COVID-19 research (Version 1.146)

Description

This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

-----

This is a research gene panel, 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.

Promoted to Version 1.0 on 29/05/2020 following external review and internal curation.

Panel Activity

26 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 Clinical Services Laboratory, Illumina Inc.)

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
Jamal Nasir (University of Northampton)

Group: GeCIP domain
Workplace: Research lab
Abdelazeem Elhabyan (Arizona State University)

Group: Other
Workplace: Other clinical service
Julie Taylor (Illumina Clinical Services Laboratory, Illumina Inc.)

Group: Other biotech or pharmaceutical
Workplace: Other diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

697 Entities

695 reviewed, 461 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 697 Entitiess
Green List (high evidence)	ABO	5 reviews 2 green	Unknown	Sources Expert Review Green Literature Phenotypes Virus susceptibility Tags
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, autosomal dominant 6, OMIM:616553 Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 Tags
Green List (high evidence)	ACE2	7 reviews 1 green	Unknown	Sources Expert Review Green Other Tags treatable
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 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 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 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 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 Polyarteritis nodosa, childhood-onset, early-onset recurrent ischemic stroke and fever Autoinflammatory Disorders Tags
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 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 Aicardi-Goutieres syndrome 6, OMIM:615010 Fever Syndromes and Related Diseases Type 1 interferonopathies Autoinflammatory Disorders Tags
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 Immunodeficiency with hyper-IgM, type 2, OMIM:605258 Hyper IgM syndrome with lymphoid hyperplasia Primary Immune Deficiencies 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 List (high evidence)	AIM2	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 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 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 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 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 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 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 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, OMIM:617718 Combined immune deficiency with or without thrombocytopenia Inflammatory predisposition Tags
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, OMIM:208900 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 Tags
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 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 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 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 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 List (high evidence)	BLK	1 review 1 green	Unknown	Sources Expert Review Green Literature Phenotypes Kawasaki disease Tags
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 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 List (high evidence)	BRCA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 Phenotypes Fanconi anemia, complementation group S, OMIM:617883 Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage Bone marrow failure Tags
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, OMIM:605724 Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage Bone marrow failure Tags
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, OMIM:609054 Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Pityriasis rubra pilaris, OMIM:173200 Psoriasis 2, OMIM:602723 Autoinflammatory Disorders Tags
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 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 List (high evidence)	CASP1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 List (high evidence)	CASP3	1 review	Unknown	Sources Expert Review Green Literature Phenotypes Kawasaki disease Tags
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 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 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 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 List (high evidence)	CCR2	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 List (high evidence)	CD244	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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, OMIM:245480 CCAAT/enhancer binding protein epsilon deficiency (CEBPE) Recurrent infection due to specific granule deficiency Neutrophil lactoferrin deficiency Neutrophils with bilobed nuclei Congenital defects of phagocyte number or function Tags
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 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 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 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 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 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 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 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 List (high evidence)	CFI	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 {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 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 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 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 List (high evidence)	CIB1	4 reviews 4 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 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 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 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 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 {Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414 Tags
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 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 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 Pseudoautosomal region 1
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 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 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 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 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 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 List (high evidence)	CXCL8	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 List (high evidence)	DAG1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 Dyskeratosis congenita, autosomal recessive 8, OMIM:620133 Tags
