Immunological disorders_SuperPanel (Version 9.284)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 759 Entities
Green Green List (high evidence)	ACP5 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944 Short stature SLE, thrombocytopenia and autoimmune haemolytic anaemia Possibly recurrent bacterial and viral infections Tags
Green Green List (high evidence)	ACP5 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ADA Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ADA Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Green Green List (high evidence)	ADA Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Green Green List (high evidence)	ADA2 Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 common variable immunodeficiency Tags
Green Green List (high evidence)	ADA2 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ADA2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags
Green Green List (high evidence)	ADAM17 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections Tags
Green Green List (high evidence)	ADAM17 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections Tags
Green Green List (high evidence)	ADAR Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADAR Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AICDA Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AICDA Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Tags
Green Green List (high evidence)	AIRE Susceptibility to Fungal Infections v1.7	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300 Tags
Green Green List (high evidence)	AIRE Disorders of immune dysregulation v0.186	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green Green List (high evidence)	AK2 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis MIM# 267500 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness MONDO:0009973 Tags treatable
Green Green List (high evidence)	AK2 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Reticular dysgenesis MIM# 267500 MONDO:0009973 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness Tags treatable
Green Green List (high evidence)	ALPK1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979 Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Tags
Green Green List (high evidence)	ANKZF1 Inflammatory bowel disease v0.121	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related Tags
Green Green List (high evidence)	AP3B1 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags clinical trial treatable
Green Green List (high evidence)	AP3D1 Disorders of immune dysregulation v0.186	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 Oculocutaneous albinism Severe neutropaenia Recurrent infections Seizures Hearing loss Neurodevelopmental delay Tags
Green Green List (high evidence)	ARPC1B Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 Tags treatable
Green Green List (high evidence)	ARPC5 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green Green List (high evidence)	ARPC5 Combined Immunodeficiency v1.66	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green Green List (high evidence)	ATM Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia MIM# 208900 Progressive T cell decrease, poor T-cell proliferation to mitogens low IgA, IgE and IgG increased IgM monomers antibodies variably decreased Ataxia telangiectasia especially of sclerae pulmonary infections lymphoreticular and other malignancies increased alpha fetoprotein increased radiosensitivity, chromosomal instability and chromosomal translocations Tags
Green Green List (high evidence)	ATP6AP1 Predominantly Antibody Deficiency v0.135	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 47, MIM# 300972 Hepatopathy Leukopenia Low copper Tags
Green Green List (high evidence)	ATP6AP1 Common Variable Immunodeficiency v1.12	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 47, MIM#300972 Tags
Green Green List (high evidence)	B2M Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 43 MIM# 241600 Sinopulmonary infections Purple-red skin lesions Decreased serum IgG Decreased B cells Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c MONDO:0009434 Tags
Green Green List (high evidence)	BACH2 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 60, MIM# 618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BACH2 Inflammatory bowel disease v0.121	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 60, MIM# 618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BCL10 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 37, MIM# 616098 Tags
Green Green List (high evidence)	BCL11B Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 49, MIM# 617237 Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092 Tags
Green Green List (high evidence)	BLM Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bloom Syndrome MIM# 210900 Short stature, dysmorphic facies sun-sensitive immunoglobulin deficiency (IgA, IgG, IgM) erythema marrow failure leukaemia lymphoma chromosomal instability predisposition to malignancies Tags
Green Green List (high evidence)	BLNK Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 4, MIM# 613502 Tags treatable
Green Green List (high evidence)	BLOC1S6 Disorders of immune dysregulation v0.186	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 9, MIM# 614171 Tags
Green Green List (high evidence)	BTK Predominantly Antibody Deficiency v0.135	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia, X-linked 1, MIM# 300755 Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Tags treatable
Green Green List (high evidence)	BTK Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	C17orf62 Phagocyte Defects v1.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Chronic granulomatous disease 5, autosomal recessive, MIM# 618935 Tags new gene name
Green Green List (high evidence)	C1QA Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C1QB Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C1QC Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C1q deficiency MIM#613652 Tags
Green Green List (high evidence)	C1R Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	C1S Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C1s deficiency MIM#613783 Tags
Green Green List (high evidence)	C2 Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	C2orf69 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	C3 Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C3 deficiency MIM#613779 Tags
Green Green List (high evidence)	C5 Complement Deficiencies v0.73	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C5 deficiency MIM#609536 Tags
Green Green List (high evidence)	C6 Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C6 deficiency MIM#612446 Tags treatable
Green Green List (high evidence)	C7 Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C7 deficiency MIM#610102 Tags
Green Green List (high evidence)	C8B Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C8 deficiency, type II MIM#613789 Tags
Green Green List (high evidence)	C9 Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C9 deficiency MIM#613825 Tags
Green Green List (high evidence)	CARD11 Combined Immunodeficiency v1.66	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 11A, autosomal recessive, MIM# 615206 Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 Tags
Green Green List (high evidence)	CARD11 Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CARD14 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Psoriasis 2, MIM# 602723 Tags
Green Green List (high evidence)	CARD9 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 2, autosomal recessive, MIM# 212050 Predisposition to invasive fungal disease, MONDO:0008905 Tags
Green Green List (high evidence)	CARD9 Susceptibility to Fungal Infections v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 2, autosomal recessive, MIM# 212050 Predisposition to invasive fungal disease, MONDO:0008905 Tags
Green Green List (high evidence)	CARMIL2 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Early onset paediatric inflammatory bowel disease Tags
Green Green List (high evidence)	CARMIL2 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 58, MIM# 618131 Tags
Green Green List (high evidence)	CASP10 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Green Green List (high evidence)	CBLB Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Tags
Green Green List (high evidence)	CCBE1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia Tags
Green Green List (high evidence)	CCR5 Susceptibility to Viral Infections v0.117	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Hepatitis C virus, resistance to} 609532 {HIV infection, susceptibility/resistance to} {West nile virus, susceptibility to}MIM# 610379 Tags
Green Green List (high evidence)	CD19 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 3, MIM# 613493 Tags
Green Green List (high evidence)	CD19 Common Variable Immunodeficiency v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 3, MIM#613493 Tags
Green Green List (high evidence)	CD247 Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 25, MIM# 610163 Absent T cells Normal B cells Normal NK cells Tags
Green Green List (high evidence)	CD27 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 2 CD27-deficiency MIM# 615122 hepatosplenomegaly reduced CD8+ T-cell function lymphadenopathy hepatosplenomegaly fever increased susceptibility to EBV infection aplastic anaemia Tags
Green Green List (high evidence)	CD27 Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 2 CD27-deficiency MIM# 615122 hepatosplenomegaly reduced CD8+ T-cell function lymphadenopathy hepatosplenomegaly fever increased susceptibility to EBV infection aplastic anaemia Tags
Green Green List (high evidence)	CD27 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome 2, MIM# 615122 Tags
Green Green List (high evidence)	CD27 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome 2, MIM# 615122 Host response to EBV Tags
Green Green List (high evidence)	CD3D Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 19 MIM# 615617 Tags treatable
Green Green List (high evidence)	CD3E Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 18 MIM# 615615 Tags treatable
Green Green List (high evidence)	CD3G Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 17, CD3 gamma deficient MIM# 615607 immune deficiency autoimmunity failure to thrive recurrent gastrointestinal infections recurrent respiratory infections autoimmune haemolytic anaemia Bronchiolitis obliterans low CD3 complex partial T lymphocytopenia intractable diarrhoea. Tags
Green Green List (high evidence)	CD3G Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD4 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 79, MIM# 619238 Absence of CD4+ T cells exuberant, relapsing, treatment-refractory warts Tags
Green Green List (high evidence)	CD40 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags treatable
Green Green List (high evidence)	CD40LG Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 Severe opportunistic infections (recurrent), idiopathic neutropaenia dysgammaglobulinaemia hepatitis cholangitis cholangiocarcinoma autoimmune blood cytopenias haemolytic anaemia thrombocytopaenia diarrhoea peripheral neuroectodermal tumours Tags treatable
Green Green List (high evidence)	CD40LG Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD46 Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD55 Complement Deficiencies v0.73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 Tags
Green Green List (high evidence)	CD59 Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD70 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome 3, MIM# 618261 Host response to EBV Tags treatable
Green Green List (high evidence)	CD70 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome 3, MIM# 618261 Tags treatable
Green Green List (high evidence)	CD79A Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 3, MIM#613501 Tags treatable
Green Green List (high evidence)	CD79B Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 6, MIM# 612692 Tags treatable
Green Green List (high evidence)	CD81 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 6, MIM# 613496 Tags
Green Green List (high evidence)	CD81 Common Variable Immunodeficiency v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 6, MIM# 613496 Tags
Green Green List (high evidence)	CDC42 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neonatal-onset cytopaenia with dyshaematopoiesis autoinflammation rash HLH Tags
Green Green List (high evidence)	CDCA7 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 Tags
Green Green List (high evidence)	CEBPE Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Specific granule deficiency, MIM# 245480 Tags
Green Green List (high evidence)	CFD Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFH Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFI Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFP Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFTR Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cystic fibrosis, MIM# 219700 Tags
Green Green List (high evidence)	CHD7 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes CHARGE syndrome MIM# 214800 Hypogonadotropic hypogonadism 5 with or without anosmia MIM# 612370 Kallmann syndrome hypogonadotropic hypogonadism with or without anosmia (HH) Coloboma of the eye heart anomaly choanal atresia intellectual disability genital and ear anomalies, Deafness Delayed pubertal development CNS malformation Cleft lip SCID-like features lymphopaenia sever T-cell deficiency hypogammaglobulinaemia Tags
Green Green List (high evidence)	CIB1 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epidermodysplasia verruciformis 3 618267 HPV infections and cancer of the skin Tags
Green Green List (high evidence)	CIB1 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epidermodysplasia verruciformis 3, MIM# 618267 HPV infections and cancer of the skin Tags
Green Green List (high evidence)	CIITA Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 varied ID bronchiolitis pneumonia severe autoimmune cytopaenia CD4 T-cell lymphopaenia hypogammaglobulinemia absence of antigen-induced immune response chronic diarrhoea recurrent respiratory infections recurrent gastroenteritis failure to thrive liver/biliary tract disease Tags
Green Green List (high evidence)	CLCN7 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 4 MIM#611490 Tags
Green Green List (high evidence)	CLPB Phagocyte Defects v1.29	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Tags
Green Green List (high evidence)	COL4A3BP Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder 34 (MIM#616351) Tags new gene name
Green Green List (high evidence)	COPA Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 Tags
Green Green List (high evidence)	CORO1A Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 8, MIM# 615401 Tags treatable
Green Green List (high evidence)	CR2 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 7, MIM# 614699 Tags
Green Green List (high evidence)	CR2 Common Variable Immunodeficiency v1.12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 7, MIM# 614699 Tags
Green Green List (high evidence)	CSF2RA Phagocyte Defects v1.29	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770 Tags
Green Green List (high evidence)	CSF2RB Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370 Tags
Green Green List (high evidence)	CSF3R Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Tags
Green Green List (high evidence)	CTLA4 Common Variable Immunodeficiency v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTLA4 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTLA4 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CTPS1 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 24, MIM# 615897 Recurrent/chronic bacterial and viral infections (EBV, VZV) EBV lymphoproliferation B-cell non-Hodgkin lymphoma Tags
Green Green List (high evidence)	CTPS1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 24, MIM# 615897 Recurrent/chronic bacterial and viral infections (EBV, VZV) EBV lymphoproliferation B-cell non-Hodgkin lymphoma Tags
Green Green List (high evidence)	CTSC Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Papillon-Lefevre syndrome, MIM# 245000 Tags
Green Green List (high evidence)	CXCR2 Phagocyte Defects v1.29	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes WHIM syndrome 2 619407 Tags
Green Green List (high evidence)	CXCR4 Common Variable Immunodeficiency v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes WHIM syndrome, MIM# 193670 Tags
Green Green List (high evidence)	CXCR4 Susceptibility to Viral Infections v0.117	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CXCR4 Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CXCR4 Defects of innate immunity v0.134	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes WHIM syndrome 1, MIM# 193670 Tags
Green Green List (high evidence)	CXCR4 Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes WHIM syndrome 1, MIM# 193670 Tags
Green Green List (high evidence)	CYBA Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CYBA Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 4, autosomal recessive, MIM# 233690 MONDO:0009308 Tags
Green Green List (high evidence)	CYBB Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CYBB Defects of innate immunity v0.134	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease, X-linked, MIM# 306400 Tags
Green Green List (high evidence)	CYBB Phagocyte Defects v1.29	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease, X-linked, MIM# 306400 Tags
Green Green List (high evidence)	CYBB Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	DBR1 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441 Viral infections of the brainstem Tags
Green Green List (high evidence)	DCLRE1C Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Absent/reduced T and B cells decreased Ig levels Normal NK cell number increased risk of graft rejection possibly due to activated NK cells radiation sensitivity failure to thrive recurrent respiratory infections diarrhoea fever hypogammmaglobulinaemia Tags
Green Green List (high evidence)	DCLRE1C Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome MIM# 603554 Tags
Green Green List (high evidence)	DCLRE1C Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	DDX58 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lupus Nephritis, MONDO:0005556, DDX58-related Tags
Green Green List (high evidence)	DEF6 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 87 and autoimmunity, MIM# 619573 Systemic autoimmunity Tags
Green Green List (high evidence)	DIAPH1 Combined Immunodeficiency v1.66	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Combined Immune deficiency Tags
Green Green List (high evidence)	DKC1 Inflammatory bowel disease v0.121	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Dyskeratosis congenita, X-linked, MIM# 305000 Tags
Green Green List (high evidence)	DKC1 Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked MIM# 305000 Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation microcephaly, immunodeficiency aplastic anaemia thrombocytopaenia neurodevelopmental delay cerebellar hypoplasia opportunistic infections Tags
Green Green List (high evidence)	DNAJC21 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 3, MIM# 617052 Short stature Exocrine pancreatic insufficiency Pancytopaenia Shwachman-Diamond syndrome Tags
Green Green List (high evidence)	DNASE1L3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Systemic lupus erythematosus 16, MIM# 614420 Tags
Green Green List (high evidence)	DNASE2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammatory-pancytopaenia syndrome, MIM# 619858 Tags
Green Green List (high evidence)	DNMT3B Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860 facial dysmorphic features flat nasal bridge developmental delay macroglossia bacterial/opportunistic infections (recurrent) malabsorption cytopaenia malignancies multiradial configurations of chromosomes 1, 9, 16 Hypogammaglobulinaemia agammaglobulinaemia variable antibody deficiency decreased immunoglobulin production low T/B/NK cells Tags treatable
Green Green List (high evidence)	DNMT3B Predominantly Antibody Deficiency v0.135	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green Green List (high evidence)	DOCK11 Disorders of immune dysregulation v0.186	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Tags
Green Green List (high evidence)	DOCK11 Inflammatory bowel disease v0.121	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Inflammatory bowel disease Tags
Green Green List (high evidence)	DOCK2 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 40 MIM# 616433 T/B-cell lymphopaenia early-onset invasive herpes/viral/bacterial Infections function defects in T/B/NK cells immunodeficiency defective IFN-mediated immunity elevated IgM normal IgG/IgA levels Tags
Green Green List (high evidence)	DOCK8 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700 T cell Lymphopaenia decraese T/B/NK cells Eosinophilia low IgM elevated IgE recurrent cutaneous/ viral/ bacterial/ fungal/ infections severe atopy/allergic disease autoimmune haemolytic anaemia eczema cancer diathesis Tags treatable
Green Green List (high evidence)	DOCK8 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	DOCK8 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700 T cell Lymphopaenia decraese T/B/NK cells Eosinophilia low IgM elevated IgE recurrent cutaneous/ viral/ bacterial/ fungal/ infections severe atopy/allergic disease autoimmune haemolytic anaemia eczema cancer diathesis Tags
Green Green List (high evidence)	DPP9 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome MONDO:0019751, DPP9-related recurrent fevers repeated infections herpes susceptibility cytopaenias Tags
Green Green List (high evidence)	DSG1 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE MIM#615508 Tags
Green Green List (high evidence)	DUOX2 Inflammatory bowel disease v0.121	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inflammatory bowel disease, MONDO:0005265, DUOX2-related Tags
Green Green List (high evidence)	EFL1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Shwachman-Diamond syndrome 2, MIM# 617941 Tags
Green Green List (high evidence)	ELANE Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Neutropaenia, cyclic, MIM# 162800 Tags
Green Green List (high evidence)	ELANE Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropenia, cyclic MIM#162800 Tags
Green Green List (high evidence)	ELF4 Disorders of immune dysregulation v0.186	1 review 1 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 Other Phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Tags
Green Green List (high evidence)	EPG5 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	ERCC6L2 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 2, MIM# 615715 Tags
Green Green List (high evidence)	EXTL3 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	F12 Hereditary angioedema v1.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Angioedema, hereditary, 3, MIM# 610618 Tags founder
Green Green List (high evidence)	FADD Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes FADD-related immunodeficiency MONDO:0013408 Tags
Green Green List (high evidence)	FAS Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FASLG Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green Green List (high evidence)	FAT4 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006 Low/variable T and B cells Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features Tags
Green Green List (high evidence)	FCHO1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 76, MIM# 619164 Combined immunodeficiency T cells: low, poor proliferation B cells: normal number Recurrent infections (viral, mycobacteria, bacterial, fungal) lymphoproliferation Failure to thrive Increased activation-induced T-cell death Defective clathrin-mediated endocytosis Tags
Green Green List (high evidence)	FERMT3 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Leukocyte adhesion deficiency, type III, MIM# 612840 Tags
Green Green List (high evidence)	FNIP1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	FNIP1 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypertrophic Cardiomyopathy Primary Immunodeficiency Agammaglobulinemia Neutropenia Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	FOXN1 Severe Combined Immunodeficiency (absent T present B cells) v1.6	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806 Tags
Green Green List (high evidence)	FOXN1 Combined Immunodeficiency v1.66	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806 Tags
Green Green List (high evidence)	FOXP3 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FOXP3 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green Green List (high evidence)	G6PC3 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541 MONDO:0012930 Dursun syndrome, MIM# 612541 Tags
Green Green List (high evidence)	G6PC3 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	G6PD Phagocyte Defects v1.29	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Hemolytic anemia, G6PD deficient (favism), MIM# 300908 Tags
Green Green List (high evidence)	GATA2 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Tags treatable
Green Green List (high evidence)	GATA2 Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Emberger syndrome, MIM# 614038 Tags
Green Green List (high evidence)	GFI1 Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Tags treatable
Green Green List (high evidence)	GIMAP6 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Tags
Green Green List (high evidence)	GINS1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 55, MIM#617827 Tags
Green Green List (high evidence)	GUCY2C Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HAVCR2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green Green List (high evidence)	HAVCR2 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green Green List (high evidence)	HAX1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green Green List (high evidence)	HELLS Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 Tags
Green Green List (high evidence)	HMOX1 Defects of innate immunity v0.134	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Heme oxygenase-1 deficiency, MIM# 614034 Asplenia Tags
Green Green List (high evidence)	HPS1 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HPS4 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HPS6 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HTRA2 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	HYOU1 Phagocyte Defects v1.29	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 59 and hypoglycemia, MIM# 233600 Tags
Green Green List (high evidence)	ICOS Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 1 MIM# 607594 recurrent bacterial respiratory/gastrointestinal infections autoimmunity gastroenteritis low IgG/IgA normal-low IgM hypogammaglobulinaemia low-normal B-cells normal T-cells Bronchitis Lymphadenopathy Hepatomegaly Diarrhoea Tags SV/CNV
Green Green List (high evidence)	ICOS Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 1 MIM# 607594 recurrent bacterial respiratory/gastrointestinal infections autoimmunity gastroenteritis low IgG/IgA normal-low IgM hypogammaglobulinaemia low-normal B-cells normal T-cells Bronchitis Lymphadenopathy Hepatomegaly Diarrhoea Tags
Green Green List (high evidence)	ICOS Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IFIH1 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IFIH1 Inflammatory bowel disease v0.121	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inflammatory Bowel Disease Tags
Green Green List (high evidence)	IFIH1 Susceptibility to Viral Infections v0.117	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Severe viral respiratory infections Rhinovirus and other RNA viruses Tags
Green Green List (high evidence)	IFIH1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 7, MIM# 615846 Tags
Green Green List (high evidence)	IFNAR1 Susceptibility to Viral Infections v0.117	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 106, susceptibility to viral infections, MIM# 619935 Severe disease caused by Yellow Fever vaccine and Measles vaccine Tags
Green Green List (high evidence)	IFNAR2 Susceptibility to Viral Infections v0.117	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 45, MIM# 616669 Tags
Green Green List (high evidence)	IFNGR1 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Tags
Green Green List (high evidence)	IFNGR1 Defects of innate immunity v0.134	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Tags
Green Green List (high evidence)	IFNGR2 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 28, mycobacteriosis, MIM# 614889 Tags
Green Green List (high evidence)	IFNGR2 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 28, mycobacteriosis, MIM# 614889 Tags
Green Green List (high evidence)	IGHM Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Agammaglobulinemia 1, MIM# 601495 Tags
Green Green List (high evidence)	IGLL1 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 2, MIM# 613500 Tags
Green Green List (high evidence)	IKBKB Combined Immunodeficiency v1.66	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 15A, autosomal dominant, MIM# 618204 Immunodeficiency 15B, autosomal recessive, MIM# 615592 Tags
Green Green List (high evidence)	IKBKG Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IKBKG Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 1 MIM# 300291 Immunodeficiency 33 MIM# 300636 Tags
Green Green List (high evidence)	IKBKG Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Autoinflammatory disease, systemic, X-linked, MIM# 301081 Tags
