Immunological disorders_SuperPanel (Version 15.329)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1016 Entitiess
Green Green List (high evidence)	ABCB7 Bone Marrow Failure v2.9	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ACD Bone Marrow Failure v2.9	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations telomere syndrome MONDO:0100137 dyskeratosis congenita, autosomal dominant 6 MONDO:0014690 Hoyeraal-Hreidarsson syndrome MONDO:0018045 Tags
Green Green List (high evidence)	ACP5 Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations 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 v2.11	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ACTB Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green Green List (high evidence)	ADA Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Green Green List (high evidence)	ADA Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Severe combined immunodeficiency due to ADA deficiency, MIM# 102700 MONDO:0007064 Tags
Green Green List (high evidence)	ADA Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ADA2 Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 common variable immunodeficiency Tags
Green Green List (high evidence)	ADA2 Disorders of immune dysregulation v2.11	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ADA2 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688 Tags
Green Green List (high evidence)	ADA2 Bone Marrow Failure v2.9	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags founder
Green Green List (high evidence)	ADA2 Autoinflammatory Disorders v3.17	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags
Green Green List (high evidence)	ADAM17 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections Tags
Green Green List (high evidence)	ADAM17 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328 Recurrent infections Tags
Green Green List (high evidence)	ADAR Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 6, MIM# 615010 Tags
Green Green List (high evidence)	ADAR Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ADH5 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations AMED syndrome, digenic, MIM# 619151 Aplastic anaemia myelodysplasia short stature Tags
Green Green List (high evidence)	AICDA Predominantly Antibody Deficiency v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Tags
Green Green List (high evidence)	AICDA Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AIRE Disorders of immune dysregulation v2.11	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 Disease associations Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green Green List (high evidence)	AIRE Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Disease associations Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia Tags
Green Green List (high evidence)	AK2 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Reticular dysgenesis MIM# 267500 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness MONDO:0009973 Tags treatable
Green Green List (high evidence)	AK2 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags treatable
Green Green List (high evidence)	AK2 Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Reticular dysgenesis MIM# 267500 MONDO:0009973 Combined immunodeficiency neutropaenia leukopaenia lymphopaenia agranulocytosis deafness Tags treatable
Green Green List (high evidence)	ALAS2 Bone Marrow Failure v2.9	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anemia, sideroblastic, 1, MIM# 300751 Tags
Green Green List (high evidence)	ALPK1 Autoinflammatory Disorders v3.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations 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)	ANKRD26 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Thrombocytopaenia 2, MIM# 188000 Tags 5'UTR
Green Green List (high evidence)	ANKZF1 Inflammatory bowel disease v1.4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related Tags
Green Green List (high evidence)	AP3B1 Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags clinical trial treatable
Green Green List (high evidence)	AP3D1 Disorders of immune dysregulation v2.11	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Hermansky-Pudlak syndrome 10, MIM# 617050 Oculocutaneous albinism Severe neutropaenia Recurrent infections Seizures Hearing loss Neurodevelopmental delay Tags
Green Green List (high evidence)	ARF1 Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Type 1 interferrinopathy of childhood, MONDO:0957408, ARF1 related Tags
Green Green List (high evidence)	ARPC1B Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718 Tags treatable
Green Green List (high evidence)	ARPC5 Autoinflammatory Disorders v3.17	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Literature Disease associations Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green Green List (high evidence)	ARPC5 Disorders of immune dysregulation v2.11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Literature Disease associations Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565 Tags
Green Green List (high evidence)	ARPC5 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Tags
Green Green List (high evidence)	ATAD3A Autoinflammatory Disorders v3.17	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations inborn error of immunity MONDO:0003778 Harel-Yoon syndrome MONDO:0014958 Tags
Green Green List (high evidence)	ATM Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.9	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Disease associations Immunodeficiency 47, MIM# 300972 Hepatopathy Leukopenia Low copper Tags
Green Green List (high evidence)	BACH2 Inflammatory bowel disease v1.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Immunodeficiency 60, MIM# 618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BACH2 Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Immunodeficiency 60, MIM# 618394 inflammatory bowel disease recurrent sinopulmonary infections Tags
Green Green List (high evidence)	BCL10 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 37, MIM# 616098 Tags
Green Green List (high evidence)	BCL11B Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Agammaglobulinaemia 4, MIM# 613502 Tags treatable
Green Green List (high evidence)	BLOC1S6 Disorders of immune dysregulation v2.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hermansky-Pudlak syndrome 9, MIM# 614171 Tags
Green Green List (high evidence)	BRCA1 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Fanconi anemia, complementation group S, MIM# 617883 Tags
Green Green List (high evidence)	BRCA2 Bone Marrow Failure v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group D1, MIM# 605724 Tags
Green Green List (high evidence)	BRIP1 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green Green List (high evidence)	BTK Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	BTK Predominantly Antibody Deficiency v2.9	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 Disease associations Agammaglobulinaemia, X-linked 1, MIM# 300755 Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Tags treatable
Green Green List (high evidence)	C1QA Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C1QB Complement Deficiencies v2.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C1q deficiency, MIM# 613652 Tags
Green Green List (high evidence)	C1QC Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C1q deficiency MIM#613652 Tags
Green Green List (high evidence)	C1R Complement Deficiencies v2.7	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 Victorian Clinical Genetics Services Disease associations Ehlers-Danlos syndrome, periodontal type 1, MONDO:0020684 Inborn error of immunity, MONDO:0003778 Tags
Green Green List (high evidence)	C1S Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C1s deficiency MIM#613783 Tags
Green Green List (high evidence)	C2 Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C2 deficiency MIM#217000 Tags
Green Green List (high evidence)	C2orf69 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Tags
Green Green List (high evidence)	C3 Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C3 deficiency MIM#613779 Tags
Green Green List (high evidence)	C5 Complement Deficiencies v2.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C5 deficiency MIM#609536 Tags
Green Green List (high evidence)	C6 Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C6 deficiency MIM#612446 Tags treatable
Green Green List (high evidence)	C7 Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C7 deficiency MIM#610102 Tags
Green Green List (high evidence)	C8B Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C8 deficiency, type II MIM#613789 Tags
Green Green List (high evidence)	C9 Complement Deficiencies v2.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C9 deficiency MIM#613825 Tags
Green Green List (high evidence)	CARD11 Combined Immunodeficiency v2.10	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 Disease associations 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 v2.9	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CARD14 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Psoriasis 2, MIM# 602723 Tags
Green Green List (high evidence)	CARD9 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 2, autosomal recessive, MIM# 212050 Predisposition to invasive fungal disease, MONDO:0008905 Tags
Green Green List (high evidence)	CARMIL2 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Early onset paediatric inflammatory bowel disease Tags
Green Green List (high evidence)	CARMIL2 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 58, MIM# 618131 Tags
Green Green List (high evidence)	CASP8 Autoimmune Lymphoproliferative Syndrome v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags
Green Green List (high evidence)	CASP8 Disorders of immune dysregulation v2.11	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Tags founder
Green Green List (high evidence)	CBLB Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Tags
Green Green List (high evidence)	CCBE1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510 lymphangiectasia and lymphoedema facial abnormalities dysmorphic features hypoalbuminaemia intellectual disability hypoglobulinaemia Tags
Green Green List (high evidence)	CCR2 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Polycystic lung disease MIM#219600 Tags
Green Green List (high evidence)	CCR5 Susceptibility to Viral Infections v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations {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 v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 3, MIM# 613493 Tags
Green Green List (high evidence)	CD247 Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 25, MIM# 610163 Absent T cells Normal B cells Normal NK cells Tags
Green Green List (high evidence)	CD27 Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lymphoproliferative syndrome 2, MIM# 615122 Tags
Green Green List (high evidence)	CD27 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lymphoproliferative syndrome 2, MIM# 615122 Host response to EBV Tags
Green Green List (high evidence)	CD27 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	CD3D Severe Combined Immunodeficiency v2.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 19 MIM# 615617 Tags treatable
Green Green List (high evidence)	CD3E Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 18 MIM# 615615 Tags treatable
Green Green List (high evidence)	CD3G Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD3G Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	CD4 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 79, MIM# 619238 Absence of CD4+ T cells exuberant, relapsing, treatment-refractory warts Tags
Green Green List (high evidence)	CD40 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags treatable
Green Green List (high evidence)	CD40LG Combined Immunodeficiency v2.10	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 Disease associations 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 v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD46 Complement Deficiencies v2.7	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CD55 Complement Deficiencies v2.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 Tags
Green Green List (high evidence)	CD59 Complement Deficiencies v2.7	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CD70 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Disease associations Lymphoproliferative syndrome 3, MIM# 618261 Tags treatable
Green Green List (high evidence)	CD70 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lymphoproliferative syndrome 3, MIM# 618261 Host response to EBV Tags treatable
Green Green List (high evidence)	CD79A Predominantly Antibody Deficiency v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Agammaglobulinaemia 3, MIM#613501 Tags treatable
Green Green List (high evidence)	CD79B Predominantly Antibody Deficiency v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Agammaglobulinaemia 6, MIM# 612692 Tags treatable
Green Green List (high evidence)	CD81 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 6, MIM# 613496 Tags
Green Green List (high evidence)	CDAN1 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anemia, congenital, type Ia, 224120 Tags
Green Green List (high evidence)	CDC42 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Neonatal-onset cytopaenia with dyshaematopoiesis autoinflammation rash HLH Tags
Green Green List (high evidence)	CDCA7 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 Tags
Green Green List (high evidence)	CDIN1 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Dyserythropoietic anemia, congenital, type Ib, MIM# 615631 Tags
Green Green List (high evidence)	CEBPE Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Specific granule deficiency, MIM# 245480 Tags
Green Green List (high evidence)	CERT1 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies (MIM#616351) Tags new gene name
Green Green List (high evidence)	CFB Complement Deficiencies v2.7	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 Disease associations complement factor b deficiency MONDO:0014255 Atypical hemolytic-uremic syndrome with B factor anomaly MONDO:0013042 Tags
Green Green List (high evidence)	CFD Complement Deficiencies v2.7	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFH Complement Deficiencies v2.7	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFHR1 Complement Deficiencies v2.7	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CFHR2 Complement Deficiencies v2.7	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Tags SV/CNV
Green Green List (high evidence)	CFHR3 Complement Deficiencies v2.7	3 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Hemolytic uremic syndrome, atypical, susceptibility to}, MIM# 235400 Tags
Green Green List (high evidence)	CFHR5 Complement Deficiencies v2.7	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Nephropathy due to CFHR5 deficiency, MIM# 614809 Tags
Green Green List (high evidence)	CFI Complement Deficiencies v2.7	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFP Complement Deficiencies v2.7	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFTR Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cystic fibrosis, MIM# 219700 Tags
Green Green List (high evidence)	CHD7 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	CHUK Combined Immunodeficiency v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined immunodeficiency, MONDO:0015131, CHUK-related Tags
Green Green List (high evidence)	CIB1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epidermodysplasia verruciformis 3 618267 HPV infections and cancer of the skin Tags
Green Green List (high evidence)	CIB1 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Epidermodysplasia verruciformis 3, MIM# 618267 HPV infections and cancer of the skin Tags
Green Green List (high evidence)	CIITA Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 4 MIM#611490 Tags
Green Green List (high evidence)	CLPB Bone Marrow Failure v2.9	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271 congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy Tags
Green Green List (high evidence)	CLPB Phagocyte Defects v2.3	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 Disease associations 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)	COPA Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 Tags
Green Green List (high evidence)	CORO1A Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 8, MIM# 615401 Tags treatable
Green Green List (high evidence)	CR2 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 7, MIM# 614699 Tags
Green Green List (high evidence)	CSF2RA Phagocyte Defects v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770 Tags
Green Green List (high evidence)	CSF2RB Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370 Tags
Green Green List (high evidence)	CSF3R Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Tags
Green Green List (high evidence)	CSF3R Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Tags
Green Green List (high evidence)	CTC1 Bone Marrow Failure v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green Green List (high evidence)	CTLA4 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTLA4 Predominantly Antibody Deficiency v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTLA4 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Tags
Green Green List (high evidence)	CTLA4 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CTLA4 Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Tags
Green Green List (high evidence)	CTLA4 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Tags
Green Green List (high evidence)	CTPS1 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Papillon-Lefevre syndrome, MIM# 245000 Tags
Green Green List (high evidence)	CXCR2 Phagocyte Defects v2.3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations WHIM syndrome 2 619407 Tags
Green Green List (high evidence)	CXCR4 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations WHIM syndrome 1, MIM# 193670 Tags
