Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCB7 gene ABCB7 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, MIM# 301310 Abnormality of the immune system;HP:0002715 10196363 False 3 100;0;0 13.3 True ENSG00000131269 ENSG00000131269 HGNC:48 ACD gene ACD Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal telomere syndrome MONDO:0100137;dyskeratosis congenita, autosomal dominant 6 MONDO:0014690;Hoyeraal-Hreidarsson syndrome MONDO:0018045 Abnormality of the immune system;HP:0002715 27807141;31515401;30995915;27528712;25205116;24316971;30064976;33446513;25233904 False 3 67;0;33 13.3 True ENSG00000102977 ENSG00000102977 HGNC:25070 ACP5 gene ACP5 Expert Review Green;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944;Short stature;SLE, thrombocytopenia and autoimmune haemolytic anaemia;Possibly recurrent bacterial and viral infections" Abnormality of the immune system;HP:0002715 26951490;21217755;26789720;26346816 False 3 100;0;0 13.3 True ENSG00000102575 ENSG00000102575 HGNC:124 ACP5 gene ACP5 Expert Review Green;Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000102575 ENSG00000102575 HGNC:124 ACTB gene ACTB Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Abnormality of the immune system;HP:0002715 PMID: 30315159 False 3 100;0;0 13.3 True ENSG00000075624 ENSG00000075624 HGNC:132 ADA gene ADA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, MIM# 102700;MONDO:0007064 Abnormality of the immune system;HP:0002715 3007108;3475710;8178821;8227344;2783588 False 3 100;0;0 13.3 True ENSG00000196839 ENSG00000196839 HGNC:186 ADA gene ADA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, MIM# 102700;MONDO:0007064 Abnormality of the immune system;HP:0002715 3007108;3475710;8178821;8227344;2783588 False 3 100;0;0 13.3 True ENSG00000196839 ENSG00000196839 HGNC:186 ADA gene ADA Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Abnormality of the immune system;HP:0002715 24552284;24552285;33791889 False 3 100;0;0 13.3 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADA2 gene ADA2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688;common variable immunodeficiency Abnormality of the immune system;HP:0002715 26922074;29963054;32659374;24552284;28493328;28493328 False 3 100;0;0 13.3 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADA2 gene ADA2 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADA2 gene ADA2 Expert Review Green;Expert Review Green;Literature;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Abnormality of the immune system;HP:0002715 24552284;24552285 False 3 100;0;0 13.3 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADA2 gene ADA2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688" Abnormality of the immune system;HP:0002715 39060684;29271561;30692987;34721429 False 3 100;0;0 13.3 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAM17 gene ADAM17 Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328;Recurrent infections Abnormality of the immune system;HP:0002715 22010916;29560122;26683521;25804906 False 3 100;0;0 13.3 True ENSG00000151694 ENSG00000151694 HGNC:195 ADAM17 gene ADAM17 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328;Recurrent infections Abnormality of the immune system;HP:0002715 22010916;29560122;26683521;25804906 False 3 100;0;0 13.3 True ENSG00000151694 ENSG00000151694 HGNC:195 ADAR gene ADAR Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 6, MIM# 615010" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000160710 ENSG00000160710 HGNC:225 ADAR gene ADAR Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000160710 ENSG00000160710 HGNC:225 ADH5 gene ADH5 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal AMED syndrome, digenic, MIM# 619151;Aplastic anaemia;myelodysplasia;short stature Abnormality of the immune system;HP:0002715 33147438 False 3 100;0;0 13.3 True ENSG00000197894 ENSG00000197894 HGNC:253 AICDA gene AICDA Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000111732 ENSG00000111732 HGNC:13203 AICDA gene AICDA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Abnormality of the immune system;HP:0002715 11007475 False 3 100;0;0 13.3 True ENSG00000111732 ENSG00000111732 HGNC:13203 AIRE gene AIRE Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300" Abnormality of the immune system;HP:0002715 PMID: 30510552 False 3 100;0;0 13.3 True ENSG00000160224 ENSG00000160224 HGNC:360 AIRE gene AIRE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500;Combined immunodeficiency;neutropaenia;leukopaenia;lymphopaenia;agranulocytosis;deafness;MONDO:0009973 Abnormality of the immune system;HP:0002715 19043417;19043416 False 3 100;0;0 13.3 True ENSG00000004455 ENSG00000004455 HGNC:362 AK2 gene AK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis MIM# 267500;MONDO:0009973;Combined immunodeficiency;neutropaenia;leukopaenia;lymphopaenia;agranulocytosis;deafness Abnormality of the immune system;HP:0002715 19043417;19043416;33628209 False 3 100;0;0 13.3 True ENSG00000004455 ENSG00000004455 HGNC:362 AK2 gene AK2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, MIM# 267500;MONDO:0009973 Abnormality of the immune system;HP:0002715 19043416;19043417 False 3 100;0;0 13.3 True ENSG00000004455 ENSG00000004455 HGNC:362 ALAS2 gene ALAS2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1, MIM# 300751 Abnormality of the immune system;HP:0002715 10029606 False 3 100;0;0 13.3 True ENSG00000158578 ENSG00000158578 HGNC:397 ALPK1 gene ALPK1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979;Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Abnormality of the immune system;HP:0002715 31053777;35868845 False 3 50;50;0 13.3 True ENSG00000073331 ENSG00000073331 HGNC:20917 ANKRD26 gene ANKRD26 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia 2, MIM# 188000 Abnormality of the immune system;HP:0002715 21211618 False 3 100;0;0 13.3 True ENSG00000107890 ENSG00000107890 HGNC:29186 ANKZF1 gene ANKZF1 Expert Review Green;Other Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related Abnormality of the immune system;HP:0002715 28302725;36857589 False 3 50;50;0 13.3 True ENSG00000163516 ENSG00000163516 HGNC:25527 AP3B1 gene AP3B1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Hermansky-Pudlak syndrome 10, MIM# 617050;Oculocutaneous albinism;Severe neutropaenia;Recurrent infections;Seizures;Hearing loss;Neurodevelopmental delay" Abnormality of the immune system;HP:0002715 26744459;9697856;30472485 False 3 50;0;50 13.3 True ENSG00000065000 ENSG00000065000 HGNC:568 ARPC1B gene ARPC1B Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718" Abnormality of the immune system;HP:0002715 28368018;33679784 False 3 100;0;0 13.3 True ENSG00000130429 ENSG00000130429 HGNC:704 ARPC5 gene ARPC5 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Abnormality of the immune system;HP:0002715 37349293;37382373 False 3 100;0;0 13.3 True ENSG00000162704 ENSG00000162704 HGNC:708 ARPC5 gene ARPC5 Expert Review Green;Expert list;Expert Review Green;Literature;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 133 with autoimmunity and autoinflammation MIM#620565" Abnormality of the immune system;HP:0002715 37382373;37349293 False 3 100;0;0 13.3 True ENSG00000162704 ENSG00000162704 HGNC:708 ARPC5 gene ARPC5 Expert Review Green;Expert list;Expert Review Green;Literature;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565 Abnormality of the immune system;HP:0002715 37349293;37382373 False 3 100;0;0 13.3 True ENSG00000162704 ENSG00000162704 HGNC:708 ATAD3A gene ATAD3A Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal inborn error of immunity MONDO:0003778;Harel-Yoon syndrome MONDO:0014958 Abnormality of the immune system;HP:0002715 34387651 False 3 100;0;0 13.3 True ENSG00000197785 ENSG00000197785 HGNC:25567 ATM gene ATM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 20301790;27884168;8689683 False 3 100;0;0 13.3 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP6AP1 gene ATP6AP1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM#300972 Abnormality of the immune system;HP:0002715 27231034 False 3 100;0;0 13.3 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP1 gene ATP6AP1 Expert Review Green;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47, MIM# 300972;Hepatopathy;Leukopenia;Low copper Abnormality of the immune system;HP:0002715 27231034 False 3 100;0;0 13.3 True ENSG00000071553 ENSG00000071553 HGNC:868 B2M gene B2M Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 43 MIM# 241600;Sinopulmonary infections;Purple-red skin lesions;Decreased serum IgG;Decreased B cells;Absent 2m associated proteins MHC-I, CD1a, CD1b, and CD1c;MONDO:0009434 Abnormality of the immune system;HP:0002715 4186801;16549777;25702838;11118151;6165007 False 3 100;0;0 13.3 True ENSG00000166710 ENSG00000166710 HGNC:914 BACH2 gene BACH2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 60, MIM# 618394;inflammatory bowel disease;recurrent sinopulmonary infections" Abnormality of the immune system;HP:0002715 28530713 False 3 100;0;0 13.3 True ENSG00000112182 ENSG00000112182 HGNC:14078 BACH2 gene BACH2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 60, MIM# 618394;inflammatory bowel disease;recurrent sinopulmonary infections" Abnormality of the immune system;HP:0002715 28530713 False 3 100;0;0 13.3 True ENSG00000112182 ENSG00000112182 HGNC:14078 BCL10 gene BCL10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 37, MIM# 616098 Abnormality of the immune system;HP:0002715 25365219;32008135;11163238;12910267 False 3 100;0;0 13.3 True ENSG00000142867 ENSG00000142867 HGNC:989 BCL11B gene BCL11B Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 49, MIM# 617237;Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM# 618092" Abnormality of the immune system;HP:0002715 29985992;27959755 False 3 100;0;0 13.3 True ENSG00000127152 ENSG00000127152 HGNC:13222 BLM gene BLM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 17407155;9285778;7585968;8079989;12242442;11101838 False 3 100;0;0 13.3 True ENSG00000197299 ENSG00000197299 HGNC:1058 BLNK gene BLNK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 4, MIM# 613502 Abnormality of the immune system;HP:0002715 10583958;32194234;25893637 False 3 100;0;0 13.3 True ENSG00000095585 ENSG00000095585 HGNC:14211 BLOC1S6 gene BLOC1S6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 9, MIM# 614171 Abnormality of the immune system;HP:0002715 32245340;33543539;29054114;26575419;22461475;10610180 False 3 50;50;0 13.3 True ENSG00000104164 ENSG00000104164 HGNC:8549 BRCA1 gene BRCA1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group S, MIM# 617883" Abnormality of the immune system;HP:0002715 23269703;29133208;25472942;29712865 False 3 100;0;0 13.3 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Abnormality of the immune system;HP:0002715 27107905 False 3 100;0;0 13.3 True ENSG00000136492 ENSG00000136492 HGNC:20473 BTK gene BTK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinaemia, X-linked 1, MIM# 300755;Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Abnormality of the immune system;HP:0002715 8013627;7849697 False 3 100;0;0 13.3 True ENSG00000010671 ENSG00000010671 HGNC:1133 BTK gene BTK Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000010671 ENSG00000010671 HGNC:1133 C15orf41 gene C15orf41 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Dyserythropoietic anemia, congenital, type Ib, MIM# 615631" Abnormality of the immune system;HP:0002715 23716552;32293259;31191338;29885034 False 3 100;0;0 13.3 True ENSG00000186073 ENSG00000186073 HGNC:26929 C17orf62 gene C17orf62 Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Chronic granulomatous disease 5, autosomal recessive, MIM# 618935" Abnormality of the immune system;HP:0002715 30361506;30312704;28351984 False 3 100;0;0 13.3 True ENSG00000178927 ENSG00000178927 HGNC:28672 C1QA gene C1QA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 Abnormality of the immune system;HP:0002715 9225968;21654842;9590289 False 3 100;0;0 13.3 True ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency, MIM# 613652 Abnormality of the immune system;HP:0002715 2894352;17513176 False 3 100;0;0 13.3 True ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1q deficiency MIM#613652 Abnormality of the immune system;HP:0002715 21654842;8630118;24157463 False 3 100;0;0 13.3 True ENSG00000159189 ENSG00000159189 HGNC:1245 C1R gene C1R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C1s deficiency MIM#613783 Abnormality of the immune system;HP:0002715 19155518;20191570;18062908;11390518;9856483 False 3 100;0;0 13.3 True ENSG00000182326 ENSG00000182326 HGNC:1247 C2 gene C2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000166278 ENSG00000166278 HGNC:1248 C2orf69 gene C2orf69 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Abnormality of the immune system;HP:0002715 34038740;33945503 False 3 100;0;0 13.3 True ENSG00000178074 ENSG00000178074 HGNC:26799 C3 gene C3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C3 deficiency MIM#613779 Abnormality of the immune system;HP:0002715 15781264;1944729;11813855;26847111 False 3 100;0;0 13.3 True ENSG00000125730 ENSG00000125730 HGNC:1318 C5 gene C5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C5 deficiency MIM#609536 Abnormality of the immune system;HP:0002715 23743184;15488949;15778377;23371790 False 3 50;50;0 13.3 True ENSG00000106804 ENSG00000106804 HGNC:1331 C6 gene C6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C6 deficiency MIM#612446 Abnormality of the immune system;HP:0002715 23537992;24378253;17257682;22668955;32670577 False 3 100;0;0 13.3 True ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C7 deficiency MIM#610102 Abnormality of the immune system;HP:0002715 22206826;20591074;17407100;16771861;16552475 False 3 100;0;0 13.3 True ENSG00000112936 ENSG00000112936 HGNC:1346 C8B gene C8B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type II MIM#613789 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000021852 ENSG00000021852 HGNC:1353 C9 gene C9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C9 deficiency MIM#613825 Abnormality of the immune system;HP:0002715 9570574;9703418;9144525;31440263;9634479 False 3 100;0;0 13.3 True ENSG00000113600 ENSG00000113600 HGNC:1358 CARD11 gene CARD11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000198286 ENSG00000198286 HGNC:16393 CARD11 gene CARD11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 11A, autosomal recessive, MIM# 615206;Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 Abnormality of the immune system;HP:0002715 23561803;12818158;23374270;28628108 False 3 100;0;0 13.3 True ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Psoriasis 2, MIM# 602723 Abnormality of the immune system;HP:0002715 34118208;31286971;30783801 False 3 100;0;0 13.3 True ENSG00000141527 ENSG00000141527 HGNC:16446 CARD9 gene CARD9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 2, autosomal recessive, MIM# 212050;Predisposition to invasive fungal disease, MONDO:0008905 Abnormality of the immune system;HP:0002715 19864672;23335372;24131138;33789983;33558980;33180249 False 3 100;0;0 13.3 True ENSG00000187796 ENSG00000187796 HGNC:16391 CARD9 gene CARD9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 2, autosomal recessive, MIM# 212050;Predisposition to invasive fungal disease, MONDO:0008905 Abnormality of the immune system;HP:0002715 19864672;23335372;24131138;33789983;33558980;33180249 False 3 100;0;0 13.3 True ENSG00000187796 ENSG00000187796 HGNC:16391 CARMIL2 gene CARMIL2 Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Early onset paediatric inflammatory bowel disease Abnormality of the immune system;HP:0002715 33723309 False 3 100;0;0 13.3 True ENSG00000159753 ENSG00000159753 HGNC:27089 CARMIL2 gene CARMIL2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 58, MIM# 618131" Abnormality of the immune system;HP:0002715 29479355;28112205;27896283 False 3 100;0;0 13.3 True ENSG00000159753 ENSG00000159753 HGNC:27089 CASP10 gene CASP10 Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type II MIM#603909 Abnormality of the immune system;HP:0002715 34329798;34384744;20301287 False 3 100;0;0 13.3 True ENSG00000003400 ENSG00000003400 HGNC:1500 CASP10 gene CASP10 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type II MIM#603909 Abnormality of the immune system;HP:0002715 34329798;34384744;20301287 False 3 100;0;0 13.3 True ENSG00000003400 ENSG00000003400 HGNC:1500 CBLB gene CBLB Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 Abnormality of the immune system;HP:0002715 36006710 False 3 100;0;0 13.3 True ENSG00000114423 ENSG00000114423 HGNC:1542 CCBE1 gene CCBE1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia- lymphoedema syndrome MIM# 235510;lymphangiectasia and lymphoedema;facial abnormalities;dysmorphic features;hypoalbuminaemia;intellectual disability;hypoglobulinaemia Abnormality of the immune system;HP:0002715 19935664;19911200;19287381;25925991;27345729;21778431 False 3 100;0;0 13.3 True ENSG00000183287 ENSG00000183287 HGNC:29426 CCR2 gene CCR2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lung disease MIM#219600 Abnormality of the immune system;HP:0002715 38157855 False 3 100;0;0 13.3 True ENSG00000121807 ENSG00000121807 HGNC:1603 CCR5 gene CCR5 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Hepatitis C virus, resistance to} 609532;{HIV infection, susceptibility/resistance to};{West nile virus, susceptibility to}MIM# 610379" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000160791 ENSG00000160791 HGNC:1606 CD19 gene CD19 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3, MIM# 613493 Abnormality of the immune system;HP:0002715 16672701;17882224;17882224;21330302;21159371 False 3 100;0;0 13.3 True ENSG00000177455 ENSG00000177455 HGNC:1633 CD19 gene CD19 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 3, MIM#613493 Abnormality of the immune system;HP:0002715 16672701;17882224;17882224;21330302;21159371 False 3 100;0;0 13.3 True ENSG00000177455 ENSG00000177455 HGNC:1633 CD247 gene CD247 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 25, MIM# 610163;Absent T cells;Normal B cells;Normal NK cells Abnormality of the immune system;HP:0002715 16672702 False 3 100;0;0 13.3 True ENSG00000198821 ENSG00000198821 HGNC:1677 CD27 gene CD27 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 2, MIM# 615122" Abnormality of the immune system;HP:0002715 22801960;22197273 False 3 100;0;0 13.3 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD27 gene CD27 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;CD27-deficiency MIM# 615122;hepatosplenomegaly;reduced CD8+ T-cell function;lymphadenopathy;hepatosplenomegaly;fever;increased susceptibility to EBV infection;aplastic anaemia Abnormality of the immune system;HP:0002715 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 13.3 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD27 gene CD27 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2;CD27-deficiency MIM# 615122;hepatosplenomegaly;reduced CD8+ T-cell function;lymphadenopathy;hepatosplenomegaly;fever;increased susceptibility to EBV infection;aplastic anaemia Abnormality of the immune system;HP:0002715 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 13.3 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD27 gene CD27 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 2, MIM# 615122;Host response to EBV" Abnormality of the immune system;HP:0002715 22801960;22197273 False 3 100;0;0 13.3 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD3D gene CD3D Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19 MIM# 615617 Abnormality of the immune system;HP:0002715 14602880;15546002;21926461;21883749 False 3 100;0;0 13.3 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 18 MIM# 615615 Abnormality of the immune system;HP:0002715 15546002;28597365;8490660 False 3 100;0;0 13.3 True ENSG00000198851 ENSG00000198851 HGNC:1674 CD3G gene CD3G Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD3G gene CD3G Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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. Abnormality of the immune system;HP:0002715 2872416;1635567;17277165;23590417;24910257;18482219;31921117;11160319 False 3 100;0;0 13.3 True ENSG00000160654 ENSG00000160654 HGNC:1675 CD4 gene CD4 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 79, MIM# 619238;Absence of CD4+ T cells;exuberant, relapsing, treatment-refractory warts Abnormality of the immune system;HP:0002715 31781092;33471124 False 3 100;0;0 13.3 True ENSG00000010610 ENSG00000010610 HGNC:1678 CD40 gene CD40 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency with hyper-IgM, type 3, MIM# 606843" Abnormality of the immune system;HP:0002715 11675497;12915844 False 3 100;0;0 13.3 True ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000102245 ENSG00000102245 HGNC:11935 CD40LG gene CD40LG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 Abnormality of the immune system;HP:0002715 7679801;7679206;8094231;9933119;15358621;15997875;7678782;7915248;15367912;7518839;16311023;9933119;12402041;7882172;33475257 False 3 100;0;0 13.3 True ENSG00000102245 ENSG00000102245 HGNC:11935 CD46 gene CD46 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD55 gene CD55 Expert Review Green;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300" Abnormality of the immune system;HP:0002715 28657829;28657861 False 3 100;0;0 13.3 True ENSG00000196352 ENSG00000196352 HGNC:2665 CD59 gene CD59 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000085063 ENSG00000085063 HGNC:1689 CD70 gene CD70 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 3, MIM# 618261;Host response to EBV" Abnormality of the immune system;HP:0002715 28011864;28011863, False 3 100;0;0 13.3 True ENSG00000125726 ENSG00000125726 HGNC:11937 CD70 gene CD70 Expert Review Green;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 3, MIM# 618261" Abnormality of the immune system;HP:0002715 28011864;28011863 False 3 100;0;0 13.3 True ENSG00000125726 ENSG00000125726 HGNC:11937 CD79A gene CD79A Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 3, MIM#613501 Abnormality of the immune system;HP:0002715 29335801;31696364;24481606;10525050;11920841 False 3 100;0;0 13.3 True ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 6, MIM# 612692 Abnormality of the immune system;HP:0002715 17709424;17675462;33733381;24722855 False 3 100;0;0 13.3 True ENSG00000007312 ENSG00000007312 HGNC:1699 CD81 gene CD81 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, MIM# 613496 Abnormality of the immune system;HP:0002715 20237408;35849269 False 3 100;0;0 13.3 True ENSG00000110651 ENSG00000110651 HGNC:1701 CD81 gene CD81 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, MIM# 613496 Abnormality of the immune system;HP:0002715 20237408;35849269 False 3 100;0;0 13.3 True ENSG00000110651 ENSG00000110651 HGNC:1701 CDAN1 gene CDAN1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, 224120 Abnormality of the immune system;HP:0002715 32518175 False 3 100;0;0 13.3 True ENSG00000140326 ENSG00000140326 HGNC:1713 CDC42 gene CDC42 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal-onset cytopaenia with dyshaematopoiesis;autoinflammation;rash;HLH Abnormality of the immune system;HP:0002715 31601675;32303876;32231661 False 3 100;0;0 13.3 True ENSG00000070831 ENSG00000070831 HGNC:1736 CDCA7 gene CDCA7 