Description
The panel represents primary immunodeficiency disorders, including:

- Combined immunodeficiency, with or without associated/syndromic features 
   (includes SCID and patients with syndromic features)
- Predominantly antibody deficiencies
- Diseases of immune dysregulation (includes HLH)
- Congenital defects of phagocyte number, function or both (includes neutropenia)
- Defects in intrinsic and innate immunity
- Autoinflammatory disorders
- Complement deficiencies

This panel includes the following sources, the genes from these sources have all been reviewed based on PanelApp guidelines.

1) Previous Genomics England gene panels merged to form this panel:

A- or hypo-gammaglobulinaemia v1.25; Agranulocytosis v1.3; Combined B and T cell defect v1.12; Congenital neutropaenia v1.22; Inherited complement deficiency v0.11 and SCID v1.6. Indicated on this panel by the source listing the panel name the gene was found on.

2) External expert immunodeficiency diagnostic gene lists:

a) GOSH PID v8.0 : Indicated on this panel by the source GOSH PID v8.0.
This is a list of genes from Great Ormond Street Hospital (GOSH) diagnostic PID panel 28th November 2017 (82 unique genes). http://www.labs.gosh.nhs.uk/media/764830/pid_v8.pdf. GOSH PID panel version 8. MOI and Phenotype was inferred by Genomics England curator using OMIM.

b) GRID V2.0 : Indicated on this panel by the source GRID V2.0.
This is a list of genes from Genomics of Rare Immune Disorders (GRID) platform http://grid.cambridgednadiagnosis.org.uk, which is supported by Cambridge Biomedical Research centre/NHS East England NHS GMC and was developed in consultation with clinical immunologists : Chiara Bacchelli, Shahnaz Bibi, Siobhan Burns, Kimberly Gilmour, Sophie Hambleton, Taco Kuijpers, Jesmeen Maimaris, Ken Smith, Andrew Thrasher, James Thaventhiran.  Also Ilenia Simeoni, Karyn Megy, Rutendo Mapeta at NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust. The GRID platform screens in parallel 279 genes known to be causative of Primary Immune disorders, and includes IUIS genes International Union of Immunological Societies (IUIS) publication (2015) PMID: https://www.ncbi.nlm.nih.gov/pubmed/?term=26445875. Version used in this panel is GRID V2.0, sent 14th March 2018. (assembly used GRCh37)

c) Victorian Clinical Genetics Services (Australian Genomics Health Alliance)  : Indicated on this panel by the source Victorian Clinical Genetics Services.  This has been generated from the list of diagnostic genes for Immunological disorders (June 2018) from Victorian Clinical Genetics Services, Australia, provided by Zornitza Stark. Inclusion criteria for VCGS panels are that the genes have been reported as causative in at least two cases from unrelated families.

3) Reference lists:

a) ESID Registry:  Indicated on this panel by the source ESID Registry 20171117.
European Society for immunodeficiencies (ESID) https://esid.org produces a Registry https://esid.org/Working-Parties/Registry/New-ESID-Registry/List-of-diseases-and-genes and gives an overview of current phenotypes and genes associated to immunodeficiencies and lists, where known, genes for each disease. It also includes recent discoveries of new phenotypes and genes. This is a reference to the ESID registry and does not confer pertinence. The version of the registry used in this panel is from 17th November 2017, ESID_Disease_tree_2017_11_17.

b) IUIS Classification: Indicated on this panel by the source IUIS Classification February 2018.  International Union of Immunological Societies (IUIS) http://www.iuisonline.org is an umbrella organization for many of the regional and national societies of immunology throughout the world and maintains a list of gene defects routinely used as a reference to categorize and predict the pathogenicity of variants identified in patients by NGS. The classification gives an overview and includes disease, gene, T cell level, B cell level, inheritance and associated immunodeficiency features, which are included in the panel Phenotypes.  This is a reference to the IUIS registry and does not confer pertinence. The version of the classification used in this panel is from the updated IUIS classification table (February, 2018) downloaded 20180614.

18 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Tracy Briggs (Manchester Genomic Medicine Centre)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Peter Arkwright (Royal Manchester Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Kimberly Gilmour (Great Ormond Street Hopsital)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Sophie Hambleton (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • William Rae (University Hospital Southampton NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Christopher Duncan (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • emma baple (South West GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Owen Siggs (Flinders University)

    Group: Other
    Workplace: Research lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

390 Entities

388 reviewed, 249 green

List Entity Reviews Mode of inheritance Details
390 Entitiess
Green Green List (high evidence)
ACP5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies
  • Spondyloenchondrodysplasia with immune dysregulation, 607944
  • Type 1 interferonopathies
  • Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections
  • Autoinflammatory Disorders
Green Green List (high evidence)
ADA
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • SCID v1.6
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted)
  • Severe combined immunodeficiency due to ADA deficiency, 102700
  • T-B- SCID
  • T-B+ SCID
  • Adenosine deaminase (ADA) deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • gene-therapy-trial
Green Green List (high evidence)
ADA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Polyarteritis nodosa
  • Polyarteritis nodosa, childhood-onset, 615688
  • ADA2 deficiency
  • Deficiency of ADA2 (DADA2)
  • Other autoinflammatory diseases with known genetic defect
  • Fever with early onset stroke
  • combined immunodeficiency
  • Evans' syndrome
  • Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
  • Autoinflammatory Disorders
Green Green List (high evidence)
ADAR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010
  • AGS6
  • Type 1 interferonopathies
  • Classical AGS, BSN, SP
  • Autoinflammatory Disorders
Green Green List (high evidence)
AICDA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Immunodeficiency with hyper-IgM, type 2
  • Hyper IgM syndrome with lymphoid hyperplasia
  • Immunodeficiency with hyper-IgM, type 2, 605258
  • Primary Immune Deficiencies
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Bacterial infections, enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
AIRE
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300
  • Chronic mucocutaneous candidiasis (CMC)
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
  • Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome
  • Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome
  • Multiple endocrine deficiency Addison disease candidiasis syndrome
  • Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
AK2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • SCID v1.6
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Reticular dysgenesis with sensorineural deafness
  • Reticular dysgenesis, 267500
  • Reticular dysgenesis, AK2 deficiency
  • Reticular Dysgenesis AK2 (SCID)
  • Granulocytopenia and deafness
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
AP3B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 2
  • HPS2
  • Hermansky-Pudlak syndrome, 608233
  • Immunodeficient HPS
  • Hermansky-Pudlak syndrome with neutropenia
  • Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
ARPC1B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Thrombocytopenia & Immune Deficiency
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718
  • inflammatory predisposition
  • Immunodeficiency with thrombocytopenia
  • Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
ATM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Ataxia-telangiectasia, 208900
  • Ataxia telangiectasia (ATM)
  • immunodeficiency
  • Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
B2M
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 43,241600
  • Immunodeficiency by defective expression of HLA class 1
  • Sinopulmonary infections, cutaneous granulomas. Absent _2m associated proteins MHC-I, CD1a, CD1b, CD1c
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
BLM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Bloom syndrome, 210900
  • Immunodeficiency
  • Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
BLNK
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia 4, 613502
  • agammaglobulinaemia with absent B cells
  • Agammaglobulinemia 4
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
BTK
7 reviews
6 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia and isolated hormone deficiency
  • Agammaglobulinemia, X-linked
  • Agammaglobulinemia, X-linked 1, 300755
  • Agammaglobulinemia and isolated hormone deficiency, 307200
  • Agammaglobulinemia, X-linked 1 (XLA)
  • Agammaglobulinemia
  • agammaglobulinaemia
  • CVID
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
C1QA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • C1q deficiency, 613652
  • Complement component 1 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE, infections with encapsulated organisms
  • Complement Deficiencies
Green Green List (high evidence)
C1QB
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Inherited complement deficiency v0.11
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency due to an early component of complement deficiency, 613652
  • C1q deficiency
  • Complement component 1 deficiency
  • SLE
  • lupus-like disease
  • susceptibility to invasive bacterial infection
  • SLE, infections with encapsulated organisms
  • Complement Deficiencies
Green Green List (high evidence)
C1QC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • C1q deficiency, 613652
  • Complement component 1 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE, infections with encapsulated organisms
  • Complement Deficiencies
Green Green List (high evidence)
C1R
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • C1r/C1s deficiency, combined, Lupus
  • Complement component 1 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE
  • pyogenic infections
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
Tags
  • early-onset
Green Green List (high evidence)
C1S
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • C1s deficiency, 613783
  • C1s deficiency, Lupus
  • Complement component 1 deficiency
  • SLE
  • pyogenic infections
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
Green Green List (high evidence)
C2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • Inherited complement deficiency v0.11
Phenotypes
  • Complement Component C2 Deficiency
  • C2 deficiency, 217000
  • Immunodeficiency due to C1, C4, or C2 component complement deficiency
  • Lupus
  • SLE, infections with encapsulated organisms, atherosclerosis
  • Complement Deficiencies
Green Green List (high evidence)
C4A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • C4a deficiency, 614380
  • Complement component 4 deficiency
  • Immunodeficiency due to a classical component pathway complement deficiency
  • SLE predisposition
  • infections with encapsulated organisms
  • SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
  • Complement Deficiencies
Green Green List (high evidence)
C4B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • C4B deficiency, 614379
  • SLE predisposition
  • SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
  • Complement Deficiencies
Green Green List (high evidence)
C5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • C5 deficiency, 609536
  • Complement component 5 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
C6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • C6 deficiency, 612446
  • Complement component 6 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
C7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • C7 deficiency, 610102
  • Complement component 7 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
C8A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • C8 deficiency, type I, 613790
  • Complement component 8 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
C8B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • C8 deficiency, type II, 613789
  • Complement component 8 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Disseminated neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
C9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • C9 deficiency, 613825
  • Complement component 9 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Mild susceptibility to disseminated neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
CARD9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Candidiasis, familial, 2
  • 212050
  • CARD9 deficiency
  • Predisposition to invasive fungal disease due to CARD9 deficiency
  • Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
CARMIL2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Combined immunodeficiency
  • warts, molluscum contagiosum, and T‐cell dysfunction
  • EBV+ disseminated smooth muscle tumours
  • Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
CASP10
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GOSH PID v.8.0
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type II, 603909
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Adenopathies, splenomegaly, autoimmunity
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
CASP8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
  • GRID V2.0
Phenotypes
  • Caspase-8 deficiency state
  • CEDS
  • Immunodeficiency due to CASP8 deficiency
  • Caspase 8 deficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
  • Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
CCBE1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
CD19
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunodeficiency, common variable, 3 613493
  • hypogammaglobulinemia
  • Immunodeficiency, common variable, 3
  • Common variable immunodeficiency disorders (CVID)
  • Isolated IgG subclass deficiency
  • Recurrent infections, may have glomerulonephritis
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
CD27
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
Phenotypes
  • Lymphoproliferative syndrome 2
  • Combined immunodeficiency with EBV-associated lymphoproliferation
  • Combined immunodeficiency
  • CD27 deficiency
  • Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
CD3D
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • SCID v1.6
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency 19
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
  • T-B+ SCID
  • CD3d deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Severe combined immunodeficiency (SCID)
  • Nl NK, no g/d T cells
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CD3E
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • SCID v1.6
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency 18, SCID variant
  • Severe Combined Immune Deficiency
  • Immunodeficiency due to defect in CD3-epsilon
  • T-B+ SCID
  • CD3e deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Severe combined immunodeficiency (SCID)
  • Nl NK, no g/d T cells
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CD3G
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 17, CD3 gamma deficient 615607
  • CD3z deficiency
  • Combined immunodeficiency
  • N/A
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CD40
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3
  • HIGM3
  • CD40 deficiency
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Hyper-IgM syndrome due to CD40 deficiency
  • non-X-linked hyper IgM syndrome
  • Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CD40LG
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, X-linked, with hyper-IgM
  • CD40 ligand deficiency
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Hyper-IGM immunodeficiency, X-linked
  • XHIM
  • Hyper-IGM syndrome
  • HIGM
  • IHIS
  • Immunodeficiency 3
  • IMD3
  • Hyper-IgM syndrome due to CD40 ligand deficiency
  • Hyper-IgM syndrome due to CD40L deficiency
  • Hyper-IgM syndrome type 1
  • HIGM1
  • Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CD46
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
  • Membrane Cofactor Protein (CD46) deficiency
  • atypical HUS
  • Atypical hemolytic-uremic syndrome, infections, preeclampsia
  • Complement Deficiencies
Green Green List (high evidence)
CD55
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Decay-accelerating factor for complement deficiency (DAF CD55)
  • protein-losing enteropathy
  • hypogammaglobulinaemia
  • angiopathic thrombosis
  • primary intestinal lymphangiectasia
  • Protein losing enteropathy, thrombosis
  • Complement Deficiencies
Green Green List (high evidence)
CD59
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
  • CD59 antigen P18-20 deficiency (CD59)
  • Membrane Attack Complex Inhibitor (CD59) deficiency
  • Primary CD59 deficiency
  • paroxysmal nocturnal haemoglobinuria
  • chronic hemolysis
  • childhood relapsing immune-mediated polyneuropathy
  • Hemolytic anemia, polyneuropathy
  • Complement Deficiencies
Green Green List (high evidence)
CD70
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiency
  • CD70-deficiency
  • EBV-related malignancy
  • EBV susceptibility, Hodgkin lymphoma
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
CD79A
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia 3, 613501
  • Agammaglobulinemia 3
  • Agammaglobulinemia
  • CD79A deficiency
  • Agammaglobulinemia with autosomal recessive inheritance (ARA)
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
CD79B
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Agammaglobulinemia 6, 612692
  • Agammaglobulinemia 6
  • Agammaglobulinemia
  • CD79B deficiency, Agammaglobulinemia with autosomal recessive inheritance (ARA)
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
CDCA7
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome
  • ICF
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
  • ICF3
  • immunodeficiency, centromeric instability, facial anomalies syndrome type 3
  • recurrent respiratory infections
  • hypogammaglobulinaemia
  • enteropathy
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • watchlist
Green Green List (high evidence)
CFD
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Inherited complement deficiency v0.11
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Complement factor D deficiency, 613912
  • Complement factor D deficiency
  • Factor D deficiency
  • Recurrent Neisseria infections due to factor D deficiency
  • Neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
CFH
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Inherited complement deficiency v0.11
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Complement factor H deficiency, 609814
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease
  • Complement Deficiencies
Green Green List (high evidence)
CFI
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Inherited complement deficiency v0.11
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Complement factor I deficiency, 610984
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  • {Macular degeneration, age-related, 13, susceptibility to}, 615439
  • Complement factor I deficiency
  • C3b inactivator deficiency
  • Factor I deficiency
  • Immunodeficiency with factor I anomaly
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia
  • Complement Deficiencies
Green Green List (high evidence)
CFP
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Properdin deficiency
  • Properdin P factor complement deficiency (PFC)
  • Neisserial infections
  • Complement Deficiencies
Green Green List (high evidence)
CHD7
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Charge syndrome
  • CHARGE syndrome, 214800
  • Immunodeficiency
  • COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES
  • Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
CIITA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group A
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • HLA class II deficiency
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CLPB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VII
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
  • 3-methylglutaconic aciduria, type 7
  • Recurrent or severe infection
  • Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
COPA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Autoimmune inflammatoy arthritis and interstial lung disease, 616414
  • Autoimmune interstitial lung disease-arthritis syndrome
  • COPA syndrome
  • Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production
  • Autoinflammatory Disorders
Tags
  • missense
Green Green List (high evidence)
CORO1A
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Immunodeficiency 8
  • Combined immunodeficiency
  • hypogammaglobulinaemia, combined immunodeficiency
  • Coronin-1A deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Severe combined immunodeficiency (SCID)
  • Omenn syndrome
  • Detectable thymus, EBV
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CSF2RA
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary 4, 300770
  • Congenital pulmonary alveolar proteinosis
  • hypersensitivity
  • Pulmonary alveolar proteinosis
  • Alveolar proteinosis
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
CSF3R
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Congenital neutropaenia v1.22
  • Expert Review Green
Phenotypes
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
  • Neutropenia, severe congenital 7
  • Congenital neutropenia
  • N/A
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
CTLA4
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • CVID
  • hypogammaglobulinaemia
  • lymphadenopathy
  • T cell lymphopenia
  • enteropathy
  • interstitual lung disease
  • autoimmunity
  • Autoimmune lymphoproliferative syndrome, type V 616100
  • Autoimmune lymphoproliferative syndrome, type V
  • Combined immunodeficiency
  • Early-onset multi-organ autoimmune disease
  • Immune dysregulation
  • a broad range of autoimmune phenomena have been described along with polyclonal lymphocytic infiltrates. Susceptibility to infection and hypogammaglobulinaemia are not usually present in isolation
  • Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
CTPS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 24, 615897
  • Severe combined immunodeficiency due to CTPS1 deficiency
  • Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH )
  • Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma
  • Diseases of Immune Dysregulation
Tags
  • founder-effect
Green Green List (high evidence)
CXCR4
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Congenital neutropaenia v1.22
Phenotypes
  • WHIM syndrome, 193670
  • Myelokathexis, isolated
  • WHIM syndrome
  • Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
  • Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
CYBA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
  • Chronic granulomatous disease (CGD)
  • Infections, autoinflammatory phenotype
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
DCLRE1B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
DCLRE1C
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, Athabascan type
  • Severe combined immunodeficiency, Athabascan type, 602450
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
  • DCLRE1C (Artemis) deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl NK, radiation sensitive
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
DNMT3B
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
  • Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
DOCK2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Dock 2 deficiency, Immunodeficiency 40
  • Immunodeficiency 40, 616433
  • Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
DOCK8
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive
  • Hyper-IgE recurrent infection syndrome
  • impaired T cell function, Atopy, cutaneous viral infections
  • Combined immunodeficiency
  • Hyper IgE syndrome (HIES)
  • Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
ELANE
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Congenital neutropaenia v1.22
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Neutropenia, cyclic, 162800
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
  • Neutropenia, severe congenital 1
  • Congenital neutropenia
  • Cyclic neutropenia
  • Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
EPG5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
  • Vici syndrome
  • syndromic phenotype (immunodeficiency variable)
  • Vici syndrome due to EPG5 deficiency
  • Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
EXTL3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425
  • EXTL3 deficiency
  • Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
FADD
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
  • ALPS-like disease
  • functional hyposplenism
  • invasive pneumococcal disease
  • para-infectious encephalopathy and hepatopathy
  • cardiovascular malformations
  • Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
FAS
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Autoimmune lymphoproliferative syndrome type IA, 601859
  • Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS)
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL and IL-10, vitamin B12
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
FASLG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IB, 601859
  • Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG)
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
FERMT3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukocyte adhesion deficiency, type III, 612840
  • LAD
  • LAD type 1 plus bleeding tendency
  • Congenital defects of phagocyte number or function
Tags
  • early-onset
Green Green List (high evidence)
FOXN1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • SCID v1.6
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • T-B+ SCID
  • T-B+ SCID, congenital alopecia, nail dystrophy, 601705
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • Nude severe combined immunodeficiency
  • Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • founder-effect
Green Green List (high evidence)
FOXP3
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
  • IPEX
  • FOXP3 deficiency (IPEX)
  • Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome
  • Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
G6PC3
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
  • Dursun syndrome, 612541
  • Severe Congenital Neutropenia
  • Neutropenia, severe congenital 4
  • Congenital neutropenia
  • Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
G6PD
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD)
  • haemolytic anaemia
  • chronic granulomatous disease-like susceptibility to infection
  • Infections
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
GATA2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency 21,614172
  • Monocytopenia and mycobacterial infection (MonoMAC)
  • Congenital neutropenia
  • Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
  • Monocytopenia with susceptibility to infections
  • Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
GFI1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Congenital neutropaenia v1.22
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Neutropenia, nonimmune chronic idiopathic, of adults, 607847
  • Severe congenital 2, autosomal dominant, 613107
  • Neutropenia, severe congenital 2
  • Congenital neutropenia
  • Severe congenital neutropenia
  • Chronic non-immune neutropenia of adults
  • B/T lymphopenia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
GINS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • GINS1 deficiency
  • intrauterine growth retardation
  • chronic neutropenia
  • NK cell deficiency
  • Immunodeficiency 55, 617827
  • Neutropenia, IUGR, NK cells very low
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
HAX1
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Agranulocytosis v1.3
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
  • Severe congenital neutropenia
  • Neutropenia, severe congenital 3
  • Congenital neutropenia
  • Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
HELLS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Literature
  • Expert Review Green
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome
  • ICF
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911
  • ICF4
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • early-onset
Green Green List (high evidence)
HTRA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, 617248
  • early onset neurological syndrome
  • neutropenia
Green Green List (high evidence)
ICOS
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
Phenotypes
  • Immunodeficiency, common variable, 1
  • Immunodeficiency, common variable, 1, 607594
  • Common variable immunodeficiency disorders (CVID)
  • Isolated IgG subclass deficiency
  • hypogammaglobulinaemia
  • gammaglobulinaemia
  • combined immunodeficiency
  • Recurrent infections, autoimmunity, gastroenteritis, granulomas
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • deletions
Green Green List (high evidence)
IFNGR1
2 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 27A, (AR) 209950
  • Immunodeficiency 27B, (AD) 615978
  • Mycobacteriosis
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria and Salmonella
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IFNGR2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Immunodeficiency 28, Mycobacteriosis, 614889
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria and Salmonella
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IGHM
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Agammaglobulinemia 1, 601495
  • Agammaglobulinemia 1
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
IGLL1
5 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Agammaglobulinemia 2, 613500
  • Agammaglobulinemia 2
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
IKBKB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency 15, 615592
  • Combined immunodeficiency
  • Recurrent bacterial, viral, fungal infections, opportunistic infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
IKBKG
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • GRID V2.0
  • Expert Review Green
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 33, 300636
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • Immunodeficiency, isolated, 300584
  • Invasive pneumococcal disease, recurrent isolated, 2,300640
  • Defects of TLR/NFkappa-B signalling
  • Anhidrotic ectodermal dysplasia (in some), various infections (bacteria, mycobacteria, viruses and fungi), colitis, conical teeth, variable defects of skin, hair and teeth, monocyte dysfunction
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
IKZF1
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency, common variable, 13, 616873
  • Immunodeficiency, common variable 13
  • IKAROS deficiency
  • Recurrent sinopulmonary infections
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
IL10
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • GOSH PID v.8.0
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Early-onset inflammatory bowel disease
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • Inflammatory bowel disease (IBD) Folliculitis, recurrent respiratory diseases, arthritis,
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
IL10RA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • GOSH PID v.8.0
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Green Green List (high evidence)
IL10RB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • GOSH PID v.8.0
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Inflammatory bowel disease 25, early onset, autosomal recessive,612567
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Green Green List (high evidence)
IL12B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Immunodeficiency 29, mycobacteriosis, 614890
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Susceptibility to mycobacteria and Salmonella
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IL12RB1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 30, 614891
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria and Salmonella
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IL17RA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Candidiasis, familial, 5
  • Chronic mucocutaneous candidiasis (CMC)
  • Immunodeficiency 51, 613953
  • Defects in Intrinsic and Innate Immunity
  • CMC, folliculitis
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IL17RC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Candidiasis, familial, 9 616445
  • Chronic Mucocutaneous Candidiasis
  • CMC
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IL1RN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Interleukin 1 receptor antagonist deficiency 612852
  • sterile multifocal osteomyelitis, periostitis, and pustulosis
  • Other autoinflammatory diseases with known genetic defect
  • DIRA
  • Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis.
  • Autoinflammatory Disorders
Green Green List (high evidence)
IL21R
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency 56, 615207
  • Immunodeficiency, primary, autosomal recessive, IL21R-related
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • IL-21R deficiency
  • Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
IL2RA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Interleukin-2 receptor, alpha chain, deficiency of