Green Green List (high evidence)	CXCR4 Defects of intrinsic and innate immunity v2.3	2 reviews 2 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 Disease associations WHIM syndrome 1, MIM# 193670 Tags
Green Green List (high evidence)	CXCR4 Susceptibility to Viral Infections v2.0	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 v2.9	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CYBA Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CYBA Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Chronic granulomatous disease 4, autosomal recessive, MIM# 233690 MONDO:0009308 Tags
Green Green List (high evidence)	CYBB Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CYBB Phagocyte Defects v2.3	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 Disease associations Chronic granulomatous disease, X-linked, MIM# 306400 Tags
Green Green List (high evidence)	CYBB Defects of intrinsic and innate immunity v2.3	2 reviews 2 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 Disease associations Chronic granulomatous disease, X-linked, MIM# 306400 Tags
Green Green List (high evidence)	CYBC1 Phagocyte Defects v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Disease associations Chronic granulomatous disease 5, autosomal recessive, MIM# 618935 Tags new gene name
Green Green List (high evidence)	DBR1 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334 Tags
Green Green List (high evidence)	DBR1 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441 Viral infections of the brainstem Tags
Green Green List (high evidence)	DCLRE1B Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dyskeratosis congenita, autosomal recessive 8, MIM# 620133 Tags
Green Green List (high evidence)	DCLRE1C Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225 Tags
Green Green List (high evidence)	DCLRE1C Inflammatory bowel disease v1.4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225 Tags
Green Green List (high evidence)	DCLRE1C Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225 Tags
Green Green List (high evidence)	DDX41 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871 Tags
Green Green List (high evidence)	DEF6 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 87 and autoimmunity, MONDO:0030457 Tags
Green Green List (high evidence)	DIAPH1 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714 Combined Immune deficiency Tags
Green Green List (high evidence)	DKC1 Bone Marrow Failure v2.9	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome Tags
Green Green List (high evidence)	DKC1 Combined Immunodeficiency v2.10	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 Disease associations 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)	DKC1 Inflammatory bowel disease v1.4	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Disease associations Dyskeratosis congenita, X-linked, MIM# 305000 Tags
Green Green List (high evidence)	DNAJC21 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure syndrome 3, MIM# 617052 Short stature Exocrine pancreatic insufficiency Pancytopaenia Shwachman-Diamond syndrome Tags
Green Green List (high evidence)	DNAJC21 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure syndrome 3, MIM# 617052 Tags
Green Green List (high evidence)	DNASE1L3 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Systemic lupus erythematosus 16, MIM# 614420 Tags
Green Green List (high evidence)	DNASE2 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Autoinflammatory-pancytopaenia syndrome, MIM# 619858 Tags
Green Green List (high evidence)	DNASE2 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Autoinflammatory-pancytopenia syndrome, MIM#619858 Tags
Green Green List (high evidence)	DNMT3B Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.9	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	DOCK11 Inflammatory bowel disease v1.4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Inflammatory bowel disease Tags
Green Green List (high evidence)	DOCK11 Disorders of immune dysregulation v2.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Tags
Green Green List (high evidence)	DOCK2 Susceptibility to Viral Infections v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, DOCK2-related Tags
Green Green List (high evidence)	DOCK2 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	DOCK8 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	DPP9 Disorders of immune dysregulation v2.11	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Literature Disease associations hatipoglu immunodeficiency syndrome MONDO:0957229 Tags
Green Green List (high evidence)	DPP9 Autoinflammatory Disorders v3.17	4 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Expert Review Green Literature Disease associations Autoinflammatory syndrome MONDO:0019751, DPP9-related recurrent fevers repeated infections herpes susceptibility cytopaenias Tags
Green Green List (high evidence)	DSG1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Other Disease associations severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218 Tags
Green Green List (high evidence)	DUOX2 Inflammatory bowel disease v1.4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inflammatory bowel disease, MONDO:0005265, DUOX2-related Tags
Green Green List (high evidence)	DUT Bone Marrow Failure v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Tags
Green Green List (high evidence)	EFL1 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Shwachman-Diamond syndrome 2, MIM# 617941 Tags
Green Green List (high evidence)	EFL1 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Shwachman-Diamond syndrome 2, MIM# 617941 Tags
Green Green List (high evidence)	EGFR Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Inflammatory skin and bowel disease, neonatal 2, MONDO:0014481 Tags
Green Green List (high evidence)	ELANE Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Tags
Green Green List (high evidence)	ELANE Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Neutropaenia, cyclic, MIM# 162800 Tags
Green Green List (high evidence)	ELANE Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropenia, cyclic MIM#162800 Tags
Green Green List (high evidence)	ELF4 Inflammatory bowel disease v1.4	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Tags
Green Green List (high evidence)	ELF4 Disorders of immune dysregulation v2.11	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 Disease associations Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Tags
Green Green List (high evidence)	EPG5 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	ERCC4 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group Q, MIM# 615272 Tags
Green Green List (high evidence)	ERCC6L2 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure syndrome 2, MIM# 615715 Tags
Green Green List (high evidence)	ERCC6L2 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure syndrome 2, MIM# 615715 Tags
Green Green List (high evidence)	ERG Bone Marrow Failure v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Myelodysplasia syndrome, MONDO:0018881, ERG-related Tags
Green Green List (high evidence)	ETV6 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Thrombocytopenia 5, MIM# 616216 Tags
Green Green List (high evidence)	EXTL3 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Tags
Green Green List (high evidence)	F12 Hereditary angioedema v2.0	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Angioedema, hereditary, 3, MIM# 610618 Tags founder
Green Green List (high evidence)	FAAP100 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Fanconi anemia, complementation group X, MIM# 621258 Tags
Green Green List (high evidence)	FADD Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations FADD-related immunodeficiency MONDO:0013408 Tags
Green Green List (high evidence)	FADD Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations FADD-related immunodeficiency MONDO:0013408 Tags
Green Green List (high evidence)	FANCA Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB Bone Marrow Failure v2.9	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group B, MIM# 300514 Tags
Green Green List (high evidence)	FANCC Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green Green List (high evidence)	FANCD2 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group D2, MIM# 227646 MONDO:0009214 Tags
Green Green List (high evidence)	FANCE Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green Green List (high evidence)	FANCF Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group F 603467 MONDO:0011325 Tags
Green Green List (high evidence)	FANCG Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green Green List (high evidence)	FANCI Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group I, MIM# 609053 MONDO:0012186 Tags
Green Green List (high evidence)	FANCL Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group L, MIM# 614083 MONDO:0013566 Tags
Green Green List (high evidence)	FAS Autoimmune Lymphoproliferative Syndrome v2.0	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 Disease associations Autoimmune lymphoproliferative syndrome, type IA MIM#601859 Tags
Green Green List (high evidence)	FAS Disorders of immune dysregulation v2.11	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FASLG Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoimmune lymphoproliferative syndrome, type IB MIM#601859 Tags
Green Green List (high evidence)	FASLG Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations autoimmune lymphoproliferative syndrome MONDO:0017979 Tags
Green Green List (high evidence)	FAT4 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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)	FDFT1 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations porokeratosis MONDO:0006602, FDFT1-related Tags somatic
Green Green List (high evidence)	FDPS Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations porokeratosis 9, multiple types MONDO:0014713 Tags
Green Green List (high evidence)	FERMT1 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Kindler syndrome MONDO:0008260 Tags
Green Green List (high evidence)	FERMT3 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Leukocyte adhesion deficiency, type III, MIM# 612840 Tags
Green Green List (high evidence)	FNIP1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	FNIP1 Predominantly Antibody Deficiency v2.9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Hypertrophic Cardiomyopathy Primary Immunodeficiency Agammaglobulinemia Neutropenia Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	FOXN1 Severe Combined Immunodeficiency v2.6	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 Disease associations 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 v2.10	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 Disease associations 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 v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FOXP3 Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	G6PC3 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541 MONDO:0012930 Dursun syndrome, MIM# 612541 Tags
Green Green List (high evidence)	G6PC3 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541 MONDO:0012930 Dursun syndrome, MIM# 612541 Tags
Green Green List (high evidence)	G6PC3 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	G6PD Phagocyte Defects v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Hemolytic anemia, G6PD deficient (favism), MIM# 300908 Tags
Green Green List (high evidence)	GALE Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Thrombocytopenia 12, syndromic, MIM#620776 Tags
Green Green List (high evidence)	GATA1 Bone Marrow Failure v2.9	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Tags
Green Green List (high evidence)	GATA2 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Tags treatable
Green Green List (high evidence)	GATA2 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Tags treatable
Green Green List (high evidence)	GATA2 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Emberger syndrome, MIM# 614038 Tags
Green Green List (high evidence)	GFI1 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Tags treatable
Green Green List (high evidence)	GFI1 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Tags treatable
Green Green List (high evidence)	GIMAP5 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Portal hypertension, noncirrhotic, 2, MIM# 619463 Tags
Green Green List (high evidence)	GIMAP5 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations portal hypertension, noncirrhotic, 2 MONDO:0030397 Tags
Green Green List (high evidence)	GIMAP6 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Tags
Green Green List (high evidence)	GINS1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 55, MIM#617827 Tags
Green Green List (high evidence)	GLRX5 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Tags
Green Green List (high evidence)	GNAI2 Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254, GNAI2-related Tags
Green Green List (high evidence)	GNAI2 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Syndromic disease MONDO:0002254, GNAI2-related Tags
Green Green List (high evidence)	GPR174 Disorders of immune dysregulation v2.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, GPR174-related Tags preprint
Green Green List (high evidence)	GTF3A Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Disease associations herpes simplex encephalitis MONDO:0012521 Tags
Green Green List (high evidence)	GTF3A Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Disease associations herpes simplex encephalitis MONDO:0012521 Tags
Green Green List (high evidence)	GUCY2C Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HAVCR2 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green Green List (high evidence)	HAVCR2 Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Tags
Green Green List (high evidence)	HAX1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green Green List (high evidence)	HAX1 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green Green List (high evidence)	HCK Autoinflammatory Disorders v3.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Tags
Green Green List (high evidence)	HEATR3 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Diamond-Blackfan anaemia 21, MIM# 620072 Tags
Green Green List (high evidence)	HELLS Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 Tags
Green Green List (high evidence)	HMOX1 Defects of intrinsic and innate immunity v2.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Heme oxygenase-1 deficiency, MIM# 614034 Asplenia Tags
Green Green List (high evidence)	HPS1 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HPS4 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HPS6 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HTRA2 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 3-methylglutaconic aciduria, type VIII, MIM# 617248 Tags
Green Green List (high evidence)	HYOU1 Phagocyte Defects v2.3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 59 and hypoglycemia, MIM# 233600 Tags
Green Green List (high evidence)	ICOS Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ICOS Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	IFIH1 Defects of intrinsic and innate immunity v2.3	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Immunodeficiency 95 MIM#619773 Tags
Green Green List (high evidence)	IFIH1 Inflammatory bowel disease v1.4	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 Disease associations Inflammatory Bowel Disease Tags
Green Green List (high evidence)	IFIH1 Autoinflammatory Disorders v3.17	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 7, MIM# 615846 Tags
Green Green List (high evidence)	IFIH1 Susceptibility to Viral Infections v2.0	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Severe viral respiratory infections Rhinovirus and other RNA viruses Tags
Green Green List (high evidence)	IFIH1 Disorders of immune dysregulation v2.11	3 reviews 3 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IFNAR1 Susceptibility to Viral Infections v2.0	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 106, susceptibility to viral infections, MIM# 619935 Severe disease caused by Yellow Fever vaccine and Measles vaccine Tags
Green Green List (high evidence)	IFNAR1 Defects of intrinsic and innate immunity v2.3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations immunodeficiency 106, susceptibility to viral infections MONDO:0030970 Tags
Green Green List (high evidence)	IFNAR2 Defects of intrinsic and innate immunity v2.3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations immunodeficiency 45 MONDO:0014727 Tags
Green Green List (high evidence)	IFNAR2 Susceptibility to Viral Infections v2.0	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 45, MIM# 616669 Tags
Green Green List (high evidence)	IFNGR1 Defects of intrinsic and innate immunity v2.3	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 Disease associations Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Tags
Green Green List (high evidence)	IFNGR2 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 28, mycobacteriosis, MIM# 614889 Tags
Green Green List (high evidence)	IGHM Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Agammaglobulinemia 1, MIM# 601495 Tags
Green Green List (high evidence)	IGLL1 Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Agammaglobulinaemia 2, MIM# 613500 Tags
Green Green List (high evidence)	IKBKB Combined Immunodeficiency v2.10	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 Disease associations Immunodeficiency 15A, autosomal dominant, MIM# 618204 Immunodeficiency 15B, autosomal recessive, MIM# 615592 Tags
Green Green List (high evidence)	IKBKG Combined Immunodeficiency v2.10	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 Disease associations Ectodermal dysplasia and immunodeficiency 1 MIM# 300291 Immunodeficiency 33 MIM# 300636 Tags
Green Green List (high evidence)	IKBKG Autoinflammatory Disorders v3.17	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Autoinflammatory disease, systemic, X-linked, MIM# 301081 Tags
Green Green List (high evidence)	IKBKG Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IKZF1 Disorders of immune dysregulation v2.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Immune dysregulation Tags
Green Green List (high evidence)	IKZF1 Predominantly Antibody Deficiency v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations 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)	IKZF1 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations 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 Immune dysregulation Tags
Green Green List (high evidence)	IKZF2 Disorders of immune dysregulation v2.11	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodysregulation with variable immunodeficiency and autoimmunity, MIM# 621233 Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, MIM# 621234 Tags
Green Green List (high evidence)	IKZF2 Combined Immunodeficiency v2.10	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations HELIOS deficiency MONDO:0800139 Tags
Green Green List (high evidence)	IKZF3 Combined Immunodeficiency v2.10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 84, MIM# 619437 Tags
Green Green List (high evidence)	IL10 Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL10 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Diseases of Immune Dysregulation Early-onset inflammatory bowel disease Tags
Green Green List (high evidence)	IL10RA Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL10RA Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 Tags
Green Green List (high evidence)	IL10RB Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 Tags
Green Green List (high evidence)	IL10RB Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL12B Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 29, mycobacteriosis, MIM# 614890 Tags
Green Green List (high evidence)	IL12RB1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 30, MIM# 614891 Tags
Green Green List (high evidence)	IL17RA Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 51, MIM# 613953 MONDO:0013500 Tags
Green Green List (high evidence)	IL17RC Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 9, MIM# 616445 MONDO:0014642 Tags
Green Green List (high evidence)	IL1RN Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Interleukin 1 receptor antagonist deficiency, MIM# 612852 Tags
Green Green List (high evidence)	IL21R Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 56, MIM# 615207 Tags
Green Green List (high evidence)	IL23R Defects of intrinsic and innate immunity v2.3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency disease, MONDO:0021094 Susceptibility to mycobacteria and Salmonella Tags
Green Green List (high evidence)	IL2RA Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	IL2RA Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL2RB Inflammatory bowel disease v1.4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Tags
Green Green List (high evidence)	IL2RB Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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)	IL2RG Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	IL2RG Combined Immunodeficiency v2.10	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 Disease associations 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 Severe Combined Immunodeficiency v2.6	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 Disease associations 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 Autoinflammatory Disorders v3.17	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 Disease associations Psoriasis 14, pustular, MIM# 614204 Autoinflammatory syndrome, MONDO:0019751, IL36RN-related Tags
Green Green List (high evidence)	IL6R Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Recurrent pyogenic infections, cold abscesses High circulating IL-6 levels High IgE IgE recurrent infection syndrome, MIM#618944 Tags
Green Green List (high evidence)	IL6ST Combined Immunodeficiency v2.10	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert list Disease associations 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)	IL7 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined immunodeficiency, MONDO:0015131, IL7-related Tags
Green Green List (high evidence)	IL7R Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations severe combined immunodeficiency 104 MIM#608971 Tags
Green Green List (high evidence)	IL7R Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations severe combined immunodeficiency 104 MIM#608971 Tags
Green Green List (high evidence)	IPO8 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 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 Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, IRAK4-related Tags
Green Green List (high evidence)	IRAK4 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 67, MIM# 607676 Tags
Green Green List (high evidence)	IRF1 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Disease associations Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668 Tags
Green Green List (high evidence)	IRF2BP2 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Immunodeficiency, common variable, 14, MIM# 617765 Tags
Green Green List (high evidence)	IRF4 Defects of intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Immunodeficiency 131, MIM# 621097 Tags
Green Green List (high evidence)	IRF4 Combined Immunodeficiency v2.10	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Immunodeficiency 131, MIM# 621097 Tags
Green Green List (high evidence)	IRF7 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 39, MIM# 616345 Tags
Green Green List (high evidence)	IRF7 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 39, MIM# 616345 Tags
Green Green List (high evidence)	IRF8 Defects of intrinsic and innate immunity v2.3	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 Disease associations Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893 Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags
Green Green List (high evidence)	DiGeorge syndrome ISCA-37433-Loss Region Severe Combined Immunodeficiency v2.6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations DiGeorge syndrome MIM#188400 Tags
Green Green List (high evidence)	DiGeorge syndrome ISCA-37433-Loss Region Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert list Disease associations DiGeorge syndrome MIM#188400 Tags
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, DiGeorge syndrome ISCA-37446-Loss Region Severe Combined Immunodeficiency v2.6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Disease associations Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 22q11.2 deletion syndrome, DiGeorge syndrome ISCA-37446-Loss Region Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Expert Review Green Disease associations Chromosome 22q11.2 deletion syndrome, distal MIM#611867 intellectual disability autism multiple congenital anomalies Tags SV/CNV
Green Green List (high evidence)	Chromosome 15q25 deletion syndrome ISCA-37500-Loss Region Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations Chromosome 15q25 deletion syndrome MIM#614294 intellectual disability congenital abnormalities haematological abnormalities Tags
Green Green List (high evidence)	ISG15 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 38, MIM# 616126 Tags
Green Green List (high evidence)	ITCH Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245 Tags
Green Green List (high evidence)	ITGAL Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Epidermodysplasia verruciformis, susceptibility to, 6, MIM#621588 Tags
Green Green List (high evidence)	ITGAV Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neurodevelopmental disorder with speech delay and behavioural abnormalities, MIM# 621372 Tags
Green Green List (high evidence)	ITGB2 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Leukocyte adhesion deficiency, MIM# 116920 Tags
Green Green List (high evidence)	ITGB2 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ITK Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lymphoproliferative syndrome 1, MIM# 613011 EBV associated B call lymphoproliferation, lymphoma Tags
Green Green List (high evidence)	ITK Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lymphoproliferative syndrome 1, MIM# 613011 EBV- associated B cell lymphoproliferation, lymphoma Tags
Green Green List (high evidence)	ITK Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Lymphoproliferative syndrome 1 MIM#613011 Tags
Green Green List (high evidence)	ITK Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	ITPR3 Combined Immunodeficiency v2.10	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Combined immunodeficiency, MONDO:0015131, ITPR3-related Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy, MIM# 621254 Tags
Green Green List (high evidence)	IVNS1ABP Combined Immunodeficiency v2.10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 70, MIM#618969 Tags
Green Green List (high evidence)	JAGN1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags
Green Green List (high evidence)	JAGN1 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags
Green Green List (high evidence)	JAK1 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	JAK1 Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Eosinophilia Eosinophilic enteritis Thyroid disease Poor growth Viral infections Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Green Green List (high evidence)	JAK3 Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Tags treatable
Green Green List (high evidence)	KARS1 Predominantly Antibody Deficiency v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893 Tags
Green Green List (high evidence)	KDM6A Combined Immunodeficiency v2.10	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 Disease associations Kabuki syndrome 2 MIM#300867 Tags
Green Green List (high evidence)	KLF1 Bone Marrow Failure v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673 MONDO:0013355 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Tags
Green Green List (high evidence)	KMT2D Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Kabuki syndrome 1 MIM#147920 Tags
Green Green List (high evidence)	KNG1 Hereditary angioedema v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Hereditary angioedema-6 (HAE6), MIM#619363 Tags
Green Green List (high evidence)	KRAS Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations RAS-associated autoimmune leukoproliferative disorder MIM#614470 Tags somatic
Green Green List (high evidence)	LACC1 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Disease associations juvenile arthritis due to defect in LACC1 MONDO:0032920 Tags
Green Green List (high evidence)	LAT Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 52, MIM# 617514 Tags
Green Green List (high evidence)	LCK Combined Immunodeficiency v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	LCP1 Combined Immunodeficiency v2.10	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Combined immunodeficiency, MONDO:0015131, LCP1-related Tags
Green Green List (high evidence)	LCP1 Bone Marrow Failure v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Combined immunodeficiency, MONDO:0015131, LCP1-related Tags
Green Green List (high evidence)	LCP2 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 81, MIM# 619374 Tags
Green Green List (high evidence)	LIG1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 v2.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Immunodeficiency 96, MIM# 619774 Tags
Green Green List (high evidence)	LIG4 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations LIG4 syndrome, MIM# 606593 Tags
Green Green List (high evidence)	LIG4 Disorders of immune dysregulation v2.11	4 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations LIG4 syndrome, MIM# 606593 Immune dysregulation Tags
Green Green List (high evidence)	LIG4 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags treatable
Green Green List (high evidence)	LIG4 Combined Immunodeficiency v2.10	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Severe Combined Immunodeficiency v2.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Disease associations 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)	LPIN2 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Majeed syndrome, MIM# 609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Tags
Green Green List (high evidence)	LRBA Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert list Disease associations Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700 Recurrent infections Inflammatory bowel disease Autoimmunity EBV infections Tags
Green Green List (high evidence)	LRBA Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	LRBA Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Tags
Green Green List (high evidence)	LRBA Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Tags
Green Green List (high evidence)	LRBA Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	LY9 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, LY9-related Tags
Green Green List (high evidence)	LYN Autoinflammatory Disorders v3.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Literature Disease associations Autoinflammatory disease, systemic, with vasculitis MONDO:0957271 Tags
Green Green List (high evidence)	LYN Disorders of immune dysregulation v2.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Tags
Green Green List (high evidence)	LYST Disorders of immune dysregulation v2.11	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)	MAGT1 Susceptibility to Viral Infections v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853 Tags
Green Green List (high evidence)	MAGT1 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853 Tags
Green Green List (high evidence)	MAGT1 Combined Immunodeficiency v2.10	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 Disease associations 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 v2.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853 Tags
Green Green List (high evidence)	MALT1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Predominantly Antibody Deficiency v2.9	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Disease associations Immunodeficiency 112, MIM# 620449 Tags
Green Green List (high evidence)	MAP3K14 Combined Immunodeficiency v2.10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	MAP4K1 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, MAP4K1-related Tags
Green Green List (high evidence)	MBD4 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Literature Disease associations Tumor predisposition syndrome 2 - MIM#619975 Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Tags
Green Green List (high evidence)	MCTS1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Literature Disease associations Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related Tags
Green Green List (high evidence)	MDM4 Bone Marrow Failure v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations bone marrow failure syndrome 6, MONDO:0030015 Tags
Green Green List (high evidence)	MECOM Bone Marrow Failure v2.9	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 Bone marrow failure without radioulnar synostosis (RUS) Tags
Green Green List (high evidence)	MEFV Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MEFV Autoinflammatory Disorders v3.17	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 Disease associations Familial Mediterranean fever, AD, MIM# 134610 Familial Mediterranean fever, AR, MIM# 249100 Neutrophilic dermatosis, MIM#608068 Tags
Green Green List (high evidence)	MOGS Predominantly Antibody Deficiency v2.9	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Congenital disorder of glycosylation, type IIb, MIM# 606056 Tags
Green Green List (high evidence)	MOGS Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Congenital disorder of glycosylation, type IIb, MIM# 606056 Severe hypogammaglobulinaemia Bacterial and viral infections Severe neurologic disease Tags
Green Green List (high evidence)	MPEG1 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Immunodeficiency 77, MIM# 619223 Tags
Green Green List (high evidence)	MPIG6B Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Tags
Green Green List (high evidence)	MPL Bone Marrow Failure v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myelofibrosis with myeloid metaplasia, somatic, MIM#254450 Thrombocythemia 2, MIM#601977, AD, SMu Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR Tags
Green Green List (high evidence)	MRTFA Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Inborn error of immunity, MONDO:0003778, MKL1-related Tags new gene name
Green Green List (high evidence)	MSN Susceptibility to Viral Infections v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MSN Phagocyte Defects v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Expert list Disease associations Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MSN Combined Immunodeficiency v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Immunodeficiency 50, MIM# 300988 Tags
Green Green List (high evidence)	MTHFD1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	MVD Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations Porokeratosis 7, multiple types, MIM# 614714 Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR Tags
Green Green List (high evidence)	MVK Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MVK Autoinflammatory Disorders v3.17	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hyper-IgD syndrome (MIM#260920) Mevalonic aciduria (MIM#610377) porokeratosis 3, disseminated superficial actinic type MONDO:0008293 Tags
Green Green List (high evidence)	MYD88 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 68, MIM# 612260 Tags
Green Green List (high evidence)	MYH9 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Green Green List (high evidence)	MYSM1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure syndrome 4, MIM#618116 Tags treatable
Green Green List (high evidence)	MYSM1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Bone marrow failure syndrome 4, MIM#618116 Tags treatable
Green Green List (high evidence)	NAF1 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Tags