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910" Abnormality of the immune system;HP:0002715 26216346 False 3 100;0;0 13.3 True ENSG00000144354 ENSG00000144354 HGNC:14628 CEBPE gene CEBPE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency, MIM# 245480 Abnormality of the immune system;HP:0002715 10359588;11313242;31256937;29651288 False 3 100;0;0 13.3 True ENSG00000092067 ENSG00000092067 HGNC:1836 CFD gene CFD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFP gene CFP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Cystic fibrosis, MIM# 219700" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000001626 ENSG00000001626 HGNC:1884 CHD7 gene CHD7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 15300250;26551301;26538304;20186815;17334657 False 3 100;0;0 13.3 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHUK gene CHUK Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, CHUK-related Abnormality of the immune system;HP:0002715 34533979 False 3 50;50;0 13.3 True ENSG00000213341 ENSG00000213341 HGNC:1974 CIB1 gene CIB1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Epidermodysplasia verruciformis 3, MIM# 618267;HPV infections and cancer of the skin" Abnormality of the immune system;HP:0002715 30068544 False 3 100;0;0 13.3 True ENSG00000185043 ENSG00000185043 HGNC:16920 CIB1 gene CIB1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Epidermodysplasia verruciformis 3 618267;HPV infections and cancer of the skin" Abnormality of the immune system;HP:0002715 30068544 False 3 100;0;0 13.3 True ENSG00000185043 ENSG00000185043 HGNC:16920 CIITA gene CIITA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 8402893;9099848;11862382;28676232;24789686;20197681;11466404;15821736;12910265 False 3 100;0;0 13.3 True ENSG00000179583 ENSG00000179583 HGNC:7067 CLCN7 gene CLCN7 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4 MIM#611490 Abnormality of the immune system;HP:0002715 11207362;15231021;17033731;19507210;32048120 False 3 100;0;0 13.3 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLPB gene CLPB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Abnormality of the immune system;HP:0002715 25597510;34140661 False 3 100;0;0 13.3 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPB gene CLPB Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "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" Abnormality of the immune system;HP:0002715 PMID: 34115842, 25597510, 25597511 False 3 100;0;0 13.3 True Other ENSG00000162129 ENSG00000162129 HGNC:30664 COL4A3BP gene COL4A3BP Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder 34 (MIM#616351) Abnormality of the immune system;HP:0002715 PMID: 36976648 False 3 100;0;0 13.3 True Other ENSG00000113163 ENSG00000113163 HGNC:2205 COPA gene COPA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune interstitial lung, joint, and kidney disease, MIM 616414 Abnormality of the immune system;HP:0002715 31455335;30804679 False 3 100;0;0 13.3 True ENSG00000122218 ENSG00000122218 HGNC:2230 CORO1A gene CORO1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8, MIM# 615401 Abnormality of the immune system;HP:0002715 25073507;2352248;18836449 False 3 100;0;0 13.3 True ENSG00000102879 ENSG00000102879 HGNC:2252 CR2 gene CR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 7, MIM# 614699 Abnormality of the immune system;HP:0002715 22035880;26325596;28499783 False 3 100;0;0 13.3 True ENSG00000117322 ENSG00000117322 HGNC:2336 CR2 gene CR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 7, MIM# 614699 Abnormality of the immune system;HP:0002715 22035880;26325596;28499783 False 3 50;50;0 13.3 True ENSG00000117322 ENSG00000117322 HGNC:2336 CSF2RA gene CSF2RA Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770 Abnormality of the immune system;HP:0002715 18955567;18955570;31326401;28233860;28212655;24279752 False 3 100;0;0 13.3 True ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370 Abnormality of the immune system;HP:0002715 7568173;21075760;21205713;25274301;30846703;32048120 False 3 100;0;0 13.3 True ENSG00000100368 ENSG00000100368 HGNC:2436 CSF3R gene CSF3R Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014" Abnormality of the immune system;HP:0002715 24753537;26324699;33511998;32966608 False 3 100;0;0 13.3 True ENSG00000119535 ENSG00000119535 HGNC:2439 CSF3R gene CSF3R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Abnormality of the immune system;HP:0002715 24753537;26324699;33511998;32966608 False 3 100;0;0 13.3 True ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Abnormality of the immune system;HP:0002715 22267198;22387016 False 3 100;0;0 13.3 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTLA4 gene CTLA4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Abnormality of the immune system;HP:0002715 25213377;25329329;30377434 False 3 100;0;0 13.3 True ENSG00000163599 ENSG00000163599 HGNC:2505 CTLA4 gene CTLA4 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000163599 ENSG00000163599 HGNC:2505 CTLA4 gene CTLA4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome, type V, MIM# 616100 Abnormality of the immune system;HP:0002715 25213377;25329329;30377434 False 3 100;0;0 13.3 True ENSG00000163599 ENSG00000163599 HGNC:2505 CTLA4 gene CTLA4 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100;autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493 Abnormality of the immune system;HP:0002715 39060684;38302222 False 3 100;0;0 13.3 True ENSG00000163599 ENSG00000163599 HGNC:2505 CTPS1 gene CTPS1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 24, MIM# 615897;Recurrent/chronic bacterial and viral infections (EBV, VZV);EBV lymphoproliferation;B-cell non-Hodgkin lymphoma Abnormality of the immune system;HP:0002715 24870241 False 3 100;0;0 13.3 True ENSG00000171793 ENSG00000171793 HGNC:2519 CTPS1 gene CTPS1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 24, MIM# 615897;Recurrent/chronic bacterial and viral infections (EBV, VZV);EBV lymphoproliferation;B-cell non-Hodgkin lymphoma" Abnormality of the immune system;HP:0002715 24870241 False 3 100;0;0 13.3 True ENSG00000171793 ENSG00000171793 HGNC:2519 CTSC gene CTSC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Papillon-Lefevre syndrome, MIM# 245000 Abnormality of the immune system;HP:0002715 25244098 False 3 100;0;0 13.3 True ENSG00000109861 ENSG00000109861 HGNC:2528 CXCR2 gene CXCR2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "WHIM syndrome 2 619407" Abnormality of the immune system;HP:0002715 24777453 False 3 50;0;50 13.3 True ENSG00000180871 ENSG00000180871 HGNC:6027 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, MIM# 193670 Abnormality of the immune system;HP:0002715 12692554 False 3 100;0;0 13.3 True ENSG00000121966 ENSG00000121966 HGNC:2561 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome 1, MIM# 193670 Abnormality of the immune system;HP:0002715 12692554;15536153;23009155 False 3 100;0;0 13.3 True ENSG00000121966 ENSG00000121966 HGNC:2561 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome 1, MIM# 193670 Abnormality of the immune system;HP:0002715 12692554;15536153;23009155 False 3 100;0;0 13.3 True ENSG00000121966 ENSG00000121966 HGNC:2561 CXCR4 gene CXCR4 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000121966 ENSG00000121966 HGNC:2561 CXCR4 gene CXCR4 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000121966 ENSG00000121966 HGNC:2561 CYBA gene CYBA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 4, autosomal recessive, MIM# 233690;MONDO:0009308 Abnormality of the immune system;HP:0002715 2770793 False 3 100;0;0 13.3 True ENSG00000051523 ENSG00000051523 HGNC:2577 CYBA gene CYBA Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, X-linked, MIM# 306400 Abnormality of the immune system;HP:0002715 2556453;1710153;9585602 False 3 100;0;0 13.3 True ENSG00000165168 ENSG00000165168 HGNC:2578 CYBB gene CYBB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, X-linked, MIM# 306400 Abnormality of the immune system;HP:0002715 2556453;1710153;9585602 False 3 100;0;0 13.3 True ENSG00000165168 ENSG00000165168 HGNC:2578 CYBB gene CYBB Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000165168 ENSG00000165168 HGNC:2578 DBR1 gene DBR1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441;Viral infections of the brainstem Abnormality of the immune system;HP:0002715 29474921 False 3 100;0;0 13.3 True ENSG00000138231 ENSG00000138231 HGNC:15594 DBR1 gene DBR1 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334 Abnormality of the immune system;HP:0002715 39023559;29474921 False 3 100;0;0 13.3 True ENSG00000138231 ENSG00000138231 HGNC:15594 DCLRE1B gene DCLRE1B Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 8, MIM# 620133 Abnormality of the immune system;HP:0002715 10699141;20479256;35007328 False 3 100;0;0 13.3 True ENSG00000118655 ENSG00000118655 HGNC:17641 DCLRE1C gene DCLRE1C Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type MIM# 602450;Omenn syndrome MIM# 603554 Abnormality of the immune system;HP:0002715 15731174;19953608;15699179;12055248;34220820 False 3 100;0;0 13.3 True ENSG00000152457 ENSG00000152457 HGNC:17642 DCLRE1C gene DCLRE1C Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000152457 ENSG00000152457 HGNC:17642 DCLRE1C gene DCLRE1C Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type MIM# 602450;Absent/reduced T and B cells;decreased Ig levels;Normal NK cell number;increased risk of graft rejection possibly due to activated NK cells;radiation sensitivity;failure to thrive;recurrent respiratory infections;diarrhoea;fever;hypogammmaglobulinaemia Abnormality of the immune system;HP:0002715 19953608;15699179;12055248;34220820 False 3 100;0;0 13.3 True ENSG00000152457 ENSG00000152457 HGNC:17642 DDX41 gene DDX41 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000183258 ENSG00000183258 HGNC:18674 DDX58 gene DDX58 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus Nephritis, MONDO:0005556, DDX58-related Abnormality of the immune system;HP:0002715 PMID: 36261300 False 3 100;0;0 13.3 True ENSG00000107201 ENSG00000107201 HGNC:19102 DEF6 gene DEF6 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 87 and autoimmunity, MIM# 619573;Systemic autoimmunity Abnormality of the immune system;HP:0002715 31308374;32562707 False 3 100;0;0 13.3 True ENSG00000023892 ENSG00000023892 HGNC:2760 DIAPH1 gene DIAPH1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM# 616632;Combined Immune deficiency Abnormality of the immune system;HP:0002715 PMID: 33662367 False 3 100;0;0 13.3 True ENSG00000131504 ENSG00000131504 HGNC:2876 DKC1 gene DKC1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked 305000;Hoyeraal-Hreidarsson Syndrome Abnormality of the immune system;HP:0002715 31269755;26951492;29081935;25940403 False 3 100;0;0 13.3 True ENSG00000130826 ENSG00000130826 HGNC:2890 DKC1 gene DKC1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 Abnormality of the immune system;HP:0002715 9590285;24914498;22664374;10700698;21931702;15842668;12400016;15240872;9663235 False 3 100;0;0 13.3 True ENSG00000130826 ENSG00000130826 HGNC:2890 DKC1 gene DKC1 Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, MIM# 305000 Abnormality of the immune system;HP:0002715 21284747 False 3 67;33;0 13.3 True ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 3, MIM# 617052;Short stature;Exocrine pancreatic insufficiency;Pancytopaenia;Shwachman-Diamond syndrome" Abnormality of the immune system;HP:0002715 29700810;28062395;27346687 False 3 100;0;0 13.3 True ENSG00000168724 ENSG00000168724 HGNC:27030 DNAJC21 gene DNAJC21 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 3, MIM# 617052" Abnormality of the immune system;HP:0002715 29700810;28062395;27346687 False 3 100;0;0 13.3 True ENSG00000168724 ENSG00000168724 HGNC:27030 DNASE1L3 gene DNASE1L3 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Systemic lupus erythematosus 16, MIM# 614420" Abnormality of the immune system;HP:0002715 22019780;30008451 False 3 100;0;0 13.3 True ENSG00000163687 ENSG00000163687 HGNC:2959 DNASE2 gene DNASE2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopenia syndrome, MIM#619858 Abnormality of the immune system;HP:0002715 PMID: 29259162, 31775019 False 3 100;0;0 13.3 True ENSG00000105612 ENSG00000105612 HGNC:2960 DNASE2 gene DNASE2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopaenia syndrome, MIM# 619858 Abnormality of the immune system;HP:0002715 29259162;31775019 False 3 100;0;0 13.3 True ENSG00000105612 ENSG00000105612 HGNC:2960 DNMT3B gene DNMT3B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 20587527;10555141;17359920;9718351;10647011;11102980;12239717 False 3 100;0;0 13.3 True ENSG00000088305 ENSG00000088305 HGNC:2979 DNMT3B gene DNMT3B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK11 gene DOCK11 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 Abnormality of the immune system;HP:0002715 36952639 False 3 100;0;0 13.3 True ENSG00000147251 ENSG00000147251 HGNC:23483 DOCK11 gene DOCK11 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109;Inflammatory bowel disease Abnormality of the immune system;HP:0002715 PMID: 37342957;PMID: 36952639 False 3 100;0;0 13.3 True ENSG00000147251 ENSG00000147251 HGNC:23483 DOCK2 gene DOCK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 26083206;29204803;33928462;30826364;30838481;11518968 False 3 100;0;0 13.3 True ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK8 gene DOCK8 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000107099 ENSG00000107099 HGNC:19191 DOCK8 gene DOCK8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 19776401;20622910;21931011;26659092;19898472;25422492 False 3 100;0;0 13.3 True ENSG00000107099 ENSG00000107099 HGNC:19191 DPP9 gene DPP9 Expert Review Green;Expert Review;Expert Review Green;Expert Review;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal hatipoglu immunodeficiency syndrome MONDO:0957229 Abnormality of the immune system;HP:0002715 36112693 False 3 100;0;0 13.3 True ENSG00000142002 ENSG00000142002 HGNC:18648 DPP9 gene DPP9 Expert Review Green;Expert Review;Expert Review Green;Expert Review;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammatory syndrome MONDO:0019751, DPP9-related;recurrent fevers;repeated infections;herpes susceptibility;cytopaenias Abnormality of the immune system;HP:0002715 PMID: 36112693 False 3 100;0;0 13.3 True ENSG00000142002 ENSG00000142002 HGNC:18648 DSG1 gene DSG1 Expert Review Green;Literature;Other Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0014218" Abnormality of the immune system;HP:0002715 23974871;32126589;29604126 False 3 100;0;0 13.3 True ENSG00000134760 ENSG00000134760 HGNC:3048 DUOX2 gene DUOX2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, DUOX2-related Abnormality of the immune system;HP:0002715 PMID: 35429653;27373512;26301257;28683258 False 3 50;50;0 13.3 True ENSG00000140279 ENSG00000140279 HGNC:13273 DUT gene DUT Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Abnormality of the immune system;HP:0002715 28073829;35611808 False 3 50;50;0 13.3 True ENSG00000128951 ENSG00000128951 HGNC:3078 EFL1 gene EFL1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Shwachman-Diamond syndrome 2, MIM# 617941" Abnormality of the immune system;HP:0002715 28331068;31151987 False 3 100;0;0 13.3 True ENSG00000140598 ENSG00000140598 HGNC:25789 EFL1 gene EFL1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2, MIM# 617941 Abnormality of the immune system;HP:0002715 28331068;31151987 False 3 100;0;0 13.3 True ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, cyclic MIM#162800 Abnormality of the immune system;HP:0002715 33968054;3124897 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 ELANE gene ELANE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700;Neutropaenia, cyclic, MIM# 162800 Abnormality of the immune system;HP:0002715 10581030;11001877;33968054;3124897 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 ELANE gene ELANE Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Abnormality of the immune system;HP:0002715 19036076;3124897;33968054 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 ELF4 gene ELF4 Expert Review Green;Other Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074) Abnormality of the immune system;HP:0002715 34326534, 35266071;35748970 False 3 100;0;0 13.3 True ENSG00000102034 ENSG00000102034 HGNC:3319 EPG5 gene EPG5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, MIM# 242840 Abnormality of the immune system;HP:0002715 23222957;26917586 False 3 100;0;0 13.3 True ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, MIM# 615272 Abnormality of the immune system;HP:0002715 23623386 False 3 100;0;0 13.3 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 2, MIM# 615715" Abnormality of the immune system;HP:0002715 24507776;27185855 False 3 0;0;0 13.3 True ENSG00000182150 ENSG00000182150 HGNC:26922 ERCC6L2 gene ERCC6L2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 2, MIM# 615715" Abnormality of the immune system;HP:0002715 24507776;27185855 False 3 100;0;0 13.3 True ENSG00000182150 ENSG00000182150 HGNC:26922 ERG gene ERG Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myelodysplasia syndrome, MONDO:0018881, ERG-related Abnormality of the immune system;HP:0002715 38991192 False 3 50;50;0 13.3 True ENSG00000157554 ENSG00000157554 HGNC:3446 ETV6 gene ETV6 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Thrombocytopenia 5, MIM# 616216" Abnormality of the immune system;HP:0002715 25581430;25807284 False 3 100;0;0 13.3 True ENSG00000139083 ENSG00000139083 HGNC:3495 EXTL3 gene EXTL3 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425" Abnormality of the immune system;HP:0002715 28132690;28148688 False 3 100;0;0 13.3 True ENSG00000012232 ENSG00000012232 HGNC:3518 F12 gene F12 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angioedema, hereditary, 3, MIM# 610618 Abnormality of the immune system;HP:0002715 26193639;16638441;17381464;21849258;17186468;19178938;30463937;23994767 False 3 67;33;0 13.3 True Other ENSG00000131187 ENSG00000131187 HGNC:3530 FADD gene FADD Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal FADD-related immunodeficiency MONDO:0013408 Abnormality of the immune system;HP:0002715 21109225;25794656;32350755;32971525 False 3 100;0;0 13.3 True ENSG00000168040 ENSG00000168040 HGNC:3573 FADD gene FADD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal FADD-related immunodeficiency MONDO:0013408 Abnormality of the immune system;HP:0002715 21109225;25794656;32350755;32971525 False 3 100;0;0 13.3 True ENSG00000168040 ENSG00000168040 HGNC:3573 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 Abnormality of the immune system;HP:0002715 10094191 False 3 100;0;0 13.3 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514 Abnormality of the immune system;HP:0002715 15502827 False 3 100;0;0 13.3 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645;MONDO:0009213 Abnormality of the immune system;HP:0002715 31044565;30792206;28717661 False 3 100;0;0 13.3 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 Abnormality of the immune system;HP:0002715 17436244 False 3 100;0;0 13.3 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 Abnormality of the immune system;HP:0002715 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 13.3 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 Abnormality of the immune system;HP:0002715 10615118;31288759 False 3 100;0;0 13.3 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 Abnormality of the immune system;HP:0002715 9806548;12552564 False 3 100;0;0 13.3 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 Abnormality of the immune system;HP:0002715 17452773 False 3 100;0;0 13.3 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 Abnormality of the immune system;HP:0002715 19405097;25754594;33394227;33224012 False 3 100;0;0 13.3 True ENSG00000115392 ENSG00000115392 HGNC:20748 FAS gene FAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000026103 ENSG00000026103 HGNC:11920 FAS gene FAS Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type IA MIM#601859" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal autoimmune lymphoproliferative syndrome MONDO:0017979 Abnormality of the immune system;HP:0002715 16627752;17605793;19794494;8787672;22857792;33356695;26334989;25451160 False 3 100;0;0 13.3 True ENSG00000117560 ENSG00000117560 HGNC:11936 FASLG gene FASLG Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type IB MIM#601859" Abnormality of the immune system;HP:0002715 16627752;17605793;19794494;8787672;22857792;33356695;26334989;25451160 False 3 100;0;0 13.3 False ENSG00000117560 ENSG00000117560 HGNC:11936 FAT4 gene FAT4 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Hennekam lymphangiectasia-lymphedema syndrome 2, MIM# 616006;Low/variable T and B cells;Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000196159 ENSG00000196159 HGNC:23109 FCHO1 gene FCHO1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 32098969;30822429 False 3 100;0;0 13.3 True ENSG00000130475 ENSG00000130475 HGNC:29002 FERMT1 gene FERMT1 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Kindler syndrome MONDO:0008260 Abnormality of the immune system;HP:0002715 34512655 False 3 100;0;0 13.3 True ENSG00000101311 ENSG00000101311 HGNC:15889 FERMT3 gene FERMT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III, MIM# 612840 Abnormality of the immune system;HP:0002715 19234460;19064721 False 3 100;0;0 13.3 True ENSG00000149781 ENSG00000149781 HGNC:23151 FNIP1 gene FNIP1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Abnormality of the immune system;HP:0002715 32181500;32905580 False 3 100;0;0 13.3 True ENSG00000217128 ENSG00000217128 HGNC:29418 FNIP1 gene FNIP1 Expert Review Green;Literature;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic Cardiomyopathy;Primary Immunodeficiency;Agammaglobulinemia;Neutropenia;Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Abnormality of the immune system;HP:0002715 PMID: 37522988;PMID: 32181500;PMID: 32905580 (2020) False 3 100;0;0 13.3 True ENSG00000217128 ENSG00000217128 HGNC:29418 FOXN1 gene FOXN1 Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 31447097;18339010;10206641;32048120 False 3 100;0;0 13.3 True ENSG00000109101 ENSG00000109101 HGNC:12765 FOXN1 gene FOXN1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 31447097;18339010;10206641 False 3 100;0;0 13.3 True ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000049768 ENSG00000049768 HGNC:6106 FOXP3 gene FOXP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000049768 ENSG00000049768 HGNC:6106 G6PC3 gene G6PC3 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PC3 gene G6PC3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541;MONDO:0012930;Dursun syndrome, MIM# 612541 Abnormality of the immune system;HP:0002715 19118303;20799326;25492228;17318259;20616219 False 3 100;0;0 13.3 True ENSG00000141349 ENSG00000141349 HGNC:24861 G6PC3 gene G6PC3 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541;MONDO:0012930;Dursun syndrome, MIM# 612541 Abnormality of the immune system;HP:0002715 19118303;20799326;25492228;17318259;20616219 False 3 100;0;0 13.3 True ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Hemolytic anemia, G6PD deficient (favism), MIM# 300908" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000160211 ENSG00000160211 HGNC:4057 GALE gene GALE Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 12, syndromic, MIM#620776 Abnormality of the immune system;HP:0002715 30247636;34159722;36395340 False 3 100;0;0 13.3 True ENSG00000117308 ENSG00000117308 HGNC:4116 GATA1 gene GATA1 Expert Review Green;Expert list;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 21, MIM# 614172;GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982;Emberger syndrome, MIM# 614038;Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Abnormality of the immune system;HP:0002715 21670465;21242295;21892158 False 3 100;0;0 13.3 True ENSG00000179348 ENSG00000179348 HGNC:4171 GATA2 gene GATA2 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982) Abnormality of the immune system;HP:0002715 26395816;27169477;29493060;30564229;31350183;33410496;33684095;34040617 False 3 100;0;0 13.3 True ENSG00000179348 ENSG00000179348 HGNC:4171 GATA2 gene GATA2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emberger syndrome, MIM# 614038 Abnormality of the immune system;HP:0002715 26710799 False 3 100;0;0 13.3 True ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Abnormality of the immune system;HP:0002715 12778173;20560965;11810106;22684987 False 3 100;0;0 13.3 True ENSG00000162676 ENSG00000162676 HGNC:4237 GFI1 gene GFI1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Abnormality of the immune system;HP:0002715 12778173;20560965;11810106;22684987 False 3 100;0;0 13.3 True ENSG00000162676 ENSG00000162676 HGNC:4237 GIMAP5 gene GIMAP5 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal portal hypertension, noncirrhotic, 2 MONDO:0030397 Abnormality of the immune system;HP:0002715 33956074 False 3 100;0;0 13.3 True ENSG00000196329 ENSG00000196329 HGNC:18005 GIMAP5 gene GIMAP5 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Portal hypertension, noncirrhotic, 2, MIM# 619463 Abnormality of the immune system;HP:0002715 33956074 False 3 100;0;0 13.3 True ENSG00000196329 ENSG00000196329 HGNC:18005 GIMAP6 gene GIMAP6 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome MONDO:0019751, GIMAP6-related Abnormality of the immune system;HP:0002715 PMID: 35551368;33328581 False 3 100;0;0 13.3 True ENSG00000133561 ENSG00000133561 HGNC:21918 GINS1 gene GINS1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 55, MIM#617827 Abnormality of the immune system;HP:0002715 28414293 False 3 100;0;0 13.3 True ENSG00000101003 ENSG00000101003 HGNC:28980 GLRX5 gene GLRX5 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Abnormality of the immune system;HP:0002715 17485548;25342667;30660387 False 3 100;0;0 13.3 True ENSG00000182512 ENSG00000182512 HGNC:20134 GUCY2C gene GUCY2C Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000070019 ENSG00000070019 HGNC:4688 HAVCR2 gene HAVCR2 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398 Abnormality of the immune system;HP:0002715 30792187;30374066 False 3 100;0;0 13.3 True ENSG00000135077 ENSG00000135077 HGNC:18437 HAVCR2 gene HAVCR2 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398" Abnormality of the immune system;HP:0002715 30374066;30792187 False 3 100;0;0 13.3 True ENSG00000135077 ENSG00000135077 HGNC:18437 HAX1 gene HAX1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738;Kostmann syndrome MONDO:0012548 Abnormality of the immune system;HP:0002715 17187068;18611981;19036076 False 3 100;0;0 13.3 True ENSG00000143575 ENSG00000143575 HGNC:16915 HAX1 gene HAX1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738;Kostmann syndrome MONDO:0012548 Abnormality of the immune system;HP:0002715 17187068;18611981;19036076 False 3 100;0;0 13.3 True ENSG00000143575 ENSG00000143575 HGNC:16915 HEATR3 gene HEATR3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Diamond-Blackfan anaemia 21, MIM# 620072 Abnormality of the immune system;HP:0002715 PMID: 35213692 False 3 100;0;0 13.3 True ENSG00000155393 ENSG00000155393 HGNC:26087 HELLS gene HELLS Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 Abnormality of the immune system;HP:0002715 26216346 False 3 100;0;0 13.3 True ENSG00000119969 ENSG00000119969 HGNC:4861 HMOX1 gene HMOX1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Heme oxygenase-1 deficiency, MIM# 614034;Asplenia" Abnormality of the immune system;HP:0002715 21088618;9884342;20844238;33066778 False 3 50;50;0 13.3 True ENSG00000100292 ENSG00000100292 HGNC:5013 HPS1 gene HPS1 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000166189 ENSG00000166189 HGNC:18817 HTRA2 gene HTRA2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII, MIM# 617248" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000115317 ENSG00000115317 HGNC:14348 HYOU1 gene HYOU1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 59 and hypoglycemia, MIM# 233600" Abnormality of the immune system;HP:0002715 27913302;35822684 False 3 33;33;33 13.3 True ENSG00000149428 ENSG00000149428 HGNC:16931 ICOS gene ICOS Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000163600 ENSG00000163600 HGNC:5351 ICOS gene ICOS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 12577056;15507387;19380800;28861081;31858365;11343122;16982935 False 3 100;0;0 13.3 True ENSG00000163600 ENSG00000163600 HGNC:5351 ICOS gene ICOS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 12577056;15507387;19380800;28861081;31858365;11343122;16982935 False 3 100;0;0 13.3 True ENSG00000163600 ENSG00000163600 HGNC:5351 IFIH1 gene IFIH1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aicardi-Goutieres syndrome 7, MIM# 615846" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFIH1 gene IFIH1 Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000115267 ENSG00000115267 HGNC:18873 IFIH1 gene IFIH1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Inflammatory Bowel Disease Abnormality of the immune system;HP:0002715 34185153 False 3 100;0;0 13.3 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFIH1 gene IFIH1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Severe viral respiratory infections;Rhinovirus and other RNA viruses Abnormality of the immune system;HP:0002715 28716935;29018476 False 3 100;0;0 13.3 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFIH1 gene IFIH1 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 95 MIM#619773 Abnormality of the immune system;HP:0002715 28606988;29018476;28716935;34185153 False 3 100;0;0 13.3 True ENSG00000115267 ENSG00000115267 HGNC:18873 IFNAR1 gene IFNAR1 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 106, susceptibility to viral infections MONDO:0030970 Abnormality of the immune system;HP:0002715 35442418;31270247 False 3 67;33;0 13.3 False ENSG00000142166 ENSG00000142166 HGNC:5432 IFNAR1 gene IFNAR1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 106, susceptibility to viral infections, MIM# 619935;Severe disease caused by Yellow Fever vaccine and Measles vaccine" Abnormality of the immune system;HP:0002715 31270247 False 3 50;50;0 13.3 True ENSG00000142166 ENSG00000142166 HGNC:5432 IFNAR2 gene IFNAR2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 45, MIM# 616669" Abnormality of the immune system;HP:0002715 26424569;35442417 False 3 50;0;50 13.3 True ENSG00000159110 ENSG00000159110 HGNC:5433 IFNAR2 gene IFNAR2 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 45 MONDO:0014727 Abnormality of the immune system;HP:0002715 35442417;26424569 False 3 50;0;50 13.3 False ENSG00000159110 ENSG00000159110 HGNC:5433 IFNGR1 gene IFNGR1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950;Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Abnormality of the immune system;HP:0002715 7815885;8960475;9389728;10811850;10192386;12244188;15589309 False 3 100;0;0 13.3 True ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, MIM# 614889 Abnormality of the immune system;HP:0002715 15924140;18625743;31222290 False 3 100;0;0 13.3 True ENSG00000159128 ENSG00000159128 HGNC:5440 IGHM gene IGHM Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinemia 1, MIM# 601495" Abnormality of the immune system;HP:0002715 12370281;8890099 False 3 100;0;0 13.3 True ENSG00000211899 ENSG00000211899 HGNC:5541 IGLL1 gene IGLL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 2, MIM# 613500 Abnormality of the immune system;HP:0002715 9419212;25502423;27576013 False 3 100;0;0 13.3 True ENSG00000128322 ENSG00000128322 HGNC:5870 IKBKB gene IKBKB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 15A, autosomal dominant, MIM# 618204;Immunodeficiency 15B, autosomal recessive, MIM# 615592 Abnormality of the immune system;HP:0002715 30337470;25216719;24369075 False 3 100;0;0 13.3 True Other ENSG00000104365 ENSG00000104365 HGNC:5960 IKBKG gene IKBKG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia and immunodeficiency 1 MIM# 300291;Immunodeficiency 33 MIM# 300636 Abnormality of the immune system;HP:0002715 11242109;11047757;29855039;15833888;28993958;15577852 False 3 100;0;0 13.3 True ENSG00000073009 ENSG00000269335 HGNC:5961 IKBKG gene IKBKG Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Autoinflammatory disease, systemic, X-linked, MIM# 301081" Abnormality of the immune system;HP:0002715 31874111;35289316 False 3 100;0;0 13.3 True ENSG00000073009 ENSG00000269335 HGNC:5961 IKBKG gene IKBKG Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 21548011;26981933;29889099;31057532;7923373;11805317 False 3 100;0;0 13.3 True ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF1 gene IKZF1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "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" Abnormality of the immune system;HP:0002715 21548011;26981933 False 3 100;0;0 13.3 True ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF1 gene IKZF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 21548011;26981933;29889099;31057532;7923373;11805317 False 3 100;0;0 13.3 True ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF1 gene IKZF1 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation Abnormality of the immune system;HP:0002715 PMID: 35333544 False 3 100;0;0 13.3 True Other ENSG00000185811 ENSG00000185811 HGNC:13176 IKZF2 gene IKZF2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal HELIOS deficiency MONDO:0800139 Abnormality of the immune system;HP:0002715 34826260;34826259;34920454 False 3 100;0;0 13.3 True ENSG00000030419 ENSG00000030419 HGNC:13177 IKZF2 gene IKZF2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency, MONDO:0021094, IKZF2-related;Immune dysregulation Abnormality of the immune system;HP:0002715 34920454;34826259 False 3 100;0;0 13.3 True ENSG00000030419 ENSG00000030419 HGNC:13177 IKZF3 gene IKZF3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency 84, MIM# 619437" Abnormality of the immune system;HP:0002715 34155405;34694366 False 3 0;100;0 13.3 True ENSG00000161405 ENSG00000161405 HGNC:13178 IL10 gene IL10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL10 gene IL10 Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Diseases of Immune Dysregulation;Early-onset inflammatory bowel disease Abnormality of the immune system;HP:0002715 22236434;20951137;19890111 False 3 100;0;0 13.3 True ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RA gene IL10RA Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 Abnormality of the immune system;HP:0002715 19890111;21519361;22476154 False 3 100;0;0 13.3 True ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL10RB gene IL10RB Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 Abnormality of the immune system;HP:0002715 19890111;21519361;35187668;31096038 False 3 100;0;0 13.3 True ENSG00000243646 ENSG00000243646 HGNC:5965 IL12B gene IL12B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 29, mycobacteriosis, MIM# 614890 Abnormality of the immune system;HP:0002715 9854038;11753820;34389021 False 3 100;0;0 13.3 True ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 30, MIM# 614891 Abnormality of the immune system;HP:0002715 9603733;9603732;12591909;15736007;23864330 False 3 100;0;0 13.3 True ENSG00000096996 ENSG00000096996 HGNC:5971 IL17RA gene IL17RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 51, MIM# 613953;MONDO:0013500 Abnormality of the immune system;HP:0002715 21350122;27930337 False 3 100;0;0 13.3 True ENSG00000177663 ENSG00000177663 HGNC:5985 IL17RA gene IL17RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 51, MIM# 613953;MONDO:0013500 Abnormality of the immune system;HP:0002715 21350122;27930337 False 3 100;0;0 13.3 True ENSG00000177663 ENSG00000177663 HGNC:5985 IL17RC gene IL17RC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 9, MIM# 616445;MONDO:0014642 Abnormality of the immune system;HP:0002715 25918342 False 3 100;0;0 13.3 True ENSG00000163702 ENSG00000163702 HGNC:18358 IL17RC gene IL17RC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 9, MIM# 616445;MONDO:0014642 Abnormality of the immune system;HP:0002715 25918342 False 3 100;0;0 13.3 True ENSG00000163702 ENSG00000163702 HGNC:18358 IL1RN gene IL1RN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, MIM# 612852 Abnormality of the immune system;HP:0002715 19494218;32819369 False 3 100;0;0 13.3 True ENSG00000136689 ENSG00000136689 HGNC:6000 IL21R gene IL21R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56, MIM# 615207 Abnormality of the immune system;HP:0002715 33929673 False 3 100;0;0 13.3 True ENSG00000103522 ENSG00000103522 HGNC:6006 IL23R gene IL23R Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency disease, MONDO:0021094;Susceptibility to mycobacteria and Salmonella Abnormality of the immune system;HP:0002715 30578351;35829840 False 3 50;0;50 13.3 True ENSG00000162594 ENSG00000162594 HGNC:19100 IL2RA gene IL2RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RA gene IL2RA Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495 Abnormality of the immune system;HP:0002715 31040184, 31040185 False 3 50;50;0 13.3 True ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RB gene IL2RB Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495;Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections" Abnormality of the immune system;HP:0002715 31040184;31040185 False 3 100;0;0 13.3 True ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RG gene IL2RG Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000147168 ENSG00000147168 HGNC:6010 IL2RG gene IL2RG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 Abnormality of the immune system;HP:0002715 20301584;8462096;8401490;7883965;9399950 False 3 100;0;0 13.3 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL2RG gene IL2RG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 Abnormality of the immune system;HP:0002715 20301584;8462096;8401490;7883965;9399950 False 3 100;0;0 13.3 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL36RN gene IL36RN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Psoriasis 14, pustular, MIM# 614204;Autoinflammatory syndrome, MONDO:0019751, IL36RN-related Abnormality of the immune system;HP:0002715 21848462;21839423;22903787 False 3 100;0;0 13.3 True ENSG00000136695 ENSG00000136695 HGNC:15561 IL6ST gene IL6ST Literature;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 28747427;30309848;12370259;16041381;31914175;32207811 False 3 100;0;0 13.3 True ENSG00000134352 ENSG00000134352 HGNC:6021 IL7 gene IL7 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, IL7-related Abnormality of the immune system;HP:0002715 PMID: 39352394 False 3 100;0;0 13.3 True ENSG00000104432 ENSG00000104432 HGNC:6023 IL7R gene IL7R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency 104 MIM#608971 Abnormality of the immune system;HP:0002715 9843216;19890784;26123418;11023514;7964471 False 3 100;0;0 13.3 True ENSG00000168685 ENSG00000168685 HGNC:6024 IL7R gene IL7R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency 104 MIM#608971 Abnormality of the immune system;HP:0002715 9843216;19890784;26123418;11023514;7964471 False 3 100;0;0 13.3 True ENSG00000168685 ENSG00000168685 HGNC:6024 IPO8 gene IPO8 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472;Loeys-Dietz syndrome-like;cardiovascular, neurologic, skeletal and immunologic abnormalities Abnormality of the immune system;HP:0002715 34010604 False 3 100;0;0 13.3 True ENSG00000133704 ENSG00000133704 HGNC:9853 IRAK4 gene IRAK4 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, IRAK4-related Abnormality of the immune system;HP:0002715 PMID: 37744344 False 3 100;0;0 13.3 True ENSG00000198001 ENSG00000198001 HGNC:17967 IRAK4 gene IRAK4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 67, MIM# 607676 Abnormality of the immune system;HP:0002715 26825884;17878374;17544092;16950813 False 3 100;0;0 13.3 True ENSG00000198001 ENSG00000198001 HGNC:17967 IRF1 gene IRF1 Expert Review Green;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668 Abnormality of the immune system;HP:0002715 36736301 False 3 100;0;0 13.3 True ENSG00000125347 ENSG00000125347 HGNC:6116 IRF2BP2 gene IRF2BP2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 14 MIM#617765 Abnormality of the immune system;HP:0002715 27016798;32048120;36193988;33864888 False 3 50;50;0 13.3 True ENSG00000168264 ENSG00000168264 HGNC:21729 IRF2BP2 gene IRF2BP2 Expert Review Green;Expert list;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, common variable, 14, MIM# 617765" Abnormality of the immune system;HP:0002715 27016798;32048120;36193988;33864888 False 3 67;33;0 13.3 True ENSG00000168264 ENSG00000168264 HGNC:21729 IRF4 gene IRF4 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted combined immunodeficiency MONDO:0015131 Abnormality of the immune system;HP:0002715 36662884, 36917008, 29537367, 29408330 False 3 100;0;0 13.3 False ENSG00000137265 ENSG00000137265 HGNC:6119 IRF4 gene IRF4 Expert Review Green;Other Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, IRF4-related Abnormality of the immune system;HP:0002715 29408330;36662884 False 3 50;50;0 13.3 True ENSG00000137265 ENSG00000137265 HGNC:6119 IRF7 gene IRF7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 39, MIM# 616345 Abnormality of the immune system;HP:0002715 25814066;15800576 False 3 100;0;0 13.3 True ENSG00000185507 ENSG00000185507 HGNC:6122 IRF7 gene IRF7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 39, MIM# 616345 Abnormality of the immune system;HP:0002715 25814066;15800576;35986347;35670811 False 3 100;0;0 13.3 True ENSG00000185507 ENSG00000185507 HGNC:6122 IRF8 gene IRF8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893;Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Abnormality of the immune system;HP:0002715 21524210;27893462;29128673;28162909;25122610 False 3 100;0;0 13.3 True ENSG00000140968 ENSG00000140968 HGNC:5358 ISG15 gene ISG15 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 38, MIM# 616126 Abnormality of the immune system;HP:0002715 25307056;22859821;35258551;32944031 False 3 100;0;0 13.3 True ENSG00000187608 ENSG00000187608 HGNC:4053 ITCH gene ITCH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGB2 gene ITGB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, MIM# 116920 Abnormality of the immune system;HP:0002715 1968911;1694220;33957747;32279896;31374327 False 3 100;0;0 13.3 True ENSG00000160255 ENSG00000160255 HGNC:6155 ITGB2 gene ITGB2 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000160255 ENSG00000160255 HGNC:6155 ITK gene ITK Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1, MIM# 613011;EBV associated B call lymphoproliferation, lymphoma" Abnormality of the immune system;HP:0002715 19425169;22289921;21109689 False 3 100;0;0 13.3 True ENSG00000113263 ENSG00000113263 HGNC:6171 ITK gene ITK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 19425169;22289921;25061172;26056787;9311799;10213685 False 3 100;0;0 13.3 True ENSG00000113263 ENSG00000113263 HGNC:6171 ITK gene ITK Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1, MIM# 613011;EBV- associated B cell lymphoproliferation, lymphoma" Abnormality of the immune system;HP:0002715 19425169;22289921;21109689 False 3 100;0;0 13.3 True ENSG00000113263 ENSG00000113263 HGNC:6171 ITK gene ITK Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1 MIM#613011" Abnormality of the immune system;HP:0002715 19425169;22289921;25061172;26056787;9311799;10213685 False 3 100;0;0 13.3 True ENSG00000113263 ENSG00000113263 HGNC:6171 ITPR3 gene ITPR3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, MONDO:0015131, ITPR3-related Abnormality of the immune system;HP:0002715 PMID: 36302985 False 3 100;0;0 13.3 True ENSG00000096433 ENSG00000096433 HGNC:6182 IVNS1ABP gene IVNS1ABP Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 70, MIM#618969 Abnormality of the immune system;HP:0002715 32499645 False 3 100;0;0 13.3 True ENSG00000116679 ENSG00000116679 HGNC:16951 JAGN1 gene JAGN1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022 Abnormality of the immune system;HP:0002715 25129144 False 3 100;0;0 13.3 True ENSG00000171135 ENSG00000171135 HGNC:26926 JAGN1 gene JAGN1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022" Abnormality of the immune system;HP:0002715 25129144 False 3 100;0;0 13.3 True ENSG00000171135 ENSG00000171135 HGNC:26926 JAK1 gene JAK1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Eosinophilia;Eosinophilic enteritis;Thyroid disease;Poor growth;Viral infections;Viral infections;Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Abnormality of the immune system;HP:0002715 28111307 False 3 100;0;0 13.3 True Other ENSG00000162434 ENSG00000162434 HGNC:6190 JAK1 gene JAK1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Abnormality of the immune system;HP:0002715 38563820;28111307 False 3 100;0;0 13.3 True ENSG00000162434 ENSG00000162434 HGNC:6190 JAK3 gene JAK3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Abnormality of the immune system;HP:0002715 14615376;11668610 False 3 100;0;0 13.3 True ENSG00000105639 ENSG00000105639 HGNC:6193 KARS gene KARS Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893 Abnormality of the immune system;HP:0002715 37770806 False 3 100;0;0 13.3 True ENSG00000065427 ENSG00000065427 HGNC:6215 KDM6A gene KDM6A Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2 MIM#300867 Abnormality of the immune system;HP:0002715 31363182;32048120 False 3 100;0;0 13.3 True ENSG00000147050 ENSG00000147050 HGNC:12637 KLF1 gene KLF1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673;MONDO:0013355;Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Abnormality of the immune system;HP:0002715 21055716;33339573;32815883;32221653;32032242;31818881;24443441;25724378;28361594;34554218 False 3 100;0;0 13.3 True ENSG00000105610 ENSG00000105610 HGNC:6345 KMT2D gene KMT2D Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1 MIM#147920 Abnormality of the immune system;HP:0002715 31363182;32048120 False 3 100;0;0 13.3 True ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "RAS-associated autoimmune leukoproliferative disorder MIM#614470" Abnormality of the immune system;HP:0002715 27577878;39060684;21079152 False 3 100;0;0 13.3 True ENSG00000133703 ENSG00000133703 HGNC:6407 LACC1 gene LACC1 Expert Review Green;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal juvenile arthritis due to defect in LACC1 MONDO:0032920 Abnormality of the immune system;HP:0002715 25220867;27881174;30872671;33718577 False 3 100;0;0 13.3 True ENSG00000179630 ENSG00000179630 HGNC:26789 LAT gene LAT Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 52, MIM# 617514" Abnormality of the immune system;HP:0002715 27522155;27242165;10204488 