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 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 List (high evidence)	DICER1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 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 Autoinflammatory-pancytopenia syndrome, OMIM:619858 Tags
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 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 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 Hyper-IgE recurrent infection syndrome, autosomal recessive 243700 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 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 List (high evidence)	EGFR	2 reviews	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 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 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 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 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 Angioedema, hereditary, 3, OMIM:610618 Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)	FASLG	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 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 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 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 List (high evidence)	FCGR3A	3 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 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 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 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 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 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 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 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, OMIM:601705 (AR) T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, OMIM:618806 (AD) T-B+ SCID Severe infections, abnormal thymic epithelium, immunodeficiency, congenital alopecia, nail dystrophy, neural tube defect Combined immunodeficiencies with associated or syndromic features Tags
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 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 List (high evidence)	FPR2	4 reviews 1 green 1 red	Unknown	Sources ESID Registry 20171117 Expert Review Green Phenotypes Localized juvenile peridontitis Tags
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 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 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 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 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 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 List (high evidence)	HAVCR1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 List (high evidence)	HDAC6	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 List (high evidence)	HLA-DRB1	5 reviews 3 green	Unknown	Sources Expert Review Green Literature Tags
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 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 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 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 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 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 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 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 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 Aicardi-Goutieres syndrome 7, OMIM:615846 (AD) Singleton-Merten syndrome 1, OMIM:182250 (AD) Susceptibility to RNA viruses (AR) Tags
Green List (high evidence)	IFITM3	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green OMIM Phenotypes {Influenza, severe, susceptibility to}, 614680 Tags
Green List (high evidence)	IFNA1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 List (high evidence)	IFNE	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
Green List (high evidence)	IFNG	2 reviews 1 green	Unknown	Sources Expert Review Green OMIM Phenotypes {AIDS, rapid progression to} 609423 {Hepatitis C virus, response to therapy of} 609532 Tags
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 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 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 locus-type-immunoglobulin-gene
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 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 List (high evidence)	IKBKB	6 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 15A, OMIM:618204 (AD) Immunodeficiency 15B, OMIM:615592 (AR) Combined immunodeficiency Recurrent bacterial, viral, fungal infections, opportunistic infections Immunodeficiencies affecting cellular and humoral immunity Tags
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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)	IL18BP	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 Literature Phenotypes {?Hepatitis, fulminant viral, susceptibility to} 618549 Defects in intrinsic and innate immunity IL-18BP deficiency inborn errors of immunity related to leukocytes Tags
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 Interleukin 1 receptor antagonist deficiency, OMIM:612852 Sterile multifocal osteomyelitis, periostitis, and pustulosis DIRA Autoinflammatory Disorders Tags
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 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 Immunodeficiency 56, OMIM:615207 Atypical Severe Combined Immunodeficiency (Atypical SCID) Combined immunodeficiency Omenn syndrome Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease Immunodeficiencies affecting cellular and humoral immunity Tags
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 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 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 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 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 Psoriasis 14, pustular, OMIM:614204 Autoinflammatory Disorders Tags
Green List (high evidence)	IL6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green OMIM Phenotypes {Kaposi sarcoma, susceptibility to} 148000 Tags
Green List (high evidence)	IL6R	5 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 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 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 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 gene-checked
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 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 List (high evidence)	IRF1	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
Green List (high evidence)	IRF2	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 List (high evidence)	IRF4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 List (high evidence)	IRF5	1 review	Unknown	Sources Expert list Expert Review Green Tags