  • Combined immunodeficiency
  • Omenn syndrome
  • Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype)
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367
  • Lymphoproliferation, autoimmunity, impaired T cell proliferation
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
IL2RG
7 reviews
6 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • GOSH PID v.8.0
  • SCID v1.6
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Combined immunodeficiency, X-linked, moderate
  • Severe combined immunodeficiency, X-linked
  • Severe combined immunodeficiency, X-linked, 300400
  • Severe Combined Immune Deficiency
  • T-B+ SCID
  • SCID
  • SCID (x-linked)
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Low NK
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • gene-therapy-trial
Green Green List (high evidence)
IL36RN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Psoriasis 14, generalized pustular 614204
  • Other autoinflammatory diseases with known genetic defect
  • Pustular psoriasis
  • Autoinflammatory Disorders
Green Green List (high evidence)
IL7R
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
  • SCID v1.6
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
  • T-B+ SCID
  • IL7Ra deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl NK
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
INO80
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • INO80 deficiency, HIGM
  • severe bacterial infections
  • Severe bacterial infections
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
IRAK4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • IRAK4 deficiency, 610799
  • Invasive pneumococcal disease, recurrent isolated, 1, 6107
  • Defects of TLR/NFkappa-B signalling
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Bacterial infections (pyogens)
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
IRF8
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
  • Susceptibility to mycobacteria and multiple other infectious agents
Green Green List (high evidence)
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 188400
  • immune deficiency
  • renal anomalies
  • 22q11.2 deletion syndrome
  • 192430
  • facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
  • cleft palate, polydactyly
  • polyhydramnios
  • Velocardiofacial syndrome
  • diaphragmatic hernia
  • DiGeorge syndrome
  • congenital heart disease
  • Learning difficulties
Green Green List (high evidence)
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • 188400
  • neonatal hypocalcemia, which may present as tetany or seizures, due to hypoplasia of the parathyroid glands, and susceptibility to infection due to a deficit of T cells
  • micrognathia
  • clefting
  • Hearing deficits
  • Velocardiofacial syndrome
  • cardiac malformations
  • DiGeorge syndrome
Green Green List (high evidence)
ISG15
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 38, 616126
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • idiopathic basal ganglia calcification
  • Susceptibility to mycobacteria, brain calcifications
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
ITCH
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Autoimmune disease, multisystem, with facial dysmorphism, 613385
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
  • Syndromic multisystem autoimmune disease due to Itch deficiency
  • Early-onset chronic lung disease (interstitial pneumonitis), autoimmunity (thyroiditis, type I diabetes, chronic diarrhea/enteropathy, and hepatitis), failure to thrive, developmental delay, dysmorphic facial features
  • Diseases of Immune Dysregulation
Tags
  • founder-effect
Green Green List (high evidence)
ITGB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Leukocyte adhesion deficiency, 116920
  • LAD
  • Leukocyte adhesion deficiency type I
  • Delayed cord separation, skin ulcers, periodontitis, leukocytosis
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
ITK
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Lymphoproliferative syndrome 1
  • Combined immunodeficiency
  • ITK deficiency (HLH phenotype)
  • EBV viraemia, HLH
  • EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
JAGN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Neutropenia, severe congenital
  • Congenital neutropenia
  • Neutropenia, severe congenital, 6, autosomal recessive,616022
  • severe congenital neutropenia
  • Myeloid maturation arrest, osteopenia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
JAK3
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type
  • Severe Combined Immune Deficiency
  • T-B+ SCID
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
  • JAK3 deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Low NK
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
LAMTOR2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
  • Congenital neutropenia
  • Primary immunodeficiency syndrome due to p14 deficiency
  • Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
LCK
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Immunodeficiency 22, 615758
  • LCK deficiency
  • Combined immunodeficiency
  • Severe combined immunodeficiency due to LCK deficiency
  • Recurrent infections, immune dysregulation, autoimmunity
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
LIG4
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • GRID V2.0
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • SCID v1.6
Phenotypes
  • LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
  • Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
  • Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
  • T-B- SCID
  • T-B+ SCID
  • LIG4 syndrome
  • Combined immunodeficiency
  • Severe combined immunodeficiency (SCID)
  • DNA ligase IV deficiency
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
LPIN2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Majeed syndrome 609628
  • Other autoinflammatory diseases with known genetic defect
  • Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders
  • Autoinflammatory Disorders
Green Green List (high evidence)
LRBA
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity, 614700
  • Unclassified antibody deficiency
  • Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
LYST
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Chediak-Higashi syndrome 214500
  • Chediak Higashi syndrome
  • Partial albinism, recurrent infections, fever, HSM, HLH, giant lysosomes, neutropenia, cytopenias, bleeding tendency, progressive neurological dysfunction
  • Diseases of Immune Dysregulation
Tags
  • age-specific-variation
Green Green List (high evidence)
MAGT1
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • GRID V2.0
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
  • Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
  • XMEN syndrome
  • Immunodeficiency, X-linked, with magnesium defect
  • Epstein-Barr virus infection and neoplasia (XMEN)
  • Combined immunodeficiency
  • EBV infection, lymphoma, viral infections, respiratory and GI infections
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
MALT1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Immunodeficiency 12 615468
  • Combined immunodeficiency
  • Bacterial, fungal and viral infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
MAP3K14
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Recessive Atypical Combined Immunodeficiency
  • Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity
  • Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
MCM4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Immunodeficiency 54, 609981
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect
  • Predisposition to several viral infection
  • MCM4 deficiency
  • NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • founder-effect
Green Green List (high evidence)
MEFV
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100
  • Familial mediterranean fever defect
  • Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease.
  • Autoinflammatory Disorders
Green Green List (high evidence)
MOGS
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Congenital disorder of glycosylation, type IIb 606056
  • Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb)
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
MSN
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 50, 300988
  • Recurrent infections with bacteria, varicella, neutropenia
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
MTHFD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
Phenotypes
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
  • Defects of Vitamin B12 and Folate metabolism
  • Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
MVK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Hyper-IgD syndrome 260920
  • Mevalonic aciduria 610377
  • Hyper IgD syndrome (MVK)
  • Periodic fever and leukocytosis with high IgD levels
  • Autoinflammatory Disorders
Green Green List (high evidence)
MYD88
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
  • Defects of TLR/NFkappa-B signalling
  • recurrent pyogenic bacterial infection
  • Bacterial infections (pyogens)
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
MYSM1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • MYSM1 deficiency
  • Bone marrow failure
  • neurodevelopmental delay
  • mid-face hypoplasia
  • immunodeficiency
  • Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
NBN
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Nijmegen breakage syndrome 251260
  • Nijmegen breakage syndrome (NBS1)
  • Aplastic anemia 609135
  • Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
NCF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-1 233700
  • Chronic granulomatous disease (CGD)
  • Infections, autoinflammatory phenotype
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
NCF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-2 233710
  • Chronic granulomatous disease (CGD)
  • Infections, autoinflammatory phenotype
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
NFKB1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency, common variable, 12 616576
  • Common variable immunodeficiency disorders (CVID)
  • Unclassified antibody deficiency
  • Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
NFKB2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency, common variable, 10 615577
  • Hypogammaglobuliaemia
  • immune dysregulation
  • central adrenal insufficiency
  • Common variable immunodeficiency disorders (CVID)
  • Unclassified antibody deficiency
  • Recurrent sinopulmonary infections, alopecia and endorinopathies
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
NFKBIA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
  • Defects of TLR/NFkappa-B signalling
  • Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
NHEJ1
8 reviews
7 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Combined B and T cell defect v1.12
  • SCID v1.6
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
  • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
  • T-B- SCID
  • T-B+ SCID
  • Combined immunodeficiency
  • Cernunnos/XLF deficiency
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
NLRC4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Familial cold autoinflammatory syndrome 4 616115
  • Autoinflammation with infantile enterocolitis 616050
  • Severe enterocolitis and macrophage activation syndrome
  • Autoinflammatory Disorders
Green Green List (high evidence)
NLRP12
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial cold autoinflammatory syndrome 2, 611762
  • preterm premature rupture of membranes (PPROM)
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.
  • Autoinflammatory Disorders
Green Green List (high evidence)
NLRP3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • CINCA syndrome 607115
  • Muckle-Wells syndrome 191900
  • Familial cold autoinflammatory syndrome 1 120100
  • Deafness, autosomal dominant 34, with or without inflammation 617772
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure
  • Autoinflammatory Disorders
  • Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation
  • Urticaria, SNHL, amyloidosis
Green Green List (high evidence)
NOD2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Blau syndrome 186580
  • Caspase recruitment domain-containing protein 15 deficiency (CARD15)
  • Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis
  • Autoinflammatory Disorders
Green Green List (high evidence)
ORAI1
6 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • ESID Registry 20171117
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Immunodeficiency 9 612782
  • T-B+ SCID
  • immunodeficiency, ectodermal dysplasia and myopathy
  • Combined immunodeficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
OTULIN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, 617099
  • Fever, diarrhea , dermatitis
  • Autoinflammatory Disorders
Green Green List (high evidence)
PARN
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6 616353
  • Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
PGM3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 23 615816
  • Combined immunodeficiency
  • Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
PIK3CD
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • A- or hypo-gammaglobulinaemia v1.25
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 14,615513
  • Combined immunodeficiency
  • Unclassified antibody deficiency
  • Activated PI3K-delta syndrome (APDS)
  • sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
  • Severe bacterial infections
  • decreased or absent pro-B cells, EBV
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
PIK3R1
7 reviews
6 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Immunodeficiency 36
  • Agammaglobulinemia 7, autosomal recessive, 615214
  • SHORT syndrome, 269880
  • Immunodeficiency 36, 616005
  • Agammaglobulinemia 7
  • Immunodeficiency 36
  • Combined immunodeficiency
  • Activated PI3K-delta syndrome (APDS)
  • Agammaglobulinemia
  • immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
  • Severe bacterial infections, decreased or absent pro-B cells
  • Predominantly Antibody Deficiencies
  • Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
Green Green List (high evidence)
PLCG2
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878
  • Familial cold autoinflammatory syndrome 3 614468
  • Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
  • Familial cold autoinflammatory syndrome 3
  • Other autoinflammatory diseases with known genetic defect
  • Cold urticaria hypogammaglobulinemia, autoinflammation
  • Autoinflammatory Disorders
Green Green List (high evidence)
PNP
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • SCID v1.6
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency
  • T-B+ SCID
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Autoimmune haemolytic anemia, neurological impairment
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
PRF1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • ESID Registry 20171117
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 2, 603553
  • FHL2
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH2
  • HLH2
  • Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Green Green List (high evidence)
PRKCD
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type III 615559
  • Immunodeficiency, common variable, 9
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Unclassified antibody deficiency
  • Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
PRKDC
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • SCID v1.6
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities
  • Immunodeficiency, with or without neurologic abnormalities
  • DNA Pkcs deficiency
  • Combined immunodeficiency
  • Severe combined immunodeficiency (SCID)
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
PSMB8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040
  • Other autoinflammatory diseases with known genetic defect
  • CANDLE syndrome
  • chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE)
  • Contractures, panniculitis, ICC, fevers
  • Autoinflammatory Disorders
Green Green List (high evidence)
PSTPIP1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416
  • Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1)
  • PAPA syndrome
  • Hyperzincaemia hypercalprotectinaemia
  • Destructive arthritis, inflammatory skin rash, myositis
  • Autoinflammatory Disorders
Green Green List (high evidence)
PTPRC
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • SCID v1.6
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
  • GRID V2.0
Phenotypes
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
  • {Hepatitic C virus, susceptibility to}, 609532
  • T-B+ SCID
  • CD45 deficiency
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl g/d T cells
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
RAB27A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Griscelli syndrome, type 2 607624
  • Partial albinism, fever, HSM, HLH, cytopenias
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
RAG1
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • SCID v1.6
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Severe combined immunodeficiency, B cell-negative
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, B cell-negative, 601457
  • T-B- SCID
  • T-B+ SCID
  • RAG1 deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl NK
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
RAG2
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • SCID v1.6
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • Combined B and T cell defect v1.12
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Severe combined immunodeficiency, B cell-negative
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, B cell-negative, 601457
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
  • RAG2 deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Nl NK
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
RFX5
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group C
  • Bare lymphocyte syndrome, type II, complementation group E
  • HLA class II deficiency
  • Combined immunodeficiency
  • Bare lymphocyte syndrome (MHC class II deficiency)
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
RFXANK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • Combined B and T cell defect v1.12
  • Victorian Clinical Genetics Services
Phenotypes
  • MHC class II deficiency, complementation group B
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • HLA class II deficiency
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
RFXAP
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • Combined B and T cell defect v1.12
Phenotypes
  • Bare lymphocyte syndrome, type II, complementation group D
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • HLA class II deficiency
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
RMRP
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • Victorian Clinical Genetics Services
  • Combined B and T cell defect v1.12
Phenotypes
  • Anauxetic dysplasia 1, 232220
  • Cartilage-hair hypoplasia, with or without immunodeficiency
  • Cartilage-hair hypoplasia
  • Omenn syndrome
  • Cartilage hair hypoplasia
  • Short-limbed dwarfism with metaphyseal dysostosis, sparse hair, bone marrow failure, autoimmunity, susceptibility to lymphoma and other cancers, impaired spermatogenesis, neuronal dysplasia of the intestine
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • locus-type-rna-ribosomal
Green Green List (high evidence)
RNASEH2A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 4 610333, Lupus
  • Type 1 interferonopathies
  • Classical AGS
  • Autoinflammatory Disorders
Green Green List (high evidence)
RNASEH2B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Aicardi-Goutieres syndrome 2 610181
  • Type 1 interferonopathies
  • Classical AGS, SP
  • Autoinflammatory Disorders
Green Green List (high evidence)
RNASEH2C
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 3 610329
  • Type 1 interferonopathies
  • Classical AGS
  • Autoinflammatory Disorders
Green Green List (high evidence)
RNF168
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • RIDDLE syndrome 611943
  • RNF168 deficiency
  • Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
RORC
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Immunodeficiency 42 616622
  • Susceptibility to candidasis & Mycobacterial infection
  • Susceptibility to mycobacteria and candida
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
RPSA
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated congential asplenia 271400
  • Bacteremia (encapsulated bacteria)
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
RTEL1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190
  • Dyskeratosis congenita, 5 615190
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
SAMHD1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 5 612952
  • Type 1 interferonopathies
  • Classical AGS, FCL
  • Autoinflammatory Disorders
Green Green List (high evidence)
SBDS
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Shwachman-Diamond syndrome, 260400
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman-Diamond-syndrome
  • Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
SERPING1
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Angioedema, hereditary, types I and II 106100
  • Hereditary Angioedema (C1inh)
  • Complement component 4, partial deficiency of 120790
  • Hereditary angioedema
  • Complement Deficiencies
Green Green List (high evidence)
SGPL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome 14, 617575
  • drenal insufficiency
  • steroid-resistant nephrotic syndrome
  • focal segmental glomerulosclerosis
  • lymphopenia
Green Green List (high evidence)
SH2D1A
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GOSH PID v.8.0
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 1 308240
  • Lymphoproliferative syndrome, X-linked, 1 (XLP1)
  • X-linked lymphoproliferative syndrome (XLP)
  • EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
SLC29A3
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome 602782
  • Other autoinflammatory diseases with known genetic defect
  • Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
  • Autoinflammatory Disorders
Green Green List (high evidence)
SLC35C1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Congenital disorder of glycosylation, type IIc 266265
  • Leukocyte adhesion deficiency (LAD)
  • Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
SLC37A4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
Phenotypes
  • Glycogen storage disease Ic
  • Glycogen storage disease Ib, 232220
  • Glycogen storage disease Ib
  • Glycogen storage disease type 1b (GS1b)
  • Glycogen storage disease with or without neutropenia
  • Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
SLC46A1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • Folate malabsorption, hereditary 229050
  • Defects of Vitamin B12 and Folate metabolism
  • Congenital defect of folate absorption
  • Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
SMARCAL1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Schimke immunoosseous dysplasia 242900
  • Schimke disease
  • Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
SP110
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Hepatic venoocclusive disease with immunodeficiency 235550
  • Hepatic venoocclusive disease with immunodeficiency (VODI)
  • Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
SPINK5
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Netherton syndrome 256500
  • Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • gene-therapy-trial
  • early-onset
Green Green List (high evidence)
STAT1
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
  • Immunodeficiency 31C, autosomal dominant 614162
  • Immunodeficiency 31A, mycobacteriosis
  • Candidiasis, familial, 7
  • Combined immunodeficiency
  • Chronic mucocutaneous candidiasis (CMC)
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Severe viral infections, mycobacterial infection
  • CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy
  • Susceptibility to mycobacteria, Salmonella
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
STAT2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • STAT2 deficiency
  • Predisposition to several viral infection
  • Immunodeficiency 44, 616636
  • Severe viral infections (disseminated vaccine-strain measles)
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
STAT3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 1 615952
  • Hyper-IgE recurrent infection syndrome 147060
  • Autoimmune disease, multisystem, infantile-onset
  • Early-onset multi-organ autoimmune disease
  • Hyper IgE syndrome (HIES)
  • Combined immunodeficiencies with associated or syndromic features
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Green Green List (high evidence)
STAT5B
5 reviews
2 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
  • SCID v1.6
Phenotypes
  • Growth hormone insensitivity with immunodeficiency 245590
  • T-B+ SCID
  • Combined immunodeficiency
  • Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
STIM1
5 reviews
2 green 3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • SCID v1.6
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • T-B+ SCID
  • Immunodeficiency 10, 612783
  • Combined immunodeficiency
  • Combined immunodeficiency due to STIM1 deficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • Combined immunodeficiencies with associated or syndromic features
  • Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
Green Green List (high evidence)
STK4
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
  • AR hyperimmunoglobulin E syndrome
  • Combined immunodeficiency
  • Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
STX11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 4, 603552
  • FHL4
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH4
  • HLH4
  • Fever, HSM, cHLH, cytopenias,
  • Diseases of Immune Dysregulation
Tags
  • early-onset
Green Green List (high evidence)
STXBP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 5, 613101
  • FHL5
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • Fever, HSM, cHLH, cytopenias, enteropathy
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
TAP1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bare lymphocyte syndrome, type I 604571
  • HLA class I deficiency
  • Vasculitis, pyoderma gangrenosum
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
TAP2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571
  • HLA class I deficiency
  • Wegener-like granulomatosis
  • Vasculitis, pyoderma gangrenosum
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
TAZ
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Congenital neutropaenia v1.22
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
  • 3-methylglutaconic aciduria, type II, 302060
  • Cardiomyopathy, myopathy, growth retardation, neutropenia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
TBK1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Herpes simplex encephalitis, susceptibility to
  • Herpetic encephalitis (HSE)
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
TCF3
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Agammaglobulinemia
  • Agammaglobulinemia 8, autosomal dominant, 616941
  • Primary immunodeficiency
  • Recurrent bacterial infections
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
TCN2
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Agranulocytosis v1.3
  • Combined B and T cell defect v1.12
  • SCID v1.6
  • Congenital neutropaenia v1.22
  • GRID V2.0
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Transcobalamin II deficiency, 275350
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone
  • Transcobalamin-2 precursor
  • Defects of Vitamin B12 and Folate metabolism
  • Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
TICAM1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 6 614850
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
TLR3
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Other
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Herpes simplex encephalitis, susceptibility to, 2
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here)
  • Defects in Intrinsic and Innate Immunity
Tags
  • missense
Green Green List (high evidence)
TMC6
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV)
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
TMC8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • HPV (group B1) infections and cancer of the skin (typical EV)
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
TNFAIP3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • A20 deficiency
  • Autoinflammatory syndrome, familial, Behcet-like, 616744
  • Autoimmune lymphoproliferative syndrome
  • Arthralgia, mucosal ulcers, ocular inflammation
  • Autoinflammatory Disorders