False 3 100;0;0 13.3 True ENSG00000213658 ENSG00000213658 HGNC:18874 LCK gene LCK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 22985903;1579166;11021796;27087313;38100037 False 3 50;50;0 13.3 True ENSG00000182866 ENSG00000182866 HGNC:6524 LCP2 gene LCP2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 81, MIM# 619374 Abnormality of the immune system;HP:0002715 PMID: 36474126;PMID: 33231617 False 3 100;0;0 13.3 True ENSG00000043462 ENSG00000043462 HGNC:6529 LIG1 gene LIG1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Lymphopaenia;Hypogammaglobulinaemia;Recurrent bacterial and viral infections;Growth retardation;Sun sensitivity, radiation sensitivity;Macrocytosis Abnormality of the immune system;HP:0002715 30395541 False 3 100;0;0 13.3 True ENSG00000105486 ENSG00000105486 HGNC:6598 LIG1 gene LIG1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 96, MIM# 619774 Abnormality of the immune system;HP:0002715 PMID: 33025376;PMID: 36341401 False 3 100;0;0 13.3 True ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 27717373;10911993 False 3 100;0;0 13.3 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593;DNA ligase IV deficiency, MONDO:0011686 Abnormality of the immune system;HP:0002715 11779494;16088910;15333585;20133615 False 3 100;0;0 13.3 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIG4 gene LIG4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 27717373;10911993 False 3 100;0;0 13.3 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593 Abnormality of the immune system;HP:0002715 16088910;10911993;15333585;9809069;12023982;11040211 False 3 100;0;0 13.3 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIG4 gene LIG4 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "LIG4 syndrome, MIM# 606593;Immune dysregulation" Abnormality of the immune system;HP:0002715 PMID: 37004747 False 3 100;0;0 13.3 True Other ENSG00000174405 ENSG00000174405 HGNC:6601 LPIN2 gene LPIN2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, MIM# 609628;Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Abnormality of the immune system;HP:0002715 15994876;33993107;33670882;33314777;31727123 False 3 100;0;0 13.3 True ENSG00000101577 ENSG00000101577 HGNC:14450 LRBA gene LRBA Literature;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700;Recurrent infections;Inflammatory bowel disease;Autoimmunity;EBV infections" Abnormality of the immune system;HP:0002715 22721650;25468195;26206937;22608502 False 3 100;0;0 13.3 True ENSG00000198589 ENSG00000198589 HGNC:1742 LRBA gene LRBA Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 8, with autoimmunity MIM#614700" Abnormality of the immune system;HP:0002715 38302222;25931386 False 3 100;0;0 13.3 True ENSG00000198589 ENSG00000198589 HGNC:1742 LRBA gene LRBA Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRBA gene LRBA Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM#614700 Abnormality of the immune system;HP:0002715 22608502;32506362 False 3 100;0;0 13.3 True ENSG00000198589 ENSG00000198589 HGNC:1742 LRBA gene LRBA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 22608502;22721650;25468195;26206937;33155142 False 3 100;0;0 13.3 True ENSG00000198589 ENSG00000198589 HGNC:1742 LYN gene LYN Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disease, systemic, with vasculitis, MIM# 620376 Abnormality of the immune system;HP:0002715 36932076;36122175 False 3 100;0;0 13.3 True ENSG00000254087 ENSG00000254087 HGNC:6735 LYN gene LYN Expert Review Green;Expert list;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory disease, systemic, with vasculitis MONDO:0957271 Abnormality of the immune system;HP:0002715 36932076;36122175 False 3 100;0;0 13.3 False Other ENSG00000254087 ENSG00000254087 HGNC:6735 LYST gene LYST Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAGT1 gene MAGT1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853" Abnormality of the immune system;HP:0002715 21796205;24550228;25504528 False 3 100;0;0 13.3 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAGT1 gene MAGT1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853" Abnormality of the immune system;HP:0002715 39060684;25956530;34447369 False 3 100;0;0 13.3 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAGT1 gene MAGT1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM# 300853" Abnormality of the immune system;HP:0002715 31036665;25504528;21796205;24550228;25956530 False 3 100;0;0 13.3 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAGT1 gene MAGT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 Abnormality of the immune system;HP:0002715 24550228;31036665;32451662 False 3 100;0;0 13.3 True ENSG00000102158 ENSG00000102158 HGNC:28880 MALT1 gene MALT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 23727036;24332264;14576442;31037583 False 3 100;0;0 13.3 True ENSG00000172175 ENSG00000172175 HGNC:6819 MAP3K14 gene MAP3K14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 25406581;29230214;11251123;10319865;11238593;12352969 False 3 0;100;0 13.3 True ENSG00000006062 ENSG00000006062 HGNC:6853 MAP3K14 gene MAP3K14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Immunodeficiency 112, MIM# 620449 Abnormality of the immune system;HP:0002715 29230214;11251123;25406581 False 3 100;0;0 13.3 True ENSG00000006062 ENSG00000006062 HGNC:6853 MBD4 gene MBD4 Expert Review Green;Expert Review;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Tumor predisposition syndrome 2 - MIM#619975;Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Abnormality of the immune system;HP:0002715 PMID: 30049810;PMID:35460607;PMID:35381620 False 3 100;0;0 13.3 True ENSG00000129071 ENSG00000129071 HGNC:6919 MCTS1 gene MCTS1 Expert Review Green;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related Abnormality of the immune system;HP:0002715 37875108 False 3 100;0;0 13.3 True ENSG00000232119 ENSG00000232119 HGNC:23357 MECOM gene MECOM Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738;Bone marrow failure without radioulnar synostosis (RUS) Abnormality of the immune system;HP:0002715 26581901;29519864;29146883 False 3 100;0;0 13.3 True Other ENSG00000085276 ENSG00000085276 HGNC:3498 MEFV gene MEFV Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, MIM# 134610;Familial Mediterranean fever, AR, MIM# 249100;Neutrophilic dermatosis, MIM#608068 Abnormality of the immune system;HP:0002715 27030597;28835462 False 3 100;0;0 13.3 True ENSG00000103313 ENSG00000103313 HGNC:6998 MEFV gene MEFV Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000103313 ENSG00000103313 HGNC:6998 MOGS gene MOGS Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIb, MIM# 606056;Severe hypogammaglobulinaemia;Bacterial and viral infections;Severe neurologic disease" Abnormality of the immune system;HP:0002715 10788335;24716661;29235540 False 3 100;0;0 13.3 True ENSG00000115275 ENSG00000115275 HGNC:24862 MOGS gene MOGS Expert Review Green;Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 Abnormality of the immune system;HP:0002715 31925597;30587846;33058492 False 3 100;0;0 13.3 True ENSG00000115275 ENSG00000115275 HGNC:24862 MOGS gene MOGS Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb MIM#606056;Mannosyl-oligosaccharide glucosidase deficiency (MOGS) Abnormality of the immune system;HP:0002715 32048120;10788335;24716661;29235540 False 3 100;0;0 13.3 True ENSG00000115275 ENSG00000115275 HGNC:24862 MPEG1 gene MPEG1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 77, MIM# 619223 Abnormality of the immune system;HP:0002715 33224153;33692780;28422754 False 3 100;0;0 13.3 True ENSG00000197629 ENSG00000197629 HGNC:29619 MPIG6B gene MPIG6B Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Abnormality of the immune system;HP:0002715 PMID: 31276734, 29898956, 27743390 False 3 100;0;0 13.3 True ENSG00000204420 ENSG00000204420 HGNC:13937 MPL gene MPL Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myelofibrosis with myeloid metaplasia, somatic, MIM#254450;Thrombocythemia 2, MIM#601977, AD, SMu;Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR Abnormality of the immune system;HP:0002715 28955303;26423830 False 3 100;0;0 13.3 True ENSG00000117400 ENSG00000117400 HGNC:7217 MSN gene MSN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 50, MIM# 300988" Abnormality of the immune system;HP:0002715 27405666 False 3 100;0;0 13.3 True ENSG00000147065 ENSG00000147065 HGNC:7373 MSN gene MSN Expert Review Green;Expert list;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 50, MIM# 300988 Abnormality of the immune system;HP:0002715 27405666 False 3 100;0;0 13.3 True ENSG00000147065 ENSG00000147065 HGNC:7373 MSN gene MSN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 50, MIM# 300988" Abnormality of the immune system;HP:0002715 27405666 False 3 100;0;0 13.3 True ENSG00000147065 ENSG00000147065 HGNC:7373 MTHFD1 gene MTHFD1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 32414565;19033438 False 3 100;0;0 13.3 True ENSG00000100714 ENSG00000100714 HGNC:7432 MVK gene MVK Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000110921 ENSG00000110921 HGNC:7530 MVK gene MVK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome (MIM#260920);Mevalonic aciduria (MIM#610377) Abnormality of the immune system;HP:0002715 29047407;26409462 False 3 100;0;0 13.3 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYD88 gene MYD88 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 68, MIM# 612260 Abnormality of the immune system;HP:0002715 18669862;20538326;31301515 False 3 100;0;0 13.3 True ENSG00000172936 ENSG00000172936 HGNC:7562 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Abnormality of the immune system;HP:0002715 10973259;10973260 False 3 100;0;0 13.3 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYSM1 gene MYSM1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, MIM#618116 Abnormality of the immune system;HP:0002715 24288411;28115216;26220525;32640305 False 3 100;0;0 13.3 True ENSG00000162601 ENSG00000162601 HGNC:29401 MYSM1 gene MYSM1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, MIM#618116 Abnormality of the immune system;HP:0002715 24288411;28115216;26220525;32640305 False 3 100;0;0 13.3 True ENSG00000162601 ENSG00000162601 HGNC:29401 NAF1 gene NAF1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Abnormality of the immune system;HP:0002715 27510903 False 3 100;0;0 13.3 True ENSG00000145414 ENSG00000145414 HGNC:25126 NBAS gene NBAS Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800;Infantile liver failure syndrome 2 MIM#616483 Abnormality of the immune system;HP:0002715 26073778;26286438;33042920 False 3 100;0;0 13.3 True ENSG00000151779 ENSG00000151779 HGNC:15625 NBAS gene NBAS Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541 Abnormality of the immune system;HP:0002715 35902954 False 3 100;0;0 13.3 True ENSG00000151779 ENSG00000151779 HGNC:15625 NBEAL2 gene NBEAL2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome, MIM# 139090;Immune dysregulation Abnormality of the immune system;HP:0002715 PMID: 37349339 False 3 100;0;0 13.3 True ENSG00000160796 ENSG00000160796 HGNC:31928 NBEAL2 gene NBEAL2 Expert Review Green;Expert list;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome, MIM# 139090 Abnormality of the immune system;HP:0002715 21765412;21765411;21765413 False 3 100;0;0 13.3 True ENSG00000160796 ENSG00000160796 HGNC:31928 NBN gene NBN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260;Aplastic anemia, MIM#609135;Leukemia, acute lymphoblastic, MIM#613065 Abnormality of the immune system;HP:0002715 PMID: 11325820, 15338273, 33488600, 33082212 False 3 100;0;0 13.3 True ENSG00000104320 ENSG00000104320 HGNC:7652 NBN gene NBN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000104320 ENSG00000104320 HGNC:7652 NCF1 gene NCF1 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF1 gene NCF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 1, autosomal recessive, MIM# 233700 Abnormality of the immune system;HP:0002715 2011585;11133775;10706888;16972229;16972229 False 3 100;0;0 13.3 True ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Abnormality of the immune system;HP:0002715 7795241;10498624 False 3 100;0;0 13.3 True ENSG00000116701 ENSG00000116701 HGNC:7661 NCF2 gene NCF2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Abnormality of the immune system;HP:0002715 7795241;10498624 False 3 100;0;0 13.3 True ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Abnormality of the immune system;HP:0002715 19692703;16880254;29969437 False 3 100;0;0 13.3 True ENSG00000100365 ENSG00000100365 HGNC:7662 NCKAP1L gene NCKAP1L Expert Review Green;Expert list;Expert Review Green;Literature;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "immunodeficiency 72 with autoinflammation MONDO:0033551" Abnormality of the immune system;HP:0002715 32647003 False 3 100;0;0 13.3 False ENSG00000123338 ENSG00000123338 HGNC:4862 NCKAP1L gene NCKAP1L Expert Review Green;Literature;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency;Immune dysregulation;Immunodeficiency 72 with autoinflammation, MIM# 618982 Abnormality of the immune system;HP:0002715 32647003 False 3 100;0;0 13.3 True ENSG00000123338 ENSG00000123338 HGNC:4862 NCSTN gene NCSTN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acne inversa, familial, 1 MIM#142690 Abnormality of the immune system;HP:0002715 20929727;21412258;32048120 False 3 100;0;0 13.3 True ENSG00000162736 ENSG00000162736 HGNC:17091 NFE2L2 gene NFE2L2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744;Recurrent respiratory and skin infection;Growth retardation;Developmental delay, borderline ID;White matter cerebral lesions" Abnormality of the immune system;HP:0002715 29018201 False 3 100;0;0 13.3 True ENSG00000116044 ENSG00000116044 HGNC:7782 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 26279205;32278790;27022143;7834752 False 3 100;0;0 13.3 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 26279205;32278790;27022143;7834752 False 3 100;0;0 13.3 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 26279205;32278790;27022143;7834752 False 3 100;0;0 13.3 True ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 24140114;24888602;25524009;31417880 False 3 100;0;0 13.3 True ENSG00000077150 ENSG00000077150 HGNC:7795 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 24140114;24888602;25524009;31417880 False 3 100;0;0 13.3 True ENSG00000077150 ENSG00000077150 HGNC:7795 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 24140114;24888602;25524009;31417880 False 3 100;0;0 13.3 True ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 28597146;23864385;23708964 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100906 ENSG00000100906 HGNC:7797 NHEJ1 gene NHEJ1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;MONDO:0012650 Abnormality of the immune system;HP:0002715 16439204;16439205 False 3 100;0;0 13.3 True ENSG00000187736 ENSG00000187736 HGNC:25737 NHP2 gene NHP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2 MIM# 613987;Shortened telomeres;Leukoplakia;Nail dystrophy;Bone marrow failure;Pancytopaenia;reticulate skin pigmentation;Thrombocytopaenia;recurrent opportunistic infections Abnormality of the immune system;HP:0002715 20301779;18523010;31985013 False 3 50;50;0 13.3 True ENSG00000145912 ENSG00000145912 HGNC:14377 NHP2 gene NHP2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Abnormality of the immune system;HP:0002715 18523010;31985013 False 3 100;0;0 13.3 True ENSG00000145912 ENSG00000145912 HGNC:14377 NLRC4 gene NLRC4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 4 - MIM#616115;Autoinflammation with infantile enterocolitis - MIM#616050 Abnormality of the immune system;HP:0002715 25217959;25385754;25217960 False 3 100;0;0 13.3 True ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP1 gene NLRP1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Autoinflammation with arthritis and dyskeratosis, MIM# 617388;Palmoplantar carcinoma, multiple self-healing 615225;Recurrent respiratory papillomatosis" Abnormality of the immune system;HP:0002715 27965258;31484767;27662089 False 3 100;0;0 13.3 True Other ENSG00000091592 ENSG00000091592 HGNC:14374 NLRP12 gene NLRP12 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 2 - MIM#611762 Abnormality of the immune system;HP:0002715 18230725;21360512;24064030;27633793 False 3 100;0;0 13.3 True ENSG00000142405 ENSG00000142405 HGNC:22938 NLRP3 gene NLRP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold inflammatory syndrome 1, MIM# 120100;Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772;CINCA syndrome, MIM#12032915 607115 Abnormality of the immune system;HP:0002715 12032915;12483741;28847925;11687797 False 3 100;0;0 13.3 True ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blau syndrome, MIM# 186580 Abnormality of the immune system;HP:0002715 15459013 False 3 100;0;0 13.3 True ENSG00000167207 ENSG00000167207 HGNC:5331 NOD2 gene NOD2 Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "{Inflammatory bowel disease 1, Crohn disease} 266600;{Yao syndrome} 617321" Abnormality of the immune system;HP:0002715 11385576;17804789 False 3 50;50;0 13.3 True ENSG00000167207 ENSG00000167207 HGNC:5331 NPM1 gene NPM1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure Abnormality of the immune system;HP:0002715 31570891 False 3 100;0;0 13.3 True Other ENSG00000181163 ENSG00000181163 HGNC:7910 NRAS gene NRAS Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune lymphoproliferative syndrome type 4 MONDO:0013767 Abnormality of the immune system;HP:0002715 39060684;17517660;33011939 False 3 100;0;0 13.3 True ENSG00000213281 ENSG00000213281 HGNC:7989 NUDCD3 gene NUDCD3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency;omenn syndrome Abnormality of the immune system;HP:0002715 PMID: 38787962 False 3 100;0;0 13.3 True ENSG00000015676 ENSG00000015676 HGNC:22208 OAS1 gene OAS1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Abnormality of the immune system;HP:0002715 29455859 False 3 100;0;0 13.3 True ENSG00000089127 ENSG00000089127 HGNC:8086 OAS1 gene OAS1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Abnormality of the immune system;HP:0002715 34145065 False 3 100;0;0 13.3 True ENSG00000089127 ENSG00000089127 HGNC:8086 OAS2 gene OAS2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related Abnormality of the immune system;HP:0002715 PMID: 36538032 False 3 100;0;0 13.3 True ENSG00000111335 ENSG00000111335 HGNC:8087 OAS2 gene OAS2 Expert Review Green;Expert list;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related Abnormality of the immune system;HP:0002715 36538032 False 3 100;0;0 13.3 False ENSG00000111335 ENSG00000111335 HGNC:8087 ORAI1 gene ORAI1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9, MIM# 612782 Abnormality of the immune system;HP:0002715 31448844 False 3 100;0;0 13.3 True ENSG00000182500 ENSG00000276045 HGNC:25896 OSTM1 gene OSTM1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5 MIM#259720 Abnormality of the immune system;HP:0002715 12627228;15108279;16813530;23772242;32048120 False 3 100;0;0 13.3 True ENSG00000081087 ENSG00000081087 HGNC:21652 OTULIN gene OTULIN Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 Abnormality of the immune system;HP:0002715 35587511 False 3 100;0;0 13.3 True ENSG00000154124 ENSG00000154124 HGNC:25118 OTULIN gene OTULIN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant, MIM# 621030;Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive, MIM# 617099 Abnormality of the immune system;HP:0002715 27523608;27559085;38630025;38652464;38129331 False 3 100;0;0 13.3 True ENSG00000154124 ENSG00000154124 HGNC:25118 OTULIN gene OTULIN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099" Abnormality of the immune system;HP:0002715 27523608;27559085 False 3 100;0;0 13.3 True ENSG00000154124 ENSG00000154124 HGNC:25118 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000083093 ENSG00000083093 HGNC:26144 PARN gene PARN Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Abnormality of the immune system;HP:0002715 25893599;26342108;25848748 False 3 100;0;0 13.3 True ENSG00000140694 ENSG00000140694 HGNC:8609 PARN gene PARN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Abnormality of the immune system;HP:0002715 25893599;26342108;25848748;32452087 False 3 100;0;0 13.3 True ENSG00000140694 ENSG00000140694 HGNC:8609 PAX1 gene PAX1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Syndromic SCID;dysmorphism;ear abnormalities;Otofaciocervical syndrome 2, MIM# 615560" Abnormality of the immune system;HP:0002715 32111619 False 3 100;0;0 13.3 True ENSG00000125813 ENSG00000125813 HGNC:8615 PEPD gene PEPD NHS GMS;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, MIM#170100 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000124299 ENSG00000124299 HGNC:8840 PGM3 gene PGM3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, MIM# 615816;PGM3-CDG, MONDO:0014353 Abnormality of the immune system;HP:0002715 30578875;31231132;33098103;30157810;28704707 False 3 100;0;0 13.3 True ENSG00000013375 ENSG00000013375 HGNC:8907 PIK3CD gene PIK3CD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14, MIM# 615513 Abnormality of the immune system;HP:0002715 24136356;30018075;24165795 False 3 100;0;0 13.3 True Other ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3CD gene PIK3CD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14B, autosomal recessive, MIM# 619281;Immunodeficiency 14A, autosomal dominant, MIM# 615513 Abnormality of the immune system;HP:0002715 30040974;30336224;29180244;16984281;24136356;24165795;24610295 False 3 100;0;0 13.3 True Other ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3CD gene PIK3CD Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3CG gene PIK3CG Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 97 with autoinflammation, MIM# 619802;Immune dysregulation;HLH-like;childhood-onset antibody defects;cytopenias;T lymphocytic pneumonitis and colitis Abnormality of the immune system;HP:0002715 32001535;31554793 False 3 100;0;0 13.3 True ENSG00000105851 ENSG00000105851 HGNC:8978 PIK3R1 gene PIK3R1 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R1 gene PIK3R1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 36 MIM#616005 Abnormality of the immune system;HP:0002715 32048120;27076228 False 3 100;0;0 13.3 True ENSG00000145675 ENSG00000145675 HGNC:8979 PLCG2 gene PLCG2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Common variable immunodeficiency;Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Abnormality of the immune system;HP:0002715 31853824;32671674;22236196 False 3 100;0;0 13.3 True Other ENSG00000197943 ENSG00000197943 HGNC:9066 PLCG2 gene PLCG2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related;Susceptibility to herpes virus Abnormality of the immune system;HP:0002715 PMID: 37714437 False 3 100;0;0 13.3 True ENSG00000197943 ENSG00000197943 HGNC:9066 PLCG2 gene PLCG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878 Abnormality of the immune system;HP:0002715 31853824;32671674;22236196 False 3 100;0;0 13.3 True ENSG00000197943 ENSG00000197943 HGNC:9066 PLEKHM1 gene PLEKHM1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 6 MIM#611497 Abnormality of the immune system;HP:0002715 17404618;32048120 False 3 100;0;0 13.3 True ENSG00000225190 ENSG00000225190 HGNC:29017 PLG gene PLG Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-4 (HAE4), MIM#619360 Abnormality of the immune system;HP:0002715 28795768;29548426;29987869 False 3 100;0;0 13.3 True ENSG00000122194 ENSG00000122194 HGNC:9071 PNP gene PNP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 22132981;9122228;10859343 False 3 100;0;0 13.3 True ENSG00000198805 ENSG00000198805 HGNC:7892 POLA1 gene POLA1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220" Abnormality of the immune system;HP:0002715 27019227 False 3 100;0;0 13.3 True ENSG00000101868 ENSG00000101868 HGNC:9173 POLA1 gene POLA1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked reticulate pigmentary disorder MONDO:0010523 Abnormality of the immune system;HP:0002715 27019227 False 3 100;0;0 13.3 True ENSG00000101868 ENSG00000101868 HGNC:9173 POLA2 gene POLA2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Telomere biology syndrome MONDO:0100137 Abnormality of the immune system;HP:0002715 39616267 False 3 100;0;0 13.3 True ENSG00000014138 ENSG00000014138 HGNC:30073 POLD1 gene POLD1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 31629014;31449058 False 3 100;0;0 13.3 True ENSG00000062822 ENSG00000062822 HGNC:9175 POLD3 gene POLD3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 Abnormality of the immune system;HP:0002715 37030525;36395985;27524497;38099988 False 3 50;50;0 13.3 True ENSG00000077514 ENSG00000077514 HGNC:20932 POLE gene POLE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal FILS syndrome, MIM# 615139;IMAGE-I syndrome, MIM# 618336 Abnormality of the immune system;HP:0002715 30503519;23230001;25948378 False 3 100;0;0 13.3 True ENSG00000177084 ENSG00000177084 HGNC:9177 POMP gene POMP Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined immunodeficiency;Autoinflammation Abnormality of the immune system;HP:0002715 29805043 False 3 100;0;0 13.3 True ENSG00000132963 ENSG00000132963 HGNC:20330 POMP gene POMP Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted proteasome-associated autoinflammatory syndrome 2 MONDO:0054700 Abnormality of the immune system;HP:0002715 29805043 False 3 100;0;0 13.3 False ENSG00000132963 ENSG00000132963 HGNC:20330 POT1 gene POT1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neoplastic syndrome, MONDO:0015356, POT1-related Abnormality of the immune system;HP:0002715 33119245 False 3 100;0;0 13.3 True ENSG00000128513 ENSG00000128513 HGNC:17284 PRF1 gene PRF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRIM1 gene PRIM1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal primordial dwarfism-immunodeficiency-lipodystrophy syndrome MONDO:0859276 Abnormality of the immune system;HP:0002715 33060134;38773012 False 3 100;0;0 13.3 True ENSG00000198056 ENSG00000198056 HGNC:9369 PRKCD gene PRKCD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III, MIM# 615559;CVID 9 Abnormality of the immune system;HP:0002715 23319571;23666743;23430113;11976687;33047643;29867916 False 3 100;0;0 13.3 True ENSG00000163932 ENSG00000163932 HGNC:9399 PRKCD gene PRKCD Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type III MIM#615559" Abnormality of the immune system;HP:0002715 37794137 False 3 100;0;0 13.3 True ENSG00000163932 ENSG00000163932 HGNC:9399 PRKCD gene PRKCD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III, MIM# 615559;CVID 9 Abnormality of the immune system;HP:0002715 23319571;23666743;23430113;11976687;33047643;29867916 False 3 100;0;0 13.3 True ENSG00000163932 ENSG00000163932 HGNC:9399 PRKDC gene PRKDC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 19075392;23722905 False 3 100;0;0 13.3 True ENSG00000253729 ENSG00000253729 HGNC:9413 PSEN1 gene PSEN1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Acne inversa, familial, 3 MIM#613737 Abnormality of the immune system;HP:0002715 20929727;32048120;33333507;30544224 False 3 100;0;0 13.3 True ENSG00000080815 ENSG00000080815 HGNC:9508 PSENEN gene PSENEN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736 Abnormality of the immune system;HP:0002715 20929727;21412258;27900998;32048120 False 3 100;0;0 13.3 True ENSG00000205155 ENSG00000205155 HGNC:30100 PSMB10 gene PSMB10 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 5, MIM# 619175 Abnormality of the immune system;HP:0002715 31783057;37600812 False 3 50;0;50 13.3 True ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB10 gene PSMB10 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe combined immunodeficiency, MONDO:0015974, PSMB10-related Abnormality of the immune system;HP:0002715 38503300 False 3 100;0;0 13.3 True ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB8 gene PSMB8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1, MIM# 256040;MONDO:0054698 Abnormality of the immune system;HP:0002715 21129723;21881205;21852578;21953331 False 3 100;0;0 13.3 True ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Proteasome-associated autoinflammatory syndrome 3, digenic, MIM# 617591;Proteasome-associated autoinflammatory syndrome 6, MIM# 620796 Abnormality of the immune system;HP:0002715 26524591;34819510 False 3 50;50;0 13.3 True Other ENSG00000240065 ENSG00000240065 HGNC:9546 PSMD12 gene PSMD12 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Stankiewicz-Isidor syndrome MONDO:0054591" Abnormality of the immune system;HP:0002715 39641441;35080150;34906456 False 3 100;0;0 13.3 False ENSG00000197170 ENSG00000197170 HGNC:9557 PSTPIP1 gene PSTPIP1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416;Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000140368 ENSG00000140368 HGNC:9580 PSTPIP1 gene PSTPIP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 11971877;34938582;34778321;34745107;34492165;34047005 False 3 100;0;0 13.3 True ENSG00000140368 ENSG00000140368 HGNC:9580 PTCRA gene PTCRA Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 126, MIM# 620931 Abnormality of the immune system;HP:0002715 38422122 False 3 100;0;0 13.3 True ENSG00000171611 ENSG00000171611 HGNC:21290 PTCRA gene PTCRA Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 126, MIM# 620931 Abnormality of the immune system;HP:0002715 38422122 False 3 100;0;0 13.3 True ENSG00000171611 ENSG00000171611 HGNC:21290 PTEN gene PTEN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrocephaly/autism syndrome MIM#605309;Cowden syndrome 1 MIM#158350;Skewed immune repertoire composition Abnormality of the immune system;HP:0002715 27531073;27426521;32588888 False 3 100;0;0 13.3 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTEN gene PTEN Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PTEN hamartoma tumor syndrome MONDO:0017623 Abnormality of the immune system;HP:0002715 30504085;33532886;26246517 False 3 100;0;0 13.3 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPRC gene PTPRC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971;Hepatitis C virus, susceptibility to MIM# 609532 Abnormality of the immune system;HP:0002715 11145714;12073144;22689986;10700239 False 3 100;0;0 13.3 True ENSG00000081237 ENSG00000081237 HGNC:9666 PUS1 gene PUS1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Abnormality of the immune system;HP:0002715 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 13.3 True ENSG00000177192 ENSG00000177192 HGNC:15508 RAB27A gene RAB27A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2, MIM# 607624 Abnormality of the immune system;HP:0002715 10835631;10704277;19030707;15163896;12058346;10859366 False 3 100;0;0 13.3 True ENSG00000069974 ENSG00000069974 HGNC:9766 RAC2 gene RAC2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 21167572;10758162;10072071;25512081;32542921;31919089 False 3 100;0;0 13.3 True Other ENSG00000128340 ENSG00000128340 HGNC:9802 RAC2 gene RAC2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SCID;recurrent bacterial and viral infections;lymphoproliferation;neutropaenia;reticular dysgenesis;deafness Abnormality of the immune system;HP:0002715 32198141;31919089;31382036;31071452;30723080;30654050 False 3 100;0;0 13.3 True Other ENSG00000128340 ENSG00000128340 HGNC:9802 RAC2 gene RAC2 Expert Review Amber;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SCID;recurrent bacterial and viral infections;lymphoproliferation;neutropaenia;reticular dysgenesis;deafness;selective IgA deficiency;Reduced Ab responses following vaccination Abnormality of the immune system;HP:0002715 32198141;31919089;31382036;31071452;30723080;30654050 False 3 67;33;0 13.3 True ENSG00000128340 ENSG00000128340 HGNC:9802 RAC2 gene RAC2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutrophil immunodeficiency syndrome, MIM# 608203;Common variable immunodeficiency Abnormality of the immune system;HP:0002715 25512081 False 3 100;0;0 13.3 True ENSG00000128340 ENSG00000128340 HGNC:9802 RAD50 gene RAD50 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, MIM# 613078;Hypogammaglobulinaemia Abnormality of the immune system;HP:0002715 PMID: 37794136 False 3 100;0;0 13.3 True ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51C gene RAD51C Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 Abnormality of the immune system;HP:0002715 20400963;29278735 False 3 100;0;0 13.3 True ENSG00000108384 ENSG00000108384 HGNC:9820 RAG1 gene RAG1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889;Combined cellular and humoral immune defects with granulomas MIM# 233650;Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457 Abnormality of the immune system;HP:0002715 16276422;18463379;20489056;9630231;11313270;17476359;8810255;6823332 False 3 100;0;0 13.3 True ENSG00000166349 ENSG00000166349 HGNC:9831 RAG1 gene RAG1 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG1 gene RAG1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative (MIM#601457) Abnormality of the immune system;HP:0002715 26689875;26186701 False 3 100;0;0 13.3 True ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, B cell-negative (MIM#601457) Abnormality of the immune system;HP:0002715 26996199 False 3 100;0;0 13.3 True ENSG00000175097 ENSG00000175097 HGNC:9832 RAG2 gene RAG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457;Combined cellular and humoral immune defects with granulomas MIM# 233650 Abnormality of the immune system;HP:0002715 9630231;11313270;31885011;8810255;15025726;18463379 False 3 100;0;0 13.3 True ENSG00000175097 ENSG00000175097 HGNC:9832 RAG2 gene RAG2 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000175097 ENSG00000175097 HGNC:9832 RANBP2 gene RANBP2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Abnormality of the immune system;HP:0002715 19118815;25128471;25522933;32048120 False 3 100;0;0 13.3 True ENSG00000153201 ENSG00000153201 HGNC:9848 RASGRP1 gene RASGRP1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 64, MIM#618534 Abnormality of the immune system;HP:0002715 29155103;28822832;17675473;27776107;29282224 False 3 100;0;0 13.3 True ENSG00000172575 ENSG00000172575 HGNC:9878 RBCK1 gene RBCK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 29260357;29695863 False 3 100;0;0 13.3 True ENSG00000125826 ENSG00000125826 HGNC:15864 RBCK1 gene RBCK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 29260357;29695863 False 3 100;0;0 13.3 True ENSG00000125826 ENSG00000125826 HGNC:15864 RBM8A gene RBM8A Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM# 274000 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000131795 ENSG00000265241 HGNC:9905 RECQL4 gene RECQL4 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome MONDO:0010002 Abnormality of the immune system;HP:0002715 21143835;26064716 False 3 100;0;0 13.3 True ENSG00000160957 ENSG00000160957 HGNC:9949 RELA gene RELA Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mucocutaneous ulceration, chronic, MIM# 618287;Inflammatory bowel disease Abnormality of the immune system;HP:0002715 PMID: 37273177 False 3 100;0;0 13.3 True ENSG00000173039 ENSG00000173039 HGNC:9955 RELA gene RELA Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mucocutaneous ulceration, chronic, MIM# 618287;Impaired NFkB activation;reduced production of inflammatory cytokines;autoimmune cytopaenias" Abnormality of the immune system;HP:0002715 28600438;29305315;37273177 False 3 100;0;0 13.3 True ENSG00000173039 ENSG00000173039 HGNC:9955 RELA gene RELA Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mucocutaneous ulceration, chronic, MIM# 618287;periodic fever, inflammatory bowel disease, JIA Abnormality of the immune system;HP:0002715 PMID: 37273177 False 3 100;0;0 13.3 True ENSG00000173039 ENSG00000173039 HGNC:9955 RELB gene RELB Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 53, MIM# 617585;T cells: normal number, poor diversity, poor function;recurrent infections" Abnormality of the immune system;HP:0002715 7834753;26385063;39231201;36402602 False 3 33;67;0 13.3 True ENSG00000104856 ENSG00000104856 HGNC:9956 RFX5 gene RFX5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group C MIM# 209920;Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Abnormality of the immune system;HP:0002715 9401005;29527204;30170160;7990905;8642248;7699327 False 3 100;0;0 13.3 True ENSG00000143390 ENSG00000143390 HGNC:9986 RFXANK gene RFXANK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 12618906 False 3 100;0;0 13.3 True ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 9118943;32875002;11258423 False 3 100;0;0 13.3 True ENSG00000133111 ENSG00000133111 HGNC:9988 RHBDF2 gene RHBDF2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Pneumonia;Colitis;Immunodeficiency Abnormality of the immune system;HP:0002715 34937930 False 3 100;0;0 13.3 True ENSG00000129667 ENSG00000129667 HGNC:20788 RIPK1 gene RIPK1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 57, MIM#618108 Abnormality of the immune system;HP:0002715 30026316;30591564;31213653;31827280 False 3 100;0;0 13.3 True ENSG00000137275 ENSG00000137275 HGNC:10019 RIPK1 gene RIPK1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 57, MIM#618108 Abnormality of the immune system;HP:0002715 30026316;30591564;31213653 False 3 100;0;0 13.3 True ENSG00000137275 ENSG00000137275 HGNC:10019 RIPK1 gene RIPK1 Expert Review Green;Expert list;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoinflammation with episodic fever and lymphadenopathy MONDO:0030018 Abnormality of the immune system;HP:0002715 31827280;31827281 False 3 100;0;0 13.3 True Other ENSG00000137275 ENSG00000137275 HGNC:10019 RMRP gene RMRP Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia, MIM# 250250 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000269900 ENSG00000269900 HGNC:10031 RMRP gene RMRP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 16244706;21396580;22420014 False 3 100;0;0 13.3 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 4, MIM# 610333" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2A gene RNASEH2A Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 2, MIM# 610181" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2B gene RNASEH2B Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 3, MIM# 610329" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000172922 ENSG00000172922 HGNC:24116 RNASEH2C gene RNASEH2C Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNF168 gene RNF168 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 19203578;21394101;29255463;21552324 False 3 100;0;0 13.3 True ENSG00000163961 ENSG00000163961 HGNC:26661 RNU4ATAC gene RNU4ATAC Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome MIM#226960;Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710;Roifman syndrome MIM#616651 Abnormality of the immune system;HP:0002715 32048120;26522830;29265708 False 3 100;0;0 13.3 True ENSG00000264229 ENSG00000264229 HGNC:34016 RNU7-1 gene RNU7-1 Expert Review Green;Other Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9 (MIM#619487) Abnormality of the immune system;HP:0002715 33230297;35748970 False 3 100;0;0 13.3 True ENSG00000238923 ENSG00000238923 HGNC:34033 RORC gene RORC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 42, MIM# 616622 Abnormality of the immune system;HP:0002715 26160376 False 3 100;0;0 13.3 True ENSG00000143365 ENSG00000143365 HGNC:10260 RORC gene RORC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 42, MIM# 616622;Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, MONDO:0014710 Abnormality of the immune system;HP:0002715 26160376 False 3 100;0;0 13.3 True ENSG00000143365 ENSG00000143365 HGNC:10260 RPA1 gene RPA1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 34767620 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132383 ENSG00000132383 HGNC:10289 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938 Abnormality of the immune system;HP:0002715 19061985 False 3 100;0;0 13.3 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 12, MIM# 615550" Abnormality of the immune system;HP:0002715 23812780;29599205 False 3 100;0;0 13.3 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 11, MIM# 614900" Abnormality of the immune system;HP:0002715 22431104;39268718 False 3 100;0;0 13.3 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 5, MIM# 612528;MONDO:0012925 Abnormality of the immune system;HP:0002715 18535205;32241839 False 3 100;0;0 13.3 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 6, MIM# 612561;MONDO:0012937 Abnormality of the immune system;HP:0002715 19061985 False 3 100;0;0 13.3 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 9, MIM# 613308 Abnormality of the immune system;HP:0002715 20116044;23718193;25946618 False 3 100;0;0 13.3 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 4, MIM# 612527;MONDO:0012924" Abnormality of the immune system;HP:0002715 17647292;19061985;23812780;23718193 False 3 100;0;0 13.3 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 1, MIM# 105650;MONDO:0007110 Abnormality of the immune system;HP:0002715 9988267;10590074 False 3 100;0;0 13.3 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anemia 3, MIM# 610629;MONDO:0012529 Abnormality of the immune system;HP:0002715 17186470;23812780;25946618 False 3 100;0;0 13.3 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217 Abnormality of the immune system;HP:0002715 20116044;23812780;24942156 False 3 100;0;0 13.3 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 8, MIM# 612563;MONDO:0012939 Abnormality of the immune system;HP:0002715 19061985;23718193;27882484;32772263 False 3 100;0;0 13.3 True ENSG00000171863 ENSG00000171863 HGNC:10440 RPSA gene RPSA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Asplenia, isolated congenital, MIM# 271400 Abnormality of the immune system;HP:0002715 23579497 False 3 100;0;0 13.3 True ENSG00000168028 ENSG00000168028 HGNC:6502 RTEL1 gene RTEL1 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000258366 ENSG00000258366 HGNC:15888 RTEL1 gene RTEL1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, MIM# 615190;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Abnormality of the immune system;HP:0002715 23453664;23329068;25848748;25607374;15210109 False 3 100;0;0 13.3 True ENSG00000258366 ENSG00000258366 HGNC:15888 RTEL1 gene RTEL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 20301779;23329068;15210109;23453664;19461895;25848748;25607374 False 3 100;0;0 13.3 True ENSG00000258366 ENSG00000258366 HGNC:15888 RUNX1 gene RUNX1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Abnormality of the immune system;HP:0002715 10508512;11830488 False 3 100;0;0 13.3 True ENSG00000159216 ENSG00000159216 HGNC:10471 SAMD9 gene SAMD9 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE syndrome, MIM# 617053 Abnormality of the immune system;HP:0002715 31620126 False 3 100;0;0 13.3 True ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9 gene SAMD9 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE syndrome, MIM#617053 Abnormality of the immune system;HP:0002715 27182967 False 3 100;0;0 13.3 True ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ataxia-pancytopenia syndrome, MIM# 159550" Abnormality of the immune system;HP:0002715 27259050;30923096;30322869 False 3 100;0;0 13.3 True Other ENSG00000177409 ENSG00000177409 HGNC:1349 SAMHD1 gene SAMHD1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 5, MIM# 612952" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000101347 ENSG00000101347 HGNC:15925 SAMHD1 gene SAMHD1 Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000101347 ENSG00000101347 HGNC:15925 SASH3 gene SASH3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 102, MIM# 301082 Abnormality of the immune system;HP:0002715 33876203 False 3 100;0;0 13.3 True ENSG00000122122 ENSG00000122122 HGNC:15975 SASH3 gene SASH3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 102, MIM# 301082 Abnormality of the immune system;HP:0002715 33876203 False 3 100;0;0 13.3 True ENSG00000122122 ENSG00000122122 HGNC:15975 SAT1 gene SAT1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Systemic lupus erythematosus, MONDO:0007915, SAT1-related Abnormality of the immune system;HP:0002715 25977808 False 3 50;50;0 13.3 True ENSG00000130066 ENSG00000130066 HGNC:10540 SBDS gene SBDS Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000126524 ENSG00000126524 HGNC:19440 SBDS gene SBDS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000126524 ENSG00000126524 HGNC:19440 SEC23B gene SEC23B Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II , MIM#224100 Abnormality of the immune system;HP:0002715 19561605;19621418 False 3 100;0;0 13.3 True ENSG00000101310 ENSG00000101310 HGNC:10702 SEC61A1 gene SEC61A1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 15, MIM# 620670 Abnormality of the immune system;HP:0002715 28782633 False 3 50;50;0 13.3 True ENSG00000058262 ENSG00000058262 HGNC:18276 SEC61A1 gene SEC61A1 Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056;Immunodeficiency, common variable, 15, MIM# 620670" Abnormality of the immune system;HP:0002715 27392076;28782633 False 3 67;33;0 13.3 True ENSG00000058262 ENSG00000058262 HGNC:18276 SEC61A1 gene SEC61A1 Expert Review Green;Expert list;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056;Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674;Immunodeficiency, common variable, 15, MIM# 620670 Abnormality of the immune system;HP:0002715 27392076;32325141;28782633 False 3 100;0;0 13.3 True ENSG00000058262 ENSG00000058262 HGNC:18276 SENP7 gene SENP7 Expert Review Green;Literature;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Abnormality of the immune system;HP:0002715 38972567 False 3 50;50;0 13.3 True ENSG00000138468 ENSG00000138468 HGNC:30402 SENP7 gene SENP7 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Abnormality of the immune system;HP:0002715 PMID: 37460201;38972567 False 3 50;50;0 13.3 True ENSG00000138468 ENSG00000138468 HGNC:30402 SERPINA1 gene SERPINA1 Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490" Abnormality of the immune system;HP:0002715 33516773 False 3 100;0;0 13.3 True ENSG00000197249 ENSG00000197249 HGNC:8941 SERPING1 gene SERPING1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, 1 and 2, MIM# 106100 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000149131 ENSG00000149131 HGNC:1228 SERPING1 gene SERPING1 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000149131 ENSG00000149131 HGNC:1228 SGPL1 gene SGPL1 Expert Review Green;Literature;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Sphingosine Phosphate Lyase Insufficiency Syndrome;RENI syndrome (MIM#617575) Abnormality of the immune system;HP:0002715 33074640 False 3 100;0;0 13.3 True ENSG00000166224 ENSG00000166224 HGNC:10817 SH2B3 gene SH2B3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Predisposition to haematological malignancies;Myeloproliferation and multi-organ autoimmunity;juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Abnormality of the immune system;HP:0002715 37206266;23908464;38152053;37206266;38152053 False 3 100;0;0 13.3 True ENSG00000111252 ENSG00000111252 HGNC:29605 SH2B3 gene SH2B3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Predisposition to haematological malignancies;Myeloproliferation and multi-organ autoimmunity;juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Abnormality of the immune system;HP:0002715 PMID: 37206266 False 3 100;0;0 13.3 True ENSG00000111252 ENSG00000111252 HGNC:29605 SH2D1A gene SH2D1A Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH2D1A gene SH2D1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH2D1A gene SH2D1A Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Host response to EBV infection;Lymphoproliferative syndrome, X-linked, 1 308240" Abnormality of the immune system;HP:0002715 9771704 False 3 100;0;0 13.3 True ENSG00000183918 ENSG00000183918 HGNC:10820 SH2D1A gene SH2D1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH3BP2 gene SH3BP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism, MIM# 118400 Abnormality of the immune system;HP:0002715 26152156;25705883;25470448;25220465;20301316 False 3 50;0;50 13.3 True Other ENSG00000087266 ENSG00000087266 HGNC:10825 SHARPIN gene SHARPIN Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation with episodic fever and immune dysregulation, MIM# 620795 Abnormality of the immune system;HP:0002715 PMID: 38609546 False 3 100;0;0 13.3 True ENSG00000179526 ENSG00000179526 HGNC:25321 SKIV2L gene SKIV2L Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2, MIM#614602 Abnormality of the immune system;HP:0002715 22444670 False 3 50;50;0 13.3 True ENSG00000204351 ENSG00000204351 HGNC:10898 SKIV2L gene SKIV2L Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000204351 ENSG00000204351 HGNC:10898 SKIV2L gene SKIV2L Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Trichohepatoenteric syndrome 2, MIM# 614602;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair;Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities" Abnormality of the immune system;HP:0002715 22444670 False 3 100;0;0 13.3 True ENSG00000204351 ENSG00000204351 HGNC:10898 SLC19A2 gene SLC19A2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Abnormality of the immune system;HP:0002715 10391221;10978358 False 3 100;0;0 13.3 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Abnormality of the immune system;HP:0002715 19412178 False 3 100;0;0 13.3 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC29A3 gene SLC29A3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782 Abnormality of the immune system;HP:0002715 18940313;19336477;22238637 False 3 100;0;0 13.3 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC35C1 gene SLC35C1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Abnormality of the immune system;HP:0002715 11326279;12116250;33098347;32313197;24403049 False 3 100;0;0 13.3 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC37A4 gene SLC37A4 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC37A4 gene SLC37A4 Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, MIM# 232220 Abnormality of the immune system;HP:0002715 31788408;31536830 False 3 100;0;0 13.3 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC37A4 gene SLC37A4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, MIM# 232220 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A7 gene SLC39A7 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 9, autosomal recessive, MIM# 619693;Antibody deficiency;early onset infections;blistering dermatosis;failure to thrive;thrombocytopaenia Abnormality of the immune system;HP:0002715 30718914 False 3 100;0;0 13.3 True ENSG00000112473 ENSG00000112473 HGNC:4927 SLC46A1 gene SLC46A1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 20301716 False 3 100;0;0 13.3 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC7A7 gene SLC7A7 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Lysinuric protein intolerance, MIM# 222700;Hyper-inflammatory response of macrophages;Normal NK cell function;Lysinuric protein intolerance;Bleeding tendency;Alverolar proteinosis" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLCO2A1 gene SLCO2A1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, SLCO2A1-related;Enteropathy Abnormality of the immune system;HP:0002715 PMID: 29313109 False 3 100;0;0 13.3 True ENSG00000174640 ENSG00000174640 HGNC:10955 SLX4 gene SLX4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, MIM# 613951 Abnormality of the immune system;HP:0002715 21240275;21240277 False 3 100;0;0 13.3 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCAL1 gene SMARCAL1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, MIM# 242900 Abnormality of the immune system;HP:0002715 11799392;17089404 False 3 100;0;0 13.3 True ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCAL1 gene SMARCAL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 20301550;17089404;20036229 False 3 100;0;0 13.3 True ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCD2 gene SMARCD2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Specific granule deficiency 2, MIM# 617475;Neutropaenia;Neurodevelopmental abnormalities in some;Myelodysplasia" Abnormality of the immune system;HP:0002715 28369036;28369034 False 3 100;0;0 13.3 True ENSG00000108604 ENSG00000108604 HGNC:11107 SNORA31 gene SNORA31 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396" Abnormality of the immune system;HP:0002715 31806906 False 3 100;0;0 13.3 True ENSG00000199477 ENSG00000199477 HGNC:32621 SNORA31 gene SNORA31 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Abnormality of the immune system;HP:0002715 31806906 False 3 100;0;0 13.3 False ENSG00000199477 ENSG00000199477 HGNC:32621 SNX10 gene SNX10 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 MIM#615085 Abnormality of the immune system;HP:0002715 22499339;23123320;30885997;32048120;32278070 False 3 100;0;0 13.3 True ENSG00000086300 ENSG00000086300 HGNC:14974 SOCS1 gene SOCS1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375;Common variable immunodeficiency Abnormality of the immune system;HP:0002715 32499645;10490099;10490100 False 3 100;0;0 13.3 True ENSG00000185338 ENSG00000185338 HGNC:19383 SOCS1 gene SOCS1 Expert Review Green;Literature;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375;Early-onset autoimmunity Abnormality of the immune system;HP:0002715 33087723;35976468 False 3 100;0;0 13.3 True ENSG00000185338 ENSG00000185338 HGNC:19383 SOCS1 gene SOCS1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375;Enteropathy Abnormality of the immune system;HP:0002715 PMID: 37156989 False 3 100;0;0 13.3 True ENSG00000185338 ENSG00000185338 HGNC:19383 SP110 gene SP110 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 20301448;31721003 False 3 100;0;0 13.3 True ENSG00000135899 ENSG00000135899 HGNC:5401 SP110 gene SP110 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPI1 gene SPI1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agammaglobulinaemia 10, autosomal dominant, MIM# 619707 Abnormality of the immune system;HP:0002715 33951726 False 3 100;0;0 13.3 True ENSG00000066336 ENSG00000066336 HGNC:11241 SPINK5 gene SPINK5 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 Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 33534181;20657595 False 3 100;0;0 13.3 True ENSG00000133710 ENSG00000133710 HGNC:15464 SRP54 gene SRP54 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752" Abnormality of the immune system;HP:0002715 29914977;28972538 False 3 100;0;0 13.3 True ENSG00000100883 ENSG00000100883 HGNC:11301 SRP54 gene SRP54 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic neutropenia with Shwachman-Diamond-like features Abnormality of the immune system;HP:0002715 28972538 False 3 100;0;0 13.3 True ENSG00000100883 ENSG00000100883 HGNC:11301 STAT1 gene STAT1 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT1 gene STAT1 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT1 gene STAT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 31C, autosomal dominant, MIM# 614162;Predisposition to Mucocutaneous Candidiasis Abnormality of the immune system;HP:0002715 23534974;21714643 False 3 100;0;0 13.3 True ENSG00000115415 ENSG00000115415 HGNC:11362 STAT1 gene STAT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796 Abnormality of the immune system;HP:0002715 12590259;16585605 False 3 100;0;0 13.3 True ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory disorder Abnormality of the immune system;HP:0002715 31836668;32092142 False 3 100;0;0 13.3 True ENSG00000170581 ENSG00000170581 HGNC:11363 STAT2 gene STAT2 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000170581 ENSG00000170581 HGNC:11363 STAT2 gene STAT2 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000170581 ENSG00000170581 HGNC:11363 STAT3 gene STAT3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952;STAT3-related early-onset multisystem autoimmune disease MONDO:0014414" Abnormality of the immune system;HP:0002715 36228738 False 3 100;0;0 13.3 True ENSG00000168610 ENSG00000168610 HGNC:11364 STAT3 gene STAT3 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000168610 ENSG00000168610 HGNC:11364 STAT3 gene STAT3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome , MIM#147060;Mucocutaneous candidiasis Abnormality of the immune system;HP:0002715 PMID: 30185668;PMID: 22751495 False 3 100;0;0 13.3 True Other ENSG00000168610 ENSG00000168610 HGNC:11364 STAT3 gene STAT3 Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 25349174;25038750;25359994;16783372 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STAT3 gene STAT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE recurrent infection syndrome MIM# 147060;Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Abnormality of the immune system;HP:0002715 17881745;14566054;25349174;25038750;25359994 False 3 100;0;0 13.3 True Other ENSG00000168610 ENSG00000168610 HGNC:11364 STAT4 gene STAT4 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disabling pansclerotic morphea of childhood MIM#620443 Abnormality of the immune system;HP:0002715 PMID: 37256972 False 3 100;0;0 13.3 True Other ENSG00000138378 ENSG00000138378 HGNC:11365 STAT5B gene STAT5B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity with immunodeficiency, MIM# 245590 Abnormality of the immune system;HP:0002715 29844444 False 3 100;0;0 13.3 True Other ENSG00000173757 ENSG00000173757 HGNC:11367 STAT6 gene STAT6 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532 Abnormality of the immune system;HP:0002715 PMID: 36216080;36758835 False 3 100;0;0 13.3 True Other ENSG00000166888 ENSG00000166888 HGNC:11368 STAT6 gene STAT6 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyper-IgE syndrome MONDO:0018037 Abnormality of the immune system;HP:0002715 36884218;36758835 False 3 100;0;0 13.3 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166888 ENSG00000166888 HGNC:11368 STIM1 gene STIM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10, MIM# 612783 Abnormality of the immune system;HP:0002715 31448844 False 3 100;0;0 13.3 True ENSG00000167323 ENSG00000167323 HGNC:11386 STK4 gene STK4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM# 614868;CD4/CD8 lymphopaenia;cardiac malformations;reduced na ve 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 Abnormality of the immune system;HP:0002715 22294732;26117625;22174160;22952854 False 3 100;0;0 13.3 True ENSG00000101109 ENSG00000101109 HGNC:11408 STN1 gene STN1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Abnormality of the immune system;HP:0002715 27432940;32627942 False 3 50;50;0 13.3 True ENSG00000107960 ENSG00000107960 HGNC:26200 STX11 gene STX11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552 Abnormality of the immune system;HP:0002715 15703195;16278825;16582076;24459464 False 3 100;0;0 13.3 True ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000076944 ENSG00000076944 HGNC:11445 STXBP2 gene STXBP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000076944 ENSG00000076944 HGNC:11445 STXBP3 gene STXBP3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Bilateral Sensorineural Hearing Loss;Immune Dysregulation Abnormality of the immune system;HP:0002715 33891011 False 3 100;0;0 13.3 True ENSG00000116266 ENSG00000116266 HGNC:11446 STXBP3 gene STXBP3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Bilateral Sensorineural Hearing Loss;Immune Dysregulation Abnormality of the immune system;HP:0002715 33891011 False 3 100;0;0 13.3 True ENSG00000116266 ENSG00000116266 HGNC:11446 SYK gene SYK Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381 Abnormality of the immune system;HP:0002715 33782605 False 3 100;0;0 13.3 True Other ENSG00000165025 ENSG00000165025 HGNC:11491 SYK gene SYK Expert Review Green;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "immunodeficiency 82 with systemic inflammation MONDO:0030308" Abnormality of the immune system;HP:0002715 33782605 False 3 100;0;0 13.3 False Other ENSG00000165025 ENSG00000165025 HGNC:11491 TAP1 gene TAP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I MIM#604571;Low CD8;absent MHC I on lymphocytes;vasculitis;pyoderma gangrenosum;skin lesions;recurrent respiratory tract infections;bronchiectasis Abnormality of the immune system;HP:0002715 28161407;10074494;1473153 False 3 100;0;0 13.3 True ENSG00000168394 ENSG00000168394 HGNC:43 TAP2 gene TAP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "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" Abnormality of the immune system;HP:0002715 7517574;9232449;10560675;27861817 False 3 100;0;0 13.3 True ENSG00000204267 ENSG00000204267 HGNC:44 TAZ gene TAZ Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM# 302060 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000102125 ENSG00000102125 HGNC:11577 TAZ gene TAZ Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM# 302060 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBCE gene TBCE Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410 Abnormality of the immune system;HP:0002715 PMID: 36258138 False 3 100;0;0 13.3 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBK1 gene TBK1 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000183735 ENSG00000183735 HGNC:11584 TBK1 gene TBK1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation with arthritis and vasculitis, MIM# 620880 Abnormality of the immune system;HP:0002715 PMID: 34363755 False 3 100;0;0 13.3 True ENSG00000183735 ENSG00000183735 HGNC:11584 TBK1 gene TBK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary predisposition to infections, MONDO:0015979, TBK1-related Abnormality of the immune system;HP:0002715 22851595 False 3 100;0;0 13.3 True Other ENSG00000183735 ENSG00000183735 HGNC:11584 TBX1 gene TBX1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 Abnormality of the immune system;HP:0002715 20301696;31830774;16684884 False 3 100;0;0 13.3 True ENSG00000184058 ENSG00000184058 HGNC:11592 TBXAS1 gene TBXAS1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, MIM#231095 Abnormality of the immune system;HP:0002715 PMID: 18264100 False 3 100;0;0 13.3 True ENSG00000059377 ENSG00000059377 HGNC:11609 TCF3 gene TCF3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Agammaglobulinaemia 8, autosomal dominant, MIM# 616941;Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Abnormality of the immune system;HP:0002715 24216514;28532655;30063982;8001124;8001125 False 3 100;0;0 13.3 True ENSG00000071564 ENSG00000071564 HGNC:11633 TCF3 gene TCF3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Agammaglobulinaemia 8, autosomal dominant, MIM# 616941;Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Abnormality of the immune system;HP:0002715 24216514;28532655;30063982;8001124;8001125 False 3 100;0;0 13.3 True ENSG00000071564 ENSG00000071564 HGNC:11633 TCIRG1 gene TCIRG1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1 MIM#259700 Abnormality of the immune system;HP:0002715 10888887;31938717;19507210;32048120 False 3 100;0;0 13.3 True ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 32841161;33023511;30124850 False 3 100;0;0 13.3 True ENSG00000185339 ENSG00000185339 HGNC:11653 TCN2 gene TCN2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, MIM#275350 Abnormality of the immune system;HP:0002715 PMID: 24305960, 7980584, 7849710, 20352340, 18956254, 32841161, 33023511, 30124850 False 3 100;0;0 13.3 True ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, MIM# 613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Abnormality of the immune system;HP:0002715 16247010;15814878 False 3 100;0;0 13.3 True ENSG00000164362 ENSG00000164362 HGNC:11730 TET2 gene TET2 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immune dysregulation;Lymphoma;Immunodeficiency-75 (IMD75), MIM#619126 Abnormality of the immune system;HP:0002715 32518946 False 3 100;0;0 13.3 True ENSG00000168769 ENSG00000168769 HGNC:25941 TGFBR1 gene TGFBR1 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR1 gene TGFBR1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1 MIM#609192 Abnormality of the immune system;HP:0002715 24333532;23884466;32048120 False 3 100;0;0 13.3 True Other ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2 MIM#610168 Abnormality of the immune system;HP:0002715 24333532;23884466;32048120 False 3 100;0;0 13.3 True Other ENSG00000163513 ENSG00000163513 HGNC:11773 TGFBR2 gene TGFBR2 Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000163513 ENSG00000163513 HGNC:11773 THPO gene THPO Expert Review Green;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Abnormality of the immune system;HP:0002715 24085763;28559357;29191945;36226497 False 3 100;0;0 13.3 True ENSG00000090534 ENSG00000090534 HGNC:11795 TICAM1 gene TICAM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850 Abnormality of the immune system;HP:0002715 22105173;26513235 False 3 100;0;0 13.3 True ENSG00000127666 ENSG00000127666 HGNC:18348 TICAM1 gene TICAM1 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000127666 ENSG00000127666 HGNC:18348 TINF2 gene TINF2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Abnormality of the immune system;HP:0002715 18669893;21199492;18252230;21477109;33097095 False 3 100;0;0 13.3 True ENSG00000092330 ENSG00000092330 HGNC:11824 TLR3 gene TLR3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Immunodeficiency 83, susceptibility to viral infections}, MIM# 613002 Abnormality of the immune system;HP:0002715 17872438;25339207 False 3 100;0;0 13.3 True ENSG00000164342 ENSG00000164342 HGNC:11849 TLR3 gene TLR3 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000164342 ENSG00000164342 HGNC:11849 TLR7 gene TLR7 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Systemic lupus erythematosus 17, MIM# 301080" Abnormality of the immune system;HP:0002715 35477763 False 3 100;0;0 13.3 True ENSG00000196664 ENSG00000196664 HGNC:15631 TLR7 gene TLR7 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 Abnormality of the immune system;HP:0002715 32706371 False 3 100;0;0 13.3 True ENSG00000196664 ENSG00000196664 HGNC:15631 TLR7 gene TLR7 Expert Review Green;Expert list;Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767 Abnormality of the immune system;HP:0002715 32706371;35708626 False 3 100;0;0 13.3 True ENSG00000196664 ENSG00000196664 HGNC:15631 TLR8 gene TLR8 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoinflammatory syndrome MONDO:0019751, TLR8-associated Abnormality of the immune system;HP:0002715 34981838;33512449 False 3 50;0;50 13.3 True ENSG00000101916 ENSG00000101916 HGNC:15632 TLR8 gene TLR8 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Abnormality of the immune system;HP:0002715 33512449 False 3 100;0;0 13.3 True Other ENSG00000101916 ENSG00000101916 HGNC:15632 TLR8 gene TLR8 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Abnormality of the immune system;HP:0002715 33512449 False 3 100;0;0 13.3 True Other ENSG00000101916 ENSG00000101916 HGNC:15632 TLR8 gene TLR8 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Abnormality of the immune system;HP:0002715 33512449;34981838 False 3 100;0;0 13.3 True Other ENSG00000101916 ENSG00000101916 HGNC:15632 TMC6 gene TMC6 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC6 gene TMC6 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMC8 gene TMC8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformis 2, MIM# 618231 Abnormality of the immune system;HP:0002715 34459021;28646613;12426567 False 3 100;0;0 13.3 True ENSG00000167895 ENSG00000167895 HGNC:20474 TMEFF1 gene TMEFF1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related;HSV encephalitis Abnormality of the immune system;HP:0002715 PMID: 39048830 False 3 100;0;0 13.3 True ENSG00000241697 ENSG00000241697 HGNC:11866 TMEM173 gene TMEM173 Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000184584 ENSG00000184584 HGNC:27962 TMEM173 gene TMEM173 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "STING-associated vasculopathy, infantile-onset, MIM# 615934" Abnormality of the immune system;HP:0002715 25401470;25029335;32673614;36275728 False 3 100;0;0 13.3 True Other ENSG00000184584 ENSG00000184584 HGNC:27962 TNFAIP3 gene TNFAIP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744 Abnormality of the immune system;HP:0002715 26642243 False 3 100;0;0 13.3 True ENSG00000118503 ENSG00000118503 HGNC:11896 TNFAIP3 gene TNFAIP3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory bowel disease;Crohn's disease;Autoinflammatory syndrome, familial, Behcet-like Abnormality of the immune system;HP:0002715 34030699;33446651;32521965;31299923 False 3 100;0;0 13.3 True ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF11A gene TNFRSF11A Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7 MIM#612301 Abnormality of the immune system;HP:0002715 18606301;32048120 False 3 100;0;0 13.3 True ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF13B gene TNFRSF13B Expert Review Green;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Other Immunodeficiency, common variable, 2, MIM# 240500 Abnormality of the immune system;HP:0002715 17392798;16007086;18981294;16007087 False 3 100;0;0 13.3 True ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF13B gene TNFRSF13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Other Immunodeficiency, common variable, 2, MIM# 240500 Abnormality of the immune system;HP:0002715 17392798;16007086;18981294;16007087 False 3 100;0;0 13.3 True ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF1A gene TNFRSF1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, familial, MIM# 142680 Abnormality of the immune system;HP:0002715 10199409 False 3 100;0;0 13.3 True ENSG00000067182 ENSG00000067182 HGNC:11916 TNFRSF9 gene TNFRSF9 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 109 with lymphoproliferation, MIM# 620282;EBV lymphoproliferation;B-cell lymphoma;Chronic active EBV infection Abnormality of the immune system;HP:0002715 30872117 False 3 100;0;0 13.3 True ENSG00000049249 ENSG00000049249 HGNC:11924 TNFRSF9 gene TNFRSF9 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 109 with lymphoproliferation, MIM# 620282 Abnormality of the immune system;HP:0002715 PMID: 37144041 False 3 100;0;0 13.3 True ENSG00000049249 ENSG00000049249 HGNC:11924 TNFSF11 gene TNFSF11 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 MIM#259710 Abnormality of the immune system;HP:0002715 17632511;32048120;10984520 False 3 100;0;0 13.3 True ENSG00000120659 ENSG00000120659 HGNC:11926 TOP2B gene TOP2B Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296;Antibody deficiency;Recurrent infections;Facial dysmorphism;Limb anomalies Abnormality of the immune system;HP:0002715 31409799 False 3 100;0;0 13.3 True ENSG00000077097 ENSG00000077097 HGNC:11990 TP63 gene TP63 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292;lymphopaenia Abnormality of the immune system;HP:0002715 doi: 10.3389/fimmu.2024.1438383 False 3 100;0;0 13.3 True ENSG00000073282 ENSG00000073282 HGNC:15979 TPP2 gene TPP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Abnormality of the immune system;HP:0002715 25525876;25414442;33586135;18362329 False 3 100;0;0 13.3 True ENSG00000134900 ENSG00000134900 HGNC:12016 TRAF3 gene TRAF3 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, TRAF3-related, MONDO:0019751;hypergammaglobulinemia;lymphadenopathy;splenomegaly, Sj gren s syndrome Abnormality of the immune system;HP:0002715 PMID: 35960817 False 3 100;0;0 13.3 True ENSG00000131323 ENSG00000131323 HGNC:12033 TREX1 gene TREX1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "{Systemic lupus erythematosus, susceptibility to} 152700;Aicardi-Goutieres syndrome 1, dominant and recessive 225750" Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000213689 ENSG00000213689 HGNC:12269 TREX1 gene TREX1 Expert Review Green;Expert list;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM22 gene TRIM22 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease Abnormality of the immune system;HP:0002715 26836588 False 3 100;0;0 13.3 True ENSG00000132274 ENSG00000132274 HGNC:16379 TRNT1 gene TRNT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 Abnormality of the immune system;HP:0002715 25193871;23553769;29170023;27389523 False 3 100;0;0 13.3 True ENSG00000072756 ENSG00000072756 HGNC:17341 TRNT1 gene TRNT1 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRNT1 gene TRNT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Abnormality of the immune system;HP:0002715 25193871;23553769;29170023;27389523 False 3 100;0;0 13.3 True ENSG00000072756 ENSG00000072756 HGNC:17341 TTC37 gene TTC37 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 Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC37 gene TTC37 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM#222470;Colitis;Pancolitis;Inflammatory bowel disease-like phenotype;Very Early Onset Inflammatory Bowel Disease Abnormality of the immune system;HP:0002715 29334452;27302973 False 3 100;0;0 13.3 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC37 gene TTC37 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM# 222470;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair:Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities Abnormality of the immune system;HP:0002715 21120949;20176027 False 3 100;0;0 13.3 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC37 gene TTC37 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Trichohepatoenteric syndrome 1, MIM# 222470;Respiratory infections;IUGR;Facial dysmorphic features;Wooly hair:Early-onset intractable diarrhoea;Liver cirrhosis;Platelet abnormalities" Abnormality of the immune system;HP:0002715 21120949;20176027 False 3 100;0;0 13.3 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 Abnormality of the immune system;HP:0002715 30553809;28936210 False 3 100;0;0 13.3 True ENSG00000068724 ENSG00000068724 HGNC:19750 TTC7A gene TTC7A Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150;Very Early Onset Inflammatory Bowel Disease (VEOIBD) Abnormality of the immune system;HP:0002715 30553809;28936210;24417819;24292712;23830146;29174094;31743734 False 3 100;0;0 13.3 True ENSG00000068724 ENSG00000068724 HGNC:19750 TYK2 gene TYK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 35, MIM# 611521 Abnormality of the immune system;HP:0002715 17088085;17521577;26304966 False 3 100;0;0 13.3 True ENSG00000105397 ENSG00000105397 HGNC:12440 UBA1 gene UBA1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders Other Autoinflammatory disease, adult onset;VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic), MIM#301054 Abnormality of the immune system;HP:0002715 33108101 False 3 100;0;0 13.3 True ENSG00000130985 ENSG00000130985 HGNC:12469 UBE2T gene UBE2T Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group T, MIM# 616435" Abnormality of the immune system;HP:0002715 26046368 False 3 100;0;0 13.3 True ENSG00000077152 ENSG00000077152 HGNC:25009 UNC13D gene UNC13D Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Abnormality of the immune system;HP:0002715 14622600;16825436;17993578 False 3 100;0;0 13.3 True ENSG00000092929 ENSG00000092929 HGNC:23147 UNC93B1 gene UNC93B1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, UNC93B1-related Abnormality of the immune system;HP:0002715 PMID: 38869500 False 3 67;0;33 13.3 True Other ENSG00000110057 ENSG00000110057 HGNC:13481 UNG gene UNG Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000076248 ENSG00000076248 HGNC:12572 USB1 gene USB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropaenia, MIM# 604173;MONDO:0011405 Abnormality of the immune system;HP:0002715 25044170;27612988;20004881;20503306;34004352;33624217;33111394;32936385;32620997;31522452 False 3 100;0;0 13.3 True ENSG00000103005 ENSG00000103005 HGNC:25792 USB1 gene USB1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropaenia, MIM# 604173;MONDO:0011405 Abnormality of the immune system;HP:0002715 20004881;20503306;34004352;33624217;33111394;32936385;32620997;31522452 False 3 100;0;0 13.3 True ENSG00000103005 ENSG00000103005 HGNC:25792 USP18 gene USP18 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Pseudo-TORCH syndrome 2, MIM# 617397" Abnormality of the immune system;HP:0002715 31940699;27325888 False 3 100;0;0 13.3 True ENSG00000184979 ENSG00000184979 HGNC:12616 VPS13B gene VPS13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, MIM# 216550 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS45 gene VPS45 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Abnormality of the immune system;HP:0002715 23738510;23599270;33623350;32037586;30294941 False 3 100;0;0 13.3 True ENSG00000136631 ENSG00000136631 HGNC:14579 VPS45 gene VPS45 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Abnormality of the immune system;HP:0002715 23599270;23738510 False 3 100;0;0 13.3 True ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS 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 Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropaenia, severe congenital, X-linked MIM# 300299;Wiskott-Aldrich syndrome MIM# 301000;Thrombocytopaenia, X-linked MIM# 313900 Abnormality of the immune system;HP:0002715 11242115;19006568;16804117;8069912;10575547;7579329;7795648;23807894 False 3 100;0;0 13.3 True Other ENSG00000015285 ENSG00000015285 HGNC:12731 WAS gene WAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 False ENSG00000015285 ENSG00000015285 HGNC:12731 WAS gene WAS Victorian Clinical Genetics Services;Expert Review Green Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 3 0;0;0 13.3 False ENSG00000015285 ENSG00000015285 HGNC:12731 WAS gene WAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropaenia, severe congenital, X-linked, MIM# 300299 Abnormality of the immune system;HP:0002715 11242115;16804117;19006568 False 3 100;0;0 13.3 True ENSG00000015285 ENSG00000015285 HGNC:12731 WAS gene WAS Expert Review Green;Expert list;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott-Aldrich syndrome, MIM# 301000;Thrombocytopenia, X-linked, MIM# 313900 Abnormality of the immune system;HP:0002715 False 3 100;0;0 13.3 True ENSG00000015285 ENSG00000015285 HGNC:12731 WDR1 gene WDR1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550 Abnormality of the immune system;HP:0002715 27557945;29751004;27994071 False 3 100;0;0 13.3 True ENSG00000071127 ENSG00000071127 HGNC:12754 WDR1 gene WDR1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550;Neutropaenia;Poor wound healing;Severe stomatitis;Neutrophil nuclei herniate;Autoinflammatory periodic fever;Thrombocytopaenia Abnormality of the immune system;HP:0002715 27994071;27557945;29751004 False 3 100;0;0 13.3 True ENSG00000071127 ENSG00000071127 HGNC:12754 WIPF1 gene WIPF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 22231303;27742395;11869681;14757742 False 3 100;0;0 13.3 True ENSG00000115935 ENSG00000115935 HGNC:12736 WIPF1 gene WIPF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 22231303;27742395;11869681;14757742 False 3 100;0;0 13.3 True ENSG00000115935 ENSG00000115935 HGNC:12736 WIPF1 gene WIPF1 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Wiskott-Aldrich syndrome 2, MIM# 614493" Abnormality of the immune system;HP:0002715 27742395;11869681;22231303;14757742;9405671 False 3 100;0;0 13.3 True ENSG00000115935 ENSG00000115935 HGNC:12736 WRAP53 gene WRAP53 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Abnormality of the immune system;HP:0002715 21205863;32303682;29514627 False 3 100;0;0 13.3 True ENSG00000141499 ENSG00000141499 HGNC:25522 XIAP gene XIAP Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked lymphoproliferative syndrome 2;inflammatory bowel disease;colitis Abnormality of the immune system;HP:0002715 25666262;17080092;21173700;25943627;22228567;26182687;31232887 False 3 100;0;0 13.3 True ENSG00000101966 ENSG00000101966 HGNC:592 XIAP gene XIAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Abnormality of the immune system;HP:0002715 22228567;25943627 False 3 100;0;0 13.3 True ENSG00000101966 ENSG00000101966 HGNC:592 XIAP gene XIAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Abnormality of the immune system;HP:0002715 22228567;25943627 False 3 100;0;0 13.3 True ENSG00000101966 ENSG00000101966 HGNC:592 XIAP gene XIAP Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Lymphoproliferative syndrome, X-linked, 2 300635;Host response to EBV" Abnormality of the immune system;HP:0002715 17080092 False 3 100;0;0 13.3 True ENSG00000101966 ENSG00000101966 HGNC:592 ZAP70 gene ZAP70 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 48, MIM# 269840;Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Abnormality of the immune system;HP:0002715 8124727;8202712;11412303;26783323;33628209;33531381 False 3 100;0;0 13.3 True Other ENSG00000115085 ENSG00000115085 HGNC:12858 ZAP70 gene ZAP70 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Abnormality of the immune system;HP:0002715 26783323;32431715;32048120 False 3 100;0;0 13.3 True ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB24 gene ZBTB24 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 21596365;21906047;27626380;32061411 False 3 100;0;0 13.3 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZCCHC8 gene ZCCHC8 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Abnormality of the immune system;HP:0002715 31488579;38375433 False 3 50;50;0 13.3 True ENSG00000033030 ENSG00000033030 HGNC:25265 ZNF341 gene ZNF341 Expert Review Green;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "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" Abnormality of the immune system;HP:0002715 29907691;29907690 False 3 100;0;0 13.3 True ENSG00000131061 ENSG00000131061 HGNC:15992 ZNFX1 gene ZNFX1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, MIM# 619644 Abnormality of the immune system;HP:0002715 33872655 False 3 100;0;0 13.3 True ENSG00000124201 ENSG00000124201 HGNC:29271 ZNFX1 gene ZNFX1 Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation, MIM# 619644 Abnormality of the immune system;HP:0002715 33872655 False 3 100;0;0 13.3 True ENSG00000124201 ENSG00000124201 HGNC:29271 ZNFX1 gene ZNFX1 Expert Review Green;Expert list;Expert Review Green;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 91 and hyperinflammation MONDO:0030491 Abnormality of the immune system;HP:0002715 33872655 False 3 100;0;0 13.3 False ENSG00000124201 ENSG00000124201 HGNC:29271 ACTB gene ACTB Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM# 243310 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000075624 ENSG00000075624 HGNC:132 ALPI gene ALPI Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, MONDO:0005265, ALPI-related Abnormality of the immune system;HP:0002715 29567797;32084423 False 2 0;100;0 13.3 True ENSG00000163295 ENSG00000163295 HGNC:437 ANGPT1 gene ANGPT1 Expert Review Amber;Other Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-5 (HAE5), MIM#619361 Abnormality of the immune system;HP:0002715 28601681;24852101;30689269;10617467;8980224 False 2 0;100;0 13.3 True ENSG00000154188 ENSG00000154188 HGNC:484 AP1S3 gene AP1S3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Psoriasis 15, pustular, susceptibility to} 616106 Abnormality of the immune system;HP:0002715 24791904;27388993 False 2 0;100;0 13.3 True ENSG00000152056 ENSG00000152056 HGNC:18971 ARHGEF1 gene ARHGEF1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of the immune system;HP:0002715 32048120;30521495;16286020 False 2 0;100;0 13.3 True ENSG00000076928 ENSG00000076928 HGNC:681 ARHGEF1 gene ARHGEF1 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 62, MIM#618459 Abnormality of the immune system;HP:0002715 32048120;30521495;16286020 False 2 0;50;50 13.3 True ENSG00000076928 ENSG00000076928 HGNC:681 BLK gene BLK Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted common variable immunodeficiency Abnormality of the immune system;HP:0002715 25926555 False 2 0;100;0 13.3 True ENSG00000136573 ENSG00000136573 HGNC:1057 C17orf62 gene C17orf62 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease Abnormality of the immune system;HP:0002715 28600779, 30361506 False 2 0;100;0 13.3 True ENSG00000178927 ENSG00000178927 HGNC:28672 C4A gene C4A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C4a deficiency MIM#614380;susceptibility systemic lupus erythematosus Abnormality of the immune system;HP:0002715 22387014;22737222;15998580;10529130;15294999;32048120 False 2 0;100;0 13.3 True ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal susceptibility to autoimmune disease;C4B deficiency MIM#614379 Abnormality of the immune system;HP:0002715 34764957;12626442;22387014;17503323;32048120 False 2 0;100;0 13.3 True ENSG00000224389 ENSG00000224389 HGNC:1324 C8A gene C8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type I MIM#613790 Abnormality of the immune system;HP:0002715 9759902;32769119 False 2 0;100;0 13.3 True ENSG00000157131 ENSG00000157131 HGNC:1352 CARD8 gene CARD8 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inflammatory bowel disease-30, MIM#619079 Abnormality of the immune system;HP:0002715 29408806 False 2 0;50;50 13.3 True ENSG00000105483 ENSG00000105483 HGNC:17057 CASP8 gene CASP8 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Abnormality of the immune system;HP:0002715 12353035;25814141;12654726;17213198;16148088 False 2 0;50;50 13.3 True ENSG00000064012 ENSG00000064012 HGNC:1509 CASP8 gene CASP8 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type IIB MIM#607271 Abnormality of the immune system;HP:0002715 12353035;25814141;12654726;17213198;16148088 False 2 0;100;0 13.3 True ENSG00000064012 ENSG00000064012 HGNC:1509 CD274 gene CD274 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790 Abnormality of the immune system;HP:0002715 PMID: 38634869 False 2 0;100;0 13.3 True ENSG00000120217 ENSG00000120217 HGNC:17635 CD28 gene CD28 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901 Abnormality of the immune system;HP:0002715 34214472 False 2 0;100;0 13.3 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD28 gene CD28 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-123 with HPV-related verrucosis (IMD123), MIM#620901;isolated susceptibility to cutaneous - and -HPVs Abnormality of the immune system;HP:0002715 PMID: 34214472 False 2 0;50;50 13.3 True ENSG00000178562 ENSG00000178562 HGNC:1653 CD8A gene CD8A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal CD8 deficiency, familial, MIM# 608957 Abnormality of the immune system;HP:0002715 11435463;17658607;26563160 False 2 0;100;0 13.3 True ENSG00000153563 ENSG00000153563 HGNC:1706 CEBPE gene CEBPE Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 108 with autoinflammation , MIM# 260570" Abnormality of the immune system;HP:0002715 PMID: 31201888 False 2 0;100;0 13.3 True Other ENSG00000092067 ENSG00000092067 HGNC:1836 CFB gene CFB Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Complement factor B deficiency, MIM# 615561 Abnormality of the immune system;HP:0002715 24152280 False 2 0;100;0 13.3 True ENSG00000243649 ENSG00000243649 HGNC:1037 COPG1 gene COPG1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 128, MIM# 620983 Abnormality of the immune system;HP:0002715 PMID: 33529166 False 2 0;50;50 13.3 True ENSG00000181789 ENSG00000181789 HGNC:2236 CTNNBL1 gene CTNNBL1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846" Abnormality of the immune system;HP:0002715 32484799 False 2 0;100;0 13.3 True ENSG00000132792 ENSG00000132792 HGNC:15879 CTNNBL1 gene CTNNBL1 Expert Review Amber;Expert list;Expert Review Amber;Literature;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal common variable immunodeficiency MONDO:0015517 Abnormality of the immune system;HP:0002715 23343763;32484799 False 2 0;100;0 13.3 True ENSG00000132792 ENSG00000132792 HGNC:15879 CXCR4 gene CXCR4 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, MIM# 193670 Abnormality of the immune system;HP:0002715 12692554 False 2 0;100;0 13.3 True ENSG00000121966 ENSG00000121966 HGNC:2561 DOCK2 gene DOCK2 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Genetic hemophagocytic lymphohistiocytosis MONDO:0015541 Abnormality of the immune system;HP:0002715 PMID: 36836791 False 2 50;50;0 13.3 True ENSG00000134516 ENSG00000134516 HGNC:2988 EPCAM gene EPCAM Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhea 5, with tufting enteropathy, congenital, MIM# 613217 Abnormality of the immune system;HP:0002715 27302973 False 2 0;100;0 13.3 True ENSG00000119888 ENSG00000119888 HGNC:11529 ERBIN gene ERBIN Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Combined immunodeficiency, MONDO:0015131, ERBIN-related;Recurrent respiratory infections;Susceptibility to S.aureus;Eczema;Hyperextensible joints;Scoliosis;Arterial dilatation in some Abnormality of the immune system;HP:0002715 28126831 False 2 0;100;0 13.3 True ENSG00000112851 ENSG00000112851 HGNC:15842 FCGR3A gene FCGR3A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, MIM# 615707 Abnormality of the immune system;HP:0002715 8874200;23006327;8608639 False 2 0;100;0 13.3 True ENSG00000203747 ENSG00000203747 HGNC:3619 FCGR3A gene FCGR3A Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, MIM# 615707 Abnormality of the immune system;HP:0002715 8874200;23006327;8608639 False 2 0;100;0 13.3 True ENSG00000203747 ENSG00000203747 HGNC:3619 FCN3 gene FCN3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to ficolin 3 deficiency, MIM# 613860 Abnormality of the immune system;HP:0002715 25662573;22226667;19535802;20971976 False 2 0;100;0 13.3 True ENSG00000142748 ENSG00000142748 HGNC:3625 FGL2 gene FGL2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, FGL2-related Abnormality of the immune system;HP:0002715 PMID: 36243222 False 2 0;50;50 13.3 True ENSG00000127951 ENSG00000127951 HGNC:3696 FLT3LG gene FLT3LG Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 125 MIM#620926 Abnormality of the immune system;HP:0002715 10828034;38701783 False 2 0;100;0 13.3 True ENSG00000090554 ENSG00000090554 HGNC:3766 FLT3LG gene FLT3LG Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 125, MIM# 620926 Abnormality of the immune system;HP:0002715 38701783 False 2 0;33;67 13.3 True ENSG00000090554 ENSG00000090554 HGNC:3766 FOXI3 gene FOXI3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted thymic dysplasia MONDO:0004195 Abnormality of the immune system;HP:0002715 35987349;31600545 False 2 0;100;0 13.3 True ENSG00000214336 ENSG00000214336 HGNC:35123 GATA3 gene GATA3 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immune dysregulation;Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255 Abnormality of the immune system;HP:0002715 PMID: 31238969 False 2 0;100;0 13.3 True Other ENSG00000107485 ENSG00000107485 HGNC:4172 GUK1 gene GUK1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Abnormality of the immune system;HP:0002715 39230499 False 2 0;100;0 13.3 True ENSG00000143774 ENSG00000143774 HGNC:4693 HCK gene HCK Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296 Abnormality of the immune system;HP:0002715 PMID: 34536415 False 2 0;100;0 13.3 True Other ENSG00000101336 ENSG00000101336 HGNC:4840 HOXA11 gene HOXA11 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 Abnormality of the immune system;HP:0002715 11101832;16765069 False 2 0;100;0 13.3 True ENSG00000005073 ENSG00000005073 HGNC:5101 HSPA1L gene HSPA1L Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265, HSPA1L-related Abnormality of the immune system;HP:0002715 28126021 False 2 0;100;0 13.3 True ENSG00000204390 ENSG00000204390 HGNC:5234 ICOSLG gene ICOSLG Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia Abnormality of the immune system;HP:0002715 31532372;30498080 False 2 0;100;0 13.3 True ENSG00000160223 ENSG00000160223 HGNC:17087 ICOSLG gene ICOSLG Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 119, MIM# 620825;Combined immunodeficiency;recurrent bacterial and viral infections;neutropaenia Abnormality of the immune system;HP:0002715 31532372;30498080 False 2 0;100;0 13.3 True ENSG00000160223 ENSG00000160223 HGNC:17087 IFNG gene IFNG Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal inherited susceptibility to mycobacterial diseases MONDO:0019146 Abnormality of the immune system;HP:0002715 32163377;38363432 False 2 0;100;0 13.3 True ENSG00000111537 ENSG00000111537 HGNC:5438 IGKC gene IGKC Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal recurrent infections associated with rare immunoglobulin isotypes deficiency MONDO:0013576 Abnormality of the immune system;HP:0002715 https://search.clinicalgenome.org/CCID:005121 False 2 0;100;0 13.3 True ENSG00000211592 ENSG00000211592 HGNC:5716 IKBKE gene IKBKE Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Abnormality of the immune system;HP:0002715 37937644 False 2 0;100;0 13.3 True - - HGNC:14552 IKBKE gene IKBKE Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related Abnormality of the immune system;HP:0002715 PMID: 37937644 False 2 0;100;0 13.3 True - - HGNC:14552 IL27RA gene IL27RA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Abnormality of the immune system;HP:0002715 38509369 False 2 0;100;0 13.3 True ENSG00000104998 ENSG00000104998 HGNC:17290 IL27RA gene IL27RA Expert Review Amber;Expert list;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection MONDO:0005111 , IL27RA-related Abnormality of the immune system;HP:0002715 38509369 False 2 0;100;0 13.3 True ENSG00000104998 ENSG00000104998 HGNC:17290 IL6R gene IL6R Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent pyogenic infections, cold abscesses;High circulating IL-6 levels;High IgE;IgE recurrent infection syndrome, MIM#618944 