Green List (high evidence)	IRF7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources 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 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 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 List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss ISCA-37433-Loss Region	1 review	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 List (high evidence)	22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37446-Loss Region	1 review	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 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 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 List (high evidence)	ITGAV	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 List (high evidence)	ITGB3	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 List (high evidence)	ITPKC	1 review	Unknown	Sources Expert Review Green Literature Research Phenotypes Kawasaki disease, susceptibility to, 611775 Tags
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 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 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 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 List (high evidence)	KIAA0319L	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
Green List (high evidence)	KLF2	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 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 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 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 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 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 Majeed syndrome, OMIM:609628 Chronic recurrent multifocal osteomyelitis, transfusion-dependent anemia, cutaneous inflammatory disorders Autoinflammatory Disorders Tags
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 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 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 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 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 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 Immunodeficiency 112, OMIM:620449 Tags
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 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 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, AD, OMIM:134610 Familial Mediterranean fever, AR, OMIM:249100 Neutrophilic dermatosis, acute febrile, OMIM:608068 Recurrent fever, serositis and inflammation responsive to colchicine Predisposes to vasculitis and inflammatory bowel disease Autoinflammatory Disorders Tags
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 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 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 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 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 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 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 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, OMIM:260920 Mevalonic aciduria, OMIM:610377 Autoinflammatory Disorders Periodic fever and leukocytosis with high IgD levels Tags
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 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 Diarrhea 2, with microvillus atrophy, OMIM:251850 Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Autoinflammation with infantile enterocolitis, OMIM:616050 ?Familial cold autoinflammatory syndrome 4, OMIM:616115 Severe enterocolitis and macrophage activation syndrome Autoinflammatory Disorders Tags
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 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 Familial cold autoinflammatory syndrome 2, OMIM:611762 Non-pruritic urticaria, arthritis, chills, fever and leukocytosis after cold exposure Preterm premature rupture of membranes (PPROM) Autoinflammatory Disorders Tags
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, OMIM:607115 Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772 Familial cold inflammatory syndrome 1, OMIM:120100 Muckle-Wells syndrome, OMIM:191900 Tags
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, OMIM:186580 {Inflammatory bowel disease 1, Crohn disease}, OMIM:266600 {Yao syndrome}, OMIM:617321 Tags
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 List (high evidence)	NOS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Tags
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 List (high evidence)	OAS1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia, OMIM:618042 Tags
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 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 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, OMIM:617099 Fever, diarrhoea, dermatitis Autoinflammatory Disorders Tags
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 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 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 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 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 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 Immunodeficiency 14A, autosomal dominant, OMIM:615513 Immunodeficiency 14B, autosomal recessive, OMIM:619281 Combined immunodeficiency Activated PI3K-delta syndrome (APDS) Predominantly Antibody Deficiencies Sinopulmonary infections, dysgammaglobulinaemia, lymphadenopathy, nodular lymphoid hyperplasia and herpesviremia Severe bacterial infections Tags
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 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 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 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878 Familial cold autoinflammatory syndrome 3, OMIM:614468 Hypogammaglobulinaemia, cold induced urticaria, autoinflammatory Tags
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040 Autoinflammation, lipodystrophy, and dermatosis syndrome Contractures, panniculitis, ICC, fevers Autoinflammatory Disorders CANDLE syndrome Tags
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 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, OMIM:604416 Destructive arthritis, inflammatory skin rash, myositis Hyperzincaemia hypercalprotectinaemia Autoinflammatory Disorders Tags
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 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 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 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 List (high evidence)	RAD51	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification December 2019 Phenotypes ?Fanconi anemia, complementation group R, 617244 Tags
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 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 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 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 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 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 Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 Bacterial infections, autoinflammation, amylopectinosis Combined immunodeficiencies with associated or syndromic features Tags
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 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 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 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 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 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 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 MHC class II deficiency, complementation group B, OMIM:209920 HLA class II deficiency Respiratory and gastrointestinal infections, liver/biliary tract disease Immunodeficiencies affecting cellular and humoral immunity Tags
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 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 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 List (high evidence)	RMRP	7 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 locus-type-rna-long-non-coding
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 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 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 List (high evidence)	RNASEL	2 reviews 1 green	Unknown	Sources Expert list Expert Review Green OMIM Tags
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 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 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 Roifman syndrome, OMIM:616651 Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly Tags locus-type-rna-small-nuclear
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 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 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 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 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 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 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 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 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 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 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 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 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 List (high evidence)	SKIV2L	6 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 new-gene-name
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 Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome Autoinflammatory Disorders Tags
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 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, OMIM:232220 Glycogen storage disease Ic, OMIM:232240 Fasting hypoglycemia, lactic acidosis, hyperlipidemia, hepatomegaly Congenital defects of phagocyte number or function Tags
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 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, OMIM: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 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 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 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 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 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 locus-type-small-nucleolar
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 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 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 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 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 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 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 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 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 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 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590 Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 T-B+ SCID Combined immunodeficiency Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity Combined immunodeficiencies with associated or syndromic features Tags
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 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 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 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 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 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 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 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 List (high evidence)	TAZ	6 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 new-gene-name
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 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 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 8A, autosomal dominant, OMIM:616941 Agammaglobulinemia 8B, autosomal recessive, OMIM:619824 Recurrent bacterial infections Predominantly Antibody Deficiencies Tags
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 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 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 locus-type-rna-long-non-coding
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 Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags
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 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, OMIM:618213 Tags
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 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 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 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 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 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 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 List (high evidence)	TLR4	1 review	Unknown	Sources Expert Review Green OMIM Phenotypes Susceptibility to respiratory syncytial virus Tags
Green List (high evidence)	TLR7	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green OMIM Tags
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 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 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 STING-associated vasculopathy, infantile-onset, OMIM:615934 Type 1 interferonopathies Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC Autoinflammatory Disorders Tags new-gene-name
Green List (high evidence)	TMPRSS2	6 reviews 1 green	Unknown	Sources Expert Review Green Literature Tags treatable
Green List (high evidence)	TNF	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green OMIM Tags
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 Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744 Autoimmune lymphoproliferative syndrome Arthralgia, mucosal ulcers, ocular inflammation Tags