Green Green List (high evidence)
TNFRSF1A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Periodic fever, familial 142680
  • TNF-receptor associated periodic fever syndrome (TRAPS)
  • Recurrent fever, serositis, rash, and ocular or joint inflammation
  • Autoinflammatory Disorders
Green Green List (high evidence)
TPP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Tripeptidyl-Peptidase II Deficiency
  • TPP2 deficiency
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • immune thrombocytopenia and autoimmune hemolytic anemia
  • Evans syndrome
  • Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
TREX1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive
  • Type 1 interferonopathies
  • Classical AGS, SLE, FCL
  • Autoinflammatory Disorders
Green Green List (high evidence)
TRNT1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084
  • congenital sideroblastic anemia, deafness, developmental delay
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
TTC37
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • A- or hypo-gammaglobulinaemia v1.25
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GOSH PID v.8.0
  • GRID V2.0
  • Expert Review Green
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470
  • Intrauterine growth retardation, woolly hair
  • facial dysmorphism
  • intractable diarrhoea in infancy requiring total parenteral nutrition
  • Hypogammaglobulinaemia
  • Trichohepatoenteric syndrome
  • immune dysfunction
  • Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
  • Predominantly Antibody Deficiencies
Tags
  • early-onset
Green Green List (high evidence)
TTC7A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Multiple intestinal atresia and severe combined immunodeficiency
  • Combined immunodeficiency
  • Immunodeficiencies with multiple intestinal atresias
  • Combined immunodeficiency-enteropathy spectrum
  • Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
TYK2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 35 611521
  • Hyper IgE syndrome (HIES)
  • Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
UNC13D
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 3, 608898
  • FHL3
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH3
  • HLH3
  • Fever, HSM, HLH, cytopenias,
  • Diseases of Immune Dysregulation
Tags
  • age-specific-variation
Green Green List (high evidence)
UNC93B1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Herpes simplex encephalitis, susceptibility to, 1
  • Herpetic encephalitis (HSE)
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
UNG
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Green
  • ESID Registry 20171117
  • A- or hypo-gammaglobulinaemia v1.25
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency with hyper IgM, type 5
  • Hyper IgM syndrome with lymphoid hyperplasia
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Immunodeficiency with hyper IgM, type 5, 608106
  • Enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
Green Green List (high evidence)
USB1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropenia, 604173
  • Clericuzio-type poikiloderma with neutropenia syndrome
  • Retinopathy, developmental delay, facial dysmorphisms, poikiloderma
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
VPS13B
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Cohen syndrome, 216550
  • Cohen syndrome
  • Dysmorphism, mental retardation, obesity, deafness, neutropenia
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
VPS45
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Congenital neutropaenia v1.22
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
  • Neutropenia, severe congenital 5
  • VPS45 deficiency (SCN5)
  • Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
WAS
7 reviews
5 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Congenital neutropaenia v1.22
  • GRID V2.0
  • ESID Registry 20171117
  • GOSH PID v.8.0
  • Expert Review Green
  • Combined B and T cell defect v1.12
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Wiskott-Aldrich syndrome
  • Neutropenia, severe congenital, X-linked, 300299
  • X-linked thrombocytopenia
  • Wiskott-Aldrich syndrome (WAS)
  • X-linked thrombocytopenia with mutations in WASP
  • Congenital neutropenia
  • Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis
  • XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp
  • Combined immunodeficiencies with associated or syndromic features
  • Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies
  • Congenital defects of phagocyte number or function
Tags
  • gene-therapy-trial
Green Green List (high evidence)
XIAP
3 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2
  • 300635
  • Lymphoproliferative syndrome, X-linked, 2 (XLP2)
  • X-linked lymphoproliferative syndrome (XLP)
  • haemophagocytic lymphohistiocytosis
  • inflammatory bowel disease
  • splenomegaly
  • EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
ZAP70
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2
  • Immunodeficiency 48
  • Severe Combined Immune Deficiency
  • Selective T-cell defect
  • Zap-70 deficiency
  • Combined immunodeficiency
  • Severe combined immunodeficiency (SCID)
  • May have immune dysregulation, autoimmunity
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe autoimmunity
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
ZBTB24
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency-centromeric instability-facial anomalies syndrome-2 614069
  • Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
ACD
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Dyskeratosis congenita 6, 616553
  • Dyskeratosis congenita 7, 616553
  • Hoyeraal-Hreidarsson syndrome
Tags
  • watchlist
Green Green List (high evidence)
ATP6AP1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Immunodeficiency 47, 300972
  • Hepatopathy, leukopenia, low copper
  • Predominantly Antibody Deficiencies
  • Immunodeficiency and hepatopathy with or without neurologic features
Green Green List (high evidence)
BACH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Lymphocytic colitis, sinopulmonary infections
  • Diseases of Immune Dysregulation
  • infantile onset enterocolitis
  • hypogammaglobulinaemia
  • BACH2-related immunodeficiency and autoimmunity (BRIDA)
Green Green List (high evidence)
C3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • C3 deficiency, 613779
  • Complement component 3 deficiency
  • Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations
  • Atypical hemolytic-uremic syndrome, dense deposit disease
  • Complement Deficiencies
Green Green List (high evidence)
CARD11
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 11A, 615206 (AR)
  • CARD11 deficiency
  • Predominantly antibody deficiencies
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Combined immunodeficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
  • immunodeficiency 11B with atopic dermatitis (AD), 617638
  • Severe atopy, recurrent infections
  • Combined immunodeficiencies with associated or syndromic features
  • Splenomegaly, lymphadenopathy, poor vaccine response
  • Predominantly Antibody Deficiencies
  • Pneumocystis jirovecii pneumonia, bacterial and viral infections
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
CEBPE
3 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Specific granule deficiency, 245480
  • Specific granule deficiency 1
  • CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
  • Recurrent infection due to specific granule deficiency
  • neutrophil lactoferrin deficiency
  • Neutrophils with bilobed nuclei
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
CSF2RB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Alveolar proteinosis
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
CTSC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Papillon-Lefevre syndrome, 245000
  • Periodontitis, palmoplantar hyperkeratosis in some patients
  • Congenital defects of phagocyte number or function
  • Severe periodontitis
  • palmoplantar keratoderma
  • Haim-Munk syndrome, 245010
Green Green List (high evidence)
CYBB
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease, X-linked, 306400
  • Chronic granulomatous disease (CGD)
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
  • Congenital defects of phagocyte number or function
  • Isolated susceptibility to mycobacteria
  • Defects in Intrinsic and Innate Immunity
Tags
  • gene-therapy-trial
Green Green List (high evidence)
DKC1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, X-linked 305000
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections
  • Severe phenotype with DD and cerebellar hypoplasia
  • Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
DNAJC21
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 3, 617052
  • Shwachman-Diamond syndrome-like
  • Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
DNASE2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Glomerulonephritis, arthropathy, vasculitis
  • Autoinflammatory Disorders
  • multisystem autoinflammatory syndrome
  • severe neonatal anemia
  • membranoproliferative glomerulonephritis
  • liver fibrosis
  • deforming arthropathy
  • SLE
Green Green List (high evidence)
ERCC6L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Bone marrow failure syndrome 2, 615715
  • Facial dysmorphism, microcephaly, bone marrow failure
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
F12
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Angioedema, Hereditary, Type III
  • hereditary angioedema
Green Green List (high evidence)
FAT4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
GATA1
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Congenital neutropaenia v1.22
Phenotypes
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
  • thrombocytopenia
  • dyserythropoietic anaemia
  • neutropenia
Green Green List (high evidence)
IFIH1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Aicardi-Goutieres syndrome 7 (AD)
  • Classical AGS, SLE, SP, SMS
  • Autoinflammatory Disorders
  • Rhinovirus and other RNA viruses (AR)
  • susceptibility to RNA viruses
  • Defects in Intrinsic and Innate Immunity
Green Green List (high evidence)
LAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
  • A- or hypo-gammaglobulinaemia v1.25
  • SCID v1.6
  • Combined B and T cell defect v1.12
Phenotypes
  • Immunodeficiency 52, 617514
  • Adenopathy, splenomegaly, recurrent infections, autoimmunity
  • Immunodeficiencies affecting cellular and humoral immunity
Green Green List (high evidence)
MYO5B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
Phenotypes
  • Microvillus inclusion disease 251850
Tags
  • age-specific-variation
Green Green List (high evidence)
NCF4
4 reviews
3 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GOSH PID v.8.0
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
  • Chronic granulomatous disease (CGD)
  • Infections, autoinflammatory phenotype
  • Congenital defects of phagocyte number or function
Green Green List (high evidence)
NHP2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2 613987
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
NSMCE3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241
  • Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
PEPD
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Prolidase deficiency, 170100
  • Autoantibodies common, chronic skin ulcers, eczema, infections
  • Diseases of Immune Dysregulation
Green Green List (high evidence)
POLA1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Hyperpigmentation, characteristic facies, lung and GI involvement
  • Autoinflammatory Disorders
  • Pigmentary disorder, reticulate, with systemic manifestations, X-linked 301220
  • X-linked reticulate pigmentary disorder
  • x-linked cutaneous amyloidosis with systemic features
Green Green List (high evidence)
RASGRP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Green
Phenotypes
  • Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma
  • Diseases of Immune Dysregulation
  • EBV-induced lymphoma
  • Immunodeficiency,
Green Green List (high evidence)
RBCK1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895
  • Other autoinflammatory diseases with known genetic defect
  • HOIL1 deficiency
  • Bacterial infections, autoinflammation, amylopectinosis
  • Combined immunodeficiencies with associated or syndromic features
Green Green List (high evidence)
RIPK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 57, 618108
  • Severe immunodeficiency, arthritis, and intestinal inflammation
Green Green List (high evidence)
SKIV2L
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
Phenotypes
  • Trichohepatoenteric syndrome 2,614602
  • Trichohepatoenteric syndrome
  • Immune dysfunction
Tags
  • early-onset
Green Green List (high evidence)
TMEM173
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset 615934
  • Type 1 interferonopathies
  • Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL
  • Autoinflammatory Disorders
Green Green List (high evidence)
TRAC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiency 7, TCR-alpha/beta deficient, 615387
  • Combined immunodeficiency
  • Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • founder-effect
Green Green List (high evidence)
WIPF1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Wiskott-Aldrich syndrome like, WIP deficiency
  • WIP deficiency
  • ?Wiskott-Aldrich syndrome 2 614493
  • Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
  • Combined immunodeficiencies with associated or syndromic features
Amber Amber List (moderate evidence)
ADAM17
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • GRID V2.0
  • GOSH PID v.8.0
  • IUIS Classification February 2018
Phenotypes
  • Inflammatory skin and bowel disease, neonatal, 1
  • IBD-1
  • inflammatory skin
  • Inflammatory skin and bowel disease, neonatal 1, 614328
  • ADAM17 deficiency
  • Early onset diarrhea and skin lesions
  • Autoinflammatory Disorders
Amber Amber List (moderate evidence)
AP1S3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
Phenotypes
  • Pustular psoriasis, 616106
  • Autoinflammatory Disorders
Amber Amber List (moderate evidence)
BCL10
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Combined immunodeficiency with B cell, T cell, and fibroblast defects
  • ?Immunodeficiency 37, 616098
  • Recurrent bacterial and viral infections, candidiasis, gastroenteritis
  • Immunodeficiencies affecting cellular and humoral immunity
Amber Amber List (moderate evidence)
CARD14