Abnormality of the immune system;HP:0002715 31235509 False 2 0;100;0 13.3 True ENSG00000160712 ENSG00000160712 HGNC:6019 INO80 gene INO80 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Primary immunodeficiency, MONDO:0003778 Abnormality of the immune system;HP:0002715 25312759 False 2 0;100;0 13.3 True ENSG00000128908 ENSG00000128908 HGNC:26956 IRF3 gene IRF3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM# 616532" Abnormality of the immune system;HP:0002715 26216125;20660188;26513235 False 2 0;100;0 13.3 True ENSG00000126456 ENSG00000126456 HGNC:6118 IRF3 gene IRF3 Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted encephalitis, acute, infection-induced, susceptibility to MONDO:0800174 Abnormality of the immune system;HP:0002715 26216125;20660188;26513235 False 2 0;100;0 13.3 False ENSG00000126456 ENSG00000126456 HGNC:6118 IRF9 gene IRF9 Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency 65, susceptibility to viral infections MONDO:0032848 Abnormality of the immune system;HP:0002715 30826365;30143481 False 2 0;100;0 13.3 False ENSG00000213928 ENSG00000213928 HGNC:6131 IRF9 gene IRF9 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 65, susceptibility to viral infections 618648" Abnormality of the immune system;HP:0002715 30826365;30143481 False 2 0;100;0 13.3 True ENSG00000213928 ENSG00000213928 HGNC:6131 ITGAV gene ITGAV Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, ITGAV-related Abnormality of the immune system;HP:0002715 39526957 False 2 0;100;0 13.3 True ENSG00000138448 ENSG00000138448 HGNC:6150 JAK1 gene JAK1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Susceptibility to mycobacteria and viruses;Viral infections;Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999 Abnormality of the immune system;HP:0002715 28008925;30671064 False 2 0;100;0 13.3 True ENSG00000162434 ENSG00000162434 HGNC:6190 KIF23 gene KIF23 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, congenital dyserythropoietic, type IIIA 105600 Abnormality of the immune system;HP:0002715 23570799;33159567 False 2 0;100;0 13.3 True ENSG00000137807 ENSG00000137807 HGNC:6392 KMT2A gene KMT2A Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome MIM#605130 Abnormality of the immune system;HP:0002715 32048120;28623346;27320412 False 2 0;100;0 13.3 True ENSG00000118058 ENSG00000118058 HGNC:7132 KNG1 gene KNG1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary angioedema-6 (HAE6), MIM#619363 Abnormality of the immune system;HP:0002715 31087670;33114181 False 2 0;100;0 13.3 True ENSG00000113889 ENSG00000113889 HGNC:6383 LAMTOR2 gene LAMTOR2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Abnormality of the immune system;HP:0002715 17195838;24092934 False 2 0;100;0 13.3 True ENSG00000116586 ENSG00000116586 HGNC:29796 LCP1 gene LCP1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Abnormality of the immune system;HP:0002715 38710235 False 2 0;100;0 13.3 True ENSG00000136167 ENSG00000136167 HGNC:6528 LCP1 gene LCP1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Abnormality of the immune system;HP:0002715 PMID: 38710235 False 2 0;100;0 13.3 True Other ENSG00000136167 ENSG00000136167 HGNC:6528 LCP2 gene LCP2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 81, MIM# 619374;Severe combined immunodeficiency Abnormality of the immune system;HP:0002715 33231617 False 2 0;100;0 13.3 True ENSG00000043462 ENSG00000043462 HGNC:6529 MADD gene MADD Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal HLH, enteropathy Abnormality of the immune system;HP:0002715 PMID: 36206192 False 2 50;50;0 13.3 True ENSG00000110514 ENSG00000110514 HGNC:6766 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related;Combined Immune deficiency Abnormality of the immune system;HP:0002715 38622837;35637269;31775018 False 2 0;33;67 13.3 True ENSG00000013288 ENSG00000013288 HGNC:29623 MAPK8 gene MAPK8 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chronic mucocutaneous candidiasis;Connective tissue disorders Abnormality of the immune system;HP:0002715 31784499 False 2 0;100;0 13.3 True ENSG00000107643 ENSG00000107643 HGNC:6881 MASTL gene MASTL Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Unknown Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000120539 ENSG00000120539 HGNC:19042 MCM10 gene MCM10 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313;Susceptibility to CMV Abnormality of the immune system;HP:0002715 32865517;33712616 False 2 0;50;50 13.3 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM10 gene MCM10 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0030266 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000065328 ENSG00000065328 HGNC:18043 MCM4 gene MCM4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 22354167;22354170;22499342 False 2 0;100;0 13.3 True ENSG00000104738 ENSG00000104738 HGNC:6947 MDM4 gene MDM4 Expert Review Amber;Other Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted bone marrow failure syndrome MONDO:0000159, MDM4-related Abnormality of the immune system;HP:0002715 32300648;33104793 False 2 0;100;0 13.3 True ENSG00000198625 ENSG00000198625 HGNC:6974 MKL1 gene MKL1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia with combined immune deficiency Abnormality of the immune system;HP:0002715 32128589;26224645 False 2 0;100;0 13.3 True ENSG00000196588 ENSG00000196588 HGNC:14334 MS4A1 gene MS4A1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 5, MIM# 613495 Abnormality of the immune system;HP:0002715 20038800 False 2 0;50;50 13.3 True ENSG00000156738 ENSG00000156738 HGNC:7315 MS4A1 gene MS4A1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 5, MIM# 613495 Abnormality of the immune system;HP:0002715 20038800 False 2 0;50;50 13.3 True ENSG00000156738 ENSG00000156738 HGNC:7315 NFAT5 gene NFAT5 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune deficiency disease, MONDO:0003778, NFAT5-related;Recurrent infections;Autoimmune enterocolopathy;EBV susceptibility;HLH Abnormality of the immune system;HP:0002715 25667416;36238298 False 2 0;50;50 13.3 True ENSG00000102908 ENSG00000102908 HGNC:7774 NFATC1 gene NFATC1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of immunity, MONDO:0003778, NFATC1-related;Combined Immune deficiency Abnormality of the immune system;HP:0002715 PMID: 37249233 False 2 0;100;0 13.3 True ENSG00000131196 ENSG00000131196 HGNC:7775 NFATC2 gene NFATC2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Abnormality of the immune system;HP:0002715 35789258;38427060 False 2 0;33;67 13.3 True ENSG00000101096 ENSG00000101096 HGNC:7776 NFATC2 gene NFATC2 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related Abnormality of the immune system;HP:0002715 35789258;38427060 False 2 0;33;67 13.3 True ENSG00000101096 ENSG00000101096 HGNC:7776 NLRC4 gene NLRC4 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with infantile enterocolitis, MIM# 616050 Abnormality of the immune system;HP:0002715 25217959;25217960 False 2 0;100;0 13.3 True Other ENSG00000091106 ENSG00000091106 HGNC:16412 NOP10 gene NOP10 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 Abnormality of the immune system;HP:0002715 17507419;32139460;32554502 False 2 0;100;0 13.3 True ENSG00000182117 ENSG00000182117 HGNC:14378 NOX1 gene NOX1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Inflammatory bowel disease, MONDO:0005265, NOX1-related Abnormality of the immune system;HP:0002715 PMID: 29091079;32064493 False 2 0;100;0 13.3 True ENSG00000007952 ENSG00000007952 HGNC:7889 NSMCE3 gene NSMCE3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Abnormality of the immune system;HP:0002715 27427983 False 2 0;100;0 13.3 True ENSG00000185115 ENSG00000185115 HGNC:7677 P2RY8 gene P2RY8 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Systemic lupus erythematosus, MONDO:0007915, P2RY8-related Abnormality of the immune system;HP:0002715 34889940 False 2 50;50;0 13.3 True ENSG00000182162 ENSG00000182162 HGNC:15524 PAX5 gene PAX5 Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder MONDO:0700092, PAX5-related;Hypogammaglobulinaemia Abnormality of the immune system;HP:0002715 PMID: 35947077 False 2 33;67;0 13.3 True ENSG00000196092 ENSG00000196092 HGNC:8619 PI4KA gene PI4KA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708 Abnormality of the immune system;HP:0002715 34415310 False 2 0;100;0 13.3 True ENSG00000241973 ENSG00000241973 HGNC:8983 PIK3CG gene PIK3CG Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 97 with autoinflammation, MIM# 619802;Humoral deficiency;Immune dysregulation;HLH Abnormality of the immune system;HP:0002715 PMID: 31554793;PMID: 33054089 False 2 0;100;0 13.3 True ENSG00000105851 ENSG00000105851 HGNC:8978 PLCG1 gene PLCG1 Expert Review Amber;Expert Review;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514 Abnormality of the immune system;HP:0002715 PMID: 37422272 False 2 0;100;0 13.3 True Other ENSG00000124181 ENSG00000124181 HGNC:9065 PMS2 gene PMS2 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, MIM# 276300 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000122512 ENSG00000122512 HGNC:9122 PMVK gene PMVK Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, PMVK-related Abnormality of the immune system;HP:0002715 PMID: 37364720;36410683 False 2 0;100;0 13.3 False ENSG00000163344 ENSG00000163344 HGNC:9141 POLD2 gene POLD2 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 31449058;36528861 False 2 0;50;50 13.3 True ENSG00000106628 ENSG00000106628 HGNC:9176 POLD3 gene POLD3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 122, MIM# 620869 Abnormality of the immune system;HP:0002715 38099988;37030525 False 2 0;100;0 13.3 True ENSG00000077514 ENSG00000077514 HGNC:20932 POLR3A gene POLR3A Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection Abnormality of the immune system;HP:0002715 28783042;29728610 False 2 0;100;0 13.3 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3A gene POLR3A Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted varicella zoster infection MONDO:0005608 Abnormality of the immune system;HP:0002715 28783042;29728610 False 2 0;100;0 13.3 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3C gene POLR3C Expert Review Amber;Expert list;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted varicella zoster infection MONDO:0005608 Abnormality of the immune system;HP:0002715 28783042 False 2 0;100;0 13.3 False ENSG00000186141 ENSG00000186141 HGNC:30076 POLR3C gene POLR3C Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection Abnormality of the immune system;HP:0002715 28783042 False 2 0;100;0 13.3 True ENSG00000186141 ENSG00000186141 HGNC:30076 POU2AF1 gene POU2AF1 Expert Review Amber;Expert Review;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia, MONDO:0015977, POU2AF1-related Abnormality of the immune system;HP:0002715 PMID: 33571536 False 2 0;33;67 13.3 True ENSG00000110777 ENSG00000110777 HGNC:9211 PSMA3 gene PSMA3 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Other Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040 Abnormality of the immune system;HP:0002715 26524591 False 2 0;100;0 13.3 True ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB4 gene PSMB4 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders Other Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591 Abnormality of the immune system;HP:0002715 26524591 False 2 0;100;0 13.3 True ENSG00000159377 ENSG00000159377 HGNC:9541 PTPN13 gene PTPN13 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal bone marrow failure syndrome MONDO#0000159, PTPN13-related Abnormality of the immune system;HP:0002715 35643866 False 2 0;100;0 13.3 True ENSG00000163629 ENSG00000163629 HGNC:9646 PTPN2 gene PTPN2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lupus;arthritis;common variable immunodeficiency Abnormality of the immune system;HP:0002715 32499645;27658548 False 2 0;100;0 13.3 True ENSG00000175354 ENSG00000175354 HGNC:9650 RAC2 gene RAC2 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Common variable immunodeficiency Abnormality of the immune system;HP:0002715 25512081;32048120;14564011 False 2 0;100;0 13.3 True ENSG00000128340 ENSG00000128340 HGNC:9802 RAP1B gene RAP1B Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Abnormality of the immune system;HP:0002715 35451551;32627184;26280580 False 2 0;100;0 13.3 True ENSG00000127314 ENSG00000127314 HGNC:9857 RASGRP1 gene RASGRP1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 64 MIM#618534" Abnormality of the immune system;HP:0002715 29155103;39752212 False 2 0;100;0 13.3 True ENSG00000172575 ENSG00000172575 HGNC:9878 RC3H1 gene RC3H1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Relapsing HLH;Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998" Abnormality of the immune system;HP:0002715 31636267 False 2 0;100;0 13.3 True ENSG00000135870 ENSG00000135870 HGNC:29434 REL gene REL Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of the immune system;HP:0002715 31103457;34623332 False 2 50;50;0 13.3 True ENSG00000162924 ENSG00000162924 HGNC:9954 REXO2 gene REXO2 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related Abnormality of the immune system;HP:0002715 PMID: 39107301 False 2 0;100;0 13.3 True Other ENSG00000076043 ENSG00000076043 HGNC:17851 RFWD3 gene RFWD3 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group W, MIM# 617784" Abnormality of the immune system;HP:0002715 28691929;38058754 False 2 0;50;50 13.3 True ENSG00000168411 ENSG00000168411 HGNC:25539 RHOG gene RHOG Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Genetic HLH, MONDO:0015541, RHOG-related Abnormality of the immune system;HP:0002715 PMID: 33513601 False 2 0;50;50 13.3 True ENSG00000177105 ENSG00000177105 HGNC:672 RHOH gene RHOH Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307 Abnormality of the immune system;HP:0002715 22850876;27574848;38775840 False 2 0;50;50 13.3 True ENSG00000168421 ENSG00000168421 HGNC:686 RIPK3 gene RIPK3 Expert Review Amber;Expert list;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related Abnormality of the immune system;HP:0002715 37083451 False 2 0;100;0 13.3 False ENSG00000129465 ENSG00000129465 HGNC:10021 RIPK3 gene RIPK3 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related;Recurrent HSV encephalitis Abnormality of the immune system;HP:0002715 PMID: 37083451 False 2 0;100;0 13.3 True ENSG00000129465 ENSG00000129465 HGNC:10021 RNASEL gene RNASEL Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Abnormality of the immune system;HP:0002715 PMID: 36538032 False 2 0;100;0 13.3 True ENSG00000135828 ENSG00000135828 HGNC:10050 RNASEL gene RNASEL Expert Review Amber;Expert list;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related Abnormality of the immune system;HP:0002715 36538032;9351818 False 2 0;100;0 13.3 True ENSG00000135828 ENSG00000135828 HGNC:10050 RNF31 gene RNF31 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 Abnormality of the immune system;HP:0002715 26008899;30936877 False 2 0;100;0 13.3 True ENSG00000092098 ENSG00000092098 HGNC:16031 RNF31 gene RNF31 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, MIM# 620632 Abnormality of the immune system;HP:0002715 26008899;30936877 False 2 0;100;0 13.3 True ENSG00000092098 ENSG00000092098 HGNC:16031 RPL18 gene RPL18 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 18, MIM# 618310 Abnormality of the immune system;HP:0002715 PMID: 28280134, 32075953 False 2 0;100;0 13.3 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL31 gene RPL31 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of the immune system;HP:0002715 25042156;25424902 False 2 0;100;0 13.3 True ENSG00000071082 ENSG00000071082 HGNC:10334 RPL8 gene RPL8 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia MONDO:0015253 Abnormality of the immune system;HP:0002715 PMID: 25424902, 34961992 False 2 0;100;0 13.3 True ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of the immune system;HP:0002715 29114930;20116044;31799629 False 2 0;100;0 13.3 True ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature;Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of the immune system;HP:0002715 32790018 False 2 0;100;0 13.3 True ENSG00000008988 ENSG00000008988 HGNC:10405 RPS28 gene RPS28 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Abnormality of the immune system;HP:0002715 PMID: 24942156 False 2 0;100;0 13.3 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13, MIM# 615909 Abnormality of the immune system;HP:0002715 24829207 False 2 0;100;0 13.3 True ENSG00000213741 ENSG00000213741 HGNC:10419 SCGN gene SCGN Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal ulcerative colitis, MONDO:0005101 Abnormality of the immune system;HP:0002715 31663849 False 2 0;100;0 13.3 True ENSG00000079689 ENSG00000079689 HGNC:16941 SH3KBP1 gene SH3KBP1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Immunodeficiency 61, MIM# 300310" Abnormality of the immune system;HP:0002715 29636373;21708930 False 2 0;50;50 13.3 True ENSG00000147010 ENSG00000147010 HGNC:13867 SLC19A1 gene SLC19A1 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency, SLC19A1-related MONDO:0015131 Abnormality of the immune system;HP:0002715 36517554,36745868 False 2 0;100;0 13.3 True ENSG00000173638 ENSG00000173638 HGNC:10937 SLC9A3 gene SLC9A3 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital 616868;Very Early Onset Inflammatory Bowel Disease Abnormality of the immune system;HP:0002715 26358773;33346580 False 2 0;100;0 13.3 True ENSG00000066230 ENSG00000066230 HGNC:11073 SPPL2A gene SPPL2A Literature;Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 86, MIM#619549;Susceptibility to mycobacteria and Salmonella Abnormality of the immune system;HP:0002715 30127434 False 2 50;50;0 13.3 True ENSG00000138600 ENSG00000138600 HGNC:30227 SRP19 gene SRP19 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP19 gene SRP19 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP68 gene SRP68 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534" Abnormality of the immune system;HP:0002715 32273475 False 2 0;100;0 13.3 True ENSG00000167881 ENSG00000167881 HGNC:11302 SRP72 gene SRP72 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, MIM# 614675 Abnormality of the immune system;HP:0002715 22541560;31254415 False 2 0;100;0 13.3 True ENSG00000174780 ENSG00000174780 HGNC:11303 SRPRA gene SRPRA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000182934 ENSG00000182934 HGNC:11307 SRPRA gene SRPRA Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Abnormality of the immune system;HP:0002715 PMID: 36223592 False 2 0;50;50 13.3 True ENSG00000182934 ENSG00000182934 HGNC:11307 TAPBP gene TAPBP Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type I, MIM# 604571;MHC class I deficiency 3, MIM# 620814 Abnormality of the immune system;HP:0002715 38866210;12149238 False 2 0;50;50 13.3 True ENSG00000231925 ENSG00000231925 HGNC:11566 TBX21 gene TBX21 Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 88, MIM# 619630;Susceptibility to mycobacterial disease Abnormality of the immune system;HP:0002715 PMID: 33296702;PMID: 34160550 False 2 0;100;0 13.3 True ENSG00000073861 ENSG00000073861 HGNC:11599 TCIRG1 gene TCIRG1 Expert Review Amber;Expert Review Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 Abnormality of the immune system;HP:0002715 24753205;35573728 False 2 0;100;0 13.3 True ENSG00000110719 ENSG00000110719 HGNC:11647 TERC gene TERC Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989;{Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000164362 ENSG00000164362 HGNC:11730 TFRC gene TFRC Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 46, MIM# 616740;T cells: normal number, poor proliferation;B cells: normal number, low memory B cells;recurrent infections, neutorpaenia;thrombocytopaenia" Abnormality of the immune system;HP:0002715 26642240 False 2 0;100;0 13.3 True ENSG00000072274 ENSG00000072274 HGNC:11763 TGFB1 gene TGFB1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213" Abnormality of the immune system;HP:0002715 29483653 False 2 0;100;0 13.3 True ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB1 gene TGFB1 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213 Abnormality of the immune system;HP:0002715 29483653 False 2 0;100;0 13.3 True ENSG00000105329 ENSG00000105329 HGNC:11766 TINF2 gene TINF2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Abnormality of the immune system;HP:0002715 False 2 0;100;0 13.3 True ENSG00000092330 ENSG00000092330 HGNC:11824 TNFRSF13C gene TNFRSF13C Expert Review Amber;Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4, MIM# 613494 Abnormality of the immune system;HP:0002715 19666484;26613719 False 2 0;100;0 13.3 True ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF13C gene TNFRSF13C Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 4, MIM# 613494 Abnormality of the immune system;HP:0002715 19666484;26613719 False 2 0;100;0 13.3 True ENSG00000159958 ENSG00000159958 HGNC:17755 TP53 gene TP53 Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bone marrow failure syndrome 5, MIM# 618165" Abnormality of the immune system;HP:0002715 30146126;24013501;23770245 False 2 0;100;0 13.3 True Other ENSG00000141510 ENSG00000141510 HGNC:11998 TRAC gene TRAC Expert Review Amber;Expert list Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Abnormality of the immune system;HP:0002715 21206088 False 2 50;50;0 13.3 True ENSG00000229164 ENSG00000277734 HGNC:12029 TRAF3IP2 gene TRAF3IP2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 8, MIM# 615527 Abnormality of the immune system;HP:0002715 24120361;31292894;20660351 False 2 0;100;0 13.3 True ENSG00000056972 ENSG00000056972 HGNC:1343 TRAF3IP2 gene TRAF3IP2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Candidiasis, familial, 8, MIM# 615527 Abnormality of the immune system;HP:0002715 24120361;31292894;20660351 False 2 0;100;0 13.3 True ENSG00000056972 ENSG00000056972 HGNC:1343 TYMS gene TYMS Expert Review Amber;Literature Immunological disorders_SuperPanel Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, digenic, MIM#620040 Abnormality of the immune system;HP:0002715 35931051 False 2 0;50;50 13.3 True ENSG00000176890 ENSG00000176890 HGNC:12441 UNC93B1 gene UNC93B1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Abnormality of the immune system;HP:0002715 16973841;29768176 False 2 0;100;0 13.3 True ENSG00000110057 ENSG00000110057 HGNC:13481 UNC93B1 gene UNC93B1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1 Abnormality of the immune system;HP:0002715 16973841;29768176 False 2 0;100;0 13.3 True ENSG00000110057 ENSG00000110057 HGNC:13481 WIPF1 gene WIPF1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2, MIM# 614493 Abnormality of the immune system;HP:0002715 17312144;17890224 False 2 0;100;0 13.3 True ENSG00000115935 ENSG00000115935 HGNC:12736 XRCC2 gene XRCC2 Expert Review Amber;Victorian Clinical Genetics Services Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U, MIM# 617247 Abnormality of the immune system;HP:0002715 27208205;22232082;11118202 False 2 0;100;0 13.3 True ENSG00000196584 ENSG00000196584 HGNC:12829 ZAP70 gene ZAP70 Expert Review Amber;Other Immunological disorders_SuperPanel Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2;inflammatory colitis Abnormality of the immune system;HP:0002715 26783323;32819795;32633164 False 2 0;100;0 13.3 True ENSG00000115085 ENSG00000115085 HGNC:12858