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 ACP5 gene ACP5 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal SLE, thrombocytopenia and autoimmune haemolytic anaemia;Spondyloenchondrodysplasia with immune dysregulation, MIM#607944;Possibly recurrent bacterial and viral infections;Short stature 21217755;26346816;26951490;26789720 False 3 0;0;0 0.4 False ENSG00000102575 ENSG00000102575 HGNC:124 ACTB gene ACTB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000075624 ENSG00000075624 HGNC:132 ADA gene ADA Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAM17 gene ADAM17 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000151694 ENSG00000151694 HGNC:195 ADAR gene ADAR Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM#615010 False 3 0;0;0 0.4 False ENSG00000160710 ENSG00000160710 HGNC:225 AICDA gene AICDA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000111732 ENSG00000111732 HGNC:13203 AIRE gene AIRE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 False 3 0;0;0 0.4 False ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000004455 ENSG00000004455 HGNC:362 AP1S3 gene AP1S3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000152056 ENSG00000152056 HGNC:18971 AP3B1 gene AP3B1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000132842 ENSG00000132842 HGNC:566 APOL1 gene APOL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000100342 ENSG00000100342 HGNC:618 ARPC1B gene ARPC1B Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 28368018 False 3 0;0;0 0.4 False ENSG00000130429 ENSG00000130429 HGNC:704 ATM gene ATM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP6AP1 gene ATP6AP1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hepatopathy;Leukopenia;Immunodeficiency 47, MIM# 300972;Low copper 27231034 False 3 0;0;0 0.4 False ENSG00000071553 ENSG00000071553 HGNC:868 B2M gene B2M Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000166710 ENSG00000166710 HGNC:914 BACH2 gene BACH2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease;Immunodeficiency 60, MIM#618394;recurrent sinopulmonary infections 28530713 False 3 0;0;0 0.4 False ENSG00000112182 ENSG00000112182 HGNC:14078 BCL10 gene BCL10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000142867 ENSG00000142867 HGNC:989 BCL11B gene BCL11B Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM#618092;Immunodeficiency 49, MIM#617237 29985992;27959755 False 3 0;0;0 0.4 False ENSG00000127152 ENSG00000127152 HGNC:13222 BLM gene BLM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000197299 ENSG00000197299 HGNC:1058 BLNK gene BLNK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000095585 ENSG00000095585 HGNC:14211 BLOC1S6 gene BLOC1S6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000104164 ENSG00000104164 HGNC:8549 BTK gene BTK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000010671 ENSG00000010671 HGNC:1133 C17orf62 gene C17orf62 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 30312704;30361506;28351984 False 3 0;0;0 0.4 False ENSG00000178927 ENSG00000178927 HGNC:28672 C1QA gene C1QA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000159189 ENSG00000159189 HGNC:1245 C1R gene C1R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000159403 ENSG00000159403 HGNC:1246 C1S gene C1S Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000182326 ENSG00000182326 HGNC:1247 C2 gene C2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000166278 ENSG00000166278 HGNC:1248 C3 gene C3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000125730 ENSG00000125730 HGNC:1318 C4A gene C4A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000244731 ENSG00000244731 HGNC:1323 C4B gene C4B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000224389 ENSG00000224389 HGNC:1324 C5 gene C5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000106804 ENSG00000106804 HGNC:1331 C6 gene C6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000112936 ENSG00000112936 HGNC:1346 C8A gene C8A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000157131 ENSG00000157131 HGNC:1352 C8B gene C8B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000021852 ENSG00000021852 HGNC:1353 C8G gene C8G Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000176919 ENSG00000176919 HGNC:1354 C9 gene C9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000113600 ENSG00000113600 HGNC:1358 CARD11 gene CARD11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM#617638;Immunodeficiency 11A, autosomal recessive, MIM#615206 23561803;12818158;28628108;23374270 False 3 0;0;0 0.4 False ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000141527 ENSG00000141527 HGNC:16446 CARD9 gene CARD9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000187796 ENSG00000187796 HGNC:16391 CARMIL2 gene CARMIL2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 58, MIM#618131 29479355;27896283;28112205 False 3 0;0;0 0.4 False ENSG00000159753 ENSG00000159753 HGNC:27089 CASP10 gene CASP10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000003400 ENSG00000003400 HGNC:1500 CASP8 gene CASP8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000064012 ENSG00000064012 HGNC:1509 CCBE1 gene CCBE1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000183287 ENSG00000183287 HGNC:29426 CD19 gene CD19 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000177455 ENSG00000177455 HGNC:1633 CD27 gene CD27 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 2, MIM#615122 22197273;22801960 False 3 0;0;0 0.4 False ENSG00000139193 ENSG00000139193 HGNC:11922 CD3D gene CD3D Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000198851 ENSG00000198851 HGNC:1674 CD3G gene CD3G Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD40 gene CD40 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3, MIM#606843 12915844;11675497 False 3 0;0;0 0.4 False ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000102245 ENSG00000102245 HGNC:11935 CD46 gene CD46 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD55 gene CD55 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM#226300 28657829;28657861 False 3 0;0;0 0.4 False ENSG00000196352 ENSG00000196352 HGNC:2665 CD59 gene CD59 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000085063 ENSG00000085063 HGNC:1689 CD70 gene CD70 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 3, MIM#618261 28011864;28011863 False 3 0;0;0 0.4 False ENSG00000125726 ENSG00000125726 HGNC:11937 CD79A gene CD79A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000007312 ENSG00000007312 HGNC:1699 CD81 gene CD81 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000110651 ENSG00000110651 HGNC:1701 CD8A gene CD8A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000153563 ENSG00000153563 HGNC:1706 CDCA7 gene CDCA7 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#616910 26216346 False 3 0;0;0 0.4 False ENSG00000144354 ENSG00000144354 HGNC:14628 CEBPE gene CEBPE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000092067 ENSG00000092067 HGNC:1836 CFB gene CFB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFD gene CFD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFP gene CFP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000126759 ENSG00000126759 HGNC:8864 CHD7 gene CHD7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000171316 ENSG00000171316 HGNC:20626 CIB1 gene CIB1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformis 3618267;HPV infections and cancer of the skin 30068544 False 3 0;0;0 0.4 False ENSG00000185043 ENSG00000185043 HGNC:16920 CIITA gene CIITA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000179583 ENSG00000179583 HGNC:7067 CLPB gene CLPB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000162129 ENSG00000162129 HGNC:30664 COL7A1 gene COL7A1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000114270 ENSG00000114270 HGNC:2214 COPA gene COPA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000122218 ENSG00000122218 HGNC:2230 CORO1A gene CORO1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000102879 ENSG00000102879 HGNC:2252 CR2 gene CR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000117322 ENSG00000117322 HGNC:2336 CSF2RA gene CSF2RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000198223 ENSG00000198223 HGNC:2435 CSF3R gene CSF3R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTLA4 gene CTLA4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000163599 ENSG00000163599 HGNC:2505 CTPS1 gene CTPS1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal EBV lymphoproliferation;Immunodeficiency 24, MIM#615897;B-cell non-Hodgkin lymphoma;Recurrent/chronic bacterial and viral infections (EBV, VZV) 24870241 False 3 0;0;0 0.4 False ENSG00000171793 ENSG00000171793 HGNC:2519 CTSC gene CTSC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000109861 ENSG00000109861 HGNC:2528 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000121966 ENSG00000121966 HGNC:2561 CYBA gene CYBA Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000165168 ENSG00000165168 HGNC:2578 DBR1 gene DBR1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Viral infections of the brainstem 29474921 False 3 0;0;0 0.4 False ENSG00000138231 ENSG00000138231 HGNC:15594 DCLRE1B gene DCLRE1B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000118655 ENSG00000118655 HGNC:17641 DCLRE1C gene DCLRE1C Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000152457 ENSG00000152457 HGNC:17642 DKC1 gene DKC1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 3, MIM#617052;Exocrine pancreatic insufficiency;Shwachman-Diamond syndrome;Short stature;Pancytopaenia 27346687;29700810;28062395 False 3 0;0;0 0.4 False ENSG00000168724 ENSG00000168724 HGNC:27030 DNASE1L3 gene DNASE1L3 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Systemic lupus erythematosus 16, MIM#614420 30008451;22019780 False 3 0;0;0 0.4 False ENSG00000163687 ENSG00000163687 HGNC:2959 DNASE2 gene DNASE2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal liver fibrosis;HLH;Auto-inflammatory disorder;splenomegaly;glomerulonephritis;arthritis 31775019;29259162 False 3 0;0;0 0.4 False ENSG00000105612 ENSG00000105612 HGNC:2960 DNMT3B gene DNMT3B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK8 gene DOCK8 Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000107099 ENSG00000107099 HGNC:19191 EFL1 gene EFL1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2, MIM#617941 28331068;31151987 False 3 0;0;0 0.4 False ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000197561 ENSG00000197561 HGNC:3309 EPCAM gene EPCAM Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000119888 ENSG00000119888 HGNC:11529 EPG5 gene EPG5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000152223 ENSG00000152223 HGNC:29331 ERCC2 gene ERCC2 Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC6L2 gene ERCC6L2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, MIM#615715 27185855;24507776 False 3 0;0;0 0.4 False ENSG00000182150 ENSG00000182150 HGNC:26922 EXTL3 gene EXTL3 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425 28132690;28148688 False 3 0;0;0 0.4 False ENSG00000012232 ENSG00000012232 HGNC:3518 F12 gene F12 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 0;0;0 0.4 False ENSG00000131187 ENSG00000131187 HGNC:3530 FADD gene FADD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000168040 ENSG00000168040 HGNC:3573 FAS gene FAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000026103 ENSG00000026103 HGNC:11920 FASLG gene FASLG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000117560 ENSG00000117560 HGNC:11936 FAT4 gene FAT4 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Low/variable T and B cells;Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features;Hennekam lymphangiectasia-lymphedema syndrome 2, MIM#616006 False 3 0;0;0 0.4 False ENSG00000196159 ENSG00000196159 HGNC:23109 FCGR3A gene FCGR3A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000203747 ENSG00000203747 HGNC:3619 FCHO1 gene FCHO1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Increased activation-induced T-cell death;B cells: normal number;Combined immunodeficiency;Defective clathrin-mediated endocytosis;lymphoproliferation;Recurrent infections (viral, mycobacteria, bacterial, fungal);Failure to thrive;T cells: low, poor proliferation 30822429;32098969 False 3 0;0;0 0.4 False ENSG00000130475 ENSG00000130475 HGNC:29002 FCN3 gene FCN3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000142748 ENSG00000142748 HGNC:3625 FERMT1 gene FERMT1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000101311 ENSG00000101311 HGNC:15889 FERMT3 gene FERMT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000149781 ENSG00000149781 HGNC:23151 FOXN1 gene FOXN1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 31447097;10206641;18339010 False 3 0;0;0 0.4 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000049768 ENSG00000049768 HGNC:6106 FPR1 gene FPR1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000171051 ENSG00000171051 HGNC:3826 G6PC3 gene G6PC3 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hemolytic anemia, G6PD deficient (favism), MIM#300908 False 3 0;0;0 0.4 False ENSG00000160211 ENSG00000160211 HGNC:4057 GATA2 gene GATA2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000162676 ENSG00000162676 HGNC:4237 GINS1 gene GINS1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 55, MIM#617827 28414293 False 3 0;0;0 0.4 False ENSG00000101003 ENSG00000101003 HGNC:28980 GTF2H5 gene GTF2H5 Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000272047 ENSG00000272047 HGNC:21157 GUCY2C gene GUCY2C Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000070019 ENSG00000070019 HGNC:4688 HAVCR2 gene HAVCR2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal T-cell lymphoma, subcutaneous panniculitis-like, MIM#618398 30792187;30374066 False 3 0;0;0 0.4 False ENSG00000135077 ENSG00000135077 HGNC:18437 HAX1 gene HAX1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000143575 ENSG00000143575 HGNC:16915 HELLS gene HELLS Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 26216346 False 3 0;0;0 0.4 False ENSG00000119969 ENSG00000119969 HGNC:4861 HPS1 gene HPS1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPS4 gene HPS4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000100099 ENSG00000100099 HGNC:15844 HPS6 gene HPS6 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000166189 ENSG00000166189 HGNC:18817 HTRA2 gene HTRA2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, MIM#617248 False 3 0;0;0 0.4 False ENSG00000115317 ENSG00000115317 HGNC:14348 ICOS gene ICOS Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000163600 ENSG00000163600 HGNC:5351 IFIH1 gene IFIH1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhinovirus and other RNA viruses;Severe viral respiratory infections 29018476;28716935 False 3 0;0;0 0.4 False ENSG00000115267 ENSG00000115267 HGNC:18873 IFNGR1 gene IFNGR1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000159128 ENSG00000159128 HGNC:5440 IGHM gene IGHM Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Agammaglobulinemia 1, MIM#601495 8890099;12370281 False 3 0;0;0 0.4 False ENSG00000211899 ENSG00000211899 HGNC:5541 IGLL1 gene IGLL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000128322 ENSG00000128322 HGNC:5870 IKBKB gene IKBKB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 15A, autosomal dominant, MIM#618204;Immunodeficiency 15B, autosomal recessive, MIM#615592 25216719;24369075;30337470 False 3 0;0;0 0.4 False Other ENSG00000104365 ENSG00000104365 HGNC:5960 IKBKG gene IKBKG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Decreased pro-B cells;Increased risk of ALL, autoimmunity;Immunodeficiency, common variable, 13, MIM#616873;Recurrent sinopulmonary infections;B cells and Ig levels reduce with age;Low IgG, IgA, IgM, low or normal B cells 21548011;26981933 False 3 0;0;0 0.4 False ENSG00000185811 ENSG00000185811 HGNC:13176 IL10 gene IL10 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL12B gene IL12B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000096996 ENSG00000096996 HGNC:5971 IL17F gene IL17F Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000112116 ENSG00000112116 HGNC:16404 IL17RA gene IL17RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000177663 ENSG00000177663 HGNC:5985 IL17RC gene IL17RC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000163702 ENSG00000163702 HGNC:18358 IL1RN gene IL1RN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL21 gene IL21 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000138684 ENSG00000138684 HGNC:6005 IL21R gene IL21R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000103522 ENSG00000103522 HGNC:6006 IL2RA gene IL2RA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections;Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM#618495 31040185;31040184 False 3 0;0;0 0.4 False ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RG gene IL2RG Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000147168 ENSG00000147168 HGNC:6010 IL36RN gene IL36RN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000136695 ENSG00000136695 HGNC:15561 IL6ST gene IL6ST Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgE syndrome, autosomal dominant;Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response;Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#618523 31914175;12370259;16041381;32207811;30309848;28747427 False 3 0;0;0 0.4 False ENSG00000134352 ENSG00000134352 HGNC:6021 IL7R gene IL7R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000168685 ENSG00000168685 HGNC:6024 INO80 gene INO80 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000128908 ENSG00000128908 HGNC:26956 IRAK4 gene IRAK4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000198001 ENSG00000198001 HGNC:17967 IRF7 gene IRF7 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000185507 ENSG00000185507 HGNC:6122 IRF8 gene IRF8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000140968 ENSG00000140968 HGNC:5358 ISG15 gene ISG15 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000187608 ENSG00000187608 HGNC:4053 ITCH gene ITCH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGAM gene ITGAM Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000169896 ENSG00000169896 HGNC:6149 ITGB2 gene ITGB2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000160255 ENSG00000160255 HGNC:6155 ITK gene ITK Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1, MIM#613011;EBV associated B call lymphoproliferation, lymphoma 21109689;19425169;22289921 False 3 0;0;0 0.4 False ENSG00000113263 ENSG00000113263 HGNC:6171 JAGN1 gene JAGN1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000105639 ENSG00000105639 HGNC:6193 LAMTOR2 gene LAMTOR2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000116586 ENSG00000116586 HGNC:29796 LAT gene LAT Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, MIM#617514 10204488;27522155;27242165 False 3 0;0;0 0.4 False ENSG00000213658 ENSG00000213658 HGNC:18874 LCK gene LCK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000182866 ENSG00000182866 HGNC:6524 LIG1 gene LIG1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Macrocytosis;Growth retardation;Hypogammaglobulinaemia;Recurrent bacterial and viral infections;Sun sensitivity, radiation sensitivity;Lymphopaenia 30395541 False 3 0;0;0 0.4 False ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000174405 ENSG00000174405 HGNC:6601 LPIN2 gene LPIN2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRBA gene LRBA Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Recurrent infections;Inflammatory bowel disease;Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700;Autoimmunity;EBV infections 25468195;26206937;22608502;22721650 False 3 0;0;0 0.4 False ENSG00000198589 ENSG00000198589 HGNC:1742 LYST gene LYST Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAGT1 gene MAGT1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia 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 21796205;24550228;31036665;25504528;25956530 False 3 0;0;0 0.4 False ENSG00000102158 ENSG00000102158 HGNC:28880 MALT1 gene MALT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000172175 ENSG00000172175 HGNC:6819 MAP3K14 gene MAP3K14 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000006062 ENSG00000006062 HGNC:6853 MASP2 gene MASP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000009724 ENSG00000009724 HGNC:6902 MCM4 gene MCM4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000104738 ENSG00000104738 HGNC:6947 MEFV gene MEFV Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000103313 ENSG00000103313 HGNC:6998 MOGS gene MOGS Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bacterial and viral infections;Severe hypogammaglobulinaemia;Severe neurologic disease;Congenital disorder of glycosylation, type IIb, MIM#606056 24716661;29235540;10788335 False 3 0;0;0 0.4 False ENSG00000115275 ENSG00000115275 HGNC:24862 MS4A1 gene MS4A1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000156738 ENSG00000156738 HGNC:7315 MSN gene MSN Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 50, MIM#300988 27405666 False 3 0;0;0 0.4 False ENSG00000147065 ENSG00000147065 HGNC:7373 MTHFD1 gene MTHFD1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000100714 ENSG00000100714 HGNC:7432 MVK gene MVK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYD88 gene MYD88 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYSM1 gene MYSM1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, MIM#618116 26220525;24288411;28115216 False 3 0;0;0 0.4 False ENSG00000162601 ENSG00000162601 HGNC:29401 NBN gene NBN Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260 False 3 0;0;0 0.4 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCF1 gene NCF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000100365 ENSG00000100365 HGNC:7662 NFAT5 gene NFAT5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000102908 ENSG00000102908 HGNC:7774 NFE2L2 gene NFE2L2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#617744;Growth retardation;White matter cerebral lesions;Developmental delay, borderline ID;Recurrent respiratory and skin infection 29018201 False 3 100;0;0 0.4 False ENSG00000116044 ENSG00000116044 HGNC:7782 NFKB1 gene NFKB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000077150 ENSG00000077150 HGNC:7795 NFKBIA gene NFKBIA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000100906 ENSG00000100906 HGNC:7797 NFKBID gene NFKBID Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000167604 ENSG00000167604 HGNC:15671 NHEJ1 gene NHEJ1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000187736 ENSG00000187736 HGNC:25737 NHP2 gene NHP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000145912 ENSG00000145912 HGNC:14377 NLRC4 gene NLRC4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP1 gene NLRP1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammation with arthritis and dyskeratosis, MIM#617388;Recurrent respiratory papillomatosis;Palmoplantar carcinoma, multiple self-healing, 615225 27662089;27965258;31484767 False 3 0;0;0 0.4 False Other ENSG00000091592 ENSG00000091592 HGNC:14374 NLRP12 gene NLRP12 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000142405 ENSG00000142405 HGNC:22938 NLRP3 gene NLRP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000167207 ENSG00000167207 HGNC:5331 OAS1 gene OAS1 Expert Review Green;Literature Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted infantile-onset pulmonary alveolar proteinosis;hypogammaglobulinemia 29455859 False 3 0;0;0 0.4 False ENSG00000089127 ENSG00000089127 HGNC:8086 ORAI1 gene ORAI1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000182500 ENSG00000276045 HGNC:25896 OTULIN gene OTULIN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000154124 ENSG00000154124 HGNC:25118 PARN gene PARN Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000140694 ENSG00000140694 HGNC:8609 PAX1 gene PAX1 Expert Review Green;Literature Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2, MIM#615560;dysmorphism;ear abnormalities;Syndromic SCID 32111619 False 3 0;0;0 0.4 False ENSG00000125813 ENSG00000125813 HGNC:8615 PEPD gene PEPD Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency, MIM#170100 False 3 0;0;0 0.4 False ENSG00000124299 ENSG00000124299 HGNC:8840 PGM3 gene PGM3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000013375 ENSG00000013375 HGNC:8907 PIK3CD gene PIK3CD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 14, MIM#615513 30018075;24165795;24136356 False 3 0;0;0 0.4 False Other ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000145675 ENSG00000145675 HGNC:8979 PLCG2 gene PLCG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000197943 ENSG00000197943 HGNC:9066 PMS2 gene PMS2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome, MIM#276300 False 3 0;0;0 0.4 False ENSG00000122512 ENSG00000122512 HGNC:9122 PNP gene PNP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000198805 ENSG00000198805 HGNC:7892 POLA1 gene POLA1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220 27019227 False 3 0;0;0 0.4 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLE gene POLE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000177084 ENSG00000177084 HGNC:9177 PRF1 gene PRF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRKCD gene PRKCD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000163932 ENSG00000163932 HGNC:9399 PSMA3 gene PSMA3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB4 gene PSMB4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB8 gene PSMB8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000240065 ENSG00000240065 HGNC:9546 PSTPIP1 gene PSTPIP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000140368 ENSG00000140368 HGNC:9580 PTEN gene PTEN Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPRC gene PTPRC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000081237 ENSG00000081237 HGNC:9666 RAB27A gene RAB27A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAC2 gene RAC2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neutropaenia;lymphoproliferation;SCID;Reduced Ab responses following vaccination;recurrent bacterial and viral infections;selective IgA deficiency;deafness;reticular dysgenesis 30654050;32198141;30723080;31071452;31382036;31919089 False 3 0;0;0 0.4 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAG1 gene RAG1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000175097 ENSG00000175097 HGNC:9832 RASGRP1 gene RASGRP1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 64, MIM#618534 27776107;28822832;17675473;29282224;29155103 False 3 0;0;0 0.4 False ENSG00000172575 ENSG00000172575 HGNC:9878 RBCK1 gene RBCK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000125826 ENSG00000125826 HGNC:15864 RFX5 gene RFX5 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000143390 ENSG00000143390 HGNC:9986 RFXANK gene RFXANK Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000133111 ENSG00000133111 HGNC:9988 RHOH gene RHOH Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000168421 ENSG00000168421 HGNC:686 RIPK1 gene RIPK1 Expert Review Green;Literature Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 57, MIM#618108 30026316 False 3 0;0;0 0.4 False ENSG00000137275 ENSG00000137275 HGNC:10019 RMRP gene RMRP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, MIM#610333 False 3 0;0;0 0.4 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM#610181 False 3 0;0;0 0.4 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, MIM#610329 False 3 0;0;0 0.4 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNF168 gene RNF168 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNF31 gene RNF31 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000092098 ENSG00000092098 HGNC:16031 RORC gene RORC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000143365 ENSG00000143365 HGNC:10260 RPSA gene RPSA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Asplenia, isolated congenital, MIM#271400 23579497 False 3 0;0;0 0.4 False ENSG00000168028 ENSG00000168028 HGNC:6502 RTEL1 gene RTEL1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000258366 ENSG00000258366 HGNC:15888 SAMD9 gene SAMD9 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000205413 ENSG00000205413 HGNC:1348 SAMHD1 gene SAMHD1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM#612952 False 3 0;0;0 0.4 False ENSG00000101347 ENSG00000101347 HGNC:15925 SBDS gene SBDS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000126524 ENSG00000126524 HGNC:19440 SEC61A1 gene SEC61A1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe recurrent respiratory tract infections;Hypogammaglobulinaemia;Hyperuricemic nephropathy, familial juvenile, 4, MIM#617056 28782633;27392076 False 3 0;0;0 0.4 False ENSG00000058262 ENSG00000058262 HGNC:18276 SEMA3E gene SEMA3E Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000170381 ENSG00000170381 HGNC:10727 SERPING1 gene SERPING1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 0;0;0 0.4 False ENSG00000149131 ENSG00000149131 HGNC:1228 SH2D1A gene SH2D1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000183918 ENSG00000183918 HGNC:10820 SH3BP2 gene SH3BP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000087266 ENSG00000087266 HGNC:10825 SKIV2L gene SKIV2L Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Facial dysmorphic features;Platelet abnormalities;IUGR;Early-onset intractable diarrhoea;Trichohepatoenteric syndrome 2, MIM#614602;Wooly hair;Respiratory infections;Liver cirrhosis 22444670 False 3 0;0;0 0.4 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC29A3 gene SLC29A3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC35C1 gene SLC35C1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC37A4 gene SLC37A4 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A7 gene SLC39A7 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal thrombocytopaenia;Antibody deficiency;blistering dermatosis;early onset infections;failure to thrive 30718914 False 3 0;0;0 0.4 False ENSG00000112473 ENSG00000112473 HGNC:4927 SLC46A1 gene SLC46A1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC7A7 gene SLC7A7 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM#222700;Hyper-inflammatory response of macrophages;Bleeding tendency;Alverolar proteinosis;Normal NK cell function;Lysinuric protein intolerance False 3 0;0;0 0.4 False ENSG00000155465 ENSG00000155465 HGNC:11065 SMARCAL1 gene SMARCAL1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCD2 gene SMARCD2 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental abnormalities in some;Neutropaenia;Specific granule deficiency 2, MIM#617475;Myelodysplasia 28369034;28369036 False 3 0;0;0 0.4 False ENSG00000108604 ENSG00000108604 HGNC:11107 SP110 gene SP110 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPINK5 gene SPINK5 Australian Genomics Health Alliance Immunology Flagship;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000133710 ENSG00000133710 HGNC:15464 SRP54 gene SRP54 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, severe congenital, 8, autosomal dominant, MIM#618752 28972538;29914977 False 3 0;0;0 0.4 False ENSG00000100883 ENSG00000100883 HGNC:11301 STAT1 gene STAT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Predisposition to Mucocutaneous Candidiasis;Immunodeficiency 31C, autosomal dominant, MIM#614162 23534974;21714643 False 3 0;0;0 0.4 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000170581 ENSG00000170581 HGNC:11363 STAT3 gene STAT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity with immunodeficiency, MIM#245590 29844444 False 3 0;0;0 0.4 False Other ENSG00000173757 ENSG00000173757 HGNC:11367 STIM1 gene STIM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000167323 ENSG00000167323 HGNC:11386 STK4 gene STK4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000101109 ENSG00000101109 HGNC:11408 STX11 gene STX11 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000076944 ENSG00000076944 HGNC:11445 TAP1 gene TAP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000168394 ENSG00000168394 HGNC:43 TAP2 gene TAP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000204267 ENSG00000204267 HGNC:44 TAPBP gene TAPBP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000231925 ENSG00000231925 HGNC:11566 TAZ gene TAZ Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBK1 gene TBK1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000183735 ENSG00000183735 HGNC:11584 TBX1 gene TBX1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000184058 ENSG00000184058 HGNC:11592 TCF3 gene TCF3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000071564 ENSG00000071564 HGNC:11633 TCN2 gene TCN2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000164362 ENSG00000164362 HGNC:11730 TGFBR1 gene TGFBR1 Expert Review Green;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000106799 ENSG00000106799 HGNC:11772 THBD gene THBD Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000178726 ENSG00000178726 HGNC:11784 TICAM1 gene TICAM1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000127666 ENSG00000127666 HGNC:18348 TINF2 gene TINF2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000092330 ENSG00000092330 HGNC:11824 TLR3 gene TLR3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000164342 ENSG00000164342 HGNC:11849 TMC6 gene TMC6 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000141524 ENSG00000141524 HGNC:18021 TMC8 gene TMC8 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMEM173 gene TMEM173 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy, infantile-onset, MIM#615934 25029335;25401470 