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • CARD14 mediated psoriasis
  • Psoriasis 2, 602723
  • Pityriasis rubra pilaris,173200
  • Other autoinflammatory diseases with known genetic defect
  • Psoriasis
  • Autoinflammatory Disorders
  • immune dysregulation
Amber Amber List (moderate evidence)
CD247
6 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Amber
  • IUIS Classification February 2018
  • SCID v1.6
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GOSH PID v.8.0
Phenotypes
  • T-B+ severe combined immunodeficiency due to CD3zeta
  • ?Immunodeficiency 25
  • T-B+ SCID
  • Immunodeficiency 25, 610163
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Severe combined immunodeficiency (SCID)
  • Nl NK, no g/d T cells
  • Immunodeficiencies affecting cellular and humoral immunity
Amber Amber List (moderate evidence)
CD81
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Amber
  • ESID Registry 20171117
Phenotypes
  • Immunodeficiency, common variable 6, 613496
  • Common variable immunodeficiency disorders (CVID)
  • Isolated IgG subclass deficiency
  • CD81 deficiency
  • hypogammaglobulinaemia
  • Recurrent infections, may have glomerulonephritis
  • Predominantly Antibody Deficiencies
Amber Amber List (moderate evidence)
CD8A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • CD8 deficiency familial, 608957
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation
  • Recurrent infections, may be asymptomatic
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • founder-effect
Amber Amber List (moderate evidence)
CFB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • Complement factor B deficiency, 615561
  • Atypical Hemolytic-uremic syndrome
  • Infections with encapsulated organisms
  • Complement Deficiencies
  • Susceptibility to atypical haemolytic uraemic syndrome (4
  • AD)
  • complement factor B deficiency (AR)
Amber Amber List (moderate evidence)
CFHR1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
  • Complement Deficiencies
Amber Amber List (moderate evidence)
CFHR3
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
  • Complement Deficiencies
Amber Amber List (moderate evidence)
CFHR4
2 reviews
Unknown
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • GRID V2.0
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
  • Complement Deficiencies
Amber Amber List (moderate evidence)
CFHR5
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • GRID V2.0
Phenotypes
  • Nephropathy due to CFHR5 deficiency, 614809
  • Atypical hemolytic uremic syndrome susceptibility
  • Atypical hemolytic-uremic syndrome with anti-factor H antibodies
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
  • Complement Deficiencies
Amber Amber List (moderate evidence)
CFTR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Amber
Phenotypes
  • Cystic fibrosis, 219700
  • Respiratory infections, pancreatic insufficiency, elevated sweat chloride
  • Congenital defects of phagocyte number or function
Amber Amber List (moderate evidence)
CR2
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
Phenotypes
  • Immunodeficiency, common variable, 7, 614699
  • Lupus
  • Immunodeficiency, common variable, 7
  • Common variable immunodeficiency disorders (CVID)
  • Isolated IgG subclass deficiency
  • hypogammaglobulinaemia
  • Recurrent infections
  • Predominantly Antibody Deficiencies
Amber Amber List (moderate evidence)
DNASE1L3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • Systemic lupus erythematosus 16, 614420
  • familial early-onset SLE
  • Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis
  • Diseases of Immune Dysregulation
Tags
  • deletions
  • founder-effect
Amber Amber List (moderate evidence)
FCGR3A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Immunodeficiency 20, 615707
  • Fc receptor deficiencies
  • Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
  • CD16 deficiency
  • severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)
  • Defects in Intrinsic and Innate Immunity
  • predisposition to severe viral infection
Tags
  • watchlist
Amber Amber List (moderate evidence)
FPR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Amber
Phenotypes
  • Periodontitis
  • Localized juvenile peridontitis
  • Periodontitis only
  • Congenital defects of phagocyte number or function
Amber Amber List (moderate evidence)
IGKC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
  • GRID V2.0
  • ESID Registry 20171117
Phenotypes
  • Kappa light chain deficiency, 614102
  • Immunoglobulin chain deficiencies
  • Asymptomatic
  • Predominantly Antibody Deficiencies
Amber Amber List (moderate evidence)
IL17F
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Amber
  • ESID Registry 20171117
Phenotypes
  • Candidiasis, familial, 6, 613956
  • Chronic mucocutaneous candidiasis (CMC)
  • CMC, folliculitis
  • Defects in Intrinsic and Innate Immunity
Amber Amber List (moderate evidence)
IL21
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Amber
Phenotypes
  • Immunodeficiency, common variable, 11, 615767
  • Severe early onset colitis, recurrent sinopulmonary infections
  • Immunodeficiencies affecting cellular and humoral immunity
Amber Amber List (moderate evidence)
IRF3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Expert Review Amber
Phenotypes
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Amber Amber List (moderate evidence)
IRF7
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • IUIS Classification February 2018
  • Expert Review Amber
Phenotypes
  • IRF7 deficiency
  • Severe influenza
  • ?Immunodeficiency 39, 616345
  • Severe influenza disease
  • Defects in Intrinsic and Innate Immunity
Amber Amber List (moderate evidence)
KRAS
2 reviews
Unknown
Sources
  • Expert Review Amber
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • RAS associated lymphoproliferative disease, 614470
  • RALD
Amber Amber List (moderate evidence)
MBL2
4 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Amber
  • Inherited complement deficiency v0.11
  • ESID Registry 20171117
Phenotypes
  • Mannose-Binding Protein Deficiency, 614372
  • Chronic infections, due to MBL deficiency
  • Mannose-binding lectin deficiency (MBL)
Tags
  • curated-variant-list
Amber Amber List (moderate evidence)
NCSTN
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurativa with acne, 142690
  • Defects in Intrinsic and Innate Immunity
  • familial hydradenitis suppurativa
Amber Amber List (moderate evidence)
NOP10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • ESID Registry 20171117
  • IUIS Classification February 2018
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1 224230
  • Dyskeratosis congenita 1
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Amber Amber List (moderate evidence)
NRAS
3 reviews
Other - please specifiy in evaluation comments
Sources
  • GOSH PID v.8.0
  • GRID V2.0
  • Expert Review Amber
  • ESID Registry 20171117
Phenotypes
  • ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470
  • Autoimmune lymphoproliferative syndrome type IV
  • Ras associated lymphoproliferative disease (RALD)
Tags
  • somatic
  • mosaicism
Amber Amber List (moderate evidence)
PMS2
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Expert Review Amber
Phenotypes
  • Mismatch repair cancer syndrome 276300
  • Post-Meiotic Segregation 2 (PMS2) deficiency
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
  • Combined immunodeficiencies with associated or syndromic features
Amber Amber List (moderate evidence)
POLE
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Amber
Phenotypes
  • FILS syndrome 615139
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
  • Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
  • Combined immunodeficiencies with associated or syndromic features
Amber Amber List (moderate evidence)
PSENEN
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurativa
  • Defects in Intrinsic and Innate Immunity
  • Acne inversa, familial, 2, with or without Dowling-Degos disease 613736
Amber Amber List (moderate evidence)
RAC2
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Congenital neutropaenia v1.22
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • SCID v1.6
  • Combined B and T cell defect v1.12
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • T-B- SCID
  • T-B+ SCID
  • Neutrophil immunodeficiency syndrome 608203
  • Neutrophil immunodeficiency syndrome
  • RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2)
  • Poor wound healing, leukocytosis
  • Congenital defects of phagocyte number or function
Tags
  • watchlist
Amber Amber List (moderate evidence)
RHOH
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • RhoH deficiency
  • Combined immunodeficiency
  • Epidermodysplasia verruciformis
  • T cell deficiency and various infectious diseases
  • HPV infection, lung granulomas, molluscum contagiosum, lymphoma
  • Immunodeficiencies affecting cellular and humoral immunity
Amber Amber List (moderate evidence)
SAMD9
2 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
Phenotypes
  • IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen
  • Combined immunodeficiencies with associated or syndromic features
  • MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy)
  • ataxia-thrombocytopenia syndrome
Amber Amber List (moderate evidence)
TAPBP
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • GOSH PID v.8.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare lymphocyte syndrome, type I 604571
  • HLA class I deficiency
  • Vasculitis, pyoderma gangrenosum
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
  • deletions
Amber Amber List (moderate evidence)
TBX1
7 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • SCID v1.6
  • GRID V2.0
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • T-B+ SCID
  • Di George syndrome
  • Severe combined immunodeficiency (SCID)
  • DiGeorge syndrome 188400
  • Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability
  • Combined immunodeficiencies with associated or syndromic features
Amber Amber List (moderate evidence)
TERC
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Dyskeratosis congenita 1
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • locus-type-rna-misc
Amber Amber List (moderate evidence)
TERT
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification February 2018
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Dyskeratosis congenita 2 613989, Dyskeratosis congenita 4 613989
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Tags
  • missense
Amber Amber List (moderate evidence)
TINF2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Amber
  • GRID V2.0
  • IUIS Classification February 2018
Phenotypes
  • Dyskeratosis congenita 3
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
Amber Amber List (moderate evidence)
TNFRSF13C
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Amber
Phenotypes
  • Immunodeficiency, common variable, 4
  • Common variable immunodeficiency disorders (CVID)
  • Isolated IgG subclass deficiency
  • Variable clinical expression
  • Predominantly Antibody Deficiencies
Red Red List (low evidence)
ACTB
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Baraitser-Winter syndrome 1, 243310
  • Phagocytic disorder
  • Actin beta deficiency (ACTB)
  • neutrophil dysfunction
  • Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
  • Mental retardation, short stature
  • Congenital defects of phagocyte number or function
Red Red List (low evidence)
AP3D1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Literature
  • Expert Review Red
Phenotypes
  • ?Hermansky-Pudlak syndrome 10, 617050
  • HSP10
  • Immunodeficient HPS
  • Hermansky-Pudlak syndrome with neutropenia
  • Hermansky-Pudlak syndrome
  • albinism
  • neutropenia
  • neuordevelopmental delay
  • seizures
  • Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay
  • Diseases of Immune Dysregulation
Red Red List (low evidence)
APOL1
2 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Trypanosomiasis, susceptibility to
  • Trypanosomias
  • Trypanosomiasis
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
BCL11B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • ?Immunodeficiency 49, 617237
  • Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
  • Immunodeficiencies affecting cellular and humoral immunity
  • leaky SCID
Red Red List (low evidence)
BLOC1S6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-pudlak syndrome 9, 614171
  • HPS9, palladin deficiency (NK cell defect)
  • Immune Dysregulation
Red Red List (low evidence)
C8G
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Complement factor 8 defect
  • Complement component 8 deficiency
  • Disseminated neisserial infections
  • Complement Deficiencies
Red Red List (low evidence)
CD4
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Selective CD4 cell deficiency
Red Red List (low evidence)
CFHR2
2 reviews
1 red
Unknown
Sources
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Red
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
  • Complement Deficiencies
Red Red List (low evidence)
CLCN7
2 reviews
1 red
Not set
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Osteopetrosis with hypocalcemia, neurologic features
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
CNBP
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Steinert- myotonica dystrophia
Red Red List (low evidence)
COLEC11
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Red Red List (low evidence)
CTC1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
  • Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
ELF4
4 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Red Red List (low evidence)
EPCAM
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital
Red Red List (low evidence)
ERCC2
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
  • CD4 + lymphopenia
Red Red List (low evidence)
ERCC3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Red Red List (low evidence)
FAAP24
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • EBV infection-driven lymphoproliferative disease
  • Diseases of Immune Dysregulation
Red Red List (low evidence)
FBF1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Red Red List (low evidence)
FCGR1A
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Fc receptor deficiencies
Red Red List (low evidence)
FCGR2A
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Fc receptor deficiencies
Red Red List (low evidence)
FCGR2B
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Fc receptor deficiencies
