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 ANGPT1 gene ANGPT1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angioedema, hereditary, 5, OMIM:619361 28601681;30689269 False 2 0;100;0 9.105 False ENSG00000154188 ENSG00000154188 HGNC:484 AP1S3 gene AP1S3 Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Pustular psoriasis, 616106;Pustular psoriasis;Autoinflammatory Disorders 32086639;24791904;32048120 False 2 0;100;0 9.105 False ENSG00000152056 ENSG00000152056 HGNC:18971 AP3D1 gene AP3D1 Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;Literature;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay;Diseases of Immune Dysregulation;Hermansky-Pudlak syndrome with neutropenia;Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay;albinism;HSP10;seizures;neutropenia;Immunodeficient HPS;neuordevelopmental delay;Hermansky-Pudlak syndrome;?Hermansky-Pudlak syndrome 10, 617050 32086639;26744459;30472485;32048120 False 2 0;33;67 9.105 False ENSG00000065000 ENSG00000065000 HGNC:568 ATAD3A gene ATAD3A Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental delay;Hypotonia;Dystonia;Systemic sclerosis;Autoimmunity;Contractures;Basal ganglia calcifications;Interferonopathy 34387651 False 2 100;0;0 9.105 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATP6AP2 gene ATP6AP2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIr, OMIM:301045;congenital disorder of glycosylation, