Description
This is a research gene panel, currently in progress, to list genes associated with susceptibility to viral infection, covering SARS-CoV-2 and susceptibility to other viral infections.  

We encourage experts to review the genes to help establish a list of 'Green' (high level of evidence) genes for susceptibility to viral infection. Missing genes can be added to the panel by Reviewers, or please submit a list to [email protected]. 

The research panel has been constructed from the following key sources:
- Genes and reviews have been transferred from the Primary Immunodeficiency gene panel (https://panelapp.genomicsengland.co.uk/panels/398/) - see the panel for full details on the original sources.
- Genes sourced from the International Union of Immunological Societies (IUIS - http://www.iuisonline.org) have been promoted to Green
- Genes from the 'Susceptibility to Viral Infections' gene panel on PanelApp Australia https://panelapp.agha.umccr.org/panels/237/ were added
- Genes associated with Viral susceptibility from the literature.
- Genes associated with Viral susceptibility from OMIM.

This is a gene panel for research use. Therefore the evidence level required for a gene to be Green may be more inclusive than our guidelines for monogenic diseases. When curating the panel, the main question we are looking to answer is whether there is anything that could explain at least part of the severity of this infection. The below examples provide some guidelines when reviewing genes. Note that evidence may be applicable to particular ethnicities/populations only.

Green Rating: Good evidence that variations in this gene could explain at least part of the severity of this infection.
Examples of suitable evidence (but not limited to):
-Multiple clinical cases/SNPs/population studies that demonstrate particular variants confer susceptibility to viral infection or response.
-One clinical case/SNPs/population study that demonstrates particular variants confer susceptibility to viral infection or response, PLUS additional evidence, e.g. animal model/ interaction or pathway data/in-silico data that indicates an effect on viral susceptibility.
-A consensus within the Research and/or Clinical community that these genes may be involved in the viral response and therefore should be tested within the remit of a research panel.
-Previous strong evidence that the gene is involved in a primary immunodeficiency disorder.
-The gene is on the current list compiled by the International Union of Immunological Societies (IUIS).

Amber Rating: Some evidence that variations in this gene could explain at least part of the severity of this infection.
Examples of suitable evidence (but not limited to):
-One clinical case/SNPs/population study that demonstrates particular variants confer susceptibility to viral infection or response.
-One piece of evidence, e.g. animal model/interaction or pathway data/in-silico data that demonstrates that gene variations may confer susceptibility to viral infection or response.
 
Red Rating: Limited evidence that variations in this gene could explain at least part of the severity of this infection.
Examples of suitable evidence (but not limited to):
-A single expression study or initial evidence from an animal model that needs further consolidation.
-Refuted evidence.

24 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

  • Alison Coffey (Illumina)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • 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

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

  • Ilenia Simeoni (Addenbrooke's Hospital Cambridge Biomedical Campus)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Abdelazeem Elhabyan (Arizona State University)

    Group: Other
    Workplace: Other clinical service

  • Julie Taylor (Illumina Clinical Services Laboratory (ICSL))

    Group: Other biotech or pharmaceutical
    Workplace: Other diagnostic lab

675 Entities

666 reviewed, 458 green

List Entity Reviews Mode of inheritance Details
675 Entitiess
Green Green List (high evidence)
ABO
3 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Virus susceptibility
Tags
Green Green List (high evidence)
ACD
4 reviews
4 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Dyskeratosis congenita 6, 616553
  • Dyskeratosis congenita 7, 616553
  • Hoyeraal-Hreidarsson syndrome
Tags
Green Green List (high evidence)
ACE2
5 reviews
Unknown
Sources
  • Expert Review Green
  • Other
Tags
  • treatable
Green Green List (high evidence)
ACP5
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation Type 1 interferonopathies
  • Short stature, SP, ICC, SLE, thrombocytopenia and autoimmune hemolytic anemia, possibly recurrent bacterial and viral infections
  • Spondyloenchondrodysplasia with immune dysregulation, 607944
  • Type 1 interferonopathies
  • Autoinflammatory Disorders
Tags
Green Green List (high evidence)
ACTB
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital defects of phagocyte number or function
  • neutrophil dysfunction
  • Mental retardation, short stature
  • Actin beta deficiency (ACTB)
  • Phagocytic disorder
  • Poor neutrophil chemotaxis, oxidative burst and actin remodeling. Thrombocytopenia
  • Baraitser-Winter syndrome 1, 243310
Tags
Green Green List (high evidence)
ADA
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, 102700
  • Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • Adenosine deaminase (ADA) deficiency
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID
  • Severe combined immunodeficiency due to ADA deficiency (some mosiacism noted)
Tags
Green Green List (high evidence)
ADA2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Evans' syndrome
  • Polyarteritis nodosa, childhood-onset, 615688
  • combined immunodeficiency
  • Polyarteritis nodosa
  • Deficiency of ADA2 (DADA2)
  • Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever
  • Autoinflammatory Disorders
  • Fever with early onset stroke
  • ADA2 deficiency
Tags
Green Green List (high evidence)
ADAM17
6 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • IBD-1
  • ADAM17 deficiency
  • Inflammatory skin and bowel disease, neonatal, 1
  • Inflammatory skin and bowel disease, neonatal 1, 614328
  • Autoinflammatory Disorders
  • inflammatory skin
  • Early onset diarrhea and skin lesions
Tags
Green Green List (high evidence)
ADAR
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Fever Syndromes and Related Diseases, Aicardi-Goutieres syndrome 6, 615010
  • Type 1 interferonopathies
  • Autoinflammatory Disorders
  • AGS6
  • Classical AGS, BSN, SP
Tags
Green Green List (high evidence)
AICDA
6 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper IgM syndrome with lymphoid hyperplasia
  • Primary Immune Deficiencies
  • Immunodeficiency with hyper-IgM, type 2, 605258
  • Bacterial infections, enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
  • Immunodeficiency with hyper-IgM, type 2
  • CSR defects and Hyper IgM (HIGM) syndromes
Tags
Green Green List (high evidence)
AIM2
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
AIRE
4 reviews
4 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia, 240300
  • Multiple endocrine deficiency Addison disease candidiasis syndrome
  • Autoimmune hypoparathyroidism chronic candidiasis Addison disease syndrome
  • Diseases of Immune Dysregulation
  • Chronic mucocutaneous candidiasis (CMC)
  • Autoimmunity: hypoparathyroidism hypothyroidism, adrenal insufficiency, diabetes, gonadal dysfunction and other endocrine abnormalities, chronic mucocutaneous candidiasis, dental enamel hypoplasia, alopecia areata enteropathy, pernicious anemia
  • Hypoparathyroidism Addison disease mucocutaneous candidiasis syndrome
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Tags
Green Green List (high evidence)
AK2
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Reticular dysgenesis, AK2 deficiency
  • Granulocytopenia and deafness
  • Reticular dysgenesis, 267500
  • Reticular dysgenesis with sensorineural deafness
  • Reticular Dysgenesis AK2 (SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
ALPI
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory Disorders
  • ALPI deficiency
  • Inflammatory bowel disease
Tags
Green Green List (high evidence)
AP1S3
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Pustular psoriasis, 616106
  • Pustular psoriasis
  • Autoinflammatory Disorders
Tags
Green Green List (high evidence)
AP3B1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH
  • Immunodeficient HPS
  • Hermansky-Pudlak syndrome 2
  • Diseases of Immune Dysregulation
  • Hermansky-Pudlak syndrome with neutropenia
  • Hermansky-Pudlak syndrome, 608233
  • HPS2
Tags
Green Green List (high evidence)
AP3D1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Literature
Phenotypes
  • neutropenia
  • Immunodeficient HPS
  • seizures
  • Diseases of Immune Dysregulation
  • Hermansky-Pudlak syndrome with neutropenia
  • neuordevelopmental delay
  • albinism
  • ?Hermansky-Pudlak syndrome 10, 617050
  • Hermansky-Pudlak syndrome
  • Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay
  • Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay
  • HSP10
Tags
Green Green List (high evidence)
APOL1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Trypanosomias
  • Trypanosomiasis, susceptibility to
  • Defects in Intrinsic and Innate Immunity
  • Trypanosomiasis
Tags
Green Green List (high evidence)
ARHGEF1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Predominantly Antibody Deficiencies
  • Recurrent infections, bronchiectasis
  • Immunodeficiency 62, 618459
  • ARHGEF1 deficiency
Tags
Green Green List (high evidence)
ARPC1B
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • inflammatory predisposition
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718
  • Mild thrombocytopenia with normal sized platelets, recurrent invasive infections, colitis, vasculitis, autoantibodies (ANA, ANCA), eosinophilia, defective Arp2/3, filament branching
  • Immunodeficiency with thrombocytopenia
  • Combined immunodeficiencies with associated or syndromic features
  • Thrombocytopenia & Immune Deficiency
Tags
Green Green List (high evidence)
ATM
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia telangiectasia (ATM)
  • immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Ataxia, telangiectasia, pulmonary infections, lymphoreticular and other malignancies, increased alpha fetoprotein, increased radiosensitivity, chromosomal instability and chromosomal translocations
  • Ataxia-telangiectasia, 208900
Tags
Green Green List (high evidence)
ATP6AP1
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Immunodeficiency and hepatopathy with or without neurologic features
  • Hepatopathy, leukopenia, low copper
  • Predominantly Antibody Deficiencies
  • Immunodeficiency 47, 300972
Tags
Green Green List (high evidence)
B2M
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
BACH2
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Diseases of Immune Dysregulation
  • BACH2-related immunodeficiency and autoimmunity (BRIDA)
  • hypogammaglobulinaemia
  • infantile onset enterocolitis
  • Lymphocytic colitis, sinopulmonary infections
Tags
Green Green List (high evidence)
BCL10
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
BCL11B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • leaky SCID
  • ?Immunodeficiency 49, 617237
  • Immunodeficiencies affecting cellular and humoral immunity
  • Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits
Tags
Green Green List (high evidence)
BLK
1 review
1 green
Unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kawasaki disease
Tags
Green Green List (high evidence)
BLM
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Bloom syndrome, 210900
  • Short stature, dysmorphic facies, sun-sensitive erythema, marrow failure, leukemia, lymphoma, chromosomal instability
Tags
Green Green List (high evidence)
BLNK
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia
  • Agammaglobulinemia 4, 613502
  • Severe bacterial infections, normal numbers of pro-B cells
  • Agammaglobulinemia 4
  • Predominantly Antibody Deficiencies
  • agammaglobulinaemia with absent B cells
Tags
Green Green List (high evidence)
BRCA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group S, 617883
  • normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Bone marrow failure
  • Fanconi Anemia Type S
Tags
Green Green List (high evidence)
BRCA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group D1, 605724
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Bone marrow failure
  • Fanconi Anemia Type D1
Tags
Green Green List (high evidence)
BRIP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group J, 609054
Tags
Green Green List (high evidence)
BTK
8 reviews
7 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia, X-linked 1, 300755
  • Agammaglobulinemia, X-linked
  • Agammaglobulinemia, X-linked 1 (XLA)
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • agammaglobulinaemia
  • Agammaglobulinemia and isolated hormone deficiency, 307200
  • Agammaglobulinemia and isolated hormone deficiency
  • Predominantly Antibody Deficiencies
  • CVID
Tags
Green Green List (high evidence)
C17orf62
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Autosomal recessive CGD EROS
  • Congenital defects of phagocyte number or function
Tags
Green Green List (high evidence)
C1QA
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • SLE, infections with encapsulated organisms
  • Complement component 1 deficiency
  • C1q deficiency, 613652
  • Complement Deficiencies
  • Immunodeficiency due to a classical component pathway complement deficiency
Tags
Green Green List (high evidence)
C1QB
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • Inherited complement deficiency v0.11
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • SLE, infections with encapsulated organisms
  • SLE
  • lupus-like disease
  • Complement component 1 deficiency
  • Immunodeficiency due to an early component of complement deficiency, 613652
  • C1q deficiency
  • susceptibility to invasive bacterial infection
  • Complement Deficiencies
Tags
Green Green List (high evidence)
C1QC
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • SLE, infections with encapsulated organisms
  • Complement component 1 deficiency
  • C1q deficiency, 613652
  • Complement Deficiencies
  • Immunodeficiency due to a classical component pathway complement deficiency
Tags
Green Green List (high evidence)
C1R
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2020
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • SLE
  • pyogenic infections
  • Complement component 1 deficiency
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
  • C1r/C1s deficiency, combined, Lupus
  • Immunodeficiency due to a classical component pathway complement deficiency
Tags
Green Green List (high evidence)
C1S
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2021
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • SLE
  • pyogenic infections
  • Complement component 1 deficiency
  • SLE, infections with encapsulated organisms, Ehlers Danlos phenotype
  • Complement Deficiencies
  • C1s deficiency, 613783
  • C1s deficiency, Lupus
Tags
Green Green List (high evidence)
C2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • Inherited complement deficiency v0.11
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Component C2 Deficiency
  • Lupus
  • Complement Deficiencies
  • SLE, infections with encapsulated organisms, atherosclerosis
  • C2 deficiency, 217000
  • Immunodeficiency due to C1, C4, or C2 component complement deficiency
Tags
Green Green List (high evidence)
C3
5 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2022
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Complement component 3 deficiency
  • Atypical hemolytic-uremic syndrome, dense deposit disease
  • Infections, glomerulonephritis, atypical hemolytic-uremic syndrome with GOF mutations
  • C3 deficiency, 613779
Tags
Green Green List (high evidence)
C4A
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • C4a deficiency, 614380
  • Complement Deficiencies
  • SLE, infections with encapsulated organisms , partial deficiency is common (either C4A or C4B) and appears to have a modest effect on host defense
  • Complement component 4 deficiency
  • SLE predisposition
  • Immunodeficiency due to a classical component pathway complement deficiency
  • infections with encapsulated organisms
Tags
Green Green List (high evidence)
C4B
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • C4B deficiency, 614379
  • 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
  • SLE predisposition
Tags
Green Green List (high evidence)
C5
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • C5 deficiency, 609536
  • Disseminated neisserial infections
  • Complement Deficiencies
  • Complement component 5 deficiency
  • Susceptibility to invasive bacterial infection, especially meningococcal
Tags
Green Green List (high evidence)
C6
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Disseminated neisserial infections
  • C6 deficiency, 612446
  • Complement Deficiencies
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • Complement component 6 deficiency
Tags
Green Green List (high evidence)
C7
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Disseminated neisserial infections
  • Complement component 7 deficiency
  • Complement Deficiencies
  • C7 deficiency, 610102
  • Susceptibility to invasive bacterial infection, especially meningococcal
Tags
Green Green List (high evidence)
C8A
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Disseminated neisserial infections
  • Complement component 8 deficiency
  • C8 deficiency, type I, 613790
  • Complement Deficiencies
  • Susceptibility to invasive bacterial infection, especially meningococcal
Tags
Green Green List (high evidence)
C8B
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Disseminated neisserial infections
  • C8 deficiency, type II, 613789
  • Complement component 8 deficiency
  • Complement Deficiencies
  • Susceptibility to invasive bacterial infection, especially meningococcal
Tags
Green Green List (high evidence)
C8G
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Complement factor 8 defect
  • Complement component 8 deficiency
  • Disseminated neisserial infections
Tags
Green Green List (high evidence)
C9
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Mild susceptibility to disseminated neisserial infections
  • Complement component 9 deficiency
  • Complement Deficiencies
  • Susceptibility to invasive bacterial infection, especially meningococcal
  • C9 deficiency, 613825
Tags
Green Green List (high evidence)
CARD11
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • immunodeficiency 11B with atopic dermatitis (AD), 617638
  • CARD11 deficiency
  • Combined immunodeficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Pneumocystis jirovecii pneumonia, bacterial and viral infections
  • Severe atopy, recurrent infections
  • B cell expansion with NFKB and T cell anergy (BENTA) (AD), 616452
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Splenomegaly, lymphadenopathy, poor vaccine response
  • Immunodeficiencies affecting cellular and humoral immunity
  • Predominantly Antibody Deficiencies
  • Predominantly antibody deficiencies
  • Combined immunodeficiencies with associated or syndromic features
  • Immunodeficiency 11A, 615206 (AR)
Tags
Green Green List (high evidence)
CARD14
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Psoriasis 2, 602723
  • Autoinflammatory Disorders
  • Pityriasis rubra pilaris,173200
  • immune dysregulation
  • CARD14 mediated psoriasis
  • Psoriasis
Tags
Green Green List (high evidence)
CARD9
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Predisposition to invasive fungal disease due to CARD9 deficiency
  • 212050
  • CARD9 deficiency
  • Invasive candidiasis infection, deep dermatophytoses, other invasive fungal infections
  • Candidiasis, familial, 2
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
CARMIL2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • warts, molluscum contagiosum, and T cell dysfunction
  • Combined immunodeficiency
  • Recurrent bacterial, fungal and mycobacterial infections, viral warts, molluscum and EBV lymphoproliferative and other malignancy, atopy
  • Diseases of Immune Dysregulation
  • EBV+ disseminated smooth muscle tumours
Tags
Green Green List (high evidence)
CASP1
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
CASP10
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenopathies, splenomegaly, autoimmunity
  • Autoimmune lymphoproliferative syndrome, type II, 603909
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
CASP3
1 review
Unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kawasaki disease
Tags
Green Green List (high evidence)
CASP8
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Caspase-8 deficiency state
  • Immunodeficiency due to CASP8 deficiency
  • CEDS
  • ?Autoimmune lymphoproliferative syndrome, type IIB, 607271
  • Diseases of Immune Dysregulation
  • Caspase 8 deficiency
  • Autoimmune lymphoproliferative syndrome (ALPS)
  • Adenopathies, splenomegaly, bacterial and viral infections, hypogammaglobulinemia
Tags
Green Green List (high evidence)
CCBE1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
  • Hennekam lymphangiectasia-lymphedema syndrome 1, 235510
Tags
Green Green List (high evidence)
CCL2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • {HIV-1, resistance to}, 609423
  • Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
  • Susceptibility to SARS-CoV
  • Susceptibility to viral Japanese encephalitis
Tags
Green Green List (high evidence)
CCL5
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
  • Susceptibility to SARS-CoV
Tags
Green Green List (high evidence)
CCR2
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
CD14
4 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
  • Susceptibility to SARS-CoV
Tags
Green Green List (high evidence)
CD19
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 3
  • Isolated IgG subclass deficiency
  • Recurrent infections, may have glomerulonephritis
  • Immunodeficiency, common variable, 3 613493
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • hypogammaglobulinemia
Tags
Green Green List (high evidence)
CD244
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
CD247
6 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Immunodeficiency 25
  • T-B+ severe combined immunodeficiency due to CD3zeta
  • Immunodeficiency 25, 610163
  • Nl NK, no g/d T cells
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency (SCID)
Tags
Green Green List (high evidence)
CD27
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphoproliferative syndrome 2
  • Combined immunodeficiency
  • Diseases of Immune Dysregulation
  • Features triggered by EBV infection, HLH, aplastic anemia, low iNKT cells, lymphoma
  • Combined immunodeficiency with EBV-associated lymphoproliferation
  • CD27 deficiency
Tags
Green Green List (high evidence)
CD3D
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • CD3d deficiency
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Nl NK, no g/d T cells
  • Immunodeficiency 19
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
  • Severe combined immunodeficiency (SCID)
Tags
Green Green List (high evidence)
CD3E
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency due to defect in CD3-epsilon
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Nl NK, no g/d T cells
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Immunodeficiency 18, SCID variant
  • Severe combined immunodeficiency (SCID)
  • CD3e deficiency
Tags
Green Green List (high evidence)
CD3G
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 17, CD3 gamma deficient 615607
  • CD3z deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • N/A
Tags
Green Green List (high evidence)
CD40
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Immunodeficiency with hyper-IgM, type 3
  • Hyper-IgM syndrome due to CD40 deficiency
  • non-X-linked hyper IgM syndrome
  • Immunodeficiencies affecting cellular and humoral immunity
  • HIGM3
  • CD40 deficiency
  • Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections
  • CSR defects and Hyper IgM (HIGM) syndromes
Tags
Green Green List (high evidence)
CD40LG
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper-IGM immunodeficiency, X-linked
  • HIGM
  • Hyper-IGM syndrome
  • Hyper-IgM syndrome type 1
  • Neutropenia, thrombocytopenia, hemolytic anemia, opportunistic infections, biliary tract and liver disease, Cryptosporidium infections
  • XHIM
  • Immunodeficiency, X-linked, with hyper-IgM
  • Immunodeficiencies affecting cellular and humoral immunity
  • Hyper-IgM syndrome due to CD40 ligand deficiency
  • Hyper-IgM syndrome due to CD40L deficiency
  • IHIS
  • HIGM1
  • IMD3
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Immunodeficiency 3
  • CD40 ligand deficiency
Tags
Green Green List (high evidence)
CD46
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
  • atypical HUS
  • Membrane Cofactor Protein (CD46) deficiency
  • Complement Deficiencies
  • Atypical hemolytic-uremic syndrome, infections, preeclampsia
Tags
Green Green List (high evidence)
CD55
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • primary intestinal lymphangiectasia
  • protein-losing enteropathy
  • Protein losing enteropathy, thrombosis
  • Decay-accelerating factor for complement deficiency (DAF CD55)
  • Complement Deficiencies
  • hypogammaglobulinaemia
  • angiopathic thrombosis
Tags
Green Green List (high evidence)
CD59
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Primary CD59 deficiency
  • paroxysmal nocturnal haemoglobinuria
  • CD59 antigen P18-20 deficiency (CD59)
  • Hemolytic anemia, polyneuropathy
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
  • childhood relapsing immune-mediated polyneuropathy
  • Complement Deficiencies
  • chronic hemolysis
  • Membrane Attack Complex Inhibitor (CD59) deficiency
Tags
Green Green List (high evidence)
CD70
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Combined immunodeficiency
  • CD70-deficiency
  • Diseases of Immune Dysregulation
  • EBV-related malignancy
  • EBV susceptibility, Hodgkin lymphoma
Tags
Green Green List (high evidence)
CD79A
7 reviews
5 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia
  • Agammaglobulinemia 3, 613501
  • Severe bacterial infections, normal numbers of pro-B cells
  • Agammaglobulinemia with autosomal recessive inheritance (ARA)
  • Predominantly Antibody Deficiencies
  • CD79A deficiency
  • Agammaglobulinemia 3
Tags
Green Green List (high evidence)
CD79B
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Agammaglobulinemia 6, 612692
  • CD79B deficiency, Agammaglobulinemia with autosomal recessive inheritance (ARA)
  • Agammaglobulinemia 6
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
CD81
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • CD81 deficiency
  • Isolated IgG subclass deficiency
  • Recurrent infections, may have glomerulonephritis
  • Common variable immunodeficiency disorders (CVID)
  • hypogammaglobulinaemia
  • Predominantly Antibody Deficiencies
  • Immunodeficiency, common variable 6, 613496
Tags
Green Green List (high evidence)
CD8A
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent infections, may be asymptomatic
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation
  • CD8 deficiency familial, 608957
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
CDC42
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Neonatal-onset cytopaenia with dyshaematopoiesis
  • autoinflammation
  • rash
  • HLH
Tags
Green Green List (high evidence)
CDCA7
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • ICF
  • recurrent respiratory infections
  • ICF3
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910
  • immunodeficiency, centromeric instability, facial anomalies syndrome type 3
  • hypogammaglobulinaemia
  • enteropathy
  • Combined immunodeficiencies with associated or syndromic features
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Immunodeficiency-centromeric instability-facial anomalies syndrome
Tags
Green Green List (high evidence)
CEBPE
5 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Specific granule deficiency 1
  • Recurrent infection due to specific granule deficiency
  • Congenital defects of phagocyte number or function
  • Specific granule deficiency, 245480
  • Neutrophils with bilobed nuclei
  • neutrophil lactoferrin deficiency
  • CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
Tags
Green Green List (high evidence)
CFB
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Infections with encapsulated organisms
  • Complement Deficiencies
  • complement factor B deficiency (AR)
  • Atypical Hemolytic-uremic syndrome
  • Complement factor B deficiency, 615561
  • Susceptibility to atypical haemolytic uraemic syndrome 4 (AD)
Tags
Green Green List (high evidence)
CFD
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • Inherited complement deficiency v0.11
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor D deficiency, 613912
  • Neisserial infections
  • Recurrent Neisseria infections due to factor D deficiency
  • Complement Deficiencies
  • Complement factor D deficiency
  • Factor D deficiency
Tags
Green Green List (high evidence)
CFH
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • Inherited complement deficiency v0.11
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Complement factor H deficiency, 609814
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia, dense deposit disease
Tags
Green Green List (high evidence)
CFHR1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
Green Green List (high evidence)
CFHR2
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
Green Green List (high evidence)
CFHR3
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
Green Green List (high evidence)
CFHR4
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
Green Green List (high evidence)
CFHR5
4 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Atypical hemolytic-uremic syndrome with anti-factor H antibodies
  • Atypical hemolytic uremic syndrome susceptibility
  • Nephropathy due to CFHR5 deficiency, 614809
  • Complement Deficiencies
  • Older onset atypical hemolytic-uremic syndrome, disseminated neisserial infections
Tags
Green Green List (high evidence)
CFI
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • Inherited complement deficiency v0.11
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • {Macular degeneration, age-related, 13, susceptibility to}, 615439
  • Complement factor I deficiency
  • Factor I deficiency
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  • Infections, disseminated neisserial infections, atypical Hemolytic-uremic syndrome, preeclampsia
  • Complement Deficiencies
  • Immunodeficiency with factor I anomaly
  • C3b inactivator deficiency
  • Complement factor I deficiency, 610984
Tags
Green Green List (high evidence)
CFP
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Neisserial infections
  • Complement Deficiencies
  • Properdin deficiency
  • Properdin P factor complement deficiency (PFC)
Tags
Green Green List (high evidence)
CFTR
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Congenital defects of phagocyte number or function
  • Cystic fibrosis, 219700
  • Respiratory infections, pancreatic insufficiency, elevated sweat chloride
Tags
Green Green List (high evidence)
CHD7
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • CHARGE syndrome, 214800
  • Coloboma, heart anomaly, choanal atresia, intellectual disability, genital and ear anomalies, CNS malformation, some are SCID-like and have low TRECs
  • Immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
  • COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES
  • Charge syndrome
Tags
Green Green List (high evidence)
CIB1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • OMIM
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • Defects in intrinsic and innate immunity
  • CIB1 deficiency
Tags
Green Green List (high evidence)
CIITA
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HLA class II deficiency
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Bare lymphocyte syndrome, type II, complementation group A
Tags
Green Green List (high evidence)
CLCN7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with hypocalcemia, neurologic features
Tags
Green Green List (high evidence)
CLPB
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR
  • Congenital defects of phagocyte number or function
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
  • 3-methylglutaconic aciduria, type VII
  • 3-methylglutaconic aciduria, type 7
  • Recurrent or severe infection
Tags
Green Green List (high evidence)
COPA
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune interstitial lung disease-arthritis syndrome
  • Autoimmune inflammatory arthritis and interstitial lung disease with Th17 dysregulation and autoantibody production
  • Autoinflammatory Disorders
  • Autoimmune inflammatoy arthritis and interstial lung disease, 616414
  • COPA syndrome
Tags
Green Green List (high evidence)
CORO1A
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 8
  • hypogammaglobulinaemia, combined immunodeficiency
  • Coronin-1A deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Detectable thymus, EBV
  • Immunodeficiencies affecting cellular and humoral immunity
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
Tags
Green Green List (high evidence)
CR2
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent infections
  • Lupus
  • Isolated IgG subclass deficiency
  • Immunodeficiency, common variable, 7
  • Common variable immunodeficiency disorders (CVID)
  • hypogammaglobulinaemia
  • Predominantly Antibody Deficiencies
  • Immunodeficiency, common variable, 7, 614699
Tags
Green Green List (high evidence)
CSF2RA
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital pulmonary alveolar proteinosis
  • Alveolar proteinosis
  • Congenital defects of phagocyte number or function
  • Pulmonary alveolar proteinosis
  • hypersensitivity
  • Surfactant metabolism dysfunction, pulmonary 4, 300770
Tags
Green Green List (high evidence)
CSF2RB
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Surfactant metabolism dysfunction, pulmonary, 5, 614370
  • Congenital defects of phagocyte number or function
  • Alveolar proteinosis
Tags
Green Green List (high evidence)
CSF3R
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital neutropenia
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 7
  • N/A
  • Neutropenia, severe congenital, 7, autosomal recessive, 617014
Tags
Green Green List (high evidence)
CTC1
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Bone marrow failure
  • 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
  • Cerebroretinal microangiopathy with calcifications and cysts, 612199
Tags
Green Green List (high evidence)
CTLA4
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type V
  • interstitual lung disease
  • autoimmunity
  • lymphadenopathy
  • T cell lymphopenia
  • Combined immunodeficiency
  • 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
  • Diseases of Immune Dysregulation
  • Early-onset multi-organ autoimmune disease
  • Autoimmune lymphoproliferative syndrome, type V 616100
  • hypogammaglobulinaemia
  • enteropathy
  • Autoimmune cytopenias, enteropathy, interstitial lung disease, extra-lymphoid lymphocytic infiltration recurrent infections
  • CVID
Tags
Green Green List (high evidence)
CTPS1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent/chronic bacterial and viral infections (EBV, VZV), EBV lymphoproliferation, B-cell non-Hodgkin lymphoma
  • Severe combined immunodeficiency due to CTPS1 deficiency
  • Immunodeficiency 24, 615897
  • Patients develop Epstein-Barr Virus (EBV) driven Hemophagocytic Lymphohistiocytosis (HLH )
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
CTSC
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe periodontitis
  • Periodontitis, palmoplantar hyperkeratosis in some patients
  • Congenital defects of phagocyte number or function
  • Haim-Munk syndrome, 245010
  • palmoplantar keratoderma
  • Papillon-Lefevre syndrome, 245000
Tags
Green Green List (high evidence)
CXCL8
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
CXCR4
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Myelokathexis, isolated
  • Warts hypogammaglobulinemia infections and myelokathexis (WHIM)
  • WHIM syndrome, 193670
  • WHIM syndrome
  • Warts (HPV) infection, neutropenia, low B cell number, hypogammaglobulinemia
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
CYBA
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease (CGD)
  • Congenital defects of phagocyte number or function
  • Infections, autoinflammatory phenotype
  • Chronic granulomatous disease, autosomal, due to deficiency of CYBA,233690
Tags
Green Green List (high evidence)
CYBB
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Congenital defects of phagocyte number or function
  • Immunodeficiency 34, mycobacteriosis, X-linked, 300645
  • Chronic granulomatous disease (CGD)
  • Isolated susceptibility to mycobacteria
  • Infections, autoinflammatory phenotype, IBD, McLeod phenotype in patients with deletions extending into the contiguous Kell locus
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
DAG1
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
DBR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • DBR1 deficiency
  • Defects in intrinsic and innate immunity
  • HSE of the brainstem. Other viral infections of the brainstem
Tags
Green Green List (high evidence)
DCLRE1B
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
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
  • Hoyeraal-Hreidarsson syndrome
Tags
Green Green List (high evidence)
DCLRE1C
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, 602450
  • Severe combined immunodeficiency, Athabascan type
  • DCLRE1C (Artemis) deficiency
  • Combined immunodeficiency
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • Nl NK, radiation sensitive
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID
Tags
Green Green List (high evidence)
DEF6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • DEF6 deficiency
  • Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
DICER1
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
DKC1
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita, X-linked 305000
  • Severe phenotype with DD and cerebellar hypoplasia
  • Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Combined immunodeficiencies with associated or syndromic features
  • 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
Tags
Green Green List (high evidence)
DNAJC21
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Bone marrow failure syndrome 3, 617052
  • Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure
  • Shwachman-Diamond syndrome-like
  • Congenital defects of phagocyte number or function
Tags
Green Green List (high evidence)
DNASE1L3
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Systemic lupus erythematosus 16, 614420
  • Autoinflammatory Disorders
  • Diseases of Immune Dysregulation
  • familial early-onset SLE
  • Systemic lupus erythematosus, lupus nephritis, hypocomplementemic urticarial vasculitis
Tags
Green Green List (high evidence)
DNASE2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • liver fibrosis
  • multisystem autoinflammatory syndrome
  • SLE
  • severe neonatal anemia
  • Autoinflammatory Disorders
  • deforming arthropathy
  • Glomerulonephritis, arthropathy, vasculitis
  • membranoproliferative glomerulonephritis
Tags
Green Green List (high evidence)
DNMT3B
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Facial dysmorphic features, developmental delay, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860
  • Immunodeficiency centromeric instability facial anomalies syndrome (ICF)
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 1
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
DOCK2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Dock 2 deficiency, Immunodeficiency 40
  • Immunodeficiencies affecting cellular and humoral immunity
  • Immunodeficiency 40, 616433
  • Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells
Tags
Green Green List (high evidence)
DOCK8
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Hyper-IgE recurrent infection syndrome, autosomal recessive
  • Hyper IgE syndrome (HIES)
  • Immunodeficiencies affecting cellular and humoral immunity
  • Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis
  • Hyper-IgE recurrent infection syndrome
  • impaired T cell function, Atopy, cutaneous viral infections
Tags
Green Green List (high evidence)
EFL1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Congenital neutropenias
  • Congenital defects of phagocyte number or function
  • Shwachman-Diamond Syndrome, 617941
Tags
Green Green List (high evidence)
EGFR
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
ELANE
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital neutropenia
  • Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia
  • Neutropenia, cyclic, 162800
  • Cyclic neutropenia
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 1
  • Neutropenia, severe congenital 1, autosomal dominant, 202700
Tags
Green Green List (high evidence)
EPG5
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Vici syndrome
  • Vici syndrome due to EPG5 deficiency
  • Vici syndrome, 242840
  • Agenesis of the corpus callosum, cataracts, cardiomyopathy, skin hypopigmentation, intellectual disability, microcephaly, recurrent infections, chronic mucocutaneous candidiasis
  • Immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
  • syndromic phenotype (immunodeficiency variable)
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
ERBIN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • ERBIN deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some
Tags
Green Green List (high evidence)
ERCC4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
  • Bone marrow failure
  • Fanconi Anemia Type Q
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
Tags
Green Green List (high evidence)
ERCC6L2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Bone marrow failure syndrome 2, 615715
  • Combined immunodeficiencies with associated or syndromic features
  • Facial dysmorphism, microcephaly, bone marrow failure
Tags
Green Green List (high evidence)
EXTL3
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • EXTL3 deficiency
  • Platyspondyly, kyphosis, variable skeletal dysplasias, developmental delay
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425
Tags
Green Green List (high evidence)
F12
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • GRID V2.0
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • hereditary angioedema
  • Angioedema, Hereditary, Type III
Tags
Green Green List (high evidence)
FAAP24
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • EBV infection-driven lymphoproliferative disease
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
FADD
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • para-infectious encephalopathy and hepatopathy
  • Functional hyposplenism, bacterial and viral infections, recurrent episodes of encephalopathy and liver dysfunction
  • Diseases of Immune Dysregulation
  • invasive pneumococcal disease
  • cardiovascular malformations
  • Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759
  • functional hyposplenism
  • ALPS-like disease
Tags
Green Green List (high evidence)
FANCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group A, 227650
Tags
Green Green List (high evidence)
FANCB
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
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group B, 300514
Tags
Green Green List (high evidence)
FANCC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group C, 227645
Tags
Green Green List (high evidence)
FANCD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group D2, 227646
Tags
Green Green List (high evidence)
FANCE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group E, 600901
Tags
Green Green List (high evidence)
FANCF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Fanconi anemia, complementation group F, 603467
  • Fanconi Anemia Type F
  • Bone marrow failure
Tags
Green Green List (high evidence)
FANCG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group G, 614082
Tags
Green Green List (high evidence)
FANCI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group I, 609053
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Fanconi Anemia Type I
  • Bone marrow failure
Tags
Green Green List (high evidence)
FANCL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group L, 614083
Tags
Green Green List (high evidence)
FANCM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Bone marrow failure
  • Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage
  • Fanconi Anemia Type M
Tags
Green Green List (high evidence)
FAS
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
  • Autoimmune lymphoproliferative syndrome, type IA (ALPS-FAS)
  • Autoimmune lymphoproliferative syndrome type IA, 601859
  • Autoimmune lymphoproliferative syndrome (ALPS)
Tags
Green Green List (high evidence)
FASLG
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IB, 601859
  • Diseases of Immune Dysregulation
  • Autoimmune lymphoproliferative syndrome, type IB (ALPS-FASG)
  • Splenomegaly, adenopathies, autoimmune cytopenias, SLE, soluble FasL is not elevated
  • Autoimmune lymphoproliferative syndrome (ALPS)
Tags
Green Green List (high evidence)
FAT4
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features
  • Combined immunodeficiencies with associated or syndromic features
  • Hennekam lymphangiectasia-lymphedema syndrome 2, 616006
Tags
Green Green List (high evidence)
FCGR2A
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • Literature
Phenotypes
  • Fc receptor deficiencies
  • Severity of severe acute respiratory syndrome (SARS)-Cov infection
Tags
  • polygenic
  • watchlist
Green Green List (high evidence)
FCGR3A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Amber
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV)
  • CD16 deficiency
  • predisposition to severe viral infection
  • Immunodeficiency 20, 615707
  • Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
  • Defects in Intrinsic and Innate Immunity
  • Fc receptor deficiencies
Tags
Green Green List (high evidence)
FCHO1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, lymphoproliferation, increased activation-induced T-cell death, defective clathrin-mediated endocytosis
  • FCHO1 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
FCN3
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Respiratory infections, abscesses
  • Complement Deficiencies
  • Ficolin3 deficiency
  • Immunodeficiency due to ficolin 3 deficiency, 613860
Tags
Green Green List (high evidence)
FERMT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • FERMT1 deficiency (Kindler syndrome)
  • Kindler syndrome, 173650
  • Diseases of Immune Dysregulation
  • Dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling
Tags
Green Green List (high evidence)
FERMT3
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • LAD type 1 plus bleeding tendency
  • LAD
  • Congenital defects of phagocyte number or function
  • Leukocyte adhesion deficiency, type III, 612840
Tags
Green Green List (high evidence)
FOXN1
7 reviews
4 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2024
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Nude severe combined immunodeficiency
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • T-B+ SCID
  • Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect
  • T-B+ SCID, congenital alopecia, nail dystrophy, 601705
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
FOXP3
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • FOXP3 deficiency (IPEX)
  • Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome
  • Diseases of Immune Dysregulation
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
  • IPEX
  • Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA
Tags
Green Green List (high evidence)
FPR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodontitis only
  • Congenital defects of phagocyte number or function
  • Periodontitis
  • Localized juvenile peridontitis
Tags
Green Green List (high evidence)
FPR2
4 reviews
1 green 1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Localized juvenile peridontitis
Tags
Green Green List (high evidence)
G6PC3
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Structural heart defects, urogenital abnormalities, inner ear deafness, and venous angiectasias of trunks and limbs
  • Congenital neutropenia
  • Dursun syndrome, 612541
  • Severe Congenital Neutropenia
  • Neutropenia, severe congenital 4, autosomal recessive, 612541
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital 4
Tags
Green Green List (high evidence)
G6PD
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Infections
  • haemolytic anaemia
  • Congenital defects of phagocyte number or function
  • Susceptibility to viral infection
  • chronic granulomatous disease-like susceptibility to infection
  • Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Tags
Green Green List (high evidence)
GATA1
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Congenital neutropaenia v1.22
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • neutropenia
  • dyserythropoietic anaemia
  • thrombocytopenia
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835
Tags
Green Green List (high evidence)
GATA2
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to mycobacteria, HPV, histoplasmosis, alveolar proteinosis, MDS/AML/CMMoL, lymphedema
  • Congenital neutropenia
  • Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
  • Immunodeficiency 21,614172
  • Congenital defects of phagocyte number or function
  • Monocytopenia and mycobacterial infection (MonoMAC)
  • Monocytopenia with susceptibility to infections
Tags
Green Green List (high evidence)
GFI1
6 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropenia, severe congenital 2
  • Congenital neutropenia
  • Severe congenital 2, autosomal dominant, 613107
  • Congenital defects of phagocyte number or function
  • Neutropenia, nonimmune chronic idiopathic, of adults, 607847
  • Severe congenital neutropenia
  • B/T lymphopenia
  • Chronic non-immune neutropenia of adults
Tags
Green Green List (high evidence)
GINS1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Immunodeficiency 55, 617827
  • NK cell deficiency
  • chronic neutropenia
  • Neutropenia, IUGR, NK cells very low
  • GINS1 deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • intrauterine growth retardation
Tags
Green Green List (high evidence)
HAVCR1
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
HAVCR2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Tim-3 deficiency
  • T-cell lymphoma, subcutaneous panniculitis-like, HLH
  • T-cell lymphoma, subcutaneous panniculitis-like, 618398
  • Autoinflammatory Disorders
Tags
Green Green List (high evidence)
HAX1
8 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Agranulocytosis v1.3
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital neutropenia
  • Cognitive and neurological defects in patients with defects in both HAX1 isoforms, susceptibility to MDS/leukemia
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
  • Congenital defects of phagocyte number or function
  • Severe congenital neutropenia
  • Neutropenia, severe congenital 3
Tags
Green Green List (high evidence)
HDAC6
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
HELLS
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • ICF
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911
  • ICF4
  • Combined immunodeficiencies with associated or syndromic features
  • Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16
  • Immunodeficiency-centromeric instability-facial anomalies syndrome
Tags
Green Green List (high evidence)
HLA-B
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
  • Susceptibility to SARS-CoV
Tags
Green Green List (high evidence)
HLA-DRB1
3 reviews
2 green
Unknown
Sources
  • Expert Review Green
  • Literature
Tags
Green Green List (high evidence)
HMOX1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • amyloidosis
  • Hemolysis, nephritis, inflammation
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
HPS1
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • inflammatory bowel disease
  • oculocutaneous albinism
  • Hermansky-Pudlak syndrome 1
  • bleeding
  • pulmonary fibrosis
Tags
Green Green List (high evidence)
HPS4
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Hermansky-Pudlak syndrome 4, 614073
Tags
Green Green List (high evidence)
HPS6
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Hermansky-Pudlak syndrome 6, 614075
Tags
Green Green List (high evidence)
HTRA2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • 3-methylglutaconic aciduria, type VIII, 617248
  • early onset neurological syndrome
  • neutropenia
Tags
Green Green List (high evidence)
HYOU1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Hypoglycemia, inflammatory complications
  • Congenital defects of phagocyte number or function
Tags
Green Green List (high evidence)
ICOS
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • combined immunodeficiency
  • Isolated IgG subclass deficiency
  • gammaglobulinaemia
  • Immunodeficiency, common variable, 1, 607594
  • Immunodeficiencies affecting cellular and humoral immunity
  • Common variable immunodeficiency disorders (CVID)
  • hypogammaglobulinaemia
  • Immunodeficiency, common variable, 1
  • Recurrent infections, autoimmunity, gastroenteritis, granulomas
Tags
Green Green List (high evidence)
ICOSLG
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent bacterial and viral infections
Tags
Green Green List (high evidence)
IFIH1
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Rhinovirus and other RNA viruses (AR)
  • Classical AGS, SLE, SP, SMS
  • Autoinflammatory Disorders
  • Aicardi-Goutieres syndrome 7 (AD)
  • susceptibility to RNA viruses
  • Recurrent and prolonged infections
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IFITM3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • OMIM
Phenotypes
  • {Influenza, severe, susceptibility to}, 614680
Tags
Green Green List (high evidence)
IFNA1
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
IFNAR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • IFNAR1 associated adverse reactions to certain live attenuated viral vaccines
Tags
Green Green List (high evidence)
IFNAR2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • ?Immunodeficiency 45, 616669
  • Severe viral infections (disseminated vaccine-strain measles, HHV6)
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IFNE
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
IFNGR1
4 reviews
4 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 27A, (AR) 209950
  • Susceptibility to mycobacteria and Salmonella
  • Mycobacteriosis
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
  • Immunodeficiency 27B, (AD) 615978
Tags
Green Green List (high evidence)
IFNGR2
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Immunodeficiency 28, Mycobacteriosis, 614889
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IGHM
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Agammaglobulinemia 1
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Predominantly Antibody Deficiencies
  • Agammaglobulinemia 1, 601495
Tags
Green Green List (high evidence)
IGKC
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Immunoglobulin chain deficiencies
  • Kappa light chain deficiency, 614102
  • Asymptomatic
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
IGLL1
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia
  • Severe bacterial infections, normal numbers of pro-B cells
  • Agammaglobulinemia 2, 613500
  • Agammaglobulinemia 2
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
IKBKB
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 15, 615592
  • Immunodeficiencies affecting cellular and humoral immunity
  • Combined immunodeficiency
  • Recurrent bacterial, viral, fungal infections, opportunistic infections
Tags
Green Green List (high evidence)
IKBKG
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • Immunodeficiency 33, 300636
  • 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
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency 300291
  • Combined immunodeficiencies with associated or syndromic features
  • Immunodeficiency, isolated, 300584
Tags
Green Green List (high evidence)
IKZF1
7 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 13, 616873
  • IKAROS deficiency
  • Immunodeficiency, common variable 13
  • Predominantly Antibody Deficiencies
  • Recurrent sinopulmonary infections
Tags
Green Green List (high evidence)
IL10
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
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
Tags
Green Green List (high evidence)
IL10RA
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • IBD, Folliculitis, recurrent respiratory diseases, arthritis, lymphoma
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • Diseases of Immune Dysregulation
  • Inflammatory bowel disease 28, early onset, autosomal recessive, 613148
Tags
Green Green List (high evidence)
IL10RB
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Inflammatory bowel disease 25, early onset, autosomal recessive,612567
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
  • Diseases of Immune Dysregulation
  • IBD, folliculitis, recurrent respiratory diseases, arthritis, lymphoma
Tags
Green Green List (high evidence)
IL12B
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
  • Immunodeficiency 29, mycobacteriosis, 614890
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IL12RB1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Susceptibility to mycobacteria and Salmonella
  • Immunodeficiency 30, 614891
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IL12RB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Defects in intrinsic and innate immunity
  • Mendelian susceptibility to mycobacterial disease
  • IL-12Rb2 deficiency
Tags
Green Green List (high evidence)
IL17A
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Arthritis
  • Immunodeficiency 5
  • Susceptibility to influenza
Tags
Green Green List (high evidence)
IL17F
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • CMC, folliculitis
  • Candidiasis, familial, 6, 613956
  • Defects in Intrinsic and Innate Immunity
  • Chronic mucocutaneous candidiasis (CMC)
Tags
Green Green List (high evidence)
IL17RA
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 5
  • Chronic mucocutaneous candidiasis (CMC)
  • Immunodeficiency 51, 613953
  • CMC, folliculitis
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IL17RC
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 9 616445
  • Chronic Mucocutaneous Candidiasis
  • CMC
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IL18BP
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Defects in intrinsic and innate immunity
  • IL-18BP deficiency
  • inborn errors of immunity related to leukocytes
Tags
Green Green List (high evidence)
IL1RN
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • DIRA
  • Interleukin 1 receptor antagonist deficiency 612852
  • Autoinflammatory Disorders
  • sterile multifocal osteomyelitis, periostitis, and pustulosis
  • Neonatal onset of sterile multifocal osteomyelitis, periostitis and pustulosis.
Tags
Green Green List (high evidence)
IL21
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 11, 615767
  • Severe early onset colitis, recurrent sinopulmonary infections
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
IL21R
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiency 56, 615207
  • Immunodeficiencies affecting cellular and humoral immunity
  • Omenn syndrome
  • Immunodeficiency, primary, autosomal recessive, IL21R-related
  • IL-21R deficiency
  • Severe combined immunodeficiency (SCID)
  • Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease
Tags
Green Green List (high evidence)
IL23R
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Defects in intrinsic and innate immunity
  • Mendelian susceptibility to mycobacterial disease
  • IL-23R deficiency
Tags
Green Green List (high evidence)
IL2RA
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367
  • Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype)
  • Diseases of Immune Dysregulation
  • Interleukin-2 receptor, alpha chain, deficiency of
  • Omenn syndrome
  • Lymphoproliferation, autoimmunity, impaired T cell proliferation
Tags
Green Green List (high evidence)
IL2RB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune hemolytic anemia, dermatitis, enteropathy, recurrent viral (EBV, CMV) infections
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity, 618495
  • CD122 deficiency
Tags
Green Green List (high evidence)
IL2RG
7 reviews
6 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, X-linked
  • Combined immunodeficiency, X-linked, moderate
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • SCID
  • Severe combined immunodeficiency, X-linked, 300400
  • T-B+ SCID
  • SCID (x-linked)
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Low NK
Tags
Green Green List (high evidence)
IL36RN
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Psoriasis 14, generalized pustular 614204
  • Autoinflammatory Disorders
  • Pustular psoriasis
Tags
Green Green List (high evidence)
IL6
2 reviews
2 green
Not set
Sources
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
IL6R
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Eczema
  • Recurrent infections
  • Recurrent pyogenic infections, cold abscesses, high circulating IL-6 levels
  • Hyper-IgE
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
IL6ST
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Eczema
  • Abnormal acute-phase responses
  • Recurrent infections
  • Bacterial infections, boiles, eczema, pulmonary abscesses, pneumatoceles, bone fractures, scoliosis, retention of primary teeth, craniosynostosis
  • Eosinophilia
  • Elevated IgE
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
IL7R
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive
  • Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
  • Nl NK
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • IL7Ra deficiency
Tags
Green Green List (high evidence)
INO80
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • severe bacterial infections
  • Severe bacterial infections
  • Predominantly Antibody Deficiencies
  • INO80 deficiency, HIGM
Tags
Green Green List (high evidence)
IRAK1
2 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
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
Tags
Green Green List (high evidence)
IRAK4
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects of TLR/NFkappa-B signalling
  • Invasive pneumococcal disease, recurrent isolated, 1, 6107
  • IRAK4 deficiency, 610799
  • Defects in Intrinsic and Innate Immunity
  • Bacterial infections (pyogens)
Tags
Green Green List (high evidence)
IRF1
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
IRF2
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
IRF2BP2
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, possible autoimmunity and inflammatory disease
  • Predominantly Antibody Deficiencies
  • CVID
  • Immunodeficiency, common variable, 14, MIM# 617765
Tags
Green Green List (high evidence)
IRF3
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM616532
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IRF4
2 reviews
2 green
Not set
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Defects in intrinsic and innate immunity
  • IRF4 haploinsufficiency
  • inborn errors of immunity related to leukocytes
Tags
Green Green List (high evidence)
IRF7
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Literature
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe influenza
  • ?Immunodeficiency 39, 616345
  • Severe influenza disease
  • IRF7 deficiency
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IRF8
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 226990
  • Susceptibility to mycobacteria and multiple other infectious agents
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria
  • familial NK cell deficiency
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
IRF9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 65, susceptibility to viral infections, 618648
Tags
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
  • diaphragmatic hernia
  • facial dysmorphic features, high frequency of cardiac defects, including conotruncal defects, prematurity, growth restriction, microcephaly, and mild developmental delay
  • 192430
  • 188400
  • 22q11.2 deletion syndrome
  • renal anomalies
  • cleft palate, polydactyly
  • congenital heart disease
  • Learning difficulties
  • Velocardiofacial syndrome
  • polyhydramnios
  • DiGeorge syndrome
  • immune deficiency
Tags
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
  • clefting
  • Velocardiofacial syndrome
  • 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
  • cardiac malformations
  • Hearing deficits
  • DiGeorge syndrome
  • micrognathia
Tags
Green Green List (high evidence)
ISG15
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 38, 616126
  • idiopathic basal ganglia calcification
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Susceptibility to mycobacteria, brain calcifications
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
ITCH
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
  • Autoimmune disease, multisystem, with facial dysmorphism, 613385
  • Syndromic multisystem autoimmune disease due to Itch deficiency
  • Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED)
Tags
Green Green List (high evidence)
ITGAV
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
ITGB2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Delayed cord separation, skin ulcers, periodontitis, leukocytosis
  • Leukocyte adhesion deficiency type I
  • Congenital defects of phagocyte number or function
  • LAD
  • Leukocyte adhesion deficiency, 116920
Tags
Green Green List (high evidence)
ITGB3
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
ITK
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • EBV associated B cell lymphoproliferation, lymphoma, Nl or low IgG
  • Combined immunodeficiency
  • Diseases of Immune Dysregulation
  • ITK deficiency (HLH phenotype)
  • EBV viraemia, HLH
  • Lymphoproliferative syndrome 1
Tags
Green Green List (high evidence)
ITPKC
1 review
Unknown
Sources
  • Expert Review Green
  • Literature
  • Research
Phenotypes
  • Kawasaki disease, susceptibility to, 611775
Tags
Green Green List (high evidence)
JAGN1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital neutropenia
  • Myeloid maturation arrest, osteopenia
  • Congenital defects of phagocyte number or function
  • Neutropenia, severe congenital
  • Neutropenia, severe congenital, 6, autosomal recessive,616022
  • severe congenital neutropenia
Tags
Green Green List (high evidence)
JAK1
3 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2025
  • IUIS Classification February 2018
Phenotypes
  • Hypereosinophilic syndrome
  • HSM, 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
  • HSM, eosinophilia, eosinophilic enteritis, thyroid disease, poor growth, viral infections
Tags
Green Green List (high evidence)
JAK3
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • JAK3 deficiency
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • Low NK
Tags
Green Green List (high 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 Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Kabuki Syndrome 2 due to KDM6A deficiency
  • 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
Tags
Green Green List (high evidence)
KIAA0319L
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
KLF2
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
KMT2A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Wiedemann-Steiner syndrome with Congenital immunodeficiency
  • Unclassified antibody deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Respiratory infections, short stature, hypertelorism, hairy elbows, developmental delay, intellectual disability
Tags
Green Green List (high evidence)
KMT2D
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Kabuki syndrome 1, 147920
  • Combined immunodeficiencies with associated or syndromic features
  • 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
Tags
Green Green List (high evidence)
LAMTOR2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Neutropenia, Hypogammaglobulinemia CD8 cytotoxicity, partial albinism, growth failure
  • Congenital neutropenia
  • Congenital defects of phagocyte number or function
  • Primary immunodeficiency syndrome due to p14 deficiency
  • Immunodeficiency due to defect in MAPBP-interacting protein, 610798
Tags
Green Green List (high evidence)
LAT
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Immunodeficiency 52, 617514
  • Adenopathy, splenomegaly, recurrent infections, autoimmunity
Tags
Green Green List (high evidence)
LCK
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to LCK deficiency
  • Recurrent infections, immune dysregulation, autoimmunity
  • Combined immunodeficiency
  • Immunodeficiency 22, 615758
  • Immunodeficiencies affecting cellular and humoral immunity
  • LCK deficiency
Tags
Green Green List (high evidence)
LIG1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Literature
  • Other
Phenotypes
  • DNA ligase I deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • DNA-ligase 1 ATP-dependent deficiency (LIG1)
  • Recurrent respiratory infections, growth retardation, sun sensitivity, lymphoma, radiation sensitivity
Tags
Green Green List (high evidence)
LIG4
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • LIG4 syndrome
  • DNA ligase IV deficiency
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID
  • LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
  • Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
Tags
Green Green List (high evidence)
LPIN2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders
  • Autoinflammatory Disorders
  • Majeed syndrome 609628
Tags
Green Green List (high evidence)
LRBA
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Unclassified antibody deficiency
  • Recurrent infections, inflammatory bowel disease, autoimmunity, EBV infections
  • Diseases of Immune Dysregulation
  • Immunodeficiency, common variable, 8, with autoimmunity, 614700
Tags
Green Green List (high evidence)
LYST
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • 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
Green Green List (high evidence)
MAD2L2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • ?Fanconi anemia, complementation group V, 617243
Tags
Green Green List (high evidence)
MAGT1
6 reviews
5 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
  • Combined immunodeficiency
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
  • Immunodeficiency, X-linked, with magnesium defect
  • Diseases of Immune Dysregulation
  • Epstein-Barr virus infection and neoplasia (XMEN)
  • EBV infection, lymphoma, viral infections, respiratory and GI infections
  • XMEN syndrome
Tags
Green Green List (high evidence)
MALT1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Bacterial, fungal and viral infections
  • Immunodeficiency 12 615468
  • Immunodeficiencies affecting cellular and humoral immunity
  • Combined immunodeficiency
Tags
Green Green List (high evidence)
MAP3K14
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Low NK number and function, recurrent bacterial, viral and Cryptosporidium infections
  • Recessive Atypical Combined Immunodeficiency
  • Primary Immunodeficiency with Multifaceted Aberrant Lymphoid Immunity
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
MASP2
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • MASP2 deficiency 613791
  • Mannan-binding lectin serine protease (MASP) deficiency
  • Complement Deficiencies
  • Not associated with SARS-CoV susceptibility
  • Pyogenic infections, inflammatory lung disease, autoimmunity
Tags
Green Green List (high evidence)
MCM4
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Predisposition to several viral infection
  • Immunodeficiency 54, 609981
  • MCM4 deficiency
  • NK cells: low number and function. Viral infections (EBV, HSV, VZV), short stature, B cell lymphoma, adrenal failure
  • Natural killer cell and glucocorticoid deficiency with DNA repair defect
Tags
Green Green List (high evidence)
MEFV
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Familial mediterranean fever defect
  • Recurrent fever, serositis and inflammation responsive to colchicine. Predisoposes to vasculitis and inflammatory bowel disease.
  • Autoinflammatory Disorders
  • Familial Mediterranean fever, AD 134610
  • Familial Mediterranean fever, AR 249100
Tags
Green Green List (high evidence)
MKL1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Susceptibility to severe bacterial infection
  • Mild thrombocytopenia
  • Congenital defects of phagocyte number or function
Tags
Green Green List (high evidence)
MOGS
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Bacterial and viral infections, severe neurologic disease, also known as congenital disorder of glycosylation type IIb (CDG-IIb)
  • Congenital disorder of glycosylation, type IIb 606056
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
MPO
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
Phenotypes
  • Myeloperoxidase deficiency 254600
Tags
Green Green List (high evidence)
MS4A1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent infections
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • Immunodeficiency, common variable, 5 613495
Tags
Green Green List (high evidence)
MSH6
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Colorectal cancer, hereditary nonpolyposis, type 5 614350
  • Endometrial cancer, familial 608089
  • Family or personal history of cancer
  • Predominantly Antibody Deficiencies
  • Mismatch repair cancer syndrome 276300
Tags
Green Green List (high evidence)
MSN
4 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert list
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Combined immunodeficiency
  • Immunodeficiency 50, MIM300988
  • Immunodeficiency 50, 300988
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent infections with bacteria, varicella, neutropenia
Tags
Green Green List (high evidence)
MTHFD1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent bacterial infection, Pneumocystis jirovecii, megaloblastic anemia, failure to thrive, neutropenia, seizures, intellectual disability, folate-responsive
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780
  • Combined immunodeficiencies with associated or syndromic features
  • Defects of Vitamin B12 and Folate metabolism
Tags
Green Green List (high evidence)
MVK
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper-IgD syndrome 260920
  • Autoinflammatory Disorders
  • Hyper IgD syndrome (MVK)
  • Mevalonic aciduria 610377
  • Periodic fever and leukocytosis with high IgD levels
Tags
Green Green List (high evidence)
MYD88
6 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • recurrent pyogenic bacterial infection
  • Defects of TLR/NFkappa-B signalling
  • Defects in Intrinsic and Innate Immunity
  • Bacterial infections (pyogens)
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency 612260
Tags
Green Green List (high evidence)
MYO5B
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Microvillus inclusion disease 251850
Tags
Green Green List (high evidence)
MYSM1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Bone marrow failure
  • immunodeficiency
  • Short stature, recurrent infections, congenital bone marrow failure, myelodysplasia, immunodeficiency affecting B-cells and granulocytes, skeletal anomalies, cataracts, developmental delay.
  • mid-face hypoplasia
  • MYSM1 deficiency
  • neurodevelopmental delay
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
NBAS
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Infantile liver failure syndrome 2, 616483
  • Defects in intrinsic and innate immunity
  • Fever induced liver failure
  • Defects in Intrinsic and Innate Immunity
  • Fever induces liver failure
Tags
Green Green List (high evidence)
NBN
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Nijmegen breakage syndrome (NBS1)
  • Nijmegen breakage syndrome 251260
  • Aplastic anemia 609135
  • Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
NCF1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-1 233700
  • Chronic granulomatous disease (CGD)
  • Congenital defects of phagocyte number or function
  • Infections, autoinflammatory phenotype
Tags
Green Green List (high evidence)
NCF2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease due to deficiency of NCF-2 233710
  • Chronic granulomatous disease (CGD)
  • Congenital defects of phagocyte number or function
  • Infections, autoinflammatory phenotype
Tags
Green Green List (high evidence)
NCF4
6 reviews
5 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Infections, autoinflammatory phenotype
  • Congenital defects of phagocyte number or function
  • ?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III 613960
  • Chronic granulomatous disease (CGD)
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
Tags
Green Green List (high evidence)
NCSTN
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurativa with acne, 142690
  • Defects in intrinsic and innate immunity
  • familial hydradenitis suppurativa
  • Defects in Intrinsic and Innate Immunity
  • Hidradenitis suppurativa with acne
Tags
Green Green List (high evidence)
NFAT5
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • NFAT5 haploinsufficieny
  • IBD, recurrent sinopulmonary infections
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
NFE2L2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Recurrent respiratory and skin infections, growth retardation, , developmental delay
  • NFE2L2 GOF
  • increased expression of stress response genes
  • Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744
  • Combined immunodeficiencies with associated or syndromic features
  • white matter cerebral lesions, increased level of homocysteine
Tags
Green Green List (high evidence)
NFKB1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Unclassified antibody deficiency
  • Recurrent sinopulmonary infections, COPD, EBV proliferation, autoimmune cytopenias, alopecia and autoimmune thyroiditis
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • Immunodeficiency, common variable, 12 616576
Tags
Green Green List (high evidence)
NFKB2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent sinopulmonary infections, alopecia and endorinopathies
  • Immunodeficiency, common variable, 10 615577
  • Unclassified antibody deficiency
  • Hypogammaglobuliaemia
  • central adrenal insufficiency
  • immune dysregulation
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
NFKBIA
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Anhidrotic ectodermal dysplasia, various infections (bacteria, mycobacteria, viruses and fungi), colitis, variable defects of skin, hair and teeth, T cell and monocyte dysfunction
  • Defects of TLR/NFkappa-B signalling
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Tags
Green Green List (high evidence)
NHEJ1
8 reviews
7 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
  • T-B+ SCID
  • Cernunnos/XLF deficiency
  • T-B- SCID
Tags
Green Green List (high evidence)
NHP2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Dyskeratosis congenita, autosomal recessive 2 613987
  • Combined immunodeficiencies with associated or syndromic features
  • 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
Tags
Green Green List (high evidence)
NLRC4
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory Disorders
  • Severe enterocolitis and macrophage activation syndrome
  • Autoinflammation with infantile enterocolitis 616050
  • ?Familial cold autoinflammatory syndrome 4 616115
Tags
Green Green List (high evidence)
NLRP1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Dyskeratosis, autoimmunity and arthritis
  • Palmoplantar carcinoma, corneal scarring
  • Autoinflammation with arthritis and dyskeratosis
  • Autoinflammatory Disorders
Tags
Green Green List (high evidence)
NLRP12
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory Disorders
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure.
  • preterm premature rupture of membranes (PPROM)
  • Familial cold autoinflammatory syndrome 2, 611762
Tags
Green Green List (high evidence)
NLRP3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • CINCA syndrome 607115
  • Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure
  • Neonatal onset rash, chronic meningitis, and arthropathy with fever and inflammation
  • Urticaria, SNHL, amyloidosis
  • Muckle-Wells syndrome 191900
  • Autoinflammatory Disorders
  • Familial cold autoinflammatory syndrome 1 120100
  • Deafness, autosomal dominant 34, with or without inflammation 617772
Tags
Green Green List (high evidence)
NOD2
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Blau syndrome 186580
  • Uveitis, granulomatous synovitis, camptodactyly, rash and cranial neuropathies, 30% develop Crohn colitis
  • Autoinflammatory Disorders
  • Caspase recruitment domain-containing protein 15 deficiency (CARD15)
Tags
Green Green List (high evidence)
NOP10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis congenita 1
  • Dyskeratosis congenita, autosomal recessive 1 224230
  • 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
  • Hoyeraal-Hreidarsson syndrome
Tags
Green Green List (high evidence)
NOS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
NSMCE3
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241
  • Combined immunodeficiencies with associated or syndromic features
  • Severe lung disease (possibly viral), thymic hypoplasia, Chromosomal breakage, radiation sensitivity
Tags
Green Green List (high evidence)
OAS1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • OAS1 GOF
  • Autoinflammatory Disorders
  • Pulmonary alveolar proteinosis, skin rash
Tags
Green Green List (high evidence)
ORAI1
8 reviews
4 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • immunodeficiency, ectodermal dysplasia and myopathy
  • Immunodeficiency 9 612782
  • Autoimmunity, EDA, non-progressive myopathy
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
OSTM1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
  • Osteopetrosis with hypocalcemia, neurologic features
Tags
Green Green List (high evidence)
OTULIN
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammation, panniculitis, and dermatosis syndrome, 617099
  • Fever, diarrhea , dermatitis
  • Autoinflammatory Disorders
Tags
Green Green List (high evidence)
PALB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group N, 610832
Tags
Green Green List (high evidence)
PARN
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371
  • Dyskeratosis congenita, autosomal recessive 6 616353
  • 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
Green Green List (high evidence)
PAX1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Otofaciocervical syndrome 2, 615560
  • Syndromic SCID
Tags
Green Green List (high evidence)
PEPD
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Prolidase deficiency, 170100
  • Autoantibodies common, chronic skin ulcers, eczema, infections
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
PGM3
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 23 615816
  • Combined immunodeficiencies with associated or syndromic features
  • Severe atopy, autoimmunity, bacterial and viral infections, skeletal anomalies dysplasia: short stature, brachydactyly, dysmorphic facial features, and intellectual disability cognitive impairment, hypomyelination
  • Combined immunodeficiency
Tags
Green Green List (high evidence)
PIK3CD
8 reviews
7 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2026
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Activated PI3K-delta syndrome (APDS)
  • Unclassified antibody deficiency
  • decreased or absent pro-B cells, EBV
  • Predominantly Antibody Deficiencies
  • sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia
  • Severe bacterial infections
  • Immunodeficiency 14,615513
Tags
Green Green List (high evidence)
PIK3CG
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immune dysregulation
  • HLH-like
  • childhood-onset antibody defects
  • cytopenias
  • T lymphocytic pneumonitis and colitis
Tags
Green Green List (high evidence)
PIK3R1
8 reviews
7 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia
  • Severe bacterial infections, decreased or absent pro-B cells
  • Combined immunodeficiency
  • Immunodeficiency 36
  • Activated PI3K-delta syndrome (APDS)
  • immunodeficiency with hypogammaglobulinaemia, lymphoproliferation and inflammatory disease (AD)
  • Agammaglobulinemia 7, autosomal recessive, 615214
  • Agammaglobulinemia 7
  • Immunodeficiency 36, 616005
  • Predominantly Antibody Deficiencies
  • SHORT syndrome, 269880
  • Severe bacterial infections, pro-B cells present and low numbers of memory B cells, EBV
Tags
Green Green List (high evidence)
PLCG2
8 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Cold urticaria hypogammaglobulinemia, autoinflammation
  • Familial cold autoinflammatory syndrome 3 614468
  • Familial cold autoinflammatory syndrome 3
  • Autoinflammatory Disorders
  • Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome 614878
Tags
Green Green List (high evidence)
PLEKHM1
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
PMS2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, cafe-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
  • Post-Meiotic Segregation 2 (PMS2) deficiency
  • Mismatch repair cancer syndrome 276300
  • Combined immunodeficiencies with associated or syndromic features
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Recurrent infections, caf-au-lait spots, lymphoma, colorectal carcinoma, brain tumors
Tags
Green Green List (high evidence)
PNP
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • Autoimmune haemolytic anemia, neurological impairment
  • Immunodeficiency due to purine nucleoside phosphorylase deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
POLA1
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
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
Tags
Green Green List (high evidence)
POLD1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
  • Polymerase d 1 deficiency
Tags
Green Green List (high evidence)
