UID: 398130).

RAG2

The RAG2 gene is associated with autosomal recessive severe combined immunodeficiency due to RAG2 deficiency (MedGen UID: 321935) including Omenn syndrome (MedGen UID: 398130).

RANBP2

The RANBP2 gene is associated with autosomal dominant infection-induced acute necrotizing encephalopathy (MedGen UID: 382634).

RASGRP1

The RASGRP1 gene is associated with autosomal recessive RASGRP1 deficiency (PMID: 11017103, 27776107, 28822832).

RBCK1

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

RELA

The RELA gene is associated with autosomal dominant chronic mucocutaneous ulceration (MedGen UID: 1648375). Additionally, the RELA gene has preliminary evidence supporting a correlation with autosomal dominant autoimmune lymphoproliferative syndrome (PMID: 29305315).

RELB

The RELB gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency due to RELB deficiency (PMID: 26385063).

RFX5

The RFX5 gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class II deficiency (MedGen UID: 444051).

RFXANK

The RFXANK gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class II deficiency (MedGen UID: 444051).

RFXAP

The RFXAP gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class II deficiency (MedGen UID: 444051).

RHOH

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

RIPK1

The RIPK1 gene is associated with autosomal recessive RIPK1 deficiency (MedGen UID: 1648306).

RMRP

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

RNASEH2A

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

RNASEH2B

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

RNASEH2C

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

RNF113A

The RNF113A gene is associated with X-linked trichothiodystrophy (MedGen UID: 899675).

RNF168

The RNF168 gene is associated with autosomal recessive radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties (RIDDLE) syndrome (MedGen UID: 394368).

RNF31

The RNF31 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive autoinflammation, immunodeficiency, amyelopectinosis, and lymphangiectasia (PMID: 26008899).

RNU4ATAC

The RNU4ATAC gene is associated with autosomal recessive Roifman syndrome (MedGen UID: 375801), microcephalic osteodysplastic primordial dwarfism (MedGen UID: 347149), and Lowry-Wood syndrome (PMID: 29265708, 30368667).

RORC

The RORC gene is associated with autosomal recessive RORC deficiency (MedGen UID: 896273).

RPSA

The RPSA gene is associated with autosomal dominant isolated congenital asplenia (ICA) due to RPSA deficiency (MedGen UID: 151935).

RTEL1

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

S
SAMD9

The SAMD9 gene is associated with autosomal dominant myelodysplasia, infection, restriction of growth, adrenal hypoplasia and insufficiency, genital abnormalities, and enteropathy (MIRAGE) syndrome (MedGen UID: 924576). Additionally, the SAMD9 gene has preliminary evidence supporting a correlation with autosomal recessive familial, normophosphatemic tumoral calcinosis (NFTC) (PMID: 18094730, 16960814).

SAMD9L

The SAMD9L gene is associated with autosomal dominant ataxia-pancytopenia (AP) syndrome (MedGen UID: 230896).

SAMHD1

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

SAR1B

The SAR1B gene is associated with autosomal recessive chylomicron retention disease (CMRD) (MedGen UID: 208651).

SCO2

The SCO2 gene is associated with autosomal recessive cardioencephalomyopathy due to mitochondrial complex IV deficiency (MedGen UID: 346817). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive Charcot-Marie-Tooth disease (PMID: 29351582) and fatal infantile hyperthermia (PMID: 23364397).

SEC61A1

The SEC61A1 gene is associated with autosomal dominant tubulointerstitial kidney disease (MedGen UID: 934708) and autosomal dominant plasma cell deficiency (PMID: 28782633).

SEMA3E

The SEMA3E gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with chronic kidney disease, seizures and hypothyroidism (PMID: 30773290).

SERPING1

The SERPING1 gene is associated with autosomal dominant hereditary angioedema type 1 (HAE1) (MedGen UID: 403466).

SH2D1A

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

SH3BP2

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

SH3KBP1

The SH3KBP1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with X-linked recessive antibody deficiency (MedGen UID: 337462).

SI

The SI gene is associated with autosomal recessive sucrase-isomaltase deficiency (MedGen UID: 220924).

SIAE

The SIAE gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with susceptibility to juvenile idiopathic arthritis (PMID: 28900629).

SKIV2L

The SKIV2L gene is associated with autosomal recessive trichohepatoenteric syndrome (MedGen UID: 482919).