Green Green List (high evidence)	IKZF1 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 13 MIM# 616873 recurrent bacterial respiratory infections Thrombocytopaenia immunodeficiency Hypogammaglobulinaemia decrease B-cells decrease B-cell differentiation decrease memory B/T cells Low Ig pneumocystis early CID onset Tags
Green Green List (high evidence)	IKZF1 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immune dysregulation Tags
Green Green List (high evidence)	IKZF1 Common Variable Immunodeficiency v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 13 MIM# 616873 recurrent bacterial respiratory infections Thrombocytopaenia immunodeficiency Hypogammaglobulinaemia decrease B-cells decrease B-cell differentiation decrease memory B/T cells Low Ig pneumocystis early CID onset Tags
Green Green List (high evidence)	IKZF1 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 13, MIM# 616873 Low IgG, IgA, IgM, low or normal B cells B cells and Ig levels reduce with age Decreased pro-B cells Recurrent sinopulmonary infections Increased risk of ALL, autoimmunity Tags
Green Green List (high evidence)	IKZF2 Disorders of immune dysregulation v0.186	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, MONDO:0021094, IKZF2-related Immune dysregulation Tags
Green Green List (high evidence)	IKZF3 Combined Immunodeficiency v1.66	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 84, MIM# 619437 Tags
Green Green List (high evidence)	IL10 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Diseases of Immune Dysregulation Early-onset inflammatory bowel disease Tags
Green Green List (high evidence)	IL10 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL10RA Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 Tags
Green Green List (high evidence)	IL10RA Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL10RB Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL10RB Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 Tags
Green Green List (high evidence)	IL12B Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 29, mycobacteriosis, MIM# 614890 Tags
Green Green List (high evidence)	IL12B Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 29, mycobacteriosis, MIM# 614890 Tags
Green Green List (high evidence)	IL12RB1 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 30, MIM# 614891 Tags
Green Green List (high evidence)	IL12RB1 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 30, MIM# 614891 Tags
Green Green List (high evidence)	IL17RA Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 51, MIM# 613953 MONDO:0013500 Tags
Green Green List (high evidence)	IL17RA Susceptibility to Fungal Infections v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 51, MIM# 613953 MONDO:0013500 Tags
Green Green List (high evidence)	IL17RC Susceptibility to Fungal Infections v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 9, MIM# 616445 MONDO:0014642 Tags
Green Green List (high evidence)	IL17RC Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 9, MIM# 616445 MONDO:0014642 Tags
Green Green List (high evidence)	IL1RN Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Interleukin 1 receptor antagonist deficiency, MIM# 612852 Tags
Green Green List (high evidence)	IL21R Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 56, MIM# 615207 Tags
Green Green List (high evidence)	IL23R Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inherited susceptibility to mycobacterial disease, MONDO:0019146, IL23R-related Tags
Green Green List (high evidence)	IL23R Defects of innate immunity v0.134	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency disease, MONDO:0021094 Susceptibility to mycobacteria and Salmonella Tags
Green Green List (high evidence)	IL2RA Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL2RA Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL2RB Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections Tags treatable
Green Green List (high evidence)	IL2RB Inflammatory bowel disease v0.121	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Tags
Green Green List (high evidence)	IL2RG Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL2RG Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia Tags
Green Green List (high evidence)	IL2RG Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency, X-linked, moderate MIM# 312863 Severe combined immunodeficiency, X-linked MIM# 300400 recurrent viral/fungal/bacterial infections Low T/NK cells Low Ig levels lymphocytopaenia hypogammaglobulinaemia failure to thrive diarrhoea Pneumonia Thymic hypoplasia Tags
Green Green List (high evidence)	IL36RN Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Psoriasis 14, pustular, MIM# 614204 Autoinflammatory syndrome, MONDO:0019751, IL36RN-related Tags
Green Green List (high evidence)	IL6ST Hyper-IgE syndrome v1.5	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyper-IgE recurrent infection syndrome 4A, autosomal dominant , MIM#619752 Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523 Tags
Green Green List (high evidence)	IL6ST Combined Immunodeficiency v1.66	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523 Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response Hyper-IgE syndrome, autosomal dominant Tags
Green Green List (high evidence)	IL7R Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971 low T-cell numbers normal-high B and NK-cell numbers fever rash failure to thrive recurrent respiratory and gastric infections Hepatomegaly Splenomegaly diarrhoea lymphadenopathy pneumonitis Pancytopaenia decreased immunoglobulins Tags
Green Green List (high evidence)	IL7R Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971 fever rash failure to thrive recurrent respiratory and gastric infections diarrhoea lymphadenopathy pneumonitis Pancytopaenia low T-cell numbers decreased immunoglobulins normal-high B/NK-cell numbers. Tags
Green Green List (high evidence)	IPO8 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities Tags
Green Green List (high evidence)	IRAK4 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 67, MIM# 607676 Tags
Green Green List (high evidence)	IRAK4 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, IRAK4-related Tags
Green Green List (high evidence)	IRF1 Mendelian susceptibility to Immune Disorders v0.49	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668 Tags
Green Green List (high evidence)	IRF2BP2 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 14, MIM# 617765 Tags
Green Green List (high evidence)	IRF2BP2 Common Variable Immunodeficiency v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 14 MIM#617765 Tags
Green Green List (high evidence)	IRF4 Combined Immunodeficiency v1.66	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Combined immunodeficiency, MONDO:0015131, IRF4-related Tags
Green Green List (high evidence)	IRF7 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 39, MIM# 616345 Tags
Green Green List (high evidence)	IRF7 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 39, MIM# 616345 Tags
Green Green List (high evidence)	IRF8 Defects of innate immunity v0.134	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags
Green Green List (high evidence)	IRF8 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags
Green Green List (high evidence)	ISG15 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 38, MIM# 616126 Tags
Green Green List (high evidence)	ISG15 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 38, MIM# 616126 Tags
Green Green List (high evidence)	ITCH Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ITGB2 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Leukocyte adhesion deficiency, MIM# 116920 Tags
Green Green List (high evidence)	ITGB2 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ITK Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome 1 MIM# 613011 Lymphadenopathy Recurrent infections Hypogammaglobulinaemia Evidence of EBV infection EBV associated B cell Lymphoproliferation High EBV viral load Normal-low serum Ig Depleted CD4+ T cells Anaemia Thrombocytopaenia Hepatosplenomegaly Tags
Green Green List (high evidence)	ITK Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome 1, MIM# 613011 EBV- associated B cell lymphoproliferation, lymphoma Tags
Green Green List (high evidence)	ITK Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome 1, MIM# 613011 EBV associated B call lymphoproliferation, lymphoma Tags
Green Green List (high evidence)	IVNS1ABP Combined Immunodeficiency v1.66	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 70, MIM#618969 Tags
Green Green List (high evidence)	JAGN1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags
Green Green List (high evidence)	JAK1 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Eosinophilia Eosinophilic enteritis Thyroid disease Poor growth Viral infections Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	JAK1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	JAK3 Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Tags treatable
Green Green List (high evidence)	KDM6A Combined Immunodeficiency v1.66	1 review 1 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 Expert list Phenotypes Kabuki syndrome 2 MIM#300867 Tags
Green Green List (high evidence)	KMT2D Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Kabuki syndrome 1 MIM#147920 Tags
Green Green List (high evidence)	LACC1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Juvenile arthritis MIM#618795 Tags
Green Green List (high evidence)	LAT Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 52, MIM# 617514 Tags
Green Green List (high evidence)	LCK Combined Immunodeficiency v1.66	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 22 MIM# 615758 Recurrent infections Immune dysregulation autoimmunity Low CD4+ low CD8+ restricted T cell repertoire poor TCR signaling Normal IgG/IgA high IgM failure to thrive diarrhoea lymphopenia hypogammaglobulinemia anaemia thrombocytopaenia CD4+ T-cell lymphopenia Tags
Green Green List (high evidence)	LCP2 Combined Immunodeficiency v1.66	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 81, MIM# 619374 Tags
Green Green List (high evidence)	LIG1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Combined immunodeficiency Lymphopaenia Hypogammaglobulinaemia Recurrent bacterial and viral infections Growth retardation Sun sensitivity, radiation sensitivity Macrocytosis Tags
Green Green List (high evidence)	LIG1 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 96, MIM# 619774 Tags
Green Green List (high evidence)	LIG4 Disorders of immune dysregulation v0.186	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes LIG4 syndrome, MIM# 606593 Immune dysregulation Tags
Green Green List (high evidence)	LIG4 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes LIG4 syndrome MIM# 606593 T-/B-lymphocytopaenia Normal NK, radiation sensitivity Microcephaly absent/low B and T cells low Ig raised IgM failure to thrive bacterial/viral/fungal infections hypogammaglobulinaemia neurodevelopmental delay microcephaly pancytopaenia Tags treatable
Green Green List (high evidence)	LIG4 Combined Immunodeficiency v1.66	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes LIG4 syndrome MIM# 606593 T-/B- lymphocytopaenia Normal NK, radiation sensitivity Microcephaly low B/C cells low Ig raised IgM failure to thrive bacterial/viral/fungal infections hypogammaglobulinaemia neurodevelopmental delay microcephaly pancytopaenia Tags treatable
Green Green List (high evidence)	LIG4 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes LIG4 syndrome, MIM# 606593 Tags
Green Green List (high evidence)	LPIN2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Majeed syndrome, MIM# 609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Tags
Green Green List (high evidence)	LRBA Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	LRBA Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Tags
Green Green List (high evidence)	LRBA Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Normal-decreased CD4 numbers T cell dysregulation Low-normal B cells Reduced IgG and IgA Recurrent infections chronic diarrhoea inflammatory bowel disease hypogammaglobulinaemia pneumonitis autoimmune disorders thrombocytopaenia Tags
Green Green List (high evidence)	LRBA Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700 Recurrent infections Inflammatory bowel disease Autoimmunity EBV infections Tags
Green Green List (high evidence)	LYN Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Tags
Green Green List (high evidence)	LYST Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green Green List (high evidence)	MAGT1 Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853 XMEN Low CD4 inverted CD4/CD8 ratio reduced MAIT cells poor proliferation to CD3 decreased memory B cells progressive hypogammaglobulinaemia reduced NK cell EBV infection lymphoma viral infections respiratory and GI infections Glycosylation defects Tags
Green Green List (high evidence)	MAGT1 Disorders of immune dysregulation v0.186	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853 Tags
Green Green List (high evidence)	MAGT1 Susceptibility to Viral Infections v0.117	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853 Tags
Green Green List (high evidence)	MALT1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 12 MIM# 615468 poor T-cell proliferation normal T/B cell numbers poor specific antibody response recurrent bacterial/fungal/viral infections bronchiectasis failure to thrive Tags
Green Green List (high evidence)	MAP3K14 Combined Immunodeficiency v1.66	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 112, MIM# 620449 NIK deficiency Poor T cell proliferation to antigen Low B-cell numbers Low NK number and function recurrent bacterial/viral/ cryptosporidium infections hypogammaglobulinaemia decreased immunoglobulin levels Tags
Green Green List (high evidence)	MAP3K14 Common Variable Immunodeficiency v1.12	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 112, MIM# 620449 Tags
Green Green List (high evidence)	MCTS1 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 118, mycobacteriosis, MIM# 301115 Tags
Green Green List (high evidence)	MEFV Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Familial Mediterranean fever, AD, MIM# 134610 Familial Mediterranean fever, AR, MIM# 249100 Neutrophilic dermatosis, MIM#608068 Tags
Green Green List (high evidence)	MEFV Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MOGS Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Severe hypogammaglobulinaemia Bacterial and viral infections Severe neurologic disease Tags
Green Green List (high evidence)	MOGS Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MOGS Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type IIb MIM#606056 Mannosyl-oligosaccharide glucosidase deficiency (MOGS) Tags
Green Green List (high evidence)	MPEG1 Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 77, MIM# 619223 Tags
Green Green List (high evidence)	MSN Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MSN Susceptibility to Viral Infections v0.117	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MSN Phagocyte Defects v1.29	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Expert list Phenotypes Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MTHFD1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780 Decreased Ig levels poor antibody responses to conjugated polysaccharide antigens low B/T/NK cells Recurrent bacterial infection megaloblastic anaemia failure to thrive neutropenia seizures intellectual disability folate-responsive Lymphopaenia Tags
Green Green List (high evidence)	MVK Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgD syndrome (MIM#260920) Mevalonic aciduria (MIM#610377) Tags
Green Green List (high evidence)	MVK Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MYD88 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 68, MIM# 612260 Tags
Green Green List (high evidence)	MYSM1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 4, MIM#618116 Tags treatable
Green Green List (high evidence)	NBAS Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Tags
Green Green List (high evidence)	NBAS Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800 Infantile liver failure syndrome 2 MIM#616483 Tags
Green Green List (high evidence)	NBN Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nijmegen breakage syndrome, MIM#251260 Tags
Green Green List (high evidence)	NCF1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 1, autosomal recessive, MIM# 233700 Tags
Green Green List (high evidence)	NCF1 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	NCF2 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NCF2 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NCF4 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Tags
Green Green List (high evidence)	NCKAP1L Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency Immune dysregulation Immunodeficiency 72 with autoinflammation, MIM# 618982 Tags
Green Green List (high evidence)	NCSTN Defects of innate immunity v0.134	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Acne inversa, familial, 1 MIM#142690 Tags
Green Green List (high evidence)	NFE2L2 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744 Recurrent respiratory and skin infection Growth retardation Developmental delay, borderline ID White matter cerebral lesions Tags
Green Green List (high evidence)	NFKB1 Common Variable Immunodeficiency v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Green Green List (high evidence)	NFKB1 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Green Green List (high evidence)	NFKB1 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 12 MIM# 616576 Normal-low IgG, IgA, IgM low-normal B cells low switched memory B cells hypogammaglobulinaemia recurrent respiratory and gastrointestinal infections Chronic obstructive pulmonary disease COPD EBV proliferation autoimmunity alopecia Tags
Green Green List (high evidence)	NFKB2 Common Variable Immunodeficiency v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 10 MIM# 615577 Low serum IgG, IgA, IgM low B cell numbers low switched memory B cells Recurrent sinopulmonary infections, Alopecia endocrinopathies ACTH deficiency Tags
Green Green List (high evidence)	NFKB2 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 10 MIM# 615577 Low serum IgG, IgA, IgM low B cell numbers low switched memory B cells Recurrent sinopulmonary infections, Alopecia endocrinopathies ACTH deficiency Tags
Green Green List (high evidence)	NFKB2 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 10 MIM# 615577 Low serum IgG, IgA, IgM low B cell numbers low switched memory B cells Recurrent sinopulmonary infections, Alopecia endocrinopathies ACTH deficiency Tags
Green Green List (high evidence)	NFKBIA Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Ectodermal dysplasia TCR/ BCR activation impaired low memory and isotype switched B cells decreased IgG and IgA elevated IgM poor specific antibody responses diarrhoea agammaglobulinaemia ectodermal dysplasia recurrent respiratory and gastrointestinal infections colitis variable defects of skin, hair and teeth Tags
Green Green List (high evidence)	NHEJ1 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 MONDO:0012650 Tags
Green Green List (high evidence)	NHP2 Combined Immunodeficiency v1.66	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 2 MIM# 613987 Shortened telomeres Leukoplakia Nail dystrophy Bone marrow failure Pancytopaenia reticulate skin pigmentation Thrombocytopaenia recurrent opportunistic infections Tags
Green Green List (high evidence)	NLRC4 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Familial cold autoinflammatory syndrome 4 - MIM#616115 Autoinflammation with infantile enterocolitis - MIM#616050 Tags
Green Green List (high evidence)	NLRP1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Palmoplantar carcinoma, multiple self-healing 615225 Recurrent respiratory papillomatosis Tags
Green Green List (high evidence)	NLRP12 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Familial cold autoinflammatory syndrome 2 - MIM#611762 Tags
Green Green List (high evidence)	NLRP3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Familial cold inflammatory syndrome 1, MIM# 120100 Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772 CINCA syndrome, MIM#12032915 607115 Tags
Green Green List (high evidence)	NOD2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Blau syndrome, MIM# 186580 Tags
Green Green List (high evidence)	NOD2 Inflammatory bowel disease v0.121	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes {Inflammatory bowel disease 1, Crohn disease} 266600 {Yao syndrome} 617321 Tags
Green Green List (high evidence)	OAS1 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green Green List (high evidence)	OAS1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green Green List (high evidence)	ORAI1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 9, MIM# 612782 Tags
Green Green List (high evidence)	OSTM1 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 5 MIM#259720 Tags
Green Green List (high evidence)	OTULIN Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Tags
Green Green List (high evidence)	OTULIN Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Tags
Green Green List (high evidence)	OTULIN Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 Tags
Green Green List (high evidence)	PARN Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Tags
Green Green List (high evidence)	PAX1 Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic SCID dysmorphism ear abnormalities Otofaciocervical syndrome 2, MIM# 615560 Tags
Green Green List (high evidence)	PEPD Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Prolidase deficiency, MIM#170100 Tags
Green Green List (high evidence)	PGM3 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PGM3 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PIK3CD Predominantly Antibody Deficiency v0.135	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 14, MIM# 615513 Tags
Green Green List (high evidence)	PIK3CD Common Variable Immunodeficiency v1.12	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags
Green Green List (high evidence)	PIK3CD Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PIK3CG Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 97 with autoinflammation, MIM# 619802 Immune dysregulation HLH-like childhood-onset antibody defects cytopenias T lymphocytic pneumonitis and colitis Tags
Green Green List (high evidence)	PIK3R1 Common Variable Immunodeficiency v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 36 MIM#616005 Tags
Green Green List (high evidence)	PIK3R1 Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PLCG2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Tags
Green Green List (high evidence)	PLCG2 Susceptibility to Viral Infections v0.117	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related Susceptibility to herpes virus Tags
Green Green List (high evidence)	PLCG2 Common Variable Immunodeficiency v1.12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Common variable immunodeficiency Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Tags
Green Green List (high evidence)	PLEKHM1 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 6 MIM#611497 Tags
Green Green List (high evidence)	PLG Hereditary angioedema v1.5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hereditary angioedema-4 (HAE4), MIM#619360 Tags
Green Green List (high evidence)	PNP Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM# 613179 Autoimmune hemolytic anaemia neurological impairment SCID CID hypouricaemia failure to thrive chronic diarrhoea recurrent respiratory/ gastrointestinal infections normal-low Ig levels spastic paresis tremor ataxia DD Tags
Green Green List (high evidence)	POLA1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220 Tags deep intronic
Green Green List (high evidence)	POLD1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 120, MIM# 620836 Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum short stature intellectual disability Tags
Green Green List (high evidence)	POLD3 Severe Combined Immunodeficiency (absent T present B cells) v1.6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 122, MIM# 620869 Tags
Green Green List (high evidence)	POLE Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes FILS syndrome, MIM# 615139 IMAGE-I syndrome, MIM# 618336 Tags deep intronic
Green Green List (high evidence)	POMP Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Combined immunodeficiency Autoinflammation Tags
Green Green List (high evidence)	PRF1 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PRKCD Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green Green List (high evidence)	PRKCD Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green Green List (high evidence)	PRKDC Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966 Absent T and B cells normal NK cells SCID recurrent respiratory infections microcephaly seizures developmental delay Tags
Green Green List (high evidence)	PSEN1 Defects of innate immunity v0.134	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes ?Acne inversa, familial, 3 MIM#613737 Tags
Green Green List (high evidence)	PSENEN Defects of innate immunity v0.134	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Tags
Green Green List (high evidence)	PSMB10 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Tags
Green Green List (high evidence)	PSMB10 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 Tags
Green Green List (high evidence)	PSMB8 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698 Tags
Green Green List (high evidence)	PSMB9 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 Proteasome-associated autoinflammatory syndrome 6, MIM# 620796 Tags
Green Green List (high evidence)	PSTPIP1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome Tags
Green Green List (high evidence)	PTCRA Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, PTCRA-related Tags
Green Green List (high evidence)	PTEN Common Variable Immunodeficiency v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Macrocephaly/autism syndrome MIM#605309 Cowden syndrome 1 MIM#158350 Skewed immune repertoire composition Tags
Green Green List (high evidence)	PTPRC Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 Hepatitis C virus, susceptibility to MIM# 609532 Tags
Green Green List (high evidence)	RAB27A Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Griscelli syndrome, type 2, MIM# 607624 Tags
Green Green List (high evidence)	RAC2 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutrophil immunodeficiency syndrome, MIM# 608203 Common variable immunodeficiency Tags
Green Green List (high evidence)	RAC2 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes SCID recurrent bacterial and viral infections lymphoproliferation neutropaenia reticular dysgenesis deafness Tags
Green Green List (high evidence)	RAC2 Combined Immunodeficiency v1.66	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis MIM# 608203 Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinaemia MIM# 618987 Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopaenia MIM# 618986 Tags
Green Green List (high evidence)	RAC2 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes SCID recurrent bacterial and viral infections lymphoproliferation neutropaenia reticular dysgenesis deafness selective IgA deficiency Reduced Ab responses following vaccination Tags
Green Green List (high evidence)	RAD50 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nijmegen breakage syndrome-like disorder, MIM# 613078 Hypogammaglobulinaemia Tags
Green Green List (high evidence)	RAG1 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RAG1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889 Combined cellular and humoral immune defects with granulomas MIM# 233650 Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Tags
Green Green List (high evidence)	RAG1 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, B cell-negative (MIM#601457) Tags
Green Green List (high evidence)	RAG2 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Severe combined immunodeficiency, B cell-negative (MIM#601457) Tags
Green Green List (high evidence)	RAG2 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Combined cellular and humoral immune defects with granulomas MIM# 233650 Tags
Green Green List (high evidence)	RAG2 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RANBP2 Defects of innate immunity v0.134	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RASGRP1 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 64, MIM#618534 Tags
Green Green List (high evidence)	RBCK1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia Tags
Green Green List (high evidence)	RBCK1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia Tags
Green Green List (high evidence)	RELA Inflammatory bowel disease v0.121	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mucocutaneous ulceration, chronic, MIM# 618287 Inflammatory bowel disease Tags
Green Green List (high evidence)	RELA Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Mucocutaneous ulceration, chronic, MIM# 618287 Impaired NFkB activation reduced production of inflammatory cytokines autoimmune cytopaenias Tags
Green Green List (high evidence)	RELA Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Mucocutaneous ulceration, chronic, MIM# 618287 periodic fever, inflammatory bowel disease, JIA Tags
Green Green List (high evidence)	RFX5 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group C MIM# 209920 Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Tags