POLD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Polymerase d 2 deficiency
  • Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability
Tags
Green Green List (high evidence)
POLE
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent respiratory infections, meningitis, facial dysmorphism, livido, short stature
  • Combined immunodeficiencies with associated or syndromic features
  • FILS syndrome 615139
  • Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)
Tags
Green Green List (high evidence)
POLE2
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism)
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism
Tags
Green Green List (high evidence)
POLR3A
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • IUIS Classification December 2019
  • Victorian Clinical Genetics Services
Phenotypes
  • RNA polymerase III deficiency
  • Severe VZV infection
  • Predisposition to severe viral infection
  • Defects in intrinsic and innate immunity
Tags
Green Green List (high evidence)
POLR3C
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • IUIS Classification December 2019
  • Victorian Clinical Genetics Services
Phenotypes
  • RNA polymerase III deficiency
  • Severe VZV infection
  • Predisposition to severe viral infection
  • Defects in intrinsic and innate immunity
Tags
Green Green List (high evidence)
POLR3F
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • IUIS Classification December 2019
  • Victorian Clinical Genetics Services
Phenotypes
  • RNA polymerase III deficiency
  • Severe VZV infection
  • Predisposition to severe viral infection
  • Defects in intrinsic and innate immunity
Tags
Green Green List (high evidence)
POMP
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Proteasome-associated autoinflammatory syndrome 2, 618048
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • combined immunodeficiency with autoinflammation
Tags
Green Green List (high evidence)
PRF1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Fever, HSM, Hemophagocytic lymphohistiocytosis (HLH), cytopenias
  • FHL2
  • HPLH2
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • Diseases of Immune Dysregulation
  • Hemophagocytic lymphohistiocytosis, familial 2, 603553
  • HLH2
Tags
Green Green List (high evidence)
PRKCD
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent infections, EBV chronic infection, lymphoproliferation, SLE-like autoimmunity (nephrotic and antiphospholipid syndromes), low IgG
  • Autoimmune lymphoproliferative syndrome, type III 615559
  • Diseases of Immune Dysregulation
  • Unclassified antibody deficiency
  • Immunodeficiency, common variable, 9
  • Autoimmune lymphoproliferative syndrome (ALPS)
Tags
Green Green List (high evidence)
PRKDC
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities
  • DNA Pkcs deficiency
  • Combined immunodeficiency
  • Immunodeficiency, with or without neurologic abnormalities
  • Nl NK, radiation sensitive, microcephaly
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe combined immunodeficiency (SCID)
Tags
Green Green List (high evidence)
PSEN1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification February 2018
Phenotypes
  • Hidradenitis suppurative with cutaneous hyperpigmentation
  • Acne inversa, familial, 3 613737
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
PSENEN
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Acne inversa, familial, 2, with or without Dowling-Degos disease 613736
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
  • Hidradenitis suppurativa
Tags
Green Green List (high evidence)
PSMB8
6 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2027
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE)
  • Contractures, panniculitis, ICC, fevers
  • Autoinflammatory Disorders
  • Autoinflammation, lipodystrophy, and dermatosis syndrome 256040
  • CANDLE syndrome
Tags
Green Green List (high evidence)
PSMG2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Autoinflammatory Disorders
  • Panniculitis, lipodystrophy, autoimmune hemolytic anemia
  • CANDLE (chronic atypical neutrophilic dermatitis with lipodystrophy)
Tags
Green Green List (high evidence)
PSTPIP1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne 604416
  • Destructive arthritis, inflammatory skin rash, myositis
  • Hyperzincaemia hypercalprotectinaemia
  • Autoinflammatory Disorders
  • Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1)
  • PAPA syndrome
Tags
Green Green List (high evidence)
PTEN
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Recurrent infections, Lymphoproliferation, Autoimmunity
  • Lymphoproliferation, Autoimmunity
  • developmental delay
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
PTPRC
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Nl g/d T cells
  • {Hepatitic C virus, susceptibility to}, 609532
  • CD45 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Omenn syndrome
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
  • Severe combined immunodeficiency (SCID)
Tags
Green Green List (high evidence)
RAB27A
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Diseases of Immune Dysregulation
  • Partial albinism, fever, HSM, HLH, cytopenias
  • Griscelli syndrome, type 2 607624
Tags
Green Green List (high evidence)
RAC2
6 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Reticular dysgenesis
  • poststreptococcal glomerulonephritis
  • Congenital defects of phagocyte number or function
  • Neutrophil immunodeficiency syndrome
  • RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2)
  • T-B+ SCID
  • Neutrophil immunodeficiency syndrome 608203
  • Recurrent sinopulmonary infections, selective IgA defiency
  • urticaria
  • T-B- SCID
  • Poor wound healing, leukocytosis
Tags
Green Green List (high evidence)
RAD51
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • ?Fanconi anemia, complementation group R, 617244
Tags
Green Green List (high evidence)
RAD51C
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group O, 613390
Tags
Green Green List (high evidence)
RAG1
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Nl NK
  • Severe combined immunodeficiency, B cell-negative, 601457
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency, B cell-negative
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID
  • RAG1 deficiency
Tags
Green Green List (high evidence)
RAG2
7 reviews
6 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Nl NK
  • Severe combined immunodeficiency, B cell-negative, 601457
  • Severe Combined Immune Deficiency
  • Atypical Severe Combined Immunodeficiency (Atypical SCID)
  • Immunodeficiencies affecting cellular and humoral immunity
  • T-B+ SCID
  • Severe combined immunodeficiency, B cell-negative
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
  • Omenn syndrome
  • Severe combined immunodeficiency (SCID)
  • T-B- SCID
  • RAG2 deficiency
Tags
Green Green List (high evidence)
RANBP2
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification December 2028
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Fever induces acute encephalopathy
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
RASGRP1
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma
  • Immunodeficiency 64, 618534
  • Diseases of Immune Dysregulation
  • Immunodeficiency
  • EBV-induced lymphoma
  • immunde dysregulation
Tags
Green Green List (high evidence)
RBCK1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • HOIL1 deficiency
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895
  • Bacterial infections, autoinflammation, amylopectinosis
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
RECQL4
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
Phenotypes
  • Rothmund-Thomson syndrome, 268400
  • Combined immunodeficiency
Tags
Green Green List (high evidence)
REL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic infections
  • Immunodeficiencies affecting cellular and humoral immunity
  • c-Rel deficiency
Tags
Green Green List (high evidence)
RELA
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • RelA haplosufficiency
  • Mucosal ulceration, impaired NFkB activation
  • Mucocutaneous ulceration, chronic, 618287
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
RELB
3 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent infectionsImmunodeficiencies affecting cellular and humoral immunity
  • Recurrent infections
  • ?Immunodeficiency 53, 617585
Tags
Green Green List (high evidence)
RFWD3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • ?Fanconi anemia, complementation group W, 617784
Tags
Green Green List (high evidence)
RFX5
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HLA class II deficiency
  • Combined immunodeficiency
  • Bare lymphocyte syndrome (MHC class II deficiency)
  • Bare lymphocyte syndrome, type II, complementation group E
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
  • Bare lymphocyte syndrome, type II, complementation group C
Tags
Green Green List (high evidence)
RFXANK
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HLA class II deficiency
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • MHC class II deficiency, complementation group B
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
Tags
Green Green List (high evidence)
RFXAP
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HLA class II deficiency
  • Combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
  • Bare lymphocyte syndrome, type II, complementation group D
  • Immunodeficiencies affecting cellular and humoral immunity
  • Respiratory and gastrointestinal infections, liver/biliary tract disease
Tags
Green Green List (high evidence)
RHOH
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • T cell deficiency and various infectious diseases
  • Combined immunodeficiency
  • HPV infection, lung granulomas, molluscum contagiosum, lymphoma
  • Epidermodysplasia verruciformis
  • Immunodeficiencies affecting cellular and humoral immunity
  • RhoH deficiency
Tags
Green Green List (high evidence)
RIPK1
6 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Severe immunodeficiency, arthritis, and intestinal inflammation
  • Immunodeficiency 57, 618108
Tags
Green Green List (high evidence)
RMRP
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
  • Cartilage hair hypoplasia
  • Cartilage-hair hypoplasia
  • Anauxetic dysplasia 1, 232220
  • Omenn syndrome
  • Cartilage-hair hypoplasia, with or without immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
RNASEH2A
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory Disorders
  • Classical AGS
  • Aicardi-Goutieres syndrome 4 610333, Lupus
  • Type 1 interferonopathies
Tags
Green Green List (high evidence)
RNASEH2B
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 2 610181
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Classical AGS, SP
Tags
Green Green List (high evidence)
RNASEH2C
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 3 610329
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Classical AGS
Tags
Green Green List (high evidence)
RNASEL
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
RNF168
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • RNF168 deficiency
  • Short stature, mild defect of motor control to ataxia, normal intelligence to learning difficulties, mild facial dysmorphism to microcephaly, increased radiosensitivity
  • RIDDLE syndrome 611943
Tags
Green Green List (high evidence)
RNF31
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency
  • Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
  • autoinflammation and combined immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia
Tags
Green Green List (high evidence)
RNU4ATAC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • 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
  • Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature
Tags
Green Green List (high evidence)
RORC
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 42 616622
  • Susceptibility to mycobacteria and candida
  • Defects in Intrinsic and Innate Immunity
  • Susceptibility to candidasis & Mycobacterial infection
Tags
Green Green List (high evidence)
RPSA
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Isolated congential asplenia 271400
  • Bacteremia (encapsulated bacteria)
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
RTEL1
5 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 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
  • Dyskeratosis congenita, 5 615190
Tags
Green Green List (high evidence)
SAMD9
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • IUGR with gonadal abnormalities, adrenal failure, MDS with chromosome 7 aberrations, predisposition to infections, enteropathy, absent spleen
  • MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy)
  • ataxia-thrombocytopenia syndrome
  • Bone marrow failure
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
SAMD9L
4 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction
  • MDS, neurological features
  • Combined immunodeficiencies with associated or syndromic features
  • Bone marrow failure
Tags
Green Green List (high evidence)
SAMHD1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Classical AGS, FCL
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Aicardi-Goutieres syndrome 5 612952
Tags
Green Green List (high evidence)
SBDS
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman-Diamond-syndrome
  • Shwachman-Diamond syndrome, 260400
  • Congenital defects of phagocyte number or function
  • Pancytopenia, exocrine pancreatic insufficiency, chondrodysplasia
Tags
Green Green List (high evidence)
SEC61A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Severe recurrent respiratory tract infections
  • SEC61A1 deficiency
  • Hyperuricemic nephropathy, familial juvenile, 4, 617056
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
SEMA3E
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • 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
  • Charge syndrome 214800
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
SERPING1
5 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Angioedema, hereditary, types I and II 106100
  • Complement component 4, partial deficiency of 120790
  • Complement Deficiencies
  • Hereditary Angioedema (C1inh)
  • Hereditary angioedema
Tags
Green Green List (high evidence)
SGPL1
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • drenal insufficiency
  • focal segmental glomerulosclerosis
  • steroid-resistant nephrotic syndrome
  • Nephrotic syndrome 14, 617575
  • lymphopenia
Tags
Green Green List (high evidence)
SH2D1A
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells
  • Lymphoproliferative syndrome, X-linked, 1 308240
  • Diseases of Immune Dysregulation
  • X-linked lymphoproliferative syndrome (XLP)
  • Lymphoproliferative syndrome, X-linked, 1 (XLP1)
Tags
Green Green List (high evidence)
SH3KBP1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Severe bacterial infections
  • SH3KBP1 (CIN85) deficiency
  • Predominantly Antibody Deficiencies
  • Immunodeficiency 61, 300310
Tags
Green Green List (high evidence)
SKIV2L
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Trichohepatoenteric syndrome 2,614602
  • Immune dysfunction
  • Trichohepatoenteric syndrome
Tags
Green Green List (high evidence)
SLC29A3
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome
  • Autoinflammatory Disorders
  • Histiocytosis-lymphadenopathy plus syndrome 602782
Tags
Green Green List (high evidence)
SLC35C1
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Mild LAD type 1 features with hh-blood group, growth retardation, developmental delay
  • Congenital defects of phagocyte number or function
  • Leukocyte adhesion deficiency (LAD)
  • Congenital disorder of glycosylation, type IIc 266265
Tags
Green Green List (high evidence)
SLC37A4
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease Ib
  • Congenital defects of phagocyte number or function
  • Glycogen storage disease Ib, 232220
  • Glycogen storage disease type 1b (GS1b)
  • Glycogen storage disease with or without neutropenia
  • Glycogen storage disease Ic
  • Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly
Tags
Green Green List (high evidence)
SLC39A7
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • B cell deficiency
  • Agammaglobulinemia
  • Early onset infections, blistering dermatosis, failure to thrive, thrombocytopenia
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
SLC46A1
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Folate malabsorption, hereditary 229050
  • Congenital defect of folate absorption
  • Megaloblastic anemia, failure to thrive, if untreated for prolonged periods results in intellectual disability
  • Defects of Vitamin B12 and Folate metabolism
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
SLC7A7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Lysinuric protein intolerance, 222700
  • Severe bacterial infections
  • Lysinuric protein intolerance SLC7A7 deficiency
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
SLX4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group P, 613951
Tags
Green Green List (high evidence)
SMARCAL1
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Schimke disease
  • Combined immunodeficiencies with associated or syndromic features
  • Schimke immunoosseous dysplasia 242900
  • Short stature, spondiloepiphyseal dysplasia, intrauterine growth retardation, nephropathy, bacterial, viral, fungal infections, may present as SCID, bone marrow failure
Tags
Green Green List (high evidence)
SMARCD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Congenital defects of phagocyte number or function
  • Neutropenia, developmental aberrations, skeletal abnormalities, hematopoietic stem cells, myelodysplasia
Tags
Green Green List (high evidence)
SNORA31
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Herpes simplex encephalitis
Tags
Green Green List (high evidence)
SNX10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis with visual impairment
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
SP110
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Hepatic veno-occlusive disease, Susceptibility to Pneumocystis jirovecii pneumonia, CMV, candida, thrombocytopenia, hepatosplenomegaly, cerebrospinal leukodystrophy
  • Hepatic venoocclusive disease with immunodeficiency 235550
  • Hepatic venoocclusive disease with immunodeficiency (VODI)
Tags
Green Green List (high evidence)
SPINK5
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Netherton syndrome 256500
  • Congenital ichthyosis, bamboo hair, atopic diathesis, increased bacterial infections, failure to thrive
Tags
Green Green List (high evidence)
SPPL2A
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Defects in Intrinsic and Innate Immunity
  • Susceptibility to mycobacteria
Tags
Green Green List (high evidence)
SRP54
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Schwachman Diamond features
  • Congenital defects of phagocyte number or function
Tags
Green Green List (high evidence)
SRP72
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Bone marrow failure syndrome 1, 614675
Tags
Green Green List (high evidence)
STAT1
5 reviews
4 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 31A, mycobacteriosis
  • Combined immunodeficiency
  • Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive 613796
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Candidiasis, familial, 7
  • Severe viral infections, mycobacterial infection
  • Chronic mucocutaneous candidiasis (CMC)
  • Susceptibility to mycobacteria, Salmonella
  • Immunodeficiency 31A, mycobacteriosis, autosomal dominant 614892
  • CMC, various fungal, bacterial and viral (HSV) infections, auto-immunity (thyroiditis, diabetes, cytopenias), enteropathy
  • Immunodeficiency 31C, autosomal dominant 614162
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
STAT2
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • STAT2 deficiency
  • Predisposition to several viral infection
  • Severe viral infections (disseminated vaccine-strain measles)
  • Defects in Intrinsic and Innate Immunity
  • Immunodeficiency 44, 616636
Tags
Green Green List (high evidence)
STAT3
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper-IgE recurrent infection syndrome 147060
  • Hyper IgE syndrome (HIES)
  • Diseases of Immune Dysregulation
  • Early-onset multi-organ autoimmune disease
  • Autoimmune disease, multisystem, infantile-onset, 1 615952
  • Combined immunodeficiencies with associated or syndromic features
  • Autoimmune disease, multisystem, infantile-onset
Tags
Green Green List (high evidence)
STAT5B
7 reviews
5 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification December 2029
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency
  • T-B+ SCID
  • Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity
  • Growth hormone insensitivity with immunodeficiency 245590
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
STIM1
6 reviews
4 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 10, 612783
  • Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
  • Combined immunodeficiency
  • Combined immunodeficiency due to STIM1 deficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
STK4
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Combined B and T cell defect v1.12
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
  • Intermittent neutropenia, bacterial, viral (HPV), candidal infections, EBV lymphoproliferation, autoimmune cytopenias, lymphoma, congenital heart disease
  • Combined immunodeficiency
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
  • Immunodeficiencies affecting cellular and humoral immunity
  • AR hyperimmunoglobulin E syndrome
Tags
Green Green List (high evidence)
STN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • Intrauterine growth retardation, premature aging, pancytopenia, hypocellular bone marrow, gastrointestinal hemorrhage due to vascular ectasia, intracranial calcification, abnormal telomeres
  • Bone marrow failure
Tags
Green Green List (high evidence)
STX11
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HLH4
  • Hemophagocytic lymphohistiocytosis, familial 4, 603552
  • Diseases of Immune Dysregulation
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • FHL4
  • HPLH4
  • Fever, HSM, cHLH, cytopenias,
Tags
Green Green List (high evidence)
STXBP2
5 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification December 2030
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 5, 613101
  • Diseases of Immune Dysregulation
  • Fever, HSM, cHLH, cytopenias, enteropathy
  • FHL5
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
Tags
Green Green List (high evidence)
TAP1
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HLA class I deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Vasculitis, pyoderma gangrenosum
  • Bare lymphocyte syndrome, type I 604571
Tags
Green Green List (high evidence)
TAP2
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Vasculitis, pyoderma gangrenosum
  • Bare lymphocyte syndrome, type I, due to TAP2 deficiency 604571
  • HLA class I deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Wegener-like granulomatosis
Tags
Green Green List (high evidence)
TAPBP
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Bare lymphocyte syndrome, type I 604571
  • Vasculitis, pyoderma gangrenosum
  • HLA class I deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Vasculitis,pyoderma gangrenosum
Tags
Green Green List (high evidence)
TAZ
5 reviews
4 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome
  • 3-methylglutaconic aciduria, type II, 302060
  • Congenital defects of phagocyte number or function
  • Cardiomyopathy, myopathy, growth retardation, neutropenia
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Tags
Green Green List (high evidence)
TBK1
5 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8} 617900
  • Herpes simplex encephalitis, susceptibility to
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
TBX1
7 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, conotruncal cardiac malformation, velopalatal insufficiency, abnormal facies, intellectual disability
  • DiGeorge syndrome 188400
  • Di George syndrome
  • T-B+ SCID
  • Severe combined immunodeficiency (SCID)
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
TCF3
8 reviews
6 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification December 2031
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Agammaglobulinemia
  • Recurrent bacterial infections
  • Agammaglobulinemia 8, autosomal dominant, 616941
  • Primary immunodeficiency
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
TCIRG1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Defects in intrinsic and innate immunity
  • Osteopetrosis with hypocalcemia
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
TCN2
9 reviews
7 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Agranulocytosis v1.3
  • A- or hypo-gammaglobulinaemia v1.25
  • Combined B and T cell defect v1.12
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Transcobalamin-2 precursor
  • Transcobalamin II deficiency
  • Agammaglobulinemia
  • Megaloblastic anemia, pancytopenia, if untreated for prolonged periods results in intellectual disability
  • pancytopenia
  • Transcobalamin II deficiency, 275350
  • neutropenic colitis
  • Defects of Vitamin B12 and Folate metabolism
  • megaloblastic bone
  • can have a presentation similar to severe combined immunodeficiency
  • Combined immunodeficiencies with associated or syndromic features
Tags
Green Green List (high evidence)
TERC
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • Bone marrow failure
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • Dyskeratosis congenita 1
  • Combined immunodeficiencies with associated or syndromic features
  • 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
  • microcephaly, neurodevelopmental delay
Tags
Green Green List (high evidence)
TERT
3 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Bone marrow failure
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • microcephaly, neurodevelopmental delay
Tags
Green Green List (high evidence)
TFRC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Recurrent infections, neutropenia, thrombocytopenia
  • Recurrent infections, thrombocytopenia
  • Immunodeficiencies affecting cellular and humoral immunity
Tags
Green Green List (high evidence)
TGFB1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213
  • IBD, immunodeficiency, recurrent viral infections, microcephaly, and encephalopathy
  • TGFB1 deficiency
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
TGFBR1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Loeys-Dietz syndrome 1, 609192
  • Loeys Dietz syndrome due to TGFBR1 deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
Tags
Green Green List (high evidence)
TGFBR2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Recurrent respiratory infections, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
  • Combined immunodeficiencies with associated or syndromic features
  • ALPS-FAS
Tags
Green Green List (high evidence)
THBD
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement Deficiencies
  • Thrombomodulin deficiency
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6
  • Atypical hemolytic-uremic syndrome
Tags
Green Green List (high evidence)
TICAM1
6 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, acute, infection-induced, susceptibility to, 6 614850
  • Herpes simplex virus 1 encephalitis
  • Herpetic encephalitis (HSE)
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
TINF2
3 reviews
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
  • microcephaly, neurodevelopmental delay exudative retinopathy
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • microcephaly, neurodevelopmental delay
Tags
Green Green List (high evidence)
TIRAP
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Staphylococcal disease during childhood
  • Defects of TLR/NFkappa-B signalling
  • TIRAP deficiency
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
TLR3
6 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis (incomplete clinical penetrance for all etiologies listed here)
  • Defects in Intrinsic and Innate Immunity
  • Herpes simplex encephalitis, susceptibility to, 2
Tags
Green Green List (high evidence)
TLR4
1 review
Unknown
Sources
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
TLR7
2 reviews
1 green
Unknown
Sources
  • Expert list
  • Expert Review Green
  • OMIM
Tags
Green Green List (high evidence)
TMC6
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Human papillomavirus (HPV) (group B1) infections and cancer of the skin (typical EV)
  • Epidermodysplasia verruciformis, 226400
  • Defects in Intrinsic and Innate Immunity
  • Epidermodysplasia Verruciformis
Tags
Green Green List (high evidence)
TMC8
6 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • HPV (group B1) infections and cancer of the skin (typical EV)
  • Epidermodysplasia verruciformis, 226400
  • Defects in Intrinsic and Innate Immunity
  • Epidermodysplasia Verruciformis
Tags
Green Green List (high evidence)
TMEM173
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert list
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2032
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, FCL
  • STING-associated vasculopathy, infantile-onset 615934
Tags
  • new-gene-name
Green Green List (high evidence)
TMPRSS2
5 reviews
1 green
Unknown
Sources
  • Expert Review Green
  • Literature
Tags
Green Green List (high evidence)
TNFAIP3
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • A20 deficiency
  • Autoimmune lymphoproliferative syndrome
  • Autoinflammatory Disorders
  • Autoinflammatory syndrome, familial, Behcet-like, 616744
  • Arthralgia, mucosal ulcers, ocular inflammation
Tags
Green Green List (high evidence)
TNFRSF11A
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Osteopetrosis
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
TNFRSF13B
7 reviews
4 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • IgA with IgG subclass deficiency
  • Immunodeficiency, common variable, 2
  • Immunodeficiency, common variable, 2, 240500
  • Variable clinical expression
  • Isolated IgG subclass deficiency
  • IGAD
  • Selective IgA deficiency
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • Immunoglobulin A deficiency 2, 609529
  • CVID
Tags
Green Green List (high evidence)
TNFRSF13C
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable, 4
  • Variable clinical expression
  • Isolated IgG subclass deficiency
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
TNFRSF1A
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Periodic fever, familial 142680
  • TNF-receptor associated periodic fever syndrome (TRAPS)
  • Recurrent fever, serositis, rash, and ocular or joint inflammation
  • Autoinflammatory Disorders
Tags
Green Green List (high evidence)
TNFRSF4
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Kaposi's Sarcoma, impaired immunity to HHV8, OX40 deficiency
  • Immunodeficiencies affecting cellular and humoral immunity
  • Impaired immunity to HHV8, Kaposis sarcoma
  • Combined immunodeficiency
Tags
Green Green List (high evidence)
TNFRSF9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • EBV lymphoproliferation, B-cell lymphoma
  • CD137 deficiency (41BB)
Tags
Green Green List (high evidence)
TNFSF11
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Osteopetrosis with severe growth retardation
  • Defects in intrinsic and innate immunity
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
TNFSF12
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency, common variable with lack of anti-pneumococcal antibody
  • Common variable immunodeficiency disorders (CVID)
  • Predominantly Antibody Deficiencies
  • Pneumonia, bacterial infections, warts, thrombocytopenia
  • Pneumonia, bacterial infections, warts, thrombocytopenia. neutropenia
Tags
Green Green List (high evidence)
TOP2B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Recurrent infections, facial dysmorphism, limb anomalies
  • Hoffman syndrome/TOP2B deficiency
  • Predominantly Antibody Deficiencies
Tags
Green Green List (high evidence)
TP53
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • OMIM
Phenotypes
  • Bone marrow failure syndrome 5, 618165
Tags
Green Green List (high evidence)
TPP2
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • immune thrombocytopenia and autoimmune hemolytic anemia
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • TPP2 deficiency
  • Tripeptidyl-Peptidase II Deficiency
  • Diseases of Immune Dysregulation
  • Evans syndrome
  • Variable lymphoproliferation, severe autoimmune cytopenias, hypergammaglobulinemia, recurrent infections
Tags
Green Green List (high evidence)
TRAC
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Immunodeficiencies affecting cellular and humoral immunity
  • Recurrent viral, bacterial, fungal infections, immune dysregulation and autoimmunity, diarrhea
  • Immunodeficiency 7, TCR-alpha/beta deficient, 615387
  • Combined immunodeficiency
Tags
Green Green List (high evidence)
TRAF3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • Expert Review Red
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • Defects in Intrinsic and Innate Immunity
  • Defects in intrinsic and innate immunity
  • {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5},614849
  • Herpes simplex encephalitis, susceptibility to, 3
Tags
Green Green List (high evidence)
TRAF3IP2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
Phenotypes
  • Defects in Intrinsic and Innate Immunity
  • Chronic mucocutaneous candidiasis (CMC)
  • Defects in intrinsic and innate immunity
  • Candidiasis, familial, 8 615527
  • CMC, blepharitis, folliculitis and macroglossia
Tags
Green Green List (high evidence)
TREX1
4 reviews
4 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Classical AGS, SLE, FCL
Tags
Green Green List (high evidence)
TRIM22
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • TRIM22
  • Granulomatous colitis
  • Autoinflammatory Disorders
  • Diseases of Immune Dysregulation
Tags
Green Green List (high evidence)
TRNT1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084
  • congenital sideroblastic anemia, deafness, developmental delay
  • Predominantly Antibody Deficiencies
  • Congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
Tags
Green Green List (high evidence)
TTC37
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
  • Trichohepatoenteric syndrome 1, 222470
  • Intrauterine growth retardation, woolly hair
  • intractable diarrhoea in infancy requiring total parenteral nutrition
  • Hypogammaglobulinaemia
  • Predominantly Antibody Deficiencies
  • facial dysmorphism
  • immune dysfunction
  • Trichohepatoenteric syndrome
Tags
Green Green List (high evidence)
TTC7A
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Immunodeficiencies with multiple intestinal atresias
  • Combined immunodeficiency
  • 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
  • Multiple intestinal atresia and severe combined immunodeficiency
Tags
Green Green List (high evidence)
TYK2
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper IgE syndrome (HIES)
  • Defects in Intrinsic and Innate Immunity
  • Immunodeficiency 35 611521
  • Susceptibility to intracellular bacteria (mycobacteria, Salmonella), viruses, +/- elevated IgE
Tags
Green Green List (high evidence)
UBE2T
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • Fanconi anemia, complementation group T, 616435
Tags
Green Green List (high evidence)
UNC13D
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 3, 608898
  • Diseases of Immune Dysregulation
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH3
  • HLH3
  • FHL3
  • Fever, HSM, HLH, cytopenias,
Tags
Green Green List (high evidence)
UNC93B1
7 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • Literature
  • London North GLH
  • Melbourne Genomics Health Alliance Immunology Flagship
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Herpetic encephalitis (HSE)
  • Herpes simplex virus 1 encephalitis
  • Herpes simplex encephalitis, susceptibility to, 1
  • {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1} 610551
  • Herpes simplex encephalitis
  • Defects in Intrinsic and Innate Immunity
Tags
Green Green List (high evidence)
UNG
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyper IgM syndrome with lymphoid hyperplasia
  • Immunodeficiency with hyper IgM, type 5, 608106
  • Enlarged lymph nodes and germinal centers
  • Predominantly Antibody Deficiencies
  • CSR defects and Hyper IgM (HIGM) syndromes
  • Immunodeficiency with hyper IgM, type 5
Tags
Green Green List (high evidence)
USB1
4 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Poikiloderma with neutropenia, 604173
  • Clericuzio-type poikiloderma with neutropenia syndrome
  • Congenital defects of phagocyte number or function
  • Retinopathy, developmental delay, facial dysmorphisms, poikiloderma
Tags
Green Green List (high evidence)
USP18
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397
  • Autoinflammatory Disorders
  • TORCH like syndrome
Tags
Green Green List (high evidence)
VPS13B
5 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Cohen syndrome, 216550
  • Congenital defects of phagocyte number or function
  • Dysmorphism, mental retardation, obesity, deafness, neutropenia
  • Cohen syndrome
Tags
Green Green List (high evidence)
VPS45
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Congenital neutropaenia v1.22
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • VPS45 deficiency (SCN5)
  • Neutropenia, severe congenital 5
  • Congenital defects of phagocyte number or function
  • Extramedullary hematopoiesis, bone marrow fibrosis, nephromegaly
  • Neutropenia, severe congenital, 5, autosomal recessive, 615285
Tags
Green Green List (high evidence)
WAS
8 reviews
6 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Combined B and T cell defect v1.12
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Wiskott-Aldrich syndrome (WAS)
  • Combined immunodeficiencies with associated or syndromic features
  • Neutropenia, myeloid maturation arrest, monocytopenia, variable lymphoid anomalies
  • Congenital neutropenia
  • X-linked thrombocytopenia
  • Congenital defects of phagocyte number or function
  • X-linked thrombocytopenia with mutations in WASP
  • Thrombocytopenia with small platelets, recurrent bacterial and viral infections, bloody diarrhea, eczema, lymphoma, autoimmune disease, IgA nephropathy, vasculitis
  • Neutropenia, severe congenital, X-linked, 300299
  • XL thrombocytopenia is a mild form of WAS, and XL neutropenia is caused by missense mutations in the GTPase binding domain of WASp
  • Wiskott-Aldrich syndrome
Tags
Green Green List (high evidence)
WDR1
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate
  • Congenital defects of phagocyte number or function
Tags
Green Green List (high evidence)
WIPF1
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • WIP deficiency
  • ?Wiskott-Aldrich syndrome 2 614493
  • Wiskott-Aldrich syndrome like, WIP deficiency
  • Combined immunodeficiencies with associated or syndromic features
  • Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent
Tags
Green Green List (high evidence)
WRAP53
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • IUIS Classification February 2018
Phenotypes
  • Bone marrow failure
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • Combined immunodeficiencies with associated or syndromic features
  • 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
  • microcephaly, neurodevelopmental delay
Tags
Green Green List (high evidence)
XIAP
5 reviews
4 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphoproliferative syndrome, X-linked, 2 (XLP2)
  • inflammatory bowel disease
  • 300635
  • splenomegaly
  • Diseases of Immune Dysregulation
  • X-linked lymphoproliferative syndrome (XLP)
  • haemophagocytic lymphohistiocytosis
  • Lymphoproliferative syndrome, X-linked, 2
  • EBV infection, Splenomegaly, lymphoproliferation, HLH, Colitis, IBD, hepatitis, Low iNKT cells, hypogammaglobulinemia
Tags
Green Green List (high evidence)
XRCC2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
Phenotypes
  • ?Fanconi anemia, complementation group U, 617247
Tags
Green Green List (high evidence)
ZAP70
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GOSH PID v.8.0
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • SCID v1.6
  • Victorian Clinical Genetics Services
Phenotypes
  • Selective T-cell defect
  • Combined immunodeficiency
  • Autoimmune disease, multisystem, infantile-onset, 2
  • Immunodeficiency 48
  • Severe Combined Immune Deficiency
  • Diseases of Immune Dysregulation
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe autoimmunity
  • Zap-70 deficiency
  • May have immune dysregulation, autoimmunity
  • Severe combined immunodeficiency (SCID)
Tags
Green Green List (high evidence)
ZBTB24
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Green
  • GRID V2.0
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiencies with associated or syndromic features
  • 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
Tags
Green Green List (high evidence)
ZNF341
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • IUIS Classification December 2019
  • Literature
Phenotypes
  • Hyper-IgE syndrome
  • Combined immunodeficiencies with associated or syndromic features
  • Bacterial infections, mild facial dysmorphism, pneumatoceles, hyperextensible joints, bone fractures, retention of primary teeth