SLC26A3

The SLC26A3 gene is associated with autosomal recessive congenital secretory chloride diarrhea (MedGen UID: 78631)

SLC29A3

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

SLC35C1

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

SLC37A4

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

SLC39A7

The SLC39A7 gene is associated with autosomal recessive agammaglobulinemia due to SLC39A7 deficiency (PMID: 30718914).

SLC46A1

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

SLC5A1

The SLC5A1 gene is associated with autosomal recessive glucose-galactose malabsorption (GGM) (MedGen UID: 78647).

SLC7A7

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

SLC9A3

The SLC9A3 gene is associated with autosomal recessive congenital sodium diarrhea (MedGen UID: 1179183).

SLX4

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

SMARCAL1

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

SMARCD2

The SMARCD2 gene is associated with autosomal recessive neutrophil-specific granule deficiency (MedGen UID: 1371952).

SNX10

The SNX10 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 767392).

SP110

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

SPINK5

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

SPINT2

The SPINT2 gene is associated with autosomal recessive congenital sodium diarrhea (MedGen UID: 78632).

SPPL2A

The SPPL2A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive mendelian susceptibility to mycobacterial disease (PMID: 30127434).

SRP54

The SRP54 gene is associated with autosomal dominant Schwachman-Diamond syndrome due to SRP54 deficiency (MedGen UID: 1640046).

SRP72

The SRP72 gene is associated with autosomal dominant familial bone marrow failure (MedGen UID: 814883).

STAT1

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

The STAT2 gene is associated with autosomal recessive STAT2 deficiency (MedGen UID: 904009).

STAT3

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

STAT4

The STAT4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with paracoccidiomycosis (PMID: 29029192).

STAT5B

The STAT5B gene is associated with autosomal recessive STAT5B deficiency (MedGen UID 343379).

STIM1

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

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

STN1

The STN1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive cerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome (MedGen UID: 1636142).

STX11

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

STX3

The STX3 gene is associated with autosomal recessive microvillus inclusion disease (MVID) (PMID: 24726755). Additionally, the STX3 gene has preliminary evidence supporting a correlation with autosomal recessive congenital cataracts and intellectual disability (PMID: 25358429).

STXBP2

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

T
TAOK2

The TAOK2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive primary immunodeficiency (PMID: 28385331). A correlation with autism spectrum disorders has also been reported (PMID: 28191890).

TAP1

The TAP1 gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class I deficiency (MedGen UID: 346868).

TAP2

The TAP2 gene is associated with autosomal recessive hereditary major histocompatibility complex (MHC) class I deficiency (MedGen UID: 346868).

TAPBP

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 (MHC) class I deficiency (PMID: 12149238).

TAZ

The TAZ gene is associated with X-linked recessive Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893). Additionally, there is preliminary evidence supporting an association with X-linked recessive dilated cardiomyopathy (DCM) (MedGen UID: 2880) and left ventricular noncompaction cardiomyopathy (MedGen UID: 349005).

TBK1

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 (MedGen UID: 1646997) and normal-tension glaucoma (PMID: 24699864).

TBX1

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.

TCF3

The TCF3 gene is associated with autosomal dominant agammaglobulinemia due to E47 transcription factor deficiency (MedGen UID: 934753). Additionally, the TCF3 gene has preliminary evidence supporting a correlation with autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (PMID: 28532655).

TCIRG1

The TCIRG1 gene is associated with autosomal recessive osteopetrosis due to TCIRG1 deficiency (MedGen UID: 376708).

TCN2

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

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).

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).

TGFB1

The TGFB1 gene is associated with autosomal dominant Camurati-Engelmann disease (CED) (MedGen UID: 4268) and autosomal recessive inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) (MedGen UID: 1648434). Additionally, the TGFB1 gene has preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (PMID: 27577878) and acute aortic dissection (PMID: 30056620).

TGFBR1

The TGFBR1 gene is associated with autosomal dominant thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766), Loeys-Dietz syndrome 1 (LDS1) (MedGen UID: 1646567), and multiple self-healing squamous epithelioma (MSSE) (MedGen UID: 154270).

TGFBR2

The TGFBR2 gene is associated with autosomal dominant Loeys-Dietz syndrome 2 (LDS2) (MedGen UID: 382398) and thoracic aortic aneurysms and aortic dissections (TAAD) (MedGen UID: 1644766).

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).

TICAM1

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).