Red Red List (low evidence)
FCGR3B
4 reviews
2 red
Unknown
Sources
  • ESID Registry 20171117
  • Congenital neutropaenia v1.22
  • GRID V2.0
  • Expert Review Red
Phenotypes
  • Neutropenia,alloimmuneneonatal
  • Neutropenia, alloimmune neonatal
  • Fc receptor deficiencies
  • Neutropenia, autoimmune neonatal
  • Neutropenia, autoimmune neonatal
Red Red List (low evidence)
FCGRT
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Fc receptor deficiencies
Red Red List (low evidence)
FCN3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Immunodeficiency due to ficolin 3 deficiency, 613860
  • Ficolin3 deficiency
  • Respiratory infections, abscesses
  • Complement Deficiencies
Red Red List (low evidence)
FPR2
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Localized juvenile peridontitis
Red Red List (low evidence)
FPR3
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Localized juvenile peridontitis
Red Red List (low evidence)
GAD1
5 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1, 603513
Red Red List (low evidence)
GTF2H5
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Red Red List (low evidence)
GUCY2C
2 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • GOSH PID v.8.0
  • Expert Review Red
Phenotypes
  • Diarrhea 6, 614616
  • meconium ileus
Red Red List (low evidence)
HMOX1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Hemolysis, nephritis, inflammation
  • Defects in Intrinsic and Innate Immunity
  • amyloidosis
Red Red List (low evidence)
HPS1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Hermansky-Pudlak syndrome 1
  • oculocutaneous albinism
  • bleeding
  • inflammatory bowel disease
  • pulmonary fibrosis
Red Red List (low evidence)
HPS4
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Hermansky-Pudlak syndrome 4
Red Red List (low evidence)
HPS6
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Hermansky-Pudlak syndrome 6
Red Red List (low evidence)
HYOU1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Hypoglycemia, inflammatory complications
  • Congenital defects of phagocyte number or function
Red Red List (low evidence)
ICOSLG
2 reviews
1 red
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Red Red List (low evidence)
IFNAR2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • ?Immunodeficiency 45, 616669
  • Severe viral infections (disseminated vaccine-strain measles, HHV6)
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
IGHG2
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Immunoglobulin chain deficiencies
Red Red List (low evidence)
IL17A
2 reviews
1 red
Not set
Sources
  • GRID V2.0
  • Expert Review Red
Phenotypes
  • Immunodeficiency 5
  • Arthritis
Red Red List (low evidence)
IL18
2 reviews
1 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
Red Red List (low evidence)
IL22
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • AutoAb Chronic Mucocutaneous Candidiasis
Red Red List (low evidence)
IL23A
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
Red Red List (low evidence)
IRAK1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Bacterial infections, X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
IRF2BP2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Recurrent infections, possible autoimmunity and inflammatory disease
  • Predominantly Antibody Deficiencies
  • CVID
Red Red List (low evidence)
ITGAM
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Systemic lupus erythematous
Red Red List (low evidence)
JAK1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections
  • Diseases of Immune Dysregulation
  • Susceptibility to mycobacteria and viruses, urothelial carcinoma
  • Defects in Intrinsic and Innate Immunity
  • Hypereosinophilic syndrome
Red Red List (low evidence)
KDM6A
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Kabuki Syndrome 2 due to KDM6A deficiency
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
KMT2A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Unclassified antibody deficiency
  • Wiedemann-Steiner syndrome with Congenital immunodeficiency
Red Red List (low evidence)
KMT2D
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Kabuki syndrome 1, 147920
  • Typical facial abnormalities, cleft or high arched palate, skeletal abnormalities, short stature, intellectual disability, congenital heart defects, recurrent infections (otitis media, pneumonia) in 50% of patients. Autoimmunity may be present
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
LIG1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Other
  • IUIS Classification February 2018
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Red
Phenotypes
  • DNA ligase I deficiency
  • DNA-ligase 1 ATP-dependent deficiency (LIG1)
  • Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
LRRC8A
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Agammaglobulinemia 5, 613506
  • Agammaglobulinemia
Red Red List (low evidence)
MASP1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Red Red List (low evidence)
MASP2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • MASP2 deficiency 613791
  • Mannan-binding lectin serine protease (MASP) deficiency
  • Pyogenic infections, inflammatory lung disease, autoimmunity
  • Complement Deficiencies
Red Red List (low evidence)
MKL1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Susceptibility to severe bacterial infection
  • Mild thrombocytopenia
  • Congenital defects of phagocyte number or function
Tags
  • new-gene-name
Red Red List (low evidence)
MPI
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Red Red List (low evidence)
MPO
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Myeloperoxidase deficiency 254600
Red Red List (low evidence)
MRE11
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Ataxia-telangiectasia-like disorder 1 604391
  • AT-like disorder
Red Red List (low evidence)
MS4A1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • IUIS Classification February 2018
  • GRID V2.0
  • Expert Review Red
Phenotypes
  • Immunodeficiency, common variable, 5 613495
  • Common variable immunodeficiency disorders (CVID)
  • Recurrent infections
  • Predominantly Antibody Deficiencies
Red Red List (low evidence)
MSH6
3 reviews
3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
  • GRID V2.0
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350
  • Endometrial cancer, familial 608089
  • Mismatch repair cancer syndrome 276300
  • Family or personal history of cancer
  • Predominantly Antibody Deficiencies
Red Red List (low evidence)
NBAS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Fever induced liver failure
  • Infantile liver failure syndrome 2, 616483
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
NFAT5
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • NFAT5 haploinsufficieny
  • IBD, recurrent sinopulmonary infections
  • Diseases of Immune Dysregulation
Tags
  • watchlist
Red Red List (low evidence)
NFKBID
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Red Red List (low evidence)
NLRP1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Dyskeratosis, autoimmunity and arthritis
  • Autoinflammatory Disorders
  • Autoinflammation with arthritis and dyskeratosis
Red Red List (low evidence)
OSTM1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Osteopetrosis with hypocalcemia, neurologic features
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
PLEKHM1
2 reviews
1 red
Not set
Sources
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Osteopetrosis
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
POLE2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
PSEN1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurative with cutaneous hyperpigmentation
  • Defects in Intrinsic and Innate Immunity
  • Acne inversa, familial, 3 613737
Red Red List (low evidence)
PSMA3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Red Red List (low evidence)
PSMB4
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Red Red List (low evidence)
PSMB9
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Red Red List (low evidence)
PTEN
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Lymphoproliferation, Autoimmunity
  • Predominantly Antibody Deficiencies
Red Red List (low evidence)
RANBP2
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Fever induces acute encephalopathy
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
RECQL4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Combined immunodeficiency
  • Rothmund-Thomson syndrome, 268400
Red Red List (low evidence)
RELB
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Combined B and T cell defect v1.12
  • IUIS Classification February 2018
Phenotypes
  • ?Immunodeficiency 53, 617585
  • Recurrent infections
  • Immunodeficiencies affecting cellular and humoral immunity
Red Red List (low evidence)
RET
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GOSH PID v.8.0
  • Expert Review Red
Phenotypes
  • Central hypoventilation syndrome, congenital 209880
Red Red List (low evidence)
RNF31
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency
  • autoinflammation and combined immunodeficiency
  • Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
  • Combined immunodeficiencies with associated or syndromic features
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Red Red List (low evidence)
RNU4ATAC
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
SAMD9L
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
SART3
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Porokeratosis
Red Red List (low evidence)
SEMA3E
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Charge syndrome 214800
  • CHARGE syndrome
  • immune-mediated cerebellar ataxia
  • Coloboma, heart anomaly, choanal atresia, intellectual retardation, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
SH3BP2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GRID V2.0
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Red
Phenotypes
  • Cherubism 118400
  • Other autoinflammatory diseases with known genetic defect
  • Bone degeneration in jaws
  • Autoinflammatory Disorders
Red Red List (low evidence)
SMARCD2
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia
  • Congenital defects of phagocyte number or function
Red Red List (low evidence)
SNX10
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis with visual impairment
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
SRP54
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Schwachman Diamond features
  • Congenital defects of phagocyte number or function
Red Red List (low evidence)
STAT5A
3 reviews
3 red
Unknown
Sources
  • GOSH PID v.8.0
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • Combined immunodeficiency
  • Defects with susceptibility to mycobacterial infection (MSMD)
Red Red List (low evidence)
STN1
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
  • Combined immunodeficiencies with associated or syndromic features
Red Red List (low evidence)
TCIRG1
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis with hypocalcemia
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
TFRC
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, neutropenia, thrombocytopenia
  • Immunodeficiencies affecting cellular and humoral immunity
Red Red List (low evidence)
THBD
3 reviews
1 red
Unknown
Sources
  • IUIS Classification February 2018
  • Expert Review Red
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6
  • Thrombomodulin deficiency
  • Atypical hemolytic-uremic syndrome
  • Complement Deficiencies
Red Red List (low evidence)
TIRAP
2 reviews
2 red
Not set
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • IUIS Classification February 2018
Phenotypes
  • Defects of TLR/NFkappa-B signalling
  • TIRAP deficiency
  • Staphylococcal disease during childhood
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
TNFRSF11A
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
TNFRSF13B
7 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • IUIS Classification February 2018
  • Expert Review Red
  • A- or hypo-gammaglobulinaemia v1.25
  • GRID V2.0
  • GOSH PID v.8.0
Phenotypes
  • Immunodeficiency, common variable, 2
  • Immunoglobulin A deficiency 2, 609529
  • Immunodeficiency, common variable, 2, 240500
  • Common variable immunodeficiency disorders (CVID)
  • Selective IgA deficiency
  • IgA with IgG subclass deficiency
  • Isolated IgG subclass deficiency
  • CVID
  • IGAD
  • Variable clinical expression
  • Predominantly Antibody Deficiencies
Red Red List (low evidence)
TNFRSF4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency
  • Combined immunodeficiency
  • Impaired immunity to HHV8, Kaposis sarcoma
  • Immunodeficiencies affecting cellular and humoral immunity
Red Red List (low evidence)
TNFSF11
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis with severe growth retardation
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
TNFSF12
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency, common variable with lack of anti-pneumococcal antibody
  • Common variable immunodeficiency disorders (CVID)
  • Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia
  • Predominantly Antibody Deficiencies
Red Red List (low evidence)
TRAF3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
  • Expert Review Red
  • ESID Registry 20171117
Phenotypes
  • {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849
  • Herpes simplex encephalitis, susceptibility to, 3
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
TRAF3IP2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • GRID V2.0
  • IUIS Classification February 2018
  • ESID Registry 20171117
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Candidiasis, familial, 8 615527
  • Chronic mucocutaneous candidiasis (CMC)
  • CMC, blepharitis, folliculitis and macroglossia
  • Defects in Intrinsic and Innate Immunity
Red Red List (low evidence)
UNC119
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Immunodeficiency 13/ UNC119 deficiency
  • Combined immunodeficiency
  • Immunodeficiency 13 615518
Red Red List (low evidence)
USP18
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • TORCH like syndrome
  • Autoinflammatory Disorders
Red Red List (low evidence)
WDR1
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate
  • Congenital defects of phagocyte number or function
Red Red List (low evidence)
WRAP53
1 review
Not set
Sources
  • IUIS Classification February 2018
Phenotypes
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features

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