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 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 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 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, OMIM:142680 TNF-receptor associated periodic fever syndrome (TRAPS) Recurrent fever, serositis, rash, and ocular or joint inflammation Autoinflammatory Disorders Tags
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 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 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 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 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 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 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 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 locus-type-T-cell-receptor-gene
Green List (high evidence)	TRAF3	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 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 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 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 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 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 List (high evidence)	TTC37	6 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 new-gene-name
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 List (moderate evidence)	APOE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes dementia Tags
Amber List (moderate evidence)	ATF3	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	ATG16L1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	ATG5	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	BECN1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	CCR7	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	CD207	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	CD28	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
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 List (moderate evidence)	CLEC4M	3 reviews 1 red	Unknown	Sources Expert list Expert Review Amber OMIM Phenotypes SARS infection, protection against, 605872 Tags
Amber List (moderate evidence)	CPT2	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber OMIM Phenotypes {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212 Tags
Amber List (moderate evidence)	CX3CR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber OMIM Phenotypes {Rapid progression to AIDS from HIV1 infection} 609423 Tags
Amber List (moderate evidence)	CXADR	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	CXCR3	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	DDX58	2 reviews	Unknown	Sources Expert Review Amber Literature Tags new-gene-name
Amber List (moderate evidence)	DEFA1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	DPP4	3 reviews	Unknown	Sources Expert Review Amber Literature Phenotypes Susceptiblity to MERS-CoV infection Tags
Amber List (moderate evidence)	DSG2	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	EIF3M	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	FCMR	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	FEZ1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	FOLR1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	FURIN	2 reviews	Unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	FUT2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber OMIM Phenotypes {Norwalk virus infection, resistance to} Tags
Amber List (moderate evidence)	GC	3 reviews 1 red	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	GNAQ	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	GPATCH3	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	GPR183	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
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 List (moderate evidence)	IDE	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	IFNL3	2 reviews	Unknown	Sources Expert Review Amber Literature Tags
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 List (moderate evidence)	IL3	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	IL7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber OMIM Phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 Tags
Amber List (moderate evidence)	IL9	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	ILF3	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
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 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 List (moderate evidence)	IVNS1ABP	2 reviews 1 red	Unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	KHDRBS1	1 review	Unknown	Sources Expert Review Amber Other Tags
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 List (moderate evidence)	LILRB1	1 review	Unknown	Sources Expert Review Amber Other Phenotypes HCMV susceptibility Tags
Amber List (moderate evidence)	MICA	2 reviews 1 red	Unknown	Sources Expert Review Amber Literature Phenotypes primary immunodeficiency Tags
Amber List (moderate evidence)	MIF	1 review	Unknown	Sources Expert Review Amber Other Phenotypes {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 Tags
Amber List (moderate evidence)	MIR155	3 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	MRC1	1 review	Unknown	Sources Expert Review Amber Other Tags
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 List (moderate evidence)	MX2	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	NECTIN1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	NLRP6	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	NPC1	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
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 List (moderate evidence)	PDGFRA	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
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 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 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 List (moderate evidence)	PSMB9	5 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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) Autoinflammation, lipodystrophy, and dermatosis syndrome Tags
Amber List (moderate evidence)	PTX3	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	PVR	2 reviews	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Amber List (moderate evidence)	RC3H1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hemophagocytic lymphohistiocytosis Tags
Amber List (moderate evidence)	SCARB1	1 review	Unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SERINC3	1 review	Unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SERINC5	1 review	Unknown	Sources Expert Review Amber Literature Tags
Amber List (moderate evidence)	SLC2A1	1 review	Unknown	Sources Expert list Expert Review Amber Tags
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 List (moderate evidence)	TNFSF10	1 review	Unknown	Sources Expert list Expert Review Amber OMIM Tags