TIMM50

The TIMM50 gene is associated with autosomal recessive 3-methylglutaconic aciduria (MedGen UID: 1622927).

TINF2

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

TLR3

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

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

TMC8

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

TMEM173

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

TNFAIP3

The TNFAIP3 gene is associated with autosomal dominant familial Behcet-like autoinflammatory syndrome (MedGen UID: 898541).

TNFRSF11A

The TNFRSF11A gene is associated with autosomal recessive osteopetrosis 7 (MedGen UID: 436770) and a heterogeneous group of related autosomal dominant expansile osteolytic syndromes including familial expansile osteolysis (MedGen UID: 96593), early onset familial Paget disease of bone (MedGen UID: 899166), expansile skeletal hyperphosphatasia (PMID: 11771666), and panostotic expansile bone disease (PMID: 24014458). Additionally, the TNFRSF11A gene has preliminary evidence supporting a correlation with autosomal dominant hereditary recurrent fevers (PMID: 24891336).

TNFRSF13B

The TNFRSF13B gene, also known as TACI, is associated with autosomal recessive common variable immunodeficiency (CVID) due to TACI deficiency (MedGen UID: 461704). Single pathogenic variants may contribute to CVID risk (PMID: 27250108).

TNFRSF13C

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

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

TNFRSF4

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).

TNFRSF6B

The TNFRSF6B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with systemic lupus erythematosus (PMID: 23729807).

TNFRSF9

The TNFRSF9 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with 4-1BB deficiency (PMID: 30872117).

TNFSF11

The TNFSF11 gene is associated with autosomal recessive osteopetrosis (MedGen UID: 342420).

TNFSF12

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

TONSL

The TONSL gene is associated with autosomal recessive sponastrime dysplasia (MedGen UID: 266247).

TOP2B

The TOP2B gene is associated with autosomal dominant TOP2B deficiency (PMID: 31409799). Additionally, the TOP2B gene has preliminary evidence supporting a correlation with developmental delay (PMID: 28191890).

TP63

The TP63 gene is associated with autosomal dominant acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome (MedGen UID: 400232), ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) (MedGen UID: 347666), Hay-Wells syndrome (MedGen UID: 98032), limb-mammary syndrome (MedGen UID: 355051), Rapp-Hodgkin syndrome (MedGen UID: 315656), and split-hand/foot malformation (MedGen UID: 343120), collectively known as TP63-related conditions.

TPP2

The TPP2 gene is associated with autosomal recessive tripeptidyl peptidase II deficiency (PMID: 25414442).

TRAF3

The TRAF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to Evans syndrome (PMID: 30940614).

TRAF3IP2

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) and autosomal recessive atopic dermatitis (PMID: 28640246, 28600779).

TREX1

The TREX1 gene is associated with autosomal recessive (and rarely, 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 gene has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818).

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).

TTC37

The TTC37 gene is associated with autosomal recessive trichohepatoenteric syndrome (THES) 1 (MedGen UID: 347405).

TTC7A

The TTC7A gene is associated with autosomal recessive immunodeficiency with multiple intestinal atresias (MedGen UID: 65090).

TYK2

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

U
UNC13D

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

UNC45A

The UNC45A gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with osteo-oto-hepatoenteric syndrome (PMID: 29429573).

UNC93B1

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

UNG

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). The data, however, are preliminary insufficient to make a determination regarding this relationship.

V
VAV1

The VAV1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (PMID 23058036).

VPS13B

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

VPS45

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

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.

WDR1

The WDR1 gene is associated with autosomal recessive WDR1 deficiency (PMID: 27557945, 27994071). Additionally, the WDR1 gene has preliminary evidence supporting a correlation with autosomal dominant intellectual disability (MedGen UID: 334384; PMID: 28295210).

WIPF1

The WIPF1 gene is associated with autosomal recessive Wiskott-Aldrich syndrome due to WIP deficiency (MedGen UID: 482631).

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

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

Y
Z
ZAP70

The ZAP70 gene is associated with autosomal recessive combined immunodeficiency due to ZAP70 deficiency (MedGen UID: 376544).

ZBTB24

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

ZCCHC8

The ZCCHC8 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and recessive ZCCHC8-related conditions (PMID: 31488579, 21937992).

ZNF341

The ZNF341 gene is associated with autosomal recessive Hyper-IgE syndrome (MedGen UID: 941154).