Green Green List (high evidence)	NBAS Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Tags
Green Green List (high evidence)	NBAS Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800 Infantile liver failure syndrome 2 MIM#616483 Tags
Green Green List (high evidence)	NBEAL2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Gray platelet syndrome, MIM# 139090 Tags
Green Green List (high evidence)	NBEAL2 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Gray platelet syndrome, MIM# 139090 Immune dysregulation Tags
Green Green List (high evidence)	NBN Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Nijmegen breakage syndrome, MIM#251260 Aplastic anemia, MIM#609135 Leukemia, acute lymphoblastic, MIM#613065 Tags
Green Green List (high evidence)	NBN Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Nijmegen breakage syndrome, MIM#251260 Tags
Green Green List (high evidence)	NCF1 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	NCF1 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Chronic granulomatous disease 1, autosomal recessive, MIM# 233700 Tags
Green Green List (high evidence)	NCF2 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NCF2 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Tags
Green Green List (high evidence)	NCF4 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Tags
Green Green List (high evidence)	NCKAP1L Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Literature Disease associations immunodeficiency 72 with autoinflammation MONDO:0033551 Tags
Green Green List (high evidence)	NCKAP1L Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Immunodeficiency Immune dysregulation Immunodeficiency 72 with autoinflammation, MIM# 618982 Tags
Green Green List (high evidence)	NCSTN Defects of intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Acne inversa, familial, 1 MIM#142690 Tags
Green Green List (high evidence)	NFE2L2 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations 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 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Autoimmune Lymphoproliferative Syndrome v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency, common variable, 12 MIM# 616576 Tags
Green Green List (high evidence)	NFKB1 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency, common variable, 10 MIM# 615577 Tags
Green Green List (high evidence)	NFKB2 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291 MONDO:0012650 Tags
Green Green List (high evidence)	NHP2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Tags
Green Green List (high evidence)	NHP2 Combined Immunodeficiency v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Familial cold autoinflammatory syndrome 4 - MIM#616115 Autoinflammation with infantile enterocolitis - MIM#616050 Tags
Green Green List (high evidence)	NLRP1 Disorders of immune dysregulation v2.11	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Tags
Green Green List (high evidence)	NLRP1 Autoinflammatory Disorders v3.17	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Autoinflammation with arthritis and dyskeratosis, MIM# 617388 Palmoplantar carcinoma, multiple self-healing 615225 Recurrent respiratory papillomatosis Tags
Green Green List (high evidence)	NLRP12 Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Familial cold autoinflammatory syndrome 2 - MIM#611762 Tags
Green Green List (high evidence)	NLRP3 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Inflammatory bowel disease v1.4	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations {Inflammatory bowel disease 1, Crohn disease} 266600 {Yao syndrome} 617321 Tags
Green Green List (high evidence)	NOD2 Autoinflammatory Disorders v3.17	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 Disease associations Blau syndrome, MIM# 186580 {Inflammatory bowel disease 1, Crohn disease} 266600 {Yao syndrome} 617321 Tags
Green Green List (high evidence)	NPM1 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations radial ray defects short stature nail dsytrophy bone marrow failure Tags
Green Green List (high evidence)	NRAS Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations autoimmune lymphoproliferative syndrome type 4 MONDO:0013767 Tags
Green Green List (high evidence)	NSMCE3 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Tags
Green Green List (high evidence)	NUDCD3 Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Literature Disease associations Severe combined immunodeficiency omenn syndrome Tags
Green Green List (high evidence)	OAS1 Predominantly Antibody Deficiency v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green Green List (high evidence)	OAS1 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags
Green Green List (high evidence)	OAS2 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 Tags
Green Green List (high evidence)	OAS2 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Disease associations Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 Tags
Green Green List (high evidence)	OAS2 Susceptibility to Viral Infections v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409 Tags
Green Green List (high evidence)	ORAI1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 9, MIM# 612782 Tags
Green Green List (high evidence)	OSM Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations bone marrow failure syndrome MONDO:0000159 Tags
Green Green List (high evidence)	OSMR Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, OSMR-related Tags
Green Green List (high evidence)	OSTM1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 5 MIM#259720 Tags
Green Green List (high evidence)	OTULIN Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Tags
Green Green List (high evidence)	OTULIN Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 Tags
Green Green List (high evidence)	OTULIN Autoinflammatory Disorders v3.17	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 Disease associations Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099 Tags
Green Green List (high evidence)	PALB2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group N, MIM# 610832 Tags
Green Green List (high evidence)	PARN Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Tags
Green Green List (high evidence)	PARN Bone Marrow Failure v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Tags
Green Green List (high evidence)	PAX1 Severe Combined Immunodeficiency v2.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Otofaciocervical syndrome 2 with T-cell deficiency, MIM #615560 Tags
Green Green List (high evidence)	PEPD Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Disease associations Prolidase deficiency, MIM#170100 Tags
Green Green List (high evidence)	PGM3 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 23, MIM# 615816 PGM3-CDG, MONDO:0014353 Tags
Green Green List (high evidence)	PIK3CD Disorders of immune dysregulation v2.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags
Green Green List (high evidence)	PIK3CD Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags
Green Green List (high evidence)	PIK3CD Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PIK3CD Predominantly Antibody Deficiency v2.9	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 Disease associations Immunodeficiency 14, MIM# 615513 Tags
Green Green List (high evidence)	PIK3CG Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations 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 Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 36 MIM#616005 Tags
Green Green List (high evidence)	PIK3R1 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 36, MIM# 616005 Tags
Green Green List (high evidence)	PIK3R1 Predominantly Antibody Deficiency v2.9	2 reviews 2 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PLCG1 Disorders of immune dysregulation v2.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Disease associations Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Tags
Green Green List (high evidence)	PLCG2 Predominantly Antibody Deficiency v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Common variable immunodeficiency Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Tags
Green Green List (high evidence)	PLCG2 Susceptibility to Viral Infections v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related Susceptibility to herpes virus Tags
Green Green List (high evidence)	PLCG2 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Tags
Green Green List (high evidence)	PLD4 Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Systemic lupus erythematosus 18, MIM# 621369 Tags
Green Green List (high evidence)	PLEKHM1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 6 MIM#611497 Tags
Green Green List (high evidence)	PLG Hereditary angioedema v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Hereditary angioedema-4 (HAE4), MIM#619360 Tags
Green Green List (high evidence)	PMVK Autoinflammatory Disorders v3.17	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, PMVK-related Tags
Green Green List (high evidence)	PNP Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Combined Immunodeficiency v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations X-linked reticulate pigmentary disorder MONDO:0010523 Tags
Green Green List (high evidence)	POLA1 Autoinflammatory Disorders v3.17	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220 Tags deep intronic
Green Green List (high evidence)	POLA2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Telomere biology syndrome MONDO:0100137 Tags
Green Green List (high evidence)	POLD1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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)	POLE Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations FILS syndrome, MIM# 615139 IMAGE-I syndrome, MIM# 618336 Tags deep intronic
Green Green List (high evidence)	POMP Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Combined immunodeficiency Autoinflammation Tags
Green Green List (high evidence)	POMP Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations proteasome-associated autoinflammatory syndrome 2 MONDO:0054700 Tags
Green Green List (high evidence)	POT1 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Telomere syndrome, MONDO:0100137, POT1-related Tags
Green Green List (high evidence)	PPL Disorders of immune dysregulation v2.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Disease associations Eosinophilic esophagitis, MONDO:0005361 Tags
Green Green List (high evidence)	PRF1 Disorders of immune dysregulation v2.11	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PRIM1 Combined Immunodeficiency v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Disease associations Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MONDO:0859276 Tags
Green Green List (high evidence)	PRKCD Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoimmune lymphoproliferative syndrome, type III MIM#615559 Tags
Green Green List (high evidence)	PRKCD Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green Green List (high evidence)	PRKCD Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type III, MIM# 615559 CVID 9 Tags
Green Green List (high evidence)	PRKDC Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Disease associations 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 intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations ?Acne inversa, familial, 3 MIM#613737 Tags
Green Green List (high evidence)	PSENEN Defects of intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Tags
Green Green List (high evidence)	PSMB10 Autoinflammatory Disorders v3.17	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 Tags
Green Green List (high evidence)	PSMB8 Autoinflammatory Disorders v3.17	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 Disease associations Proteasome-associated autoinflammatory syndrome 1, MIM# 256040 MONDO:0054698 Tags
Green Green List (high evidence)	PSMB9 Autoinflammatory Disorders v3.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591 Proteasome-associated autoinflammatory syndrome 6, MIM# 620796 Tags
Green Green List (high evidence)	PSMD12 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Stankiewicz-Isidor syndrome MONDO:0054591 Tags
Green Green List (high evidence)	PSTPIP1 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome Tags
Green Green List (high evidence)	PSTPIP1 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Tags
Green Green List (high evidence)	PTCRA Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 126, MIM# 620931 Tags
Green Green List (high evidence)	PTCRA Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 126, MIM# 620931 Tags
Green Green List (high evidence)	PTEN Predominantly Antibody Deficiency v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations PTEN hamartoma tumor syndrome MONDO:0017623 Tags
Green Green List (high evidence)	PTPN1 Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related Tags
Green Green List (high evidence)	PTPN2 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related Tags
Green Green List (high evidence)	PTPN2 Autoinflammatory Disorders v3.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome of childhood, MONDO:0957018, PTPN2-related Tags
Green Green List (high evidence)	PTPRC Severe Combined Immunodeficiency v2.6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	PUS1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Tags
Green Green List (high evidence)	RAB27A Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Griscelli syndrome, type 2, MIM# 607624 Tags
Green Green List (high evidence)	RAC2 Severe Combined Immunodeficiency v2.6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Disease associations SCID recurrent bacterial and viral infections lymphoproliferation neutropaenia reticular dysgenesis deafness Tags
Green Green List (high evidence)	RAC2 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Expert Review Green Expert list Disease associations 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)	RAC2 Combined Immunodeficiency v2.10	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 Disease associations 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 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutrophil immunodeficiency syndrome, MIM# 608203 Common variable immunodeficiency Tags
Green Green List (high evidence)	RAD50 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Nijmegen breakage syndrome-like disorder, MIM# 613078 Hypogammaglobulinaemia Tags
Green Green List (high evidence)	RAG1 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RAG1 Severe Combined Immunodeficiency v2.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Recombinase activating gene 1 deficiency MONDO:0000572 Tags
Green Green List (high evidence)	RAG1 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Recombinase activating gene 1 deficiency MONDO:0000572 Tags
Green Green List (high evidence)	RAG2 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RAG2 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Recombinase activating gene 2 deficiency MONDO:0000573 Tags
Green Green List (high evidence)	RAG2 Severe Combined Immunodeficiency v2.6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Recombinase activating gene 2 deficiency MONDO:0000573 Tags
Green Green List (high evidence)	RANBP2 Defects of intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Tags
Green Green List (high evidence)	RASGRP1 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 64, MIM#618534 Tags
Green Green List (high evidence)	RBCK1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	RBM8A Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags SV/CNV
Green Green List (high evidence)	RECQL4 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Rothmund-Thomson syndrome MONDO:0010002 Tags
Green Green List (high evidence)	REL Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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
Green Green List (high evidence)	RELA Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Mucocutaneous ulceration, chronic, MIM# 618287 Impaired NFkB activation reduced production of inflammatory cytokines autoimmune cytopaenias Tags
Green Green List (high evidence)	RELA Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Mucocutaneous ulceration, chronic, MIM# 618287 periodic fever, inflammatory bowel disease, JIA Tags
Green Green List (high evidence)	RELA Inflammatory bowel disease v1.4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Mucocutaneous ulceration, chronic, MIM# 618287 Inflammatory bowel disease Tags
Green Green List (high evidence)	RELB Combined Immunodeficiency v2.10	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 53, MIM# 617585 T cells: normal number, poor diversity, poor function recurrent infections Tags
Green Green List (high evidence)	RFX5 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Pneumonia Colitis Immunodeficiency Tags
Green Green List (high evidence)	RIGI Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Lupus Nephritis, MONDO:0005556, DDX58-related Tags
Green Green List (high evidence)	RIPK1 Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Disease associations autoinflammation with episodic fever and lymphadenopathy MONDO:0030018 Tags
Green Green List (high evidence)	RIPK1 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 57, MIM#618108 Tags
Green Green List (high evidence)	RIPK1 Disorders of immune dysregulation v2.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 57, MIM#618108 Tags
Green Green List (high evidence)	RMRP Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cartilage-hair hypoplasia, MIM# 250250 Tags non-coding gene
Green Green List (high evidence)	RMRP Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 non-coding gene
Green Green List (high evidence)	RNASEH2A Disorders of immune dysregulation v2.11	2 reviews 2 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RNASEH2A Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Green Green List (high evidence)	RNASEH2B Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RNASEH2B Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 2, MIM# 610181 Tags