Red List (low evidence)	ABCA7	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	ABCB1	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	ABCC1	3 reviews 2 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	ABI3	1 review 1 red	Unknown	Sources Literature Tags
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 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 List (low evidence)	AKT1	1 review	Not set	Sources Expert Review Red OMIM Phenotypes Cowden syndrome 6 615109 Tags
Red List (low evidence)	ALOXE3	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	ANPEP	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	BANF1	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	BCAR1	1 review 1 red	Not set	Sources Literature Tags
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 List (low evidence)	BRF2	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	BST2	1 review	Unknown	Sources Expert Review Red Literature Other Tags
Red List (low evidence)	CC2D2A	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	CCL11	2 reviews	Not set	Sources Expert Review Red OMIM Tags
Red List (low evidence)	CCL21	1 review	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	CCL3L1	2 reviews 1 red	Not set	Sources OMIM Tags ensembl_ids_known_missing
Red List (low evidence)	CCND1	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	CCR5	2 reviews 1 red	Not set	Sources OMIM Phenotypes {West nile virus, susceptibility to}, 610379 {HIV infection, susceptibility/resistance to} Tags
Red List (low evidence)	CD200	1 review	Unknown	Sources Expert Review Red OMIM Tags
Red List (low evidence)	CD209	3 reviews 1 red	Not set	Sources OMIM Phenotypes {Dengue fever, protection against} 614371 {HIV type 1, susceptibility to} 609423 {Mycobacterium tuberculosis, susceptibility to} 607948 Tags
Red List (low evidence)	CDKN1B	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	CH25H	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	CLDN6	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	CLDN9	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	CNBP	4 reviews 1 red	Other	Sources ESID Registry 20171117 Expert Review Red Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags nucleotide-repeat-expansion
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 List (low evidence)	CR1	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	CTSB	1 review	Unknown	Sources Other Tags
Red List (low evidence)	CTSL	2 reviews	Unknown	Sources Other Tags
Red List (low evidence)	CXorf36	1 review 1 red	Unknown	Sources Literature Tags new-gene-name
Red List (low evidence)	CYP2B6	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	DDX1	1 review	Unknown	Sources Literature Other Tags
Red List (low evidence)	DMBT1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	DMD	1 review 1 red	Not set	Sources OMIM Tags Skewed X-inactivation
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 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, OMIM:613217 Tags
Red List (low evidence)	ERAP2	1 review	Unknown	Sources Literature Tags
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 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 List (low evidence)	FBF1	3 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FBRS	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	FCGR1A	3 reviews 1 red	Unknown	Sources ESID Registry 20171117 Expert Review Red Phenotypes Fc receptor deficiencies Tags
Red List (low evidence)	FCGR2B	3 reviews 1 red	Unknown	Sources ESID Registry 20171117 Expert Review Red Phenotypes Fc receptor deficiencies Tags
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 List (low evidence)	FCGRT	3 reviews 1 red	Unknown	Sources ESID Registry 20171117 Expert Review Red Phenotypes Fc receptor deficiencies Tags
Red List (low evidence)	FLNA	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	FOXM1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	FPR3	3 reviews 2 red	Unknown	Sources ESID Registry 20171117 Expert Review Red Phenotypes Localized juvenile peridontitis Tags
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 List (low evidence)	GTF2H5	1 review 1 red	Unknown	Sources London North GLH NHS GMS North West GLH Tags
Red List (low evidence)	HBB	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	HFE	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	HIVEP1	1 review	Unknown	Sources Expert Review Red Other Tags
Red List (low evidence)	HLA-A	1 review	Unknown	Sources Expert list Expert Review Red OMIM Phenotypes {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 Tags
Red List (low evidence)	HLA-C	2 reviews 2 red	Not set	Sources OMIM Phenotypes {HIV-1 viremia, susceptibility to} 609423 Tags
Red List (low evidence)	HLA-DPB1	1 review	Unknown	Sources Expert list Expert Review Red OMIM Phenotypes {Beryllium disease, chronic, susceptibility to} Tags
Red List (low evidence)	HLA-DQB1	2 reviews 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	HLA-DRA	1 review	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	HLA-DRB5	1 review	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	HSPA5	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	HTR2A	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	HYDIN	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	ICAM1	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	IFNL4	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	IGHG2	3 reviews 1 red	Unknown	Sources ESID Registry 20171117 Expert Review Red Phenotypes Immunoglobulin chain deficiencies Tags
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 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 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 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 List (low evidence)	IL4R	2 reviews 2 red	Not set	Sources OMIM Phenotypes {AIDS, slow progression to} 609423 Tags
Red List (low evidence)	IRGM	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	ITGAL	1 review	Unknown	Sources Literature Other Tags
Red List (low evidence)	KARS	1 review 1 red	Not set	Sources Literature Tags new-gene-name
Red List (low evidence)	KIR2DL2	3 reviews 1 green	Unknown	Sources Expert Review Red Literature Tags currently-ngs-unreportable ensembl_ids_known_missing
Red List (low evidence)	KPNA2	1 review	Unknown	Sources Expert Review Red Literature Other Tags
Red List (low evidence)	KRT18	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	LDB2	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	LDLR	1 review 1 red	Not set	Sources OMIM Tags
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 List (low evidence)	LY6E	1 review 1 red	Unknown	Sources Literature Tags
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 List (low evidence)	LZTFL1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Bardet-Biedl syndrome 17 OMIM:615994 Tags watchlist