False 3 0;0;0 0.4 False Other ENSG00000184584 ENSG00000184584 HGNC:27962 TNFAIP3 gene TNFAIP3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF13B gene TNFRSF13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF13C gene TNFRSF13C Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF1A gene TNFRSF1A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, familial, MIM#142680 10199409 False 3 0;0;0 0.4 False ENSG00000067182 ENSG00000067182 HGNC:11916 TNFRSF4 gene TNFRSF4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000186827 ENSG00000186827 HGNC:11918 TNFRSF9 gene TNFRSF9 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal EBV lymphoproliferation;Chronic active EBV infection;B-cell lymphoma 30872117 False 3 0;0;0 0.4 False ENSG00000049249 ENSG00000049249 HGNC:11924 TNFSF12 gene TNFSF12 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000239697 ENSG00000239697 HGNC:11927 TOP2B gene TOP2B Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facial dysmorphism;Antibody deficiency;Recurrent infections;Limb anomalies 31409799 False 3 0;0;0 0.4 False ENSG00000077097 ENSG00000077097 HGNC:11990 TPP1 gene TPP1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000166340 ENSG00000166340 HGNC:2073 TPP2 gene TPP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000134900 ENSG00000134900 HGNC:12016 TRAC gene TRAC Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 21206088 False 3 0;0;0 0.4 False ENSG00000229164 ENSG00000277734 HGNC:12029 TRAF3 gene TRAF3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000131323 ENSG00000131323 HGNC:12033 TRAF3IP2 gene TRAF3IP2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000056972 ENSG00000056972 HGNC:1343 TREX1 gene TREX1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive225750;{Systemic lupus erythematosus, susceptibility to}152700 False 3 0;0;0 0.4 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM22 gene TRIM22 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 26836588 False 3 0;0;0 0.4 False ENSG00000132274 ENSG00000132274 HGNC:16379 TRNT1 gene TRNT1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000072756 ENSG00000072756 HGNC:17341 TTC37 gene TTC37 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Facial dysmorphic features;Platelet abnormalities;IUGR;Respiratory infections;Trichohepatoenteric syndrome 1, MIM#222470;Liver cirrhosis;Wooly hair:Early-onset intractable diarrhoea 21120949;20176027 False 3 0;0;0 0.4 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome, 243150 30553809;28936210 False 3 0;0;0 0.4 False ENSG00000068724 ENSG00000068724 HGNC:19750 TYK2 gene TYK2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000105397 ENSG00000105397 HGNC:12440 UNC13D gene UNC13D Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000092929 ENSG00000092929 HGNC:23147 UNC93B1 gene UNC93B1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000110057 ENSG00000110057 HGNC:13481 UNG gene UNG Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000076248 ENSG00000076248 HGNC:12572 USB1 gene USB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia (OMIM #604173) 25044170;27612988 False 3 0;0;0 0.4 False ENSG00000103005 ENSG00000103005 HGNC:25792 USP18 gene USP18 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2, MIM#617397 27325888;31940699 False 3 0;0;0 0.4 False ENSG00000184979 ENSG00000184979 HGNC:12616 VPS13B gene VPS13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS45 gene VPS45 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000015285 ENSG00000015285 HGNC:12731 WDR1 gene WDR1 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Poor wound healing;Neutropaenia;Severe stomatitis;Neutrophil nuclei herniate 29751004;27557945;27994071 False 3 0;0;0 0.4 False ENSG00000071127 ENSG00000071127 HGNC:12754 WIPF1 gene WIPF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000115935 ENSG00000115935 HGNC:12736 XIAP gene XIAP Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000101966 ENSG00000101966 HGNC:592 ZAP70 gene ZAP70 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006;Immunodeficiency 48, MIM# 269840 False 3 0;0;0 0.4 False Other ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB24 gene ZBTB24 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders Unknown False 3 0;0;0 0.4 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZNF341 gene ZNF341 Expert list;Expert Review Green Immunological disorders_SuperPanel_PanelAppAustralia Immunological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#618282;Mild facial dysmorphism;Recurrent respiratory infections, lung abscesses and pneumothoraces;Early onset eczema;Hyperextensible joints, bone fractures, retention of primary teeth;Recurrent bacterial skin infections, abscesses 29907691;29907690 False 3 0;0;0 0.4 False ENSG00000131061 ENSG00000131061 HGNC:15992