Green Green List (high evidence)	RNASEH2C Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 3, MIM# 610329 Tags
Green Green List (high evidence)	RNASEH2C Disorders of immune dysregulation v2.11	2 reviews 2 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RNF168 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	RNF31 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Green Green List (high evidence)	RNF31 Autoinflammatory Disorders v3.17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Immunodeficiency 115 with autoinflammation, MIM# 620632 Tags
Green Green List (high evidence)	RNU4ATAC Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Lowry-Wood syndrome MIM#226960 Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710 Roifman syndrome MIM#616651 Tags non-coding gene
Green Green List (high evidence)	RNU6ATAC Disorders of immune dysregulation v2.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Mendez-Johnson immunoneurologic syndrome, MIM# 621585 Tags non-coding gene
Green Green List (high evidence)	RNU7-1 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Disease associations Aicardi-Goutieres syndrome 9 (MIM#619487) Tags non-coding gene
Green Green List (high evidence)	RORC Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 42, MIM# 616622 Tags
Green Green List (high evidence)	RPA1 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767 Bone marrow failure T- and B-cell lymphopaenia pulmonary fibrosis skin manifestations short telomeres Tags
Green Green List (high evidence)	RPL11 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938 Tags
Green Green List (high evidence)	RPL15 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Diamond-Blackfan anemia 12, MIM# 615550 Tags
Green Green List (high evidence)	RPL17 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Diamond-Blackfan anaemia 22, MIM# 621262 Tags
Green Green List (high evidence)	RPL26 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Diamond-Blackfan anemia 11, MIM# 614900 Tags
Green Green List (high evidence)	RPL35A Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Green Green List (high evidence)	RPL5 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 6, MIM# 612561 MONDO:0012937 Tags
Green Green List (high evidence)	RPS10 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 9, MIM# 613308 Tags
Green Green List (high evidence)	RPS17 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Diamond-Blackfan anaemia 4, MIM# 612527 MONDO:0012924 Tags
Green Green List (high evidence)	RPS19 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 1, MIM# 105650 MONDO:0007110 Tags
Green Green List (high evidence)	RPS24 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-blackfan anemia 3, MIM# 610629 MONDO:0012529 Tags
Green Green List (high evidence)	RPS26 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 Tags
Green Green List (high evidence)	RPS28 Bone Marrow Failure v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags
Green Green List (high evidence)	RPS7 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 8, MIM# 612563 MONDO:0012939 Tags
Green Green List (high evidence)	RPSA Defects of intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Asplenia, isolated congenital, MIM# 271400 Tags
Green Green List (high evidence)	RTEL1 Bone Marrow Failure v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Tags
Green Green List (high evidence)	RTEL1 Combined Immunodeficiency v2.10	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 Disease associations 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 v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RUNX1 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Tags
Green Green List (high evidence)	SAMD9 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations MIRAGE syndrome, MIM#617053 Tags
Green Green List (high evidence)	SAMD9 Inflammatory bowel disease v1.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations MIRAGE syndrome, MIM# 617053 Tags
Green Green List (high evidence)	SAMD9L Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Ataxia-pancytopenia syndrome, MIM# 159550 Tags
Green Green List (high evidence)	SAMHD1 Disorders of immune dysregulation v2.11	2 reviews 2 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SAMHD1 Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Aicardi-Goutieres syndrome 5, MIM# 612952 Tags
Green Green List (high evidence)	SASH3 Disorders of immune dysregulation v2.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SASH3 Combined Immunodeficiency v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency 102, MIM# 301082 Tags
Green Green List (high evidence)	SAT1 Autoinflammatory Disorders v3.17	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Systemic lupus erythematosus, MONDO:0007915, SAT1-related Tags
Green Green List (high evidence)	SBDS Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Shwachman-Diamond syndrome, MIM# 260400 Tags
Green Green List (high evidence)	SBDS Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Shwachman-Diamond syndrome, MIM# 260400 Tags
Green Green List (high evidence)	SEC23B Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anemia, congenital, type II , MIM#224100 Tags
Green Green List (high evidence)	SEC61A1 Predominantly Antibody Deficiency v2.9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert list Disease associations Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Immunodeficiency, common variable, 15, MIM# 620670 Tags
Green Green List (high evidence)	SEC61A1 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations 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)	SENP7 Phagocyte Defects v2.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Tags
Green Green List (high evidence)	SENP7 Predominantly Antibody Deficiency v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Disease associations Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Tags
Green Green List (high evidence)	SERPINA1 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 Tags
Green Green List (high evidence)	SERPING1 Hereditary angioedema v2.0	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 Disease associations Angioedema, hereditary, 1 and 2, MIM# 106100 Tags
Green Green List (high evidence)	SERPING1 Complement Deficiencies v2.7	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)	SGPL1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Disease associations Sphingosine Phosphate Lyase Insufficiency Syndrome RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SH2B3 Disorders of immune dysregulation v2.11	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Tags
Green Green List (high evidence)	SH2B3 Bone Marrow Failure v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related Tags
Green Green List (high evidence)	SH2D1A Susceptibility to Viral Infections v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Host response to EBV infection Lymphoproliferative syndrome, X-linked, 1 308240 Tags
Green Green List (high evidence)	SH2D1A Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SH2D1A Predominantly Antibody Deficiency v2.9	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SH2D1A Disorders of immune dysregulation v2.11	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SH3BP2 Autoinflammatory Disorders v3.17	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Cherubism, MIM# 118400 Tags
Green Green List (high evidence)	SHARPIN Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation with episodic fever and immune dysregulation, MIM# 620795 Tags
Green Green List (high evidence)	SKIC2 Predominantly Antibody Deficiency v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Trichohepatoenteric syndrome 2, MIM#614602 Tags
Green Green List (high evidence)	SKIC2 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SKIC2 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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)	SKIC3 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Trichohepatoenteric syndrome 1, MIM#222470 Colitis Pancolitis Inflammatory bowel disease-like phenotype Very Early Onset Inflammatory Bowel Disease Tags
Green Green List (high evidence)	SKIC3 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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)	SKIC3 Predominantly Antibody Deficiency v2.9	1 review 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SLC19A2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Tags
Green Green List (high evidence)	SLC25A38 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC29A3 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Tags
Green Green List (high evidence)	SLC35C1 Phagocyte Defects v2.3	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 Disease associations Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags
Green Green List (high evidence)	SLC37A4 Bone Marrow Failure v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Glycogen storage disease Ib, MIM# 232220 Tags
Green Green List (high evidence)	SLC37A4 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Glycogen storage disease Ib, MIM# 232220 Tags
Green Green List (high evidence)	SLC37A4 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SLC39A7 Predominantly Antibody Deficiency v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 v1.4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related Enteropathy Tags
Green Green List (high evidence)	SLX4 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group P, MIM# 613951 Tags
Green Green List (high evidence)	SMARCAL1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Schimke immunoosseous dysplasia, MIM# 242900 Tags
Green Green List (high evidence)	SMARCAL1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Specific granule deficiency 2, MIM# 617475 Neutropaenia Neurodevelopmental abnormalities in some Myelodysplasia Tags
Green Green List (high evidence)	SNORA31 Susceptibility to Viral Infections v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396 Tags non-coding gene
Green Green List (high evidence)	SNORA31 Defects of intrinsic and innate immunity v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Disease associations encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Tags non-coding gene
Green Green List (high evidence)	SNX10 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 8 MIM#615085 Tags
Green Green List (high evidence)	SOCS1 Disorders of immune dysregulation v2.11	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Disease associations Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Early-onset autoimmunity Tags
Green Green List (high evidence)	SOCS1 Predominantly Antibody Deficiency v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Disease associations Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Common variable immunodeficiency Tags
Green Green List (high evidence)	SOCS1 Inflammatory bowel disease v1.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375 Enteropathy Tags
Green Green List (high evidence)	SP110 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	SP110 Predominantly Antibody Deficiency v2.9	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)	SPI1 Predominantly Antibody Deficiency v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Agammaglobulinaemia 10, autosomal dominant, MIM# 619707 Tags
Green Green List (high evidence)	SPINK5 Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	SPPL2A Defects of intrinsic and innate immunity v2.3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Disease associations Immunodeficiency 86, mycobacteriosis MIM#619549 Tags
Green Green List (high evidence)	SRP54 Bone Marrow Failure v2.9	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Syndromic neutropenia with Shwachman-Diamond-like features Tags
Green Green List (high evidence)	SRP54 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags
Green Green List (high evidence)	STAT1 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT1 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT1 Susceptibility to Viral Infections v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796 Tags
Green Green List (high evidence)	STAT2 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Disease associations Susceptibility to viral disease Tags
Green Green List (high evidence)	STAT2 Defects of intrinsic and innate immunity v2.3	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 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory disorder Tags
Green Green List (high evidence)	STAT3 Autoimmune Lymphoproliferative Syndrome v2.0	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952 STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Tags
Green Green List (high evidence)	STAT3 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STAT3 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hyper-IgE recurrent infection syndrome MIM# 147060 Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Tags
Green Green List (high evidence)	STAT3 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations 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)	STAT4 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Disabling pansclerotic morphea of childhood MIM#620443 Tags
Green Green List (high evidence)	STAT5B Combined Immunodeficiency v2.10	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 Disease associations Growth hormone insensitivity with immunodeficiency, MIM# 245590 Tags somatic
Green Green List (high evidence)	STAT6 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Tags
Green Green List (high evidence)	STAT6 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations hyper-IgE syndrome MONDO:0018037 Tags
Green Green List (high evidence)	STIM1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 10, MIM# 612783 Tags
Green Green List (high evidence)	STING1 Disorders of immune dysregulation v2.11	1 review 1 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STING1 Autoinflammatory Disorders v3.17	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations STING-associated vasculopathy, infantile-onset, MIM# 615934 Tags
Green Green List (high evidence)	STK4 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	STN1 Bone Marrow Failure v2.9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green Green List (high evidence)	STX11 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Tags
Green Green List (high evidence)	STXBP2 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101 Tags
Green Green List (high evidence)	STXBP2 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	STXBP3 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, STXBP3-related Tags
Green Green List (high evidence)	STXBP3 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Inborn error of immunity, MONDO:0003778, STXBP3-related Tags
Green Green List (high evidence)	SYK Autoinflammatory Disorders v3.17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Literature Disease associations immunodeficiency 82 with systemic inflammation MONDO:0030308 Tags
Green Green List (high evidence)	SYK Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Tags
Green Green List (high evidence)	TAFAZZIN Phagocyte Defects v2.3	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 Disease associations Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TAFAZZIN Bone Marrow Failure v2.9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TAP1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	TBCE Combined Immunodeficiency v2.10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Tags
Green Green List (high evidence)	TBK1 Defects of intrinsic and innate immunity v2.3	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 Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hereditary predisposition to infections, MONDO:0015979, TBK1-related Tags
Green Green List (high evidence)	TBK1 Autoinflammatory Disorders v3.17	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammation with arthritis and vasculitis, MIM# 620880 Tags
Green Green List (high evidence)	TBK1 Susceptibility to Viral Infections v2.0	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hereditary predisposition to infections, MONDO:0015979, TBK1-related Tags
Green Green List (high evidence)	TBX1 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	TBXAS1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Ghosal hematodiaphyseal syndrome, MIM#231095 Tags
Green Green List (high evidence)	TCF3 Predominantly Antibody Deficiency v2.9	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 Disease associations Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Tags
Green Green List (high evidence)	TCIRG1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 1 MIM#259700 Tags
Green Green List (high evidence)	TCIRG1 Phagocyte Defects v2.3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Disease associations severe congenital neutropenia, MONDO:0018542 Tags
Green Green List (high evidence)	TCN2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Transcobalamin II deficiency, MIM#275350 Tags
Green Green List (high evidence)	TCN2 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	TERC Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Tags non-coding gene
Green Green List (high evidence)	TERT Bone Marrow Failure v2.9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags non-coding gene
Green Green List (high evidence)	TET2 Disorders of immune dysregulation v2.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immune dysregulation Lymphoma Immunodeficiency-75 (IMD75), MIM#619126 Tags
Green Green List (high evidence)	TFRC Combined Immunodeficiency v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 46, MIM# 616740 TFRC-related combined immunodeficiency MONDO:0014760 Tags
Green Green List (high evidence)	TGFBR1 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TGFBR1 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Loeys-Dietz syndrome 1 MIM#609192 Tags
Green Green List (high evidence)	TGFBR2 Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TGFBR2 Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations Loeys-Dietz syndrome 2 MIM#610168 Tags