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 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 List (low evidence)	MED13L	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	MET	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	MIS12	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	MLKL	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	MPI	2 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ib, OMIM:602579 MPI-CDG, MONDO:0011257 Tags
Red List (low evidence)	MPP5	2 reviews	Unknown	Sources Literature Other Tags new-gene-name
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 List (low evidence)	MTOR	1 review	Unknown	Sources Expert Review Red Other Phenotypes 19543266 29475942 28953980 Tags
Red List (low evidence)	MTPAP	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	MUC5AC	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	MUC5B	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	MX1	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	MYH9	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	NCR3	1 review 1 red	Unknown	Sources Literature Phenotypes {Malaria, mild, susceptibility to}, 609148 Tags
Red List (low evidence)	NFKBID	3 reviews 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NRP2	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	NUP214	2 reviews 2 red	Not set	Sources OMIM Phenotypes {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426 Tags
Red List (low evidence)	NUP88	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	OCLN	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	ODC1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	PARP1	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	PDCD1	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	PHB	1 review	Unknown	Sources Other Tags
Red List (low evidence)	PHB2	1 review	Unknown	Sources Literature Other Tags
Red List (low evidence)	PKD1L3	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	PLG	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	PQBP1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	PROM1	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	PRSS1	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	PTPN2	1 review 1 red	Unknown	Sources Literature Phenotypes primary immunodeficiency Tags
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 List (low evidence)	PYCARD	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	RB1	1 review 1 red	Not set	Sources OMIM Tags
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 List (low evidence)	RPAIN	1 review 1 red	Not set	Sources Literature Tags
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 List (low evidence)	SART3	4 reviews 3 red	Unknown	Sources Expert Review Red GRID V2.0 Phenotypes Porokeratosis Tags
Red List (low evidence)	SCN4A	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	SCN5A	2 reviews 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	SDC1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	SELPLG	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	SERPINA1	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	SGTA	1 review	Unknown	Sources Expert Review Red Other Tags
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 Cherubism, OMIM:118400 Autoinflammatory Disorders Tags
Red List (low evidence)	SIGIRR	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	SLAMF6	1 review	Unknown	Sources Expert list Tags
Red List (low evidence)	SLC11A1	1 review	Unknown	Sources Expert list Literature Tags
Red List (low evidence)	SLC13A4	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	SLC1A5	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	SLC20A2	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	SLC6A19	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	SLFN12	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	SLFN12L	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	SMAD3	1 review	Unknown	Sources Literature Other Tags
Red List (low evidence)	SOCS1	1 review	Unknown	Sources Literature Phenotypes primary immunodeficiency Tags
Red List (low evidence)	SPNS3	1 review 1 red	Not set	Sources Literature Tags
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 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 List (low evidence)	STAT6	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	STK17B	1 review 1 red	Unknown	Sources Expert list Tags
Red List (low evidence)	TAPT1	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	TLR2	1 review 1 red	Not set	Sources OMIM Tags
Red List (low evidence)	TLR5	1 review	Unknown	Sources Expert Review Red OMIM Phenotypes {Legionnaire disease, susceptibility to} 608556 Tags
Red List (low evidence)	TMEM181	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	TMPRSS11A	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	TMPRSS4	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	TNFSF4	1 review	Unknown	Sources Expert Review Red OMIM Phenotypes {Myocardial infarction, susceptibility to} 608446 Tags
Red List (low evidence)	TNIP1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	TPH1	1 review	Unknown	Sources Expert Review Red OMIM Tags
Red List (low evidence)	TRBC1	2 reviews	Unknown	Sources Expert Review Red Literature Tags ensembl_ids_known_missing
Red List (low evidence)	TRIB3	1 review	Unknown	Sources Literature Tags
Red List (low evidence)	TRIM69	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Susceptibility to herpes simplex encephalitis Tags
Red List (low evidence)	TSPAN14	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	TUBGCP3	1 review 1 red	Unknown	Sources Literature Tags
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, OMIM:615518 Tags
Red List (low evidence)	UNC5CL	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	VPS11	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	VPS33A	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red OMIM Tags
Red List (low evidence)	VPS4A	1 review	Unknown	Sources OMIM Tags
Red List (low evidence)	WSCD1	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	ZC3HC1	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	ZFHX3	1 review 1 red	Not set	Sources Literature Tags
Red List (low evidence)	ZFP36	1 review 1 red	Unknown	Sources Literature Tags
Red List (low evidence)	ZNF34	1 review 1 red	Unknown	Sources Literature Tags

Major version comments

2020-05-29 15:38 Catherine Snow (Genomics England) promoted panel to 1.0
Promoted to Version 1.0 on 29/05/2020 following external review and internal curation.

COVID-19 research (Version 1.146)

26 reviewers

697 Entities

695 reviewed, 461 green

5 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Tags

5 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

7 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Tags

4 reviews

Sources

Phenotypes

Tags

6 reviews

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

4 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

4 reviews

Sources