Tags
Amber Amber List (moderate evidence)
APOE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • dementia
Tags
Amber Amber List (moderate evidence)
ATF3
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
ATG16L1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
ATG5
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
BECN1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
CCR7
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
CD207
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
CD28
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
CD4
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Amber
Phenotypes
  • Selective CD4 cell deficiency
  • OKT4 epitope deficiency, 613949
  • Absence of CD4+ T cells
  • exuberant, relapsing, treatment-refractory warts
Tags
Amber Amber List (moderate evidence)
CXADR
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
CXCR3
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
DDX58
1 review
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
DEFA1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
DPP4
2 reviews
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
DSG2
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
EIF3M
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
FCMR
1 review
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
FEZ1
1 review
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
FOLR1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
FURIN
2 reviews
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
GNAQ
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
GPATCH3
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
GPR183
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
GUCY2C
5 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • meconium ileus, 614665
  • Diarrhea 6, 614616
Tags
Amber Amber List (moderate evidence)
IDE
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
IFNL3
2 reviews
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
IL18
3 reviews
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Amber
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
Tags
Amber Amber List (moderate evidence)
IL3
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
IL9
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
ILF3
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
ITGAM
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • GRID V2.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Systemic lupus erythematous
Tags
Amber Amber List (moderate evidence)
ITPKB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Tags
Amber Amber List (moderate evidence)
KHDRBS1
1 review
Unknown
Sources
  • Expert Review Amber
  • Other
Tags
Amber Amber List (moderate evidence)
KRAS
4 reviews
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Amber
  • GRID V2.0
Phenotypes
  • RALD
  • RAS-associated autoimmune leukoproliferative disorder, 614470
Tags
Amber Amber List (moderate evidence)
LILRB1
1 review
Unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • HCMV susceptibility
Tags
Amber Amber List (moderate evidence)
MICA
2 reviews
1 red
Unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • primary immunodeficiency
Tags
Amber Amber List (moderate evidence)
MIF
1 review
Unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302
Tags
Amber Amber List (moderate evidence)
MIR155
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
MRC1
1 review
Unknown
Sources
  • Expert Review Amber
  • Other
Tags
Amber Amber List (moderate evidence)
MRE11
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Amber
  • GRID V2.0
Phenotypes
  • AT-like disorder
  • Ataxia-telangiectasia-like disorder 1 604391
Tags
Amber Amber List (moderate evidence)
MX2
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
NECTIN1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
NLRP6
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
NPC1
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
NRAS
6 reviews
2 green
Other
Sources
  • ESID Registry 20171117
  • Expert Review Amber
  • GOSH PID v.8.0
  • GRID V2.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Ras associated lymphoproliferative disease (RALD)
  • Autoimmune lymphoproliferative syndrome type IV
  • RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470
Tags
Amber Amber List (moderate evidence)
PDGFRA
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
PSMA3
4 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
Amber Amber List (moderate evidence)
PSMB10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Proteasome-associated autoinflammatory syndrome (PRAAS)
Tags
Amber Amber List (moderate evidence)
PSMB4
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Tags
Amber Amber List (moderate evidence)
PSMB9
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
  • Autoinflammation, lipodystrophy, and dermatosis syndrome
Tags
Amber Amber List (moderate evidence)
PTX3
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
PVR
2 reviews
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Amber Amber List (moderate evidence)
RC3H1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hemophagocytic lymphohistiocytosis
Tags
Amber Amber List (moderate evidence)
SCARB1
1 review
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
SERINC3
1 review
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
SERINC5
1 review
Unknown
Sources
  • Expert Review Amber
  • Literature
Tags
Amber Amber List (moderate evidence)
SLC2A1
1 review
Unknown
Sources
  • Expert list
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
TBX21
1 review
Unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • {Asthma, aspirin-induced, susceptibility to}, 208550
  • susceptibility to chronic HBV and HCV infection
Tags
Amber Amber List (moderate evidence)
TNFSF10
1 review
Unknown
Sources
  • Expert list
  • Expert Review Amber
  • OMIM
Tags
Red Red List (low evidence)
ABCB1
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
ABCC1
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
ABI3
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
ACE
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Not associated with susceptibility to SARS-coronavirus infection and disease outcomes
Tags
Red Red List (low evidence)
ACKR1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • OMIM
Phenotypes
  • [Blood group, Duffy system] 110700
Tags
Red Red List (low evidence)
AKT1
1 review
Not set
Sources
  • Expert Review Red
  • OMIM
Phenotypes
  • Cowden syndrome 6 615109
Tags
Red Red List (low evidence)
ANPEP
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
BANF1
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
BCAR1
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
BLOC1S6
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GRID V2.0
  • GRID V2.0North West GLH
  • NHS GMS
  • Victorian Clinical Genetics Services, London North GLH
Phenotypes
  • Immune Dysregulation
  • Hermansky-pudlak syndrome 9, 614171
  • HPS9, palladin deficiency (NK cell defect)
Tags
Red Red List (low evidence)
BST2
1 review
Unknown
Sources
  • Expert Review Red
  • Literature
  • Other
Tags
Red Red List (low evidence)
CC2D2A
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
CCL11
1 review
Not set
Sources
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
CCL3L1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
CCND1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
CCR5
1 review
1 red
Not set
Sources
  • OMIM
Phenotypes
  • {West nile virus, susceptibility to}, 610379
  • {HIV infection, susceptibility/resistance to}
Tags
Red Red List (low evidence)
CD200
0 reviews
Unknown
Sources
  • OMIM
Tags
Red Red List (low evidence)
CD209
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
CDKN1B
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
CLDN6
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
CLDN9
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
CNBP
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Steinert- myotonica dystrophia
Tags
Red Red List (low evidence)
COLEC11
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Tags
Red Red List (low evidence)
CPT2
1 review
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
CR1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
CTSB
1 review
Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
CTSL
1 review
Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
CX3CR1
1 review
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
CXorf36
1 review
1 red
Unknown
Sources
  • Literature
Tags
  • new-gene-name
Red Red List (low evidence)
CYP2B6
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
DDX1
1 review
Unknown
Sources
  • Literature
  • Other
Tags
Red Red List (low evidence)
DMBT1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
DMD
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
ELF4
5 reviews
3 red
Unknown
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Red
Phenotypes
  • X-linked hypogammaglobulinemia with isolated growth hormone deficiency
Tags
Red Red List (low evidence)
EPCAM
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Diarrhea 5, with tufting enteropathy, congenital
Tags
Red Red List (low evidence)
ERCC2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined immunodeficiency (CID) in a child affected by trichothiodystrophy (TTD)
  • CD4 + lymphopenia
Tags
Red Red List (low evidence)
ERCC3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • none
Tags
Red Red List (low evidence)
FBF1
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FBRS
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
FCGR1A
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Fc receptor deficiencies
Tags
Red Red List (low evidence)
FCGR2B
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Fc receptor deficiencies
Tags
Red Red List (low evidence)
FCGR3B
5 reviews
2 red
Unknown
Sources
  • Congenital neutropaenia v1.22
  • ESID Registry 20171117
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Neutropenia,alloimmuneneonatal
  • Neutropenia, autoimmune neonatal
  • Neutropenia, alloimmune neonatal
  • Fc receptor deficiencies
Tags
Red Red List (low evidence)
FCGRT
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Fc receptor deficiencies
Tags
Red Red List (low evidence)
FOXM1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
FPR3
3 reviews
2 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Localized juvenile peridontitis
Tags
Red Red List (low evidence)
GAD1
6 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • Expert Review Red
Phenotypes
  • ?Cerebral palsy, spastic quadriplegic, 1, 603513
Tags
Red Red List (low evidence)
GTF2H5
1 review
1 red
Unknown
Sources
  • London North GLH
  • NHS GMS
  • North West GLH
Tags
Red Red List (low evidence)
HBB
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
HFE
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
HIVEP1
1 review
Unknown
Sources
  • Expert Review Red
  • Other
Tags
Red Red List (low evidence)
HLA-C
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
HLA-DQB1
1 review
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
HSPA5
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
HTR2A
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
HYDIN
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
ICAM1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
IFNG
1 review
Not set
Sources
  • OMIM
Phenotypes
  • {AIDS, rapid progression to} 609423
Tags
Red Red List (low evidence)
IFNL4
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
IGHG2
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Immunoglobulin chain deficiencies
Tags
Red Red List (low evidence)
IL22
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • AutoAb Chronic Mucocutaneous Candidiasis
Tags
Red Red List (low evidence)
IL23A
3 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
Tags
Red Red List (low evidence)
IL31RA
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Amyloidosis, primary localized cutaneous 2, 613955
Tags
Red Red List (low evidence)
IL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Pooled results for susceptibility to tuberculosis, influenza, respiratory syncytial virus, SARS-Coronavirus and pneumonia infections
Tags
Red Red List (low evidence)
IL4R
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
IRGM
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
ITGAL
1 review
Unknown
Sources
  • Literature
  • Other
Tags
Red Red List (low evidence)
IVNS1ABP
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
KARS
1 review
1 red
Not set
Sources
  • Literature
Tags
  • new-gene-name
Red Red List (low evidence)
KPNA2
1 review
Unknown
Sources
  • Expert Review Red
  • Literature
  • Other
Tags
Red Red List (low evidence)
KRT18
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
LDB2
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
LDLR
1 review
1 green
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
LRRC8A
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • A- or hypo-gammaglobulinaemia v1.25
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Agammaglobulinemia 5, 613506
  • Agammaglobulinemia
Tags
Red Red List (low evidence)
LY6E
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
LYZ
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyloidosis, renal, 105200
Tags
Red Red List (low evidence)
MASP1
2 reviews
1 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
Phenotypes
  • Mannan-binding lectin serine protease (MASP) deficiency
Tags
Red Red List (low evidence)
MBL2
4 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • ESID Registry 20171117
  • Expert Review Amber
  • GRID V2.0
  • Inherited complement deficiency v0.11
  • Literature
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Mannose-binding lectin deficiency (MBL)
  • susceptibility to SARS-CoV
  • Susceptibility to Severe Acute Respiratory Syndrome Coronavirus Infection
  • Chronic infections, due to MBL deficiency
  • Mannose-Binding Protein Deficiency, 614372
Tags
Red Red List (low evidence)
MED13L
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
MET
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
MIS12
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
MLKL
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
MPI
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
MPP5
1 review
Unknown
Sources
  • Literature
  • Other
Tags
Red Red List (low evidence)
MST1R
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075
Tags
Red Red List (low evidence)
MTOR
1 review
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • 19543266
  • 29475942
  • 28953980
Tags
Red Red List (low evidence)
MTPAP
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
MUC5B
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
MX1
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
MYH9
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
NCR3
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • {Malaria, mild, susceptibility to}, 609148
Tags
Red Red List (low evidence)
NFKBID
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NRP2
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
NUP214
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
NUP88
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
OCLN
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
ODC1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
PARP1
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
PDCD1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
PHB
1 review
Unknown
Sources
  • Other
Tags
Red Red List (low evidence)
PHB2
1 review
Unknown
Sources
  • Literature
  • Other
Tags
Red Red List (low evidence)
PKD1L3
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
PLG
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
PQBP1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
PROM1
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
PRSS1
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
PTPN2
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • primary immunodeficiency
Tags
Red Red List (low evidence)
PTPN22
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Lupus susceptibility
  • {Systemic lupus erythematosus susceptibility to}
Tags
Red Red List (low evidence)
PYCARD
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
RB1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
RET
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • GOSH PID v.8.0
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Central hypoventilation syndrome, congenital 209880
Tags
Red Red List (low evidence)
RPAIN
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
SAMD3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • HLH, abnormal GRA
Tags
Red Red List (low evidence)
SART3
4 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Porokeratosis
Tags
Red Red List (low evidence)
SCN4A
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
SCN5A
2 reviews
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
SDC1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
SELPLG
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
SERPINA1
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
SGTA
1 review
Unknown
Sources
  • Expert Review Red
  • Other
Tags
Red Red List (low evidence)
SH3BP2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • GRID V2.0
  • IUIS Classification December 2019
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Other autoinflammatory diseases with known genetic defect
  • Autoinflammatory Disorders
  • Bone degeneration in jaws
  • Cherubism 118400
Tags
Red Red List (low evidence)
SIGIRR
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLAMF6
1 review
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC11A1
1 review
Unknown
Sources
  • Expert list
  • Literature
Tags
Red Red List (low evidence)
SLC13A4
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
SLC1A5
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC20A2
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLC6A19
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
SLFN12
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SLFN12L
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
SMAD3
1 review
Unknown
Sources
  • Literature
  • Other
Tags
Red Red List (low evidence)
SOCS1
1 review
Unknown
Sources
  • Literature
Phenotypes
  • primary immunodeficiency
Tags
Red Red List (low evidence)
SPNS3
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
STAT4
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • {Systemic lupus erythematosus, susceptibility to, 11}, 612253
Tags
Red Red List (low evidence)
STAT5A
3 reviews
3 red
Unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • GOSH PID v.8.0
Phenotypes
  • Defects with susceptibility to mycobacterial infection (MSMD)
  • Combined immunodeficiency
Tags
Red Red List (low evidence)
STAT6
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
STK17B
1 review
1 red
Unknown
Sources
  • Expert list
Tags
Red Red List (low evidence)
TAPT1
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
TLR2
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
TLR5
0 reviews
Unknown
Sources
  • OMIM
Phenotypes
  • {Legionnaire disease, susceptibility to} 608556
Tags
Red Red List (low evidence)
TMPRSS11A
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
TMPRSS4
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
TNF
1 review
1 red
Not set
Sources
  • OMIM
Tags
Red Red List (low evidence)
TNFSF4
0 reviews
Unknown
Sources
  • OMIM
Phenotypes
  • {Myocardial infarction, susceptibility to} 608446
Tags
Red Red List (low evidence)
TNIP1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
TPH1
0 reviews
Unknown
Sources
  • OMIM
Tags
Red Red List (low evidence)
TRIB3
1 review
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
TSPAN14
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
TUBGCP3
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
UNC119
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ESID Registry 20171117
  • Expert Review Red
  • GRID V2.0
Phenotypes
  • Immunodeficiency 13 615518
  • Combined immunodeficiency
  • Immunodeficiency 13/ UNC119 deficiency
Tags
Red Red List (low evidence)
UNC5CL
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
VPS11
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
VPS33A
2 reviews
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • OMIM
Tags
Red Red List (low evidence)
VPS4A
0 reviews
Unknown
Sources
  • OMIM
Tags
Red Red List (low evidence)
WSCD1
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
ZC3HC1
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
ZFHX3
1 review
1 red
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
ZFP36
1 review
1 red
Unknown
Sources
  • Literature
Tags
Red Red List (low evidence)
ZNF34
1 review
1 red
Unknown
Sources
  • Literature
Tags

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