Green Green List (high evidence)	THPO Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Disease associations Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Tags
Green Green List (high evidence)	TICAM1 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TICAM1 Susceptibility to Viral Infections v2.0	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 Disease associations {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850 Tags
Green Green List (high evidence)	TINF2 Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Green Green List (high evidence)	TLR3 Susceptibility to Viral Infections v2.0	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 Disease associations {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002 Tags
Green Green List (high evidence)	TLR3 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TLR7 Susceptibility to Viral Infections v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 Tags
Green Green List (high evidence)	TLR7 Defects of intrinsic and innate immunity v2.3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Expert Review Green Expert list Disease associations Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767 Tags
Green Green List (high evidence)	TLR7 Disorders of immune dysregulation v2.11	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 Disease associations Systemic lupus erythematosus 17, MIM# 301080 Tags
Green Green List (high evidence)	TLR8 Combined Immunodeficiency v2.10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags somatic
Green Green List (high evidence)	TLR8 Autoinflammatory Disorders v3.17	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome MONDO:0019751, TLR8-associated Tags
Green Green List (high evidence)	TLR8 Defects of intrinsic and innate immunity v2.3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags
Green Green List (high evidence)	TLR8 Bone Marrow Failure v2.9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags somatic
Green Green List (high evidence)	TMC6 Susceptibility to Viral Infections v2.0	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 intrinsic and innate immunity v2.3	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 intrinsic and innate immunity v2.3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Epidermodysplasia verruciformis 2, MIM# 618231 Tags
Green Green List (high evidence)	TMC8 Susceptibility to Viral Infections v2.0	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)	TMEFF1 Susceptibility to Viral Infections v2.0	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related HSV encephalitis Tags
Green Green List (high evidence)	TNFAIP3 Inflammatory bowel disease v1.4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inflammatory bowel disease Crohn's disease Autoinflammatory syndrome, familial, Behcet-like Tags
Green Green List (high evidence)	TNFAIP3 Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744 Tags
Green Green List (high evidence)	TNFRSF11A Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 7 MIM#612301 Tags
Green Green List (high evidence)	TNFRSF13B Predominantly Antibody Deficiency v2.9	2 reviews 1 green	Other	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 2, MIM# 240500 Tags
Green Green List (high evidence)	TNFRSF1A Autoinflammatory Disorders v3.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Periodic fever, familial, MIM# 142680 Tags
Green Green List (high evidence)	TNFRSF9 Susceptibility to Viral Infections v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 109 with lymphoproliferation, MIM# 620282 Tags
Green Green List (high evidence)	TNFRSF9 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 109 with lymphoproliferation, MIM# 620282 EBV lymphoproliferation B-cell lymphoma Chronic active EBV infection Tags
Green Green List (high evidence)	TNFSF11 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Osteopetrosis, autosomal recessive 2 MIM#259710 Tags
Green Green List (high evidence)	TOP2B Predominantly Antibody Deficiency v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Disease associations 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)	TP63 Severe Combined Immunodeficiency v2.6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001 Tags
Green Green List (high evidence)	TPP2 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Tags
Green Green List (high evidence)	TRAC Combined Immunodeficiency v2.10	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 TCR-alpha-beta-positive T-cell deficiency, MONDO:0014160 Tags founder
Green Green List (high evidence)	TRAF3 Disorders of immune dysregulation v2.11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Immunodeficiency 132B, MIM# 621096 Tags
Green Green List (high evidence)	TRAF3IP2 Disorders of immune dysregulation v2.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Disease associations Candidiasis, familial, 8, MIM# 615527 Tags
Green Green List (high evidence)	TRAF3IP2 Defects of intrinsic and innate immunity v2.3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 8, MIM# 615527 Tags
Green Green List (high evidence)	TREX1 Autoinflammatory Disorders v3.17	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations {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 v2.11	2 reviews 2 green	Unknown	Sources Expert Review Green Expert list Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TRIM22 Inflammatory bowel disease v1.4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Inflammatory bowel disease Tags
Green Green List (high evidence)	TRNT1 Predominantly Antibody Deficiency v2.9	2 reviews 1 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	TRNT1 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	TTC7A Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Gastrointestinal defects and immunodeficiency syndrome, 243150 Tags
Green Green List (high evidence)	TTC7A Inflammatory bowel disease v1.4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Gastrointestinal defects and immunodeficiency syndrome, 243150 Very Early Onset Inflammatory Bowel Disease (VEOIBD) Tags
Green Green List (high evidence)	TYK2 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 35, MIM# 611521 Tags
Green Green List (high evidence)	UBA1 Autoinflammatory Disorders v3.17	1 review 1 green	Other	Sources Expert Review Green Literature Disease associations Autoinflammatory disease, adult onset VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054 Tags somatic
Green Green List (high evidence)	UBE2T Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Fanconi anemia, complementation group T, MIM# 616435 Tags SV/CNV
Green Green List (high evidence)	UNC13D Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Green Green List (high evidence)	UNC93B1 Disorders of immune dysregulation v2.11	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related Tags
Green Green List (high evidence)	UNG Predominantly Antibody Deficiency v2.9	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)	USB1 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Poikiloderma with neutropaenia, MIM# 604173 MONDO:0011405 Tags
Green Green List (high evidence)	USB1 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Poikiloderma with neutropaenia, MIM# 604173 MONDO:0011405 Tags
Green Green List (high evidence)	USP18 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Pseudo-TORCH syndrome 2, MIM# 617397 Tags
Green Green List (high evidence)	VPS13B Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Cohen syndrome, MIM# 216550 Tags
Green Green List (high evidence)	VPS45 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags treatable
Green Green List (high evidence)	VPS45 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Tags treatable
Green Green List (high evidence)	WAS Phagocyte Defects v2.3	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 Disease associations Neutropaenia, severe congenital, X-linked, MIM# 300299 Tags
Green Green List (high evidence)	WAS Combined Immunodeficiency v2.10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Australian Genomics Health Alliance Immunology Flagship Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital, X-linked MIM# 300299 Wiskott-Aldrich syndrome MIM# 301000 Thrombocytopaenia, X-linked MIM# 313900 Tags
Green Green List (high evidence)	WAS Predominantly Antibody Deficiency v2.9	2 reviews 2 green	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WAS Inflammatory bowel disease v1.4	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	WAS Bone Marrow Failure v2.9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Disease associations Wiskott-Aldrich syndrome, MIM# 301000 Thrombocytopenia, X-linked, MIM# 313900 Tags
Green Green List (high evidence)	WDR1 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Tags
Green Green List (high evidence)	WDR1 Phagocyte Defects v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 Predominantly Antibody Deficiency v2.9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations Wiskott-Aldrich syndrome 2, MIM# 614493 Tags
Green Green List (high evidence)	WIPF1 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	WRAP53 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Tags
Green Green List (high evidence)	XIAP Disorders of immune dysregulation v2.11	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 Disease associations Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags treatable
Green Green List (high evidence)	XIAP Predominantly Antibody Deficiency v2.9	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 Disease associations Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags
Green Green List (high evidence)	XIAP Susceptibility to Viral Infections v2.0	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Disease associations Lymphoproliferative syndrome, X-linked, 2 300635 Host response to EBV Tags
Green Green List (high evidence)	XIAP Inflammatory bowel disease v1.4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations X-linked lymphoproliferative syndrome 2 inflammatory bowel disease colitis Tags
Green Green List (high evidence)	XRCC2 Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group U, MIM# 617247 Tags
Green Green List (high evidence)	ZAP70 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 48, MIM# 269840 Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Tags
Green Green List (high evidence)	ZAP70 Disorders of immune dysregulation v2.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Tags
Green Green List (high evidence)	ZBTB24 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	ZCCHC8 Bone Marrow Failure v2.9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Tags
Green Green List (high evidence)	ZNF341 Combined Immunodeficiency v2.10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Disease associations 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 v2.0	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Green Green List (high evidence)	ZNFX1 Autoinflammatory Disorders v3.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Immunodeficiency 91 and hyperinflammation, MIM# 619644 Tags
Green Green List (high evidence)	ZNFX1 Defects of intrinsic and innate immunity v2.3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Literature Disease associations immunodeficiency 91 and hyperinflammation MONDO:0030491 Tags
Amber Amber List (moderate evidence)	ACTB Phagocyte Defects v2.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Baraitser-Winter syndrome 1, MIM# 243310 Tags
Amber Amber List (moderate evidence)	ALPI Inflammatory bowel disease v1.4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Inflammatory bowel disease, MONDO:0005265, ALPI-related Tags
Amber Amber List (moderate evidence)	ANGPT1 Hereditary angioedema v2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Disease associations Hereditary angioedema-5 (HAE5), MIM#619361 Tags
Amber Amber List (moderate evidence)	AP1S3 Autoinflammatory Disorders v3.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Psoriasis 15, pustular, susceptibility to} 616106 Tags
Amber Amber List (moderate evidence)	ARHGEF1 Predominantly Antibody Deficiency v2.9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Disease associations Immunodeficiency 62, MIM#618459 Tags
Amber Amber List (moderate evidence)	B2M Combined Immunodeficiency v2.10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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
Amber Amber List (moderate evidence)	BIRC3 Inflammatory bowel disease v1.4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778 Tags
Amber Amber List (moderate evidence)	BIRC3 Autoinflammatory Disorders v3.17	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778 Tags
Amber Amber List (moderate evidence)	C4A Complement Deficiencies v2.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C4a deficiency MIM#614380 susceptibility systemic lupus erythematosus Tags for review SV/CNV
Amber Amber List (moderate evidence)	C4B Complement Deficiencies v2.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations susceptibility to autoimmune disease C4B deficiency MIM#614379 Tags SV/CNV
Amber Amber List (moderate evidence)	C8A Complement Deficiencies v2.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations C8 deficiency, type I MIM#613790 Tags
Amber Amber List (moderate evidence)	CARD8 Inflammatory bowel disease v1.4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Inflammatory bowel disease-30, MIM#619079 Tags
Amber Amber List (moderate evidence)	CASP10 Autoimmune Lymphoproliferative Syndrome v2.0	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Amber Amber List (moderate evidence)	CASP10 Disorders of immune dysregulation v2.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Autoimmune lymphoproliferative syndrome, type II MIM#603909 Tags
Amber Amber List (moderate evidence)	CD274 Autoinflammatory Disorders v3.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235 Tags
Amber Amber List (moderate evidence)	CD274 Disorders of immune dysregulation v2.11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235 Tags
Amber Amber List (moderate evidence)	CD28 Susceptibility to Viral Infections v2.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 isolated susceptibility to cutaneous α- and γ-HPVs Tags
Amber Amber List (moderate evidence)	CD28 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Tags
Amber Amber List (moderate evidence)	CD48 Autoinflammatory Disorders v3.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, CD48-related Tags
Amber Amber List (moderate evidence)	CD48 Disorders of immune dysregulation v2.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, CD48-related Tags
Amber Amber List (moderate evidence)	CD8A Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations CD8 deficiency, familial, MIM# 608957 Tags
Amber Amber List (moderate evidence)	CEBPE Autoinflammatory Disorders v3.17	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 108 with autoinflammation , MIM# 260570 Tags
Amber Amber List (moderate evidence)	COPG1 Combined Immunodeficiency v2.10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 128, MIM# 620983 Tags
Amber Amber List (moderate evidence)	COPZ1 Phagocyte Defects v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439 Tags
Amber Amber List (moderate evidence)	CSF3 Phagocyte Defects v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations autosomal recessive severe congenital neutropenia MONDO:0028226 Tags
Amber Amber List (moderate evidence)	CTNNBL1 Predominantly Antibody Deficiency v2.9	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Literature Expert Review Amber Literature Disease associations common variable immunodeficiency MONDO:0015517 Tags
Amber Amber List (moderate evidence)	CXCR4 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations WHIM syndrome, MIM# 193670 Tags
Amber Amber List (moderate evidence)	CYBC1 Inflammatory bowel disease v1.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Chronic granulomatous disease Tags
Amber Amber List (moderate evidence)	DMRT2 Severe Combined Immunodeficiency v2.6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 Tags
Amber Amber List (moderate evidence)	DNAJC17 Autoinflammatory Disorders v3.17	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Inborn error of immunity, MONDO:0003778, DNAJC17-related Tags
Amber Amber List (moderate evidence)	DOCK2 Disorders of immune dysregulation v2.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Tags
Amber Amber List (moderate evidence)	DUOXA1 Disorders of immune dysregulation v2.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Disease associations Inborn error of immunity, MONDO:0003778 Tags
Amber Amber List (moderate evidence)	EPCAM Inflammatory bowel disease v1.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217 Tags
Amber Amber List (moderate evidence)	ERBIN Combined Immunodeficiency v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations 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 v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 20, MIM# 615707 Tags
Amber Amber List (moderate evidence)	FCGR3A Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 20, MIM# 615707 Tags
Amber Amber List (moderate evidence)	FGL2 Disorders of immune dysregulation v2.11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Autoinflammatory syndrome, MONDO:0019751, FGL2-related Tags
Amber Amber List (moderate evidence)	FGR Autoinflammatory Disorders v3.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Inborn error of immunity, MONDO:0003778, FGR-related Tags
Amber Amber List (moderate evidence)	FLT3LG Bone Marrow Failure v2.9	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 125, MIM# 620926 Tags
Amber Amber List (moderate evidence)	FLT3LG Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations ?Immunodeficiency 125 MIM#620926 Tags
Amber Amber List (moderate evidence)	FOXI3 Combined Immunodeficiency v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations thymic dysplasia MONDO:0004195 Tags
Amber Amber List (moderate evidence)	GATA3 Disorders of immune dysregulation v2.11	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Immune dysregulation Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Tags
Amber Amber List (moderate evidence)	GCC2 Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, GCC2-related Tags
Amber Amber List (moderate evidence)	GINS4 Combined Immunodeficiency v2.10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations combined immunodeficiency MONDO:0015131 Tags
Amber Amber List (moderate evidence)	GPR15 Disorders of immune dysregulation v2.11	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations inflammatory bowel disease MONDO:0005265 Tags
Amber Amber List (moderate evidence)	GPR15 Inflammatory bowel disease v1.4	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations inflammatory bowel disease MONDO:0005265 Tags
Amber Amber List (moderate evidence)	GUK1 Combined Immunodeficiency v2.10	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Mitochondrial DNA depletion syndrome 21, MIM# 621071 Tags
Amber Amber List (moderate evidence)	HOXA11 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 Tags
Amber Amber List (moderate evidence)	HSPA1L Inflammatory bowel disease v1.4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations inflammatory bowel disease, MONDO:0005265, HSPA1L-related Tags
Amber Amber List (moderate evidence)	ICOSLG Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Immunodeficiency 119, MIM# 620825 Combined immunodeficiency recurrent bacterial and viral infections neutropaenia Tags
Amber Amber List (moderate evidence)	IFNG Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations inherited susceptibility to mycobacterial diseases MONDO:0019146 Tags
Amber Amber List (moderate evidence)	IGKC Predominantly Antibody Deficiency v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 Tags
Amber Amber List (moderate evidence)	IKBKE Defects of intrinsic and innate immunity v2.3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Literature Disease associations Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Tags
Amber Amber List (moderate evidence)	IKBKE Susceptibility to Viral Infections v2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Tags
Amber Amber List (moderate evidence)	IL18BP Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert list Disease associations {Hepatitis, fulminant viral, susceptibility to} 618549 Tags
Amber Amber List (moderate evidence)	IL18BP Susceptibility to Viral Infections v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations {Hepatitis, fulminant viral, susceptibility to} 618549 Tags
Amber Amber List (moderate evidence)	IL27RA Susceptibility to Viral Infections v2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405 Tags
Amber Amber List (moderate evidence)	IL27RA Disorders of immune dysregulation v2.11	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Literature Disease associations Immunodeficiency 134 (Epstein-Barr virus-specific), MIM# 621405 Tags
Amber Amber List (moderate evidence)	INO80 Predominantly Antibody Deficiency v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Primary immunodeficiency, MONDO:0003778 Tags
Amber Amber List (moderate evidence)	IRAK2 Autoinflammatory Disorders v3.17	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immune dysregulation, MONDO:0957790, IRAK2-related Tags
Amber Amber List (moderate evidence)	IRAK2 Defects of intrinsic and innate immunity v2.3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immune dysregulation, MONDO:0957790, IRAK2-related Tags
Amber Amber List (moderate evidence)	IRF3 Susceptibility to Viral Infections v2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532 Tags
Amber Amber List (moderate evidence)	IRF3 Defects of intrinsic and innate immunity v2.3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Expert Review Amber Expert list Disease associations encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Tags
Amber Amber List (moderate evidence)	IRF9 Defects of intrinsic and innate immunity v2.3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Expert list Disease associations immunodeficiency 65, susceptibility to viral infections MONDO:0032848 Tags
Amber Amber List (moderate evidence)	IRF9 Susceptibility to Viral Infections v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Immunodeficiency 65, susceptibility to viral infections 618648 Tags
Amber Amber List (moderate evidence)	JAK1 Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Susceptibility to mycobacteria and viruses Viral infections Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Tags
Amber Amber List (moderate evidence)	KIF23 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Anaemia, congenital dyserythropoietic, type IIIA 105600 Tags
Amber Amber List (moderate evidence)	KMT2A Combined Immunodeficiency v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Wiedemann-Steiner syndrome MIM#605130 Tags
Amber Amber List (moderate evidence)	LAMTOR2 Phagocyte Defects v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Tags
Amber Amber List (moderate evidence)	LCP2 Severe Combined Immunodeficiency v2.6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Expert Review Amber Literature Disease associations Immunodeficiency 81, MIM# 619374 Severe combined immunodeficiency Tags
Amber Amber List (moderate evidence)	MADD Disorders of immune dysregulation v2.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations HLH, enteropathy Tags
Amber Amber List (moderate evidence)	MAN2B2 Combined Immunodeficiency v2.10	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related Combined Immune deficiency Tags
Amber Amber List (moderate evidence)	MAPK8 Defects of intrinsic and innate immunity v2.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Literature Disease associations Chronic mucocutaneous candidiasis Connective tissue disorders Tags
Amber Amber List (moderate evidence)	MASTL Bone Marrow Failure v2.9	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	MCM10 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Tags
Amber Amber List (moderate evidence)	MCM10 Susceptibility to Viral Infections v2.0	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313 Susceptibility to CMV Tags
Amber Amber List (moderate evidence)	MCM4 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations 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)	MMD2 Phagocyte Defects v2.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Periodontitis, MONDO:0005076, MMD2-related Tags
Amber Amber List (moderate evidence)	MPO Phagocyte Defects v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations myeloperoxidase deficiency MONDO:0009694 Tags
Amber Amber List (moderate evidence)	MS4A1 Predominantly Antibody Deficiency v2.9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 5, MIM# 613495 Tags
Amber Amber List (moderate evidence)	MYB Combined Immunodeficiency v2.10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations combined immunodeficiency, MONDO:0015131 Tags
Amber Amber List (moderate evidence)	MYB Bone Marrow Failure v2.9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Literature Disease associations combined immunodeficiency, MONDO:0015131 Tags
Amber Amber List (moderate evidence)	MYOF Hereditary angioedema v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Hereditary angioedema-7 (HAE7), MIM#619366 Tags
Amber Amber List (moderate evidence)	NFAT5 Disorders of immune dysregulation v2.11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immune deficiency disease, MONDO:0003778, NFAT5-related Recurrent infections Autoimmune enterocolopathy EBV susceptibility HLH Tags
Amber Amber List (moderate evidence)	NFATC1 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Inborn error of immunity, MONDO:0003778, NFATC1-related Combined Immune deficiency Tags
Amber Amber List (moderate evidence)	NFATC2 Disorders of immune dysregulation v2.11	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Disease associations Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Tags
Amber Amber List (moderate evidence)	NFATC2 Susceptibility to Viral Infections v2.0	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Tags
Amber Amber List (moderate evidence)	NFE2 Bone Marrow Failure v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Disease associations thrombocytopenia MONDO:0002049, NFE2-related Tags
Amber Amber List (moderate evidence)	NLRC4 Inflammatory bowel disease v1.4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Autoinflammation with infantile enterocolitis, MIM# 616050 Tags
Amber Amber List (moderate evidence)	NOP10 Bone Marrow Failure v2.9	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 Tags
Amber Amber List (moderate evidence)	NOX1 Inflammatory bowel disease v1.4	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Disease associations Inflammatory bowel disease, MONDO:0005265, NOX1-related Tags
Amber Amber List (moderate evidence)	P2RY8 Disorders of immune dysregulation v2.11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Tags
Amber Amber List (moderate evidence)	PAX5 Predominantly Antibody Deficiency v2.9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Disease associations Neurodevelopmental disorder MONDO:0700092, PAX5-related Hypogammaglobulinaemia Tags
Amber Amber List (moderate evidence)	PI4KA Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Tags
Amber Amber List (moderate evidence)	PIK3CG Predominantly Antibody Deficiency v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 97 with autoinflammation, MIM# 619802 Humoral deficiency Immune dysregulation HLH Tags
Amber Amber List (moderate evidence)	PMS2 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Mismatch repair cancer syndrome, MIM# 276300 Tags
Amber Amber List (moderate evidence)	POLD2 Combined Immunodeficiency v2.10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations 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)	POLD3 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Immunodeficiency 122, MIM# 620869 Tags
Amber Amber List (moderate evidence)	POLD3 Severe Combined Immunodeficiency v2.6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 122, MIM# 620869 Tags
Amber Amber List (moderate evidence)	POLR3A Defects of intrinsic and innate immunity v2.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Expert list Disease associations varicella zoster infection MONDO:0005608 Tags
Amber Amber List (moderate evidence)	POLR3A Susceptibility to Viral Infections v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Severe VZV infection Tags
Amber Amber List (moderate evidence)	POLR3C Defects of intrinsic and innate immunity v2.3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Expert Review Amber Expert list Disease associations varicella zoster infection MONDO:0005608 Tags
Amber Amber List (moderate evidence)	POLR3C Susceptibility to Viral Infections v2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Severe VZV infection Tags
Amber Amber List (moderate evidence)	POU2AF1 Predominantly Antibody Deficiency v2.9	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Literature Disease associations Agammaglobulinaemia, MONDO:0015977, POU2AF1-related Tags
Amber Amber List (moderate evidence)	PSMA3 Autoinflammatory Disorders v3.17	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 Tags
Amber Amber List (moderate evidence)	PSMB4 Autoinflammatory Disorders v3.17	1 review	Other	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Tags
Amber Amber List (moderate evidence)	PTPN13 Bone Marrow Failure v2.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations bone marrow failure syndrome MONDO#0000159, PTPN13-related Tags
Amber Amber List (moderate evidence)	RAD51C Bone Marrow Failure v2.9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group O, MIM# 613390 Tags
Amber Amber List (moderate evidence)	RAP1B Bone Marrow Failure v2.9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Amber Amber List (moderate evidence)	RASGRP1 Autoimmune Lymphoproliferative Syndrome v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 64 MIM#618534 Tags
Amber Amber List (moderate evidence)	RC3H1 Autoinflammatory Disorders v3.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Relapsing HLH Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998 Tags
Amber Amber List (moderate evidence)	REXO2 Autoinflammatory Disorders v3.17	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Tags
Amber Amber List (moderate evidence)	RFWD3 Bone Marrow Failure v2.9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Fanconi anemia, complementation group W, MIM# 617784 Tags
Amber Amber List (moderate evidence)	RHOG Disorders of immune dysregulation v2.11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Genetic HLH, MONDO:0015541, RHOG-related Tags
Amber Amber List (moderate evidence)	RHOH Combined Immunodeficiency v2.10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Tags
Amber Amber List (moderate evidence)	RIPK3 Susceptibility to Viral Infections v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Recurrent HSV encephalitis Tags
Amber Amber List (moderate evidence)	RIPK3 Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Tags
Amber Amber List (moderate evidence)	RNASEL Defects of intrinsic and innate immunity v2.3	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Expert Review Amber Literature Disease associations Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Tags
Amber Amber List (moderate evidence)	RNASEL Susceptibility to Viral Infections v2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Tags
Amber Amber List (moderate evidence)	RPL18 Bone Marrow Failure v2.9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Diamond-Blackfan anemia 18, MIM# 618310 Tags
Amber Amber List (moderate evidence)	RPL27 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 16, MIM# 617408 Tags
Amber Amber List (moderate evidence)	RPL31 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPL8 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Diamond-Blackfan anemia MONDO:0015253 Tags
Amber Amber List (moderate evidence)	RPL9 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS20 Bone Marrow Failure v2.9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Expert Review Amber Literature Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS29 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 13, MIM# 615909 Tags
Amber Amber List (moderate evidence)	SCGN Autoinflammatory Disorders v3.17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations ulcerative colitis, MONDO:0005101 Tags
Amber Amber List (moderate evidence)	SEPTIN6 Phagocyte Defects v2.3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, SEPTIN6-related Tags
Amber Amber List (moderate evidence)	SEPTIN6 Bone Marrow Failure v2.9	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, SEPTIN6-related Tags
Amber Amber List (moderate evidence)	SERPINA3 Autoinflammatory Disorders v3.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Pustular psoriasis, MONDO:0022205 Tags
Amber Amber List (moderate evidence)	SH3KBP1 Predominantly Antibody Deficiency v2.9	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Disease associations Immunodeficiency 61, MIM# 300310 Tags SV/CNV
Amber Amber List (moderate evidence)	SLC19A1 Combined Immunodeficiency v2.10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Combined immunodeficiency, SLC19A1-related MONDO:0015131 Tags
Amber Amber List (moderate evidence)	SLC9A3 Inflammatory bowel disease v1.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Disease associations Diarrhoea 8, secretory sodium, congenital 616868 Very Early Onset Inflammatory Bowel Disease Tags
Amber Amber List (moderate evidence)	SRP19 Phagocyte Defects v2.3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neutropenia, MONDO:0001475, SRP19-related Tags
Amber Amber List (moderate evidence)	SRP19 Bone Marrow Failure v2.9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neutropenia, MONDO:0001475, SRP19-related Tags
Amber Amber List (moderate evidence)	SRP68 Phagocyte Defects v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534 Tags
Amber Amber List (moderate evidence)	SRP72 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Bone marrow failure syndrome 1, MIM# 614675 Tags disputed
Amber Amber List (moderate evidence)	SRPRA Phagocyte Defects v2.3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Tags
Amber Amber List (moderate evidence)	SRPRA Bone Marrow Failure v2.9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Tags
Amber Amber List (moderate evidence)	TAPBP Combined Immunodeficiency v2.10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Bare lymphocyte syndrome, type I, MIM# 604571 MHC class I deficiency 3, MIM# 620814 Tags SV/CNV
Amber Amber List (moderate evidence)	TBX21 Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 88, MIM# 619630 Susceptibility to mycobacterial disease Tags
Amber Amber List (moderate evidence)	TERC Combined Immunodeficiency v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags non-coding gene
Amber Amber List (moderate evidence)	TERT Combined Immunodeficiency v2.10	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989 {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Tags non-coding gene
Amber Amber List (moderate evidence)	TGFB1 Inflammatory bowel disease v1.4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Tags
Amber Amber List (moderate evidence)	TGFB1 Disorders of immune dysregulation v2.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Disease associations Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213 Tags
Amber Amber List (moderate evidence)	THRA Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Disease associations Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags
Amber Amber List (moderate evidence)	TINF2 Combined Immunodeficiency v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Amber Amber List (moderate evidence)	TNFRSF13C Predominantly Antibody Deficiency v2.9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 4, MIM# 613494 Tags
Amber Amber List (moderate evidence)	TNK2 Disorders of immune dysregulation v2.11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Disease associations late onset infantile epilepsy Mayer-Rokitansky-Küster-Hauser syndrome Tags
Amber Amber List (moderate evidence)	TOM1 Autoinflammatory Disorders v3.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Immunodeficiency 85 and autoimmunity MIM#619510 Tags
Amber Amber List (moderate evidence)	TOM1 Combined Immunodeficiency v2.10	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Immunodeficiency 85 and autoimmunity, MIM# 619510 Tags
Amber Amber List (moderate evidence)	TP53 Bone Marrow Failure v2.9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Disease associations Bone marrow failure syndrome 5, MIM# 618165 Tags
Amber Amber List (moderate evidence)	TYMS Bone Marrow Failure v2.9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Dyskeratosis congenita, digenic, MIM#620040 Tags digenic
Amber Amber List (moderate evidence)	UNC93B1 Susceptibility to Viral Infections v2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Tags
Amber Amber List (moderate evidence)	UNC93B1 Defects of intrinsic and innate immunity v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Tags
Amber Amber List (moderate evidence)	WIPF1 Phagocyte Defects v2.3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Wiskott-Aldrich syndrome 2, MIM# 614493 Tags
Amber Amber List (moderate evidence)	ZAP70 Inflammatory bowel disease v1.4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Disease associations Autoimmune disease, multisystem, infantile-onset, 2 inflammatory colitis Tags
Amber Amber List (moderate evidence)	ZBTB7B Combined Immunodeficiency v2.10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Inborn error of immunity, MONDO:0003778, ZBTB7B-related Tags
Red Red List (low evidence)	AMFR Disorders of immune dysregulation v2.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Disease associations Inborn error of immunity, MONDO:0003778, AMFR-related Tags
Red Red List (low evidence)	AP1M2 Autoinflammatory Disorders v3.17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Inborn error of immunity, MONDO:0003778 Tags
Red Red List (low evidence)	APOBEC2 Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Inborn error of immunity, MONDO:0003778, APOBEC2-related Tags
Red Red List (low evidence)	APOL1 Defects of intrinsic and innate immunity v2.3	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551 Tags
Red Red List (low evidence)	ASXL1 Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Combined immunodeficiency, MONDO:0015131, ASXL1-related Tags
Red Red List (low evidence)	ATG4A Defects of intrinsic and innate immunity v2.3	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Expert list Disease associations infectious meningitis MONDO:0004796 Tags
Red Red List (low evidence)	ATG9A Disorders of immune dysregulation v2.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Autophagy-associated immune dysregulation and hyperplasia Tags
Red Red List (low evidence)	BCAS2 Predominantly Antibody Deficiency v2.9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Hyper IgM syndrome, MONDO:0003947, BCAS2-related Tags
Red Red List (low evidence)	BLK Predominantly Antibody Deficiency v2.9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Common variable immunodeficiency, MONDO:0015517 Tags
Red Red List (low evidence)	C8G Complement Deficiencies v2.7	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 v2.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Immunodeficiency 89 and autoimmunity, MIM# 619632 Tags
Red Red List (low evidence)	CASP1 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, CASP1-related Absent IL18 and lymphopenia but no clinical disease Tags
Red Red List (low evidence)	CASP4 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hereditary susceptibility to infection, MONDO:0015979, CASP4-related Susceptibility to meliodiosis Tags
Red Red List (low evidence)	CFHR4 Complement Deficiencies v2.7	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)	COL7A1 Inflammatory bowel disease v1.4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Epidermolysis bullosa dystrophica, AR, MIM# 226600 Tags
Red Red List (low evidence)	CRACR2A Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated late onset combined immunodeficiency Tags
Red Red List (low evidence)	DBF4 Phagocyte Defects v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations severe congenital neutropenia MONDO:0018542 Tags
Red Red List (low evidence)	DCLRE1B Combined Immunodeficiency v2.10	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome Tags
Red Red List (low evidence)	ERN1 Disorders of immune dysregulation v2.11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Immune dysregulation Tags
Red Red List (low evidence)	FAAP24 Disorders of immune dysregulation v2.11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Immunodeficiency-associated lymphoproliferative disease, MONDO:0020083, FAAP24-related Tags disputed
Red Red List (low evidence)	FANCM Bone Marrow Failure v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Fanconi anaemia Tags refuted
Red Red List (low evidence)	FBXW11 Autoinflammatory Disorders v3.17	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Autoinflammatory disorder MONDO:0019751, FBXW11-related Tags
Red Red List (low evidence)	FCN3 Complement Deficiencies v2.7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 Tags
Red Red List (low evidence)	FECH Bone Marrow Failure v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Protoporphyria, erythropoietic, 1, MIM# 177000 Tags
Red Red List (low evidence)	FERMT1 Inflammatory bowel disease v1.4	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Kindler syndrome, MIM# 173650 Tags
Red Red List (low evidence)	FMNL2 Inflammatory bowel disease v1.4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations inflammatory bowel disease, MONDO:0005265, FMNL2-related Tags
Red Red List (low evidence)	FPR1 Phagocyte Defects v2.3	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Periodontitis Tags
Red Red List (low evidence)	FUT2 Susceptibility to Viral Infections v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Norwalk virus infection, resistance to Tags
Red Red List (low evidence)	GTF3A Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations herpes simplex encephalitis MONDO:0012521 Tags
Red Red List (low evidence)	HS3ST6 Hereditary angioedema v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Hereditary angioedema-8 (HAE8), MIM#619367 Tags
Red Red List (low evidence)	IL12RB2 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Immunodeficiency disease MONDO:0021094, IL12RB1-related Susceptibility to mycobacteria and Salmonella Tags
Red Red List (low evidence)	IL17F Defects of intrinsic and innate immunity v2.3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Candidiasis, familial, 6, autosomal dominant, MIM# 613956 Tags
Red Red List (low evidence)	IL1R1 Autoinflammatory Disorders v3.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Chronic recurrent multifocal osteomyelitis 3, MIM# 259680 Tags
Red Red List (low evidence)	IL21 Combined Immunodeficiency v2.10	1 review 1 red	Unknown	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency, common variable, 11, MIM# 615767 Tags
Red Red List (low evidence)	IL21 Inflammatory bowel disease v1.4	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Disease associations Immunodeficiency, common variable, 11, MIM# 615767 Tags
Red Red List (low evidence)	IL37 Inflammatory bowel disease v1.4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inflammatory bowel disease (infantile ulcerative colitis) 31, MIM# 619398 Tags
Red Red List (low evidence)	IL6ST Autoinflammatory Disorders v3.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Immunodeficiency 94 with autoinflammation and dysmorphic facies 619750 Tags
Red Red List (low evidence)	IRAK1 Defects of intrinsic and innate immunity v2.3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert list Disease associations Susceptibility to bacterial infections Tags SV/CNV
Red Red List (low evidence)	ITGAM Complement Deficiencies v2.7	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 v2.6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Severe combined immunodeficiency, absent T cells, present B cells and NK cells Tags
Red Red List (low evidence)	LSM11 Autoinflammatory Disorders v3.17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Aicardi-Goutieres syndrome MONDO:0018866 Tags
Red Red List (low evidence)	LY96 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Inborn error of immunity, MONDO:0003778, LY96-related Tags
Red Red List (low evidence)	LY96 Inflammatory bowel disease v1.4	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, LY96-related Colitis Tags
Red Red List (low evidence)	MAD2L2 Bone Marrow Failure v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Fanconi anemia, complementation group V, MIM# 617243 Tags
Red Red List (low evidence)	MAP1LC3B2 Defects of intrinsic and innate immunity v2.3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Disease associations 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 v2.7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations MASP2 deficiency, MIM# 613791 Tags
Red Red List (low evidence)	MSH6 Predominantly Antibody Deficiency v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Mismatch repair cancer syndrome 3 MIM#619097 constitutional mismatch repair deficiency immunodeficiency Tags
Red Red List (low evidence)	NFKBID Predominantly Antibody Deficiency v2.9	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 v2.10	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 v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Recurrent respiratory papillomatosis Tags
Red Red List (low evidence)	NOP10 Combined Immunodeficiency v2.10	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 Disease associations Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Tags
Red Red List (low evidence)	NOS2 Susceptibility to Viral Infections v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Disseminated CMV disease Tags
Red Red List (low evidence)	NOS2 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Expert list Disease associations inborn error of immunity MONDO:0003778 Tags
Red Red List (low evidence)	OAS1 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Multisystem inflammatory syndrome in children and adults MONDO:0035375 Tags
Red Red List (low evidence)	PACSIN1 Disorders of immune dysregulation v2.11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations systemic lupus erythematosis vasculitis nephritis Tags
Red Red List (low evidence)	PDCD1 Disorders of immune dysregulation v2.11	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Autoimmune disease with susceptibility to mycobacterium tuberculosis, MIM# 621004 Tags
Red Red List (low evidence)	PMM2 Inflammatory bowel disease v1.4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Congenital disorder of glycosylation, type Ia, MIM# 212065 Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease Tags
Red Red List (low evidence)	POLE Bone Marrow Failure v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations MONDO:0002254 syndromic disease Tags
Red Red List (low evidence)	POLE2 Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Combined immunodeficiency MONDO:0015131, POLE2-related Tags
Red Red List (low evidence)	POLR3F Susceptibility to Viral Infections v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Tags
Red Red List (low evidence)	POLR3F Defects of intrinsic and innate immunity v2.3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Expert list Disease associations Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872 Tags
Red Red List (low evidence)	PSMA5 Autoinflammatory Disorders v3.17	1 review 1 red	Other	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, PSMA5-related PRAAS/CANDLE Tags
Red Red List (low evidence)	PSMB10 Severe Combined Immunodeficiency v2.6	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Red Expert Review Red Literature Disease associations Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Tags
Red Red List (low evidence)	PSMG2 Autoinflammatory Disorders v3.17	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations 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 v1.4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Colitis Tags
Red Red List (low evidence)	QSER1 Autoinflammatory Disorders v3.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Literature Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, QSER1-related Tags
Red Red List (low evidence)	RAD51 Bone Marrow Failure v2.9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Fanconi anemia complementation group R MONDO:0014986 Tags
Red Red List (low evidence)	RBSN Bone Marrow Failure v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939 Tags
Red Red List (low evidence)	RC3H1 Disorders of immune dysregulation v2.11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, RC3H1-related Tags
Red Red List (low evidence)	RGS10 Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Immunodeficiency short stature Tags
Red Red List (low evidence)	RPA2 Bone Marrow Failure v2.9	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Telomere syndrome, MONDO:0100137, RPA2-related Tags
Red Red List (low evidence)	RPL35 Bone Marrow Failure v2.9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Diamond-Blackfan anemia 19, MIM# 618312 Tags
Red Red List (low evidence)	RPS15A Bone Marrow Failure v2.9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations Diamond-Blackfan anemia 20, MIM# 618313 Tags
Red Red List (low evidence)	RPS27 Bone Marrow Failure v2.9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 17, MIM# 617409 Tags
Red Red List (low evidence)	SEMA3E Combined Immunodeficiency v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations CHARGE syndrome, MIM# 214800 Tags
Red Red List (low evidence)	SIRT1 Autoinflammatory Disorders v3.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations autoimmune disease, MONDO:0007179, SIRT1-related Tags
Red Red List (low evidence)	SIT1 Combined Immunodeficiency v2.10	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, SIT1-related Tags
Red Red List (low evidence)	SKAP2 Autoinflammatory Disorders v3.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Literature Disease associations Inborn error of immunity, MONDO:0003778 Tags
Red Red List (low evidence)	SLC30A7 Bone Marrow Failure v2.9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Disease associations Ziegler-Huang syndrome, MIM# 620501 Tags
Red Red List (low evidence)	ST6GALNAC1 Inflammatory bowel disease v1.4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Disease associations Inflammatory bowel disease, MONDO:0005265, ST6GALNAC1-related Tags
Red Red List (low evidence)	TAOK2 Susceptibility to Viral Infections v2.0	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Disease associations Inborn error of immunity, MONDO:0003778, TAOK2-related Tags
Red Red List (low evidence)	THBD Complement Deficiencies v2.7	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 Tags disputed
Red Red List (low evidence)	TIRAP Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Staphylococcal disease during childhood Tags
Red Red List (low evidence)	TKFC Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Inborn error of immunity, MONDO:0003778, TKFC-related Tags
Red Red List (low evidence)	TLR1 Disorders of immune dysregulation v2.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Disease associations Inflammatory bowel disease 32, MIM# 621601 Tags
Red Red List (low evidence)	TLR4 Defects of intrinsic and innate immunity v2.3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Inflammatory bowel disease MONDO:0005265 Tags
Red Red List (low evidence)	TNFRSF4 Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Immunodeficiency 16, MIM# 615593 Tags
Red Red List (low evidence)	TNFRSF4 Susceptibility to Viral Infections v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Immunodeficiency 16, MIM# 615593 Tags
Red Red List (low evidence)	TNFSF12 Predominantly Antibody Deficiency v2.9	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Inborn error of immunity, MONDO:0003778, TNFSF12-related Tags
Red Red List (low evidence)	TNFSF13 Predominantly Antibody Deficiency v2.9	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Red Literature Disease associations Hypogammaglobulinaemia, MONDO:0015977, TNSF13-related Tags
Red Red List (low evidence)	TNFSF9 Disorders of immune dysregulation v2.11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Tags
Red Red List (low evidence)	TNFSF9 Susceptibility to Viral Infections v2.0	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related Tags
Red Red List (low evidence)	TPP1 Combined Immunodeficiency v2.10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations Hoyeraal-Hreidarsson syndrome Tags
Red Red List (low evidence)	TRAF3 Defects of intrinsic and innate immunity v2.3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Tags
Red Red List (low evidence)	TRAF3 Susceptibility to Viral Infections v2.0	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Disease associations {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 Tags
Red Red List (low evidence)	TRIM69 Susceptibility to Viral Infections v2.0	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Disease associations Susceptibility to herpes simplex encephalitis Tags
Red Red List (low evidence)	TSR2 Bone Marrow Failure v2.9	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Tags
Red Red List (low evidence)	UNC119 Combined Immunodeficiency v2.10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Disease associations ?Immunodeficiency 13 MIM#615518 Tags
Red Red List (low evidence)	ZNF334 Autoinflammatory Disorders v3.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Literature Disease associations Familial cold autoinflammatory syndrome, MONDO:0018768, ZNF334-related Tags
No list No list	OTUD3 Inflammatory bowel disease v1.4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Disease associations Ulcerative colitis Tags

Immunological disorders_SuperPanel (Version 15.329)

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