Green Green List (high evidence)	RFXANK Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes MHC class II deficiency, complementation group B MIM# 209920 Bare Lymphocyte Syndrome, type II, complementation group B Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags founder
Green Green List (high evidence)	RFXAP Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 Low CD4+ T cells reduced MHC II expression on lymphocytes Normal-low Ig levels Failure to thrive respiratory/gastrointestinal infections liver/biliary tract disease diarrhoea Severe autoimmune cytopaenia agammaglobulinaemia Tags
Green Green List (high evidence)	RHBDF2 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pneumonia Colitis Immunodeficiency Tags
Green Green List (high evidence)	RIPK1 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 57, MIM#618108 Tags
Green Green List (high evidence)	RIPK1 Disorders of immune dysregulation v0.186	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 57, MIM#618108 Tags
Green Green List (high evidence)	RMRP Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Cartilage hair hypoplasia (CHH) MIM#250250 shortened limbs short stature metaphysical dysplasia fine, sparse and/or light-coloured hair hematologic abnormalities CID impaired lymphocyte proliferation low Ig levels antibodies variably decreased bone marrow failure autoimmunity susceptibility to lymphoma and other cancers impaired spermatogenesis neuronal dysplasia of the intestine Tags
Green Green List (high evidence)	RNASEH2A Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2A Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RNASEH2B Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2B Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RNASEH2C Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNASEH2C Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RNF168 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes RIDDLE syndrome MIM# 611943 Radiosensitivity Immune Deficiency Dysmorphic Features Learning difficulties Low IgG or IgA Short stature mild defect of motor control to ataxia normal intelligence to learning difficulties mild facial dysmorphism to microcephaly Tags
Green Green List (high evidence)	RNU4ATAC Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lowry-Wood syndrome MIM#226960 Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710 Roifman syndrome MIM#616651 Tags
Green Green List (high evidence)	RNU7-1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Aicardi-Goutieres syndrome 9 (MIM#619487) Tags
Green Green List (high evidence)	RORC Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 42, MIM# 616622 Tags
Green Green List (high evidence)	RORC Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RORC Susceptibility to Fungal Infections v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 42, MIM# 616622 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710 Tags
Green Green List (high evidence)	RPSA Defects of innate immunity v0.134	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Asplenia, isolated congenital, MIM# 271400 Tags
Green Green List (high evidence)	RTEL1 Combined Immunodeficiency v1.66	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 4 MIM# 615190 Dyskeratosis congenita, autosomal recessive 5 MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 MIM# 616373 Tags
Green Green List (high evidence)	RTEL1 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SAMD9 Inflammatory bowel disease v0.121	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIRAGE syndrome, MIM# 617053 Tags
Green Green List (high evidence)	SAMHD1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SAMHD1 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SASH3 Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SASH3 Disorders of immune dysregulation v0.186	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SAT1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Systemic lupus erythematosus, MONDO:0007915, SAT1-related Tags
Green Green List (high evidence)	SBDS Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Shwachman-Diamond syndrome, MIM# 260400 Tags
Green Green List (high evidence)	SEC61A1 Common Variable Immunodeficiency v1.12	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Immunodeficiency, common variable, 15, MIM# 620670 Tags
Green Green List (high evidence)	SEC61A1 Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674 Immunodeficiency, common variable, 15, MIM# 620670 Tags
Green Green List (high evidence)	SEC61A1 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Immunodeficiency, common variable, 15, MIM# 620670 Tags
Green Green List (high evidence)	SENP7 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Tags
Green Green List (high evidence)	SENP7 Phagocyte Defects v1.29	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Tags
Green Green List (high evidence)	SERPINA1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 Tags
Green Green List (high evidence)	SERPING1 Hereditary angioedema v1.5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Angioedema, hereditary, 1 and 2, MIM# 106100 Tags
Green Green List (high evidence)	SERPING1 Complement Deficiencies v0.73	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SGPL1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Phenotypes Sphingosine Phosphate Lyase Insufficiency Syndrome Nephrotic syndrome, type 14, MIM#617575 Tags
Green Green List (high evidence)	SH2D1A Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SH2D1A Susceptibility to Viral Infections v0.117	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Host response to EBV infection Lymphoproliferative syndrome, X-linked, 1 308240 Tags
Green Green List (high evidence)	SH2D1A Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SH2D1A Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SHARPIN Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammation with episodic fever and immune dysregulation, MIM# 620795 Tags
Green Green List (high evidence)	SKIV2L Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SKIV2L Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 2, MIM#614602 Tags
Green Green List (high evidence)	SKIV2L Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 2, MIM# 614602 Respiratory infections IUGR Facial dysmorphic features Wooly hair Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities Tags
Green Green List (high evidence)	SLC29A3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Tags
Green Green List (high evidence)	SLC35C1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green Green List (high evidence)	SLC37A4 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SLC37A4 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Glycogen storage disease Ib, MIM# 232220 Tags
Green Green List (high evidence)	SLC39A7 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Agammaglobulinaemia 9, autosomal recessive, MIM# 619693 Antibody deficiency early onset infections blistering dermatosis failure to thrive thrombocytopaenia Tags
Green Green List (high evidence)	SLC46A1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Folate malabsorption, hereditary MIM# 229050 Decreased Ig levels megaloblastic anaemia failure to thrive Immunodeficiency if untreated for prolonged periods results in intellectual disability oral mucositis hypoimmunoglobulinaemia recurrent infections seizures motor impairment leukopaenia thrombocytopaenia Tags founder
Green Green List (high evidence)	SLC7A7 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lysinuric protein intolerance, MIM# 222700 Hyper-inflammatory response of macrophages Normal NK cell function Lysinuric protein intolerance Bleeding tendency Alverolar proteinosis Tags
Green Green List (high evidence)	SLCO2A1 Inflammatory bowel disease v0.121	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related Enteropathy Tags
Green Green List (high evidence)	SMARCAL1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Schimke immune-osseous dysplasia MIM# 242900 T cell deficiency Short stature spondyloepiphyseal dysplasia renal dysfunction lymphocytopaenia nephropathy bacterial/viral/fungal infections may present as SCID bone marrow failure Tags
Green Green List (high evidence)	SMARCD2 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Specific granule deficiency 2, MIM# 617475 Neutropaenia Neurodevelopmental abnormalities in some Myelodysplasia Tags
Green Green List (high evidence)	SNORA31 Susceptibility to Viral Infections v0.117	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396 Tags
Green Green List (high evidence)	SNX10 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 8 MIM#615085 Tags
Green Green List (high evidence)	SOCS1 Inflammatory bowel disease v0.121	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Enteropathy Tags
Green Green List (high evidence)	SOCS1 Disorders of immune dysregulation v0.186	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Early-onset autoimmunity Tags
Green Green List (high evidence)	SOCS1 Common Variable Immunodeficiency v1.12	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Common variable immunodeficiency Tags
Green Green List (high evidence)	SP110 Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SP110 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Hepatic veno-occlusive disease susceptibility to Pneumocystis jirovecii pneumonia cytomegalovirus thrombocytopaenia hepatosplenomegaly cerebrospinal leukodystrophy memory T/B cell deficiency low Ig levels absent tissue plasma cells absent lymph node germinal centers hypogammaglobulinaemia Tags founder
Green Green List (high evidence)	SPI1 Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Agammaglobulinaemia 10, autosomal dominant, MIM# 619707 Tags
Green Green List (high evidence)	SPINK5 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Netherton syndrome, MIM# 256500 Tags
Green Green List (high evidence)	SPINK5 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Netherton syndrome MIM# 256500 Low switched and non-switched B cells High IgE and IgA Antibody variably decreased Congenital ichthyosis bamboo hair atopic diathesis increased bacterial infections failure to thrive food allergies Tags
Green Green List (high evidence)	SRP54 Phagocyte Defects v1.29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags
Green Green List (high evidence)	STAT1 Susceptibility to Viral Infections v0.117	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796 Tags
Green Green List (high evidence)	STAT1 Defects of innate immunity v0.134	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT1 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT1 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT1 Susceptibility to Fungal Infections v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 31C, autosomal dominant, MIM# 614162 Predisposition to Mucocutaneous Candidiasis Tags
Green Green List (high evidence)	STAT2 Defects of innate immunity v0.134	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT2 Susceptibility to Viral Infections v0.117	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Autoinflammatory disorder Tags
Green Green List (high evidence)	STAT3 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Tags
Green Green List (high evidence)	STAT3 Susceptibility to Fungal Infections v1.7	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyper-IgE recurrent infection syndrome , MIM#147060 Mucocutaneous candidiasis Tags
Green Green List (high evidence)	STAT3 Disorders of immune dysregulation v0.186	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Lymphoproliferation solid organ autoimmunity recurrent infections short stature eczema delayed puberty dental abnormalities autoimmune interstitial lung disease juvenile-onset arthritis primary hypothyroidism Tags
Green Green List (high evidence)	STAT3 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT3 Hyper-IgE syndrome v1.5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Hyper-IgE recurrent infection syndrome MIM# 147060 NKT cells decreased Very high IgE, specific antibody production decreased Distinctive facial features (broad nasal bridge) bacterial infections staphylococcal abscesses eczema mucocutaneous candidiasis hyperextensible joints osteoporosis and bone fractures scoliosis retained primary teeth coronary and cerebral aneurysms Tags
Green Green List (high evidence)	STAT4 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Disabling pansclerotic morphea of childhood MIM#620443 Tags
Green Green List (high evidence)	STAT5B Combined Immunodeficiency v1.66	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity with immunodeficiency, MIM# 245590 Tags somatic
Green Green List (high evidence)	STAT6 Disorders of immune dysregulation v0.186	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Tags
Green Green List (high evidence)	STIM1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 10, MIM# 612783 Tags
Green Green List (high evidence)	STK4 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868 CD4/CD8 lymphopaenia cardiac malformations reduced naïve T cells increased TEM and TEMRA cells poor T cell Proliferation Reduced memory B cells Reduced IgM, increased IgG, IgA, IgE impaired antibody responses intermittent neutropaenia bacterial/ viral/ fungal infections autoimmune cytopaenias mucocutaneous candidiasis cutaneous warts Tags
Green Green List (high evidence)	STX11 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Tags
Green Green List (high evidence)	STXBP2 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STXBP2 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STXBP3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Very Early Onset Inflammatory Bowel Disease Bilateral Sensorineural Hearing Loss Immune Dysregulation Tags
Green Green List (high evidence)	STXBP3 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Very Early Onset Inflammatory Bowel Disease Bilateral Sensorineural Hearing Loss Immune Dysregulation Tags
Green Green List (high evidence)	SYK Disorders of immune dysregulation v0.186	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Tags
Green Green List (high evidence)	TAP1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type I MIM#604571 Low CD8 absent MHC I on lymphocytes vasculitis pyoderma gangrenosum skin lesions recurrent respiratory tract infections bronchiectasis Tags
Green Green List (high evidence)	TAP2 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes MHC class I deficiency 2, MIM# 620813 Bare lymphocyte syndrome, type I, due to TAP2 deficiency MIM# 604571 Low CD8 absent MHC I on lymphocytes Vasculitis pyoderma gangrenosum recurrent bacterial/viral respiratory infections bronchiectasis Tags
Green Green List (high evidence)	TAZ Phagocyte Defects v1.29	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TBCE Combined Immunodeficiency v1.66	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Tags
Green Green List (high evidence)	TBK1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency, MONDO:0021094, TBK1-related, AR Autoinflammation Tags
Green Green List (high evidence)	TBK1 Defects of innate immunity v0.134	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TBK1 Susceptibility to Viral Infections v0.117	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hereditary predisposition to infections, MONDO:0015979, TBK1-related Tags
Green Green List (high evidence)	TBX1 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Decreased T cells Hypoparathyroidism Conotruncal cardiac malformation velopalatal insufficiency abnormal facies (cleft palate, prominent tubular nose etc) intellectual disability Immunodeficiency thymic hypoplasia or aplasia with resultant T‐cell dysfunction renal anomalies autoimmunity Tags SV/CNV
Green Green List (high evidence)	TCF3 Predominantly Antibody Deficiency v0.135	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Tags
Green Green List (high evidence)	TCF3 Common Variable Immunodeficiency v1.12	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Tags
Green Green List (high evidence)	TCIRG1 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 1 MIM#259700 Tags
Green Green List (high evidence)	TCN2 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Transcobalamin II deficiency MIM# 275350 Decreased Ig levels Megaloblastic anaemia pancytopaenia if untreated (B12) for prolonged periods results in intellectual disability failure to thrive diarrhoea hypogammaglobulinaemia pallor hypotonia respiratory infection Tags
Green Green List (high evidence)	TET2 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immune dysregulation Lymphoma Immunodeficiency-75 (IMD75), MIM#619126 Tags
Green Green List (high evidence)	TGFBR1 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Loeys-Dietz syndrome 1 MIM#609192 Tags
Green Green List (high evidence)	TGFBR1 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TGFBR2 Combined Immunodeficiency v1.66	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Loeys-Dietz syndrome 2 MIM#610168 Tags
Green Green List (high evidence)	TGFBR2 Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TICAM1 Susceptibility to Viral Infections v0.117	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850 Tags
Green Green List (high evidence)	TICAM1 Defects of innate immunity v0.134	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TLR3 Defects of innate immunity v0.134	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TLR3 Susceptibility to Viral Infections v0.117	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002 Tags
Green Green List (high evidence)	TLR7 Susceptibility to Viral Infections v0.117	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 Tags
Green Green List (high evidence)	TLR7 Disorders of immune dysregulation v0.186	1 review 1 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 Expert list Phenotypes Systemic lupus erythematosus 17, MIM# 301080 Tags
Green Green List (high evidence)	TLR8 Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags somatic
Green Green List (high evidence)	TLR8 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome MONDO:0019751, TLR8-associated Tags
Green Green List (high evidence)	TMC6 Susceptibility to Viral Infections v0.117	1 review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TMC6 Defects of innate immunity v0.134	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TMC8 Susceptibility to Viral Infections v0.117	1 review 1 green	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TMC8 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Epidermodysplasia verruciformis 2, MIM# 618231 Tags
Green Green List (high evidence)	TMEM173 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Green Green List (high evidence)	TMEM173 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TNFAIP3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744 Tags
Green Green List (high evidence)	TNFAIP3 Inflammatory bowel disease v0.121	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inflammatory bowel disease Crohn's disease Autoinflammatory syndrome, familial, Behcet-like Tags
Green Green List (high evidence)	TNFRSF11A Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 7 MIM#612301 Tags
Green Green List (high evidence)	TNFRSF13B Common Variable Immunodeficiency v1.12	2 reviews 1 green	Other	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 2, MIM# 240500 Tags
Green Green List (high evidence)	TNFRSF13B Predominantly Antibody Deficiency v0.135	1 review 1 green	Other	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 2, MIM# 240500 Tags
Green Green List (high evidence)	TNFRSF1A Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Periodic fever, familial, MIM# 142680 Tags
Green Green List (high evidence)	TNFRSF9 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 109 with lymphoproliferation, MIM# 620282 EBV lymphoproliferation B-cell lymphoma Chronic active EBV infection Tags
Green Green List (high evidence)	TNFRSF9 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 109 with lymphoproliferation, MIM# 620282 Tags
Green Green List (high evidence)	TNFSF11 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 2 MIM#259710 Tags
Green Green List (high evidence)	TOP2B Predominantly Antibody Deficiency v0.135	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Antibody deficiency Recurrent infections Facial dysmorphism Limb anomalies Tags
Green Green List (high evidence)	TPP2 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRAF3 Disorders of immune dysregulation v0.186	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Autoinflammatory syndrome, TRAF3-related, MONDO:0019751 hypergammaglobulinemia lymphadenopathy splenomegaly, Sjögren’s syndrome Tags
Green Green List (high evidence)	TREX1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes {Systemic lupus erythematosus, susceptibility to} 152700 Aicardi-Goutieres syndrome 1, dominant and recessive 225750 Tags
Green Green List (high evidence)	TREX1 Disorders of immune dysregulation v0.186	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TRIM22 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Inflammatory bowel disease Tags
Green Green List (high evidence)	TRNT1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	TRNT1 Common Variable Immunodeficiency v1.12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 Tags
Green Green List (high evidence)	TRNT1 Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TTC37 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Respiratory infections IUGR Facial dysmorphic features Wooly hair:Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities Tags
Green Green List (high evidence)	TTC37 Common Variable Immunodeficiency v1.12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, MIM# 222470 Respiratory infections IUGR Facial dysmorphic features Wooly hair:Early-onset intractable diarrhoea Liver cirrhosis Platelet abnormalities Tags
Green Green List (high evidence)	TTC37 Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TTC37 Inflammatory bowel disease v0.121	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Trichohepatoenteric syndrome 1, MIM#222470 Colitis Pancolitis Inflammatory bowel disease-like phenotype Very Early Onset Inflammatory Bowel Disease Tags
Green Green List (high evidence)	TTC7A Inflammatory bowel disease v0.121	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Very Early Onset Inflammatory Bowel Disease (VEOIBD) Tags
Green Green List (high evidence)	TTC7A Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Tags
Green Green List (high evidence)	TYK2 Mendelian susceptibility to Immune Disorders v0.49	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 35, MIM# 611521 Tags
Green Green List (high evidence)	TYK2 Defects of innate immunity v0.134	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 35, MIM# 611521 Tags
Green Green List (high evidence)	TYK2 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Immunodeficiency 35, MIM# 611521 Tags
Green Green List (high evidence)	UBA1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	Other	Sources Expert Review Green Literature Phenotypes Autoinflammatory disease, adult onset VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054 Tags somatic
Green Green List (high evidence)	UNC13D Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Green Green List (high evidence)	UNG Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	USB1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Poikiloderma with neutropaenia, MIM# 604173 MONDO:0011405 Tags
Green Green List (high evidence)	USP18 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Pseudo-TORCH syndrome 2, MIM# 617397 Tags
Green Green List (high evidence)	VPS13B Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Cohen syndrome, MIM# 216550 Tags
Green Green List (high evidence)	VPS45 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags treatable
Green Green List (high evidence)	WAS Hyper-IgE syndrome v1.5	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Thrombocytopaenia, X-linked, MIM# 313900 Tags
Green Green List (high evidence)	WAS Phagocyte Defects v1.29	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, X-linked, MIM# 300299 Tags
Green Green List (high evidence)	WAS Inflammatory bowel disease v0.121	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	WAS Predominantly Antibody Deficiency v0.135	0 reviews	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	WAS Combined Immunodeficiency v1.66	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Neutropaenia, severe congenital, X-linked MIM# 300299 Wiskott-Aldrich syndrome MIM# 301000 Thrombocytopaenia, X-linked MIM# 313900 Tags
Green Green List (high evidence)	WDR1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Tags
Green Green List (high evidence)	WDR1 Phagocyte Defects v1.29	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Neutropaenia Poor wound healing Severe stomatitis Neutrophil nuclei herniate Autoinflammatory periodic fever Thrombocytopaenia Tags
Green Green List (high evidence)	WIPF1 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome 2 MIM# 614493 Reduced T cells defective lymphocyte responses to anti-CD3 high IgE Thrombocytopenia with or without small platelets recurrent bacterial and viral Infections eczema bloody diarrhoea gastrointestinal bleeding WAS protein absent Tags
Green Green List (high evidence)	WIPF1 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Wiskott-Aldrich syndrome 2 MIM# 614493 Reduced T cells defective lymphocyte responses to anti-CD3 high IgE Thrombocytopenia with or without small platelets recurrent bacterial and viral Infections eczema bloody diarrhoea gastrointestinal bleeding WAS protein absent Tags
Green Green List (high evidence)	WIPF1 Predominantly Antibody Deficiency v0.135	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome 2 MIM# 614493 Reduced T cells defective lymphocyte responses to anti-CD3 high IgE Thrombocytopenia with or without small platelets recurrent bacterial and viral Infections eczema bloody diarrhoea gastrointestinal bleeding WAS protein absent Tags
Green Green List (high evidence)	XIAP Disorders of immune dysregulation v0.186	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags treatable
Green Green List (high evidence)	XIAP Susceptibility to Viral Infections v0.117	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome, X-linked, 2 300635 Host response to EBV Tags
Green Green List (high evidence)	XIAP Predominantly Antibody Deficiency v0.135	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags
Green Green List (high evidence)	XIAP Inflammatory bowel disease v0.121	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes X-linked lymphoproliferative syndrome 2 inflammatory bowel disease colitis Tags
Green Green List (high evidence)	ZAP70 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 48, MIM# 269840 Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Tags
Green Green List (high evidence)	ZAP70 Disorders of immune dysregulation v0.186	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Tags
Green Green List (high evidence)	ZBTB24 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM# 614069 Facial dysmorphic features developmental delay macroglossia bacterial/opportunistic infections malabsorption cytopaenia malignancies multiradial configurations of chromosomes 1, 9, 16 Hypogammaglobulinaemia or agammaglobulinaemia variable antibody deficiency Tags
Green Green List (high evidence)	ZNF341 Hyper-IgE syndrome v1.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Mild facial dysmorphism Early onset eczema Recurrent bacterial skin infections, abscesses Recurrent respiratory infections, lung abscesses and pneumothoraces Hyperextensible joints, bone fractures, retention of primary teeth Tags
Green Green List (high evidence)	ZNF341 Combined Immunodeficiency v1.66	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282 Mild facial dysmorphism Early onset eczema Recurrent bacterial skin infections, abscesses Recurrent respiratory infections, lung abscesses and pneumothoraces Hyperextensible joints, bone fractures, retention of primary teeth Tags
Green Green List (high evidence)	ZNFX1 Susceptibility to Viral Infections v0.117	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Green Green List (high evidence)	ZNFX1 Mendelian susceptibility to Immune Disorders v0.49	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Green Green List (high evidence)	ZNFX1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Amber Amber List (moderate evidence)	ACTB Phagocyte Defects v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1, MIM# 243310 Tags
Amber Amber List (moderate evidence)	ALPI Inflammatory bowel disease v0.121	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease, MONDO:0005265, ALPI-related Tags
Amber Amber List (moderate evidence)	ANGPT1 Hereditary angioedema v1.5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Hereditary angioedema-5 (HAE5), MIM#619361 Tags
Amber Amber List (moderate evidence)	AP1S3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Psoriasis 15, pustular, susceptibility to} 616106 Tags
Amber Amber List (moderate evidence)	ARHGEF1 Common Variable Immunodeficiency v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Tags
Amber Amber List (moderate evidence)	BLK Common Variable Immunodeficiency v1.12	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes common variable immunodeficiency Tags
Amber Amber List (moderate evidence)	C17orf62 Inflammatory bowel disease v0.121	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Chronic granulomatous disease Tags
Amber Amber List (moderate evidence)	C4A Complement Deficiencies v0.73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C4a deficiency MIM#614380 susceptibility systemic lupus erythematosus Tags for review SV/CNV
Amber Amber List (moderate evidence)	C4B Complement Deficiencies v0.73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes susceptibility to autoimmune disease C4B deficiency MIM#614379 Tags SV/CNV
Amber Amber List (moderate evidence)	C8A Complement Deficiencies v0.73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C8 deficiency, type I MIM#613790 Tags
Amber Amber List (moderate evidence)	CARD8 Inflammatory bowel disease v0.121	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease-30, MIM#619079 Tags
Amber Amber List (moderate evidence)	CASP8 Disorders of immune dysregulation v0.186	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Amber Amber List (moderate evidence)	CD28 Susceptibility to Viral Infections v0.117	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary predisposition to infections, MONDO:0015979, CD28-related isolated susceptibility to cutaneous α- and γ-HPVs Tags
Amber Amber List (moderate evidence)	CD8A Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes CD8 deficiency, familial, MIM# 608957 Tags
Amber Amber List (moderate evidence)	CEBPE Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 108 with autoinflammation , MIM# 260570 Tags
Amber Amber List (moderate evidence)	CFB Complement Deficiencies v0.73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Complement factor B deficiency, MIM# 615561 Tags
Amber Amber List (moderate evidence)	CHUK Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined immunodeficiency, MONDO:0015131, CHUK-related Tags
Amber Amber List (moderate evidence)	COPG1 Combined Immunodeficiency v1.66	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined immunodeficiency MONDO:0015131, COPG1-related Tags
Amber Amber List (moderate evidence)	CTNNBL1 Common Variable Immunodeficiency v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846 Tags
Amber Amber List (moderate evidence)	DOCK2 Disorders of immune dysregulation v0.186	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Tags
Amber Amber List (moderate evidence)	EPCAM Inflammatory bowel disease v0.121	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217 Tags
Amber Amber List (moderate evidence)	ERBIN Combined Immunodeficiency v1.66	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Combined immunodeficiency, MONDO:0015131, ERBIN-related Recurrent respiratory infections Susceptibility to S.aureus Eczema Hyperextensible joints Scoliosis Arterial dilatation in some Tags
Amber Amber List (moderate evidence)	FCGR3A Susceptibility to Viral Infections v0.117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 20, MIM# 615707 Tags
Amber Amber List (moderate evidence)	FCGR3A Defects of innate immunity v0.134	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 20, MIM# 615707 Tags
Amber Amber List (moderate evidence)	FCN3 Complement Deficiencies v0.73	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 Tags
Amber Amber List (moderate evidence)	FGL2 Disorders of immune dysregulation v0.186	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, FGL2-related Tags
Amber Amber List (moderate evidence)	GATA3 Disorders of immune dysregulation v0.186	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Immune dysregulation Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Tags
Amber Amber List (moderate evidence)	HCK Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Tags
Amber Amber List (moderate evidence)	HSPA1L Inflammatory bowel disease v0.121	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes inflammatory bowel disease, MONDO:0005265, HSPA1L-related Tags
Amber Amber List (moderate evidence)	ICOSLG Common Variable Immunodeficiency v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Combined immunodeficiency recurrent bacterial and viral infections neutropaenia Tags
Amber Amber List (moderate evidence)	ICOSLG Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 119, MIM# 620825 Combined immunodeficiency recurrent bacterial and viral infections neutropaenia Tags
Amber Amber List (moderate evidence)	IL21 Inflammatory bowel disease v0.121	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Immunodeficiency, common variable, 11, MIM# 615767 Tags
Amber Amber List (moderate evidence)	IL27RA Susceptibility to Viral Infections v0.117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Tags
Amber Amber List (moderate evidence)	IL6R Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Recurrent pyogenic infections, cold abscesses High circulating IL-6 levels High IgE IgE recurrent infection syndrome, MIM#618944 Tags
Amber Amber List (moderate evidence)	INO80 Predominantly Antibody Deficiency v0.135	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Primary immunodeficiency, MONDO:0003778 Tags
Amber Amber List (moderate evidence)	IRF3 Susceptibility to Viral Infections v0.117	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532 Tags
Amber Amber List (moderate evidence)	IRF9 Susceptibility to Viral Infections v0.117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 65, susceptibility to viral infections 618648 Tags
Amber Amber List (moderate evidence)	JAK1 Defects of innate immunity v0.134	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Susceptibility to mycobacteria and viruses Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Amber Amber List (moderate evidence)	KMT2A Combined Immunodeficiency v1.66	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Wiedemann-Steiner syndrome MIM#605130 Tags
Amber Amber List (moderate evidence)	KNG1 Hereditary angioedema v1.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Hereditary angioedema-6 (HAE6), MIM#619363 Tags
Amber Amber List (moderate evidence)	LAMTOR2 Phagocyte Defects v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Tags
Amber Amber List (moderate evidence)	LCP1 Combined Immunodeficiency v1.66	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bone marrow failure syndrome, MONDO:0000159, LCP1-related Tags
Amber Amber List (moderate evidence)	LCP2 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 81, MIM# 619374 Severe combined immunodeficiency Tags
Amber Amber List (moderate evidence)	MADD Disorders of immune dysregulation v0.186	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes HLH, enteropathy Tags
Amber Amber List (moderate evidence)	MAPK8 Mendelian susceptibility to Immune Disorders v0.49	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Chronic mucocutaneous candidiasis Connective tissue disorders Tags
Amber Amber List (moderate evidence)	MCM10 Susceptibility to Viral Infections v0.117	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313 Susceptibility to CMV Tags
Amber Amber List (moderate evidence)	MCM4 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 54 MIM# 609981 Decreased NK cell number and function Viral infections (EBV, HSV, VZV) Short stature B cell lymphoma Adrenal failure Failure to thrive Microcephaly Increased chromosomal breakage Hyperpigmentation Lymphadenopathy Tags founder
Amber Amber List (moderate evidence)	MKL1 Phagocyte Defects v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neutropaenia with combined immune deficiency Tags
Amber Amber List (moderate evidence)	MS4A1 Common Variable Immunodeficiency v1.12	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 5, MIM# 613495 Tags
Amber Amber List (moderate evidence)	NFAT5 Disorders of immune dysregulation v0.186	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immune deficiency disease, MONDO:0003778, NFAT5-related Recurrent infections Autoimmune enterocolopathy EBV susceptibility HLH Tags
Amber Amber List (moderate evidence)	NFATC1 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inborn error of immunity, MONDO:0003778, NFATC1-related Combined Immune deficiency Tags
Amber Amber List (moderate evidence)	NLRC4 Inflammatory bowel disease v0.121	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Autoinflammation with infantile enterocolitis, MIM# 616050 Tags
Amber Amber List (moderate evidence)	NOX1 Inflammatory bowel disease v0.121	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Inflammatory bowel disease, MONDO:0005265, NOX1-related Tags
Amber Amber List (moderate evidence)	NSMCE3 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Tags
Amber Amber List (moderate evidence)	PAX5 Predominantly Antibody Deficiency v0.135	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PAX5-related Hypogammaglobulinaemia Tags
Amber Amber List (moderate evidence)	PI4KA Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Tags
Amber Amber List (moderate evidence)	PIK3CG Predominantly Antibody Deficiency v0.135	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 97 with autoinflammation, MIM# 619802 Humoral deficiency Immune dysregulation HLH Tags
Amber Amber List (moderate evidence)	PLCG1 Disorders of immune dysregulation v0.186	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Tags
Amber Amber List (moderate evidence)	PMS2 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mismatch repair cancer syndrome, MIM# 276300 Tags
Amber Amber List (moderate evidence)	PMVK Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Autoinflammatory syndrome, MONDO:0019751, PMVK-related Tags
Amber Amber List (moderate evidence)	POLD2 Combined Immunodeficiency v1.66	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Non-severe combined immunodeficiency due to polymerase delta deficiency MONDO:0800145 Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum short stature intellectual disability Tags
Amber Amber List (moderate evidence)	POLR3A Susceptibility to Viral Infections v0.117	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Severe VZV infection Tags
Amber Amber List (moderate evidence)	POLR3C Susceptibility to Viral Infections v0.117	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Severe VZV infection Tags
Amber Amber List (moderate evidence)	PSMA3 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 Tags
Amber Amber List (moderate evidence)	PSMB4 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Tags
Amber Amber List (moderate evidence)	PTPN2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Lupus arthritis common variable immunodeficiency Tags
Amber Amber List (moderate evidence)	RAC2 Common Variable Immunodeficiency v1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Common variable immunodeficiency Tags
Amber Amber List (moderate evidence)	RC3H1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Relapsing HLH Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998 Tags
Amber Amber List (moderate evidence)	REL Combined Immunodeficiency v1.66	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 92, MIM# 619652 Combined immunodeficiency T cells: normal, decreased memory CD4, poor proliferation B cells: low, mostly naive, few switched memory B cells, impaired proliferation Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms Defective innate immunity Tags
Amber Amber List (moderate evidence)	RELB Combined Immunodeficiency v1.66	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 53, MIM# 617585 T cells: normal number, poor diversity, poor function recurrent infections Tags
Amber Amber List (moderate evidence)	RHOG Disorders of immune dysregulation v0.186	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Genetic HLH, MONDO:0015541, RHOG-related Tags
Amber Amber List (moderate evidence)	RIPK3 Susceptibility to Viral Infections v0.117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Recurrent HSV encephalitis Tags
Amber Amber List (moderate evidence)	RNF31 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Amber Amber List (moderate evidence)	RNF31 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Amber Amber List (moderate evidence)	SCGN Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ulcerative colitis, MONDO:0005101 Tags
Amber Amber List (moderate evidence)	SLC19A1 Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined immunodeficiency, SLC19A1-related MONDO:0015131 Tags
Amber Amber List (moderate evidence)	SLC9A3 Inflammatory bowel disease v0.121	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Diarrhoea 8, secretory sodium, congenital 616868 Very Early Onset Inflammatory Bowel Disease Tags
Amber Amber List (moderate evidence)	SPPL2A Defects of innate immunity v0.134	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 86, MIM#619549 Susceptibility to mycobacteria and Salmonella Tags
Amber Amber List (moderate evidence)	SPPL2A Mendelian susceptibility to Immune Disorders v0.49	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 86, MIM#619549 Tags
Amber Amber List (moderate evidence)	SRP19 Phagocyte Defects v1.29	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neutropenia, MONDO:0001475, SRP19-related Tags
Amber Amber List (moderate evidence)	SRP68 Phagocyte Defects v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534 Tags
Amber Amber List (moderate evidence)	SRPRA Phagocyte Defects v1.29	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Tags
Amber Amber List (moderate evidence)	TBX21 Defects of innate immunity v0.134	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 88, MIM# 619630 Susceptibility to mycobacterial disease Tags
Amber Amber List (moderate evidence)	TBX21 Mendelian susceptibility to Immune Disorders v0.49	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency 88, MIM# 619630 Tags
Amber Amber List (moderate evidence)	TCIRG1 Phagocyte Defects v1.29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes severe congenital neutropenia, MONDO:0018542 Tags
Amber Amber List (moderate evidence)	TERC Combined Immunodeficiency v1.66	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags
Amber Amber List (moderate evidence)	TERT Combined Immunodeficiency v1.66	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989 {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Tags
Amber Amber List (moderate evidence)	TFRC Combined Immunodeficiency v1.66	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 46, MIM# 616740 T cells: normal number, poor proliferation B cells: normal number, low memory B cells recurrent infections, neutorpaenia thrombocytopaenia Tags
Amber Amber List (moderate evidence)	TGFB1 Inflammatory bowel disease v0.121	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Tags
Amber Amber List (moderate evidence)	TGFB1 Disorders of immune dysregulation v0.186	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213 Tags
Amber Amber List (moderate evidence)	TINF2 Combined Immunodeficiency v1.66	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Amber Amber List (moderate evidence)	TNFRSF13C Predominantly Antibody Deficiency v0.135	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 4, MIM# 613494 Tags
Amber Amber List (moderate evidence)	TNFRSF13C Common Variable Immunodeficiency v1.12	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 4, MIM# 613494 Tags
Amber Amber List (moderate evidence)	TRAC Combined Immunodeficiency v1.66	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Tags founder
Amber Amber List (moderate evidence)	TRAF3IP2 Defects of innate immunity v0.134	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 8, MIM# 615527 Tags
Amber Amber List (moderate evidence)	TRAF3IP2 Susceptibility to Fungal Infections v1.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 8, MIM# 615527 Tags
Amber Amber List (moderate evidence)	UNC93B1 Defects of innate immunity v0.134	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Tags
Amber Amber List (moderate evidence)	UNC93B1 Susceptibility to Viral Infections v0.117	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Tags
Amber Amber List (moderate evidence)	WIPF1 Phagocyte Defects v1.29	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Wiskott-Aldrich syndrome 2, MIM# 614493 Tags
Amber Amber List (moderate evidence)	ZAP70 Inflammatory bowel disease v0.121	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Autoimmune disease, multisystem, infantile-onset, 2 inflammatory colitis Tags
Red Red List (low evidence)	APOL1 Defects of innate immunity v0.134	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 Tags
Red Red List (low evidence)	ARHGEF1 Predominantly Antibody Deficiency v0.135	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immunodeficiency 62, MIM#618459 Tags
Red Red List (low evidence)	C8G Complement Deficiencies v0.73	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CARD10 Disorders of immune dysregulation v0.186	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Immunodeficiency 89 and autoimmunity, MIM# 619632 Tags
Red Red List (low evidence)	CASP4 Defects of innate immunity v0.134	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hereditary susceptibility to infection, MONDO:0015979, CASP4-related Susceptibility to meliodiosis Tags
Red Red List (low evidence)	CFHR1 Complement Deficiencies v0.73	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CFHR2 Complement Deficiencies v0.73	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Tags SV/CNV
Red Red List (low evidence)	CFHR3 Complement Deficiencies v0.73	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400 Tags
Red Red List (low evidence)	CFHR4 Complement Deficiencies v0.73	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	CFHR5 Complement Deficiencies v0.73	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Nephropathy due to CFHR5 deficiency, MIM# 614809 Tags
Red Red List (low evidence)	CLEC7A Susceptibility to Fungal Infections v1.7	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Candidiasis, familial, 4, autosomal recessive MIM#613108 {Aspergillosis, susceptibility to} , MIM#614079 Mucocutaneous candidiasis Tags
Red Red List (low evidence)	COL7A1 Inflammatory bowel disease v0.121	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa dystrophica, AR, MIM# 226600 Tags
Red Red List (low evidence)	CRACR2A Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated late onset combined immunodeficiency Tags
Red Red List (low evidence)	DCLRE1B Combined Immunodeficiency v1.66	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome Tags
Red Red List (low evidence)	ERCC2 Hyper-IgE syndrome v1.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Trichothiodystrophy 1, photosensitive, MIM# 601675 Xeroderma pigmentosum, group D 27, MIM#8730 Tags
Red Red List (low evidence)	ERCC3 Hyper-IgE syndrome v1.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Trichothiodystrophy 2, photosensitive, MIM# 616390 Xeroderma pigmentosum, group B 61, MIM#0651 Tags
Red Red List (low evidence)	FAAP24 Disorders of immune dysregulation v0.186	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related Tags
Red Red List (low evidence)	FBXW11 Systemic Autoinflammatory Disease_Periodic Fever v1.47	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Autoinflammatory disorder MONDO:0019751, FBXW11-related Tags
Red Red List (low evidence)	FERMT1 Inflammatory bowel disease v0.121	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Kindler syndrome, MIM# 173650 Tags
Red Red List (low evidence)	FMNL2 Inflammatory bowel disease v0.121	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes inflammatory bowel disease, MONDO:0005265, FMNL2-related Tags
Red Red List (low evidence)	FPR1 Phagocyte Defects v1.29	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Periodontitis Tags
Red Red List (low evidence)	FUT2 Susceptibility to Viral Infections v0.117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Norwalk virus infection, resistance to Tags
Red Red List (low evidence)	GTF2H5 Hyper-IgE syndrome v1.5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Phenotypes Trichothiodystrophy 3, photosensitive, MIM# 616395 Tags
Red Red List (low evidence)	HS3ST6 Hereditary angioedema v1.5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Hereditary angioedema-8 (HAE8), MIM#619367 Tags
Red Red List (low evidence)	IFNG Mendelian susceptibility to Immune Disorders v0.49	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Mendelian susceptibility to mycobacterial disease Immunodeficiency 69, MIM#618963 Tags
Red Red List (low evidence)	IL12RB2 Defects of innate immunity v0.134	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Susceptibility to mycobacteria and Salmonella Tags
Red Red List (low evidence)	IL17F Susceptibility to Fungal Infections v1.7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Tags
Red Red List (low evidence)	IL17F Defects of innate immunity v0.134	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Tags
Red Red List (low evidence)	IL18BP Susceptibility to Viral Infections v0.117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes {?Hepatitis, fulminant viral, susceptibility to} 618549 Tags
Red Red List (low evidence)	IL1R1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Chronic recurrent multifocal osteomyelitis 3, MIM# 259680 Tags
Red Red List (low evidence)	IL21 Combined Immunodeficiency v1.66	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 11, MIM# 615767 Tags
Red Red List (low evidence)	IL21 Common Variable Immunodeficiency v1.12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immunodeficiency, common variable, 11 MIM#615767 Tags
Red Red List (low evidence)	IL37 Inflammatory bowel disease v0.121	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398 Tags
Red Red List (low evidence)	IL6ST Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750 Tags
Red Red List (low evidence)	IRAK1 Defects of innate immunity v0.134	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Susceptibility to bacterial infections Tags SV/CNV
Red Red List (low evidence)	ITGAM Complement Deficiencies v0.73	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	ITPKB Severe Combined Immunodeficiency (absent T present B cells) v1.6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Severe combined immunodeficiency, absent T cells, present B cells and NK cells Tags
Red Red List (low evidence)	LY96 Inflammatory bowel disease v0.121	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inborn error of immunity, MONDO:0003778, LY96-related Colitis Tags
Red Red List (low evidence)	MAN2B2 Combined Immunodeficiency v1.66	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related Combined Immune deficiency Tags
Red Red List (low evidence)	MAP1LC3B2 Defects of innate immunity v0.134	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related Mollaret’s meningitis (recurrent lymphocytic meningitis) due to HSV2 Tags
Red Red List (low evidence)	MASP2 Complement Deficiencies v0.73	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes MASP2 deficiency, MIM# 613791 Tags
Red Red List (low evidence)	MS4A1 Predominantly Antibody Deficiency v0.135	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency, common variable, 5, MIM# 613495 Tags
Red Red List (low evidence)	MSH6 Predominantly Antibody Deficiency v0.135	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Mismatch repair cancer syndrome 3 MIM#619097 constitutional mismatch repair deficiency immunodeficiency Tags
Red Red List (low evidence)	MYOF Hereditary angioedema v1.5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Hereditary angioedema-7 (HAE7), MIM#619366 Tags
Red Red List (low evidence)	NFKBID Hyper-IgE syndrome v1.5	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Tags
Red Red List (low evidence)	NFKBID Common Variable Immunodeficiency v1.12	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NFKBID Predominantly Antibody Deficiency v0.135	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NFKBID Combined Immunodeficiency v1.66	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NLRP1 Susceptibility to Viral Infections v0.117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Recurrent respiratory papillomatosis Tags
Red Red List (low evidence)	NOP10 Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Tags
Red Red List (low evidence)	NOS2 Susceptibility to Viral Infections v0.117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Disseminated CMV disease Tags
Red Red List (low evidence)	PDCD1 Disorders of immune dysregulation v0.186	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Complex Autoimmunity Inborn errors of immunity, MONDO:0003778 Tags
Red Red List (low evidence)	PMM2 Inflammatory bowel disease v0.121	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital disorder of glycosylation, type Ia, MIM# 212065 Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease Tags
Red Red List (low evidence)	POLE2 Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Combined immunodeficiency Lymphopaenia Lack of TRECS, absent proliferation in response to antigens Hypoglobulinaemia Recurrent infections, disseminated BCG infections Autoimmunity Facial dysmorphism Tags
Red Red List (low evidence)	POLR3F Susceptibility to Viral Infections v0.117	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Tags
Red Red List (low evidence)	POU2AF1 Predominantly Antibody Deficiency v0.135	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Agammaglobulinaemia, MONDO:0015977, POU2AF1-related Tags
Red Red List (low evidence)	PSMA5 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 red	Other	Sources Expert Review Red Literature Phenotypes Inborn error of immunity, MONDO:0003778, PSMA5-related PRAAS/CANDLE Tags
Red Red List (low evidence)	PSMG2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Proteasome-associated autoinflammatory syndrome 4, MIM# 619183 CANDLE syndrome Chronic atypical neutrophilic dermatitis with lipodystrophy Tags
Red Red List (low evidence)	PTEN Inflammatory bowel disease v0.121	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Colitis Tags
Red Red List (low evidence)	RGS10 Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immunodeficiency short stature Tags
Red Red List (low evidence)	RHOH Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Tags
Red Red List (low evidence)	SEMA3E Combined Immunodeficiency v1.66	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes CHARGE syndrome, MIM# 214800 Tags
Red Red List (low evidence)	SH3BP2 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Cherubism, MIM# 118400 Tags
Red Red List (low evidence)	SH3KBP1 Predominantly Antibody Deficiency v0.135	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Phenotypes Immunodeficiency 61, MIM# 300310 Tags SV/CNV
Red Red List (low evidence)	SIRT1 Systemic Autoinflammatory Disease_Periodic Fever v1.47	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autoimmune disease, MONDO:0007179, SIRT1-related Tags
Red Red List (low evidence)	TAOK2 Susceptibility to Viral Infections v0.117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Generalized verrucosis abnormal T cell activation Tags
Red Red List (low evidence)	TAPBP Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Bare lymphocyte syndrome, type I, MIM# 604571 MHC class I deficiency 3, MIM# 620814 Tags SV/CNV
Red Red List (low evidence)	THBD Complement Deficiencies v0.73	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 Tags
Red Red List (low evidence)	TIRAP Defects of innate immunity v0.134	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Staphylococcal disease during childhood Tags
Red Red List (low evidence)	TKFC Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inborn error of immunity, MONDO:0003778, TKFC-related Tags
Red Red List (low evidence)	TNFRSF4 Susceptibility to Viral Infections v0.117	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Immunodeficiency 16, MIM# 615593 Tags
Red Red List (low evidence)	TNFRSF4 Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 16, MIM# 615593 Tags
Red Red List (low evidence)	TNFSF12 Predominantly Antibody Deficiency v0.135	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Recurrent infections, poor antibody responses, decreased immunoglobulins Tags
Red Red List (low evidence)	TNFSF12 Common Variable Immunodeficiency v1.12	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Recurrent infections, poor antibody responses, decreased immunoglobulins Tags
Red Red List (low evidence)	TNFSF13 Predominantly Antibody Deficiency v0.135	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related Tags
Red Red List (low evidence)	TOM1 Combined Immunodeficiency v1.66	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Immunodeficiency 85 and autoimmunity, MIM# 619510 Tags
Red Red List (low evidence)	TPP1 Combined Immunodeficiency v1.66	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Hoyeraal-Hreidarsson syndrome Tags
Red Red List (low evidence)	TRAF3 Susceptibility to Viral Infections v0.117	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Tags
Red Red List (low evidence)	TRAF3 Defects of innate immunity v0.134	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Tags
Red Red List (low evidence)	TRIM69 Susceptibility to Viral Infections v0.117	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Susceptibility to herpes simplex encephalitis Tags
Red Red List (low evidence)	UNC119 Combined Immunodeficiency v1.66	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes ?Immunodeficiency 13 MIM#615518 Tags
Red Red List (low evidence)	VAV1 Common Variable Immunodeficiency v1.12	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Common variable immnodeficiency Tags
No list No list	ELF4 Inflammatory bowel disease v0.121	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Inflammatory bowel disease Tags
No list No list	NUDCD3 Severe Combined Immunodeficiency (absent T absent B cells) v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Severe combined immunodeficiency omenn syndrome Tags
No list No list	USP18 Mendelian susceptibility to Immune Disorders v0.49	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Susceptibility to mycobacterial disease Tags

Immunological disorders_SuperPanel (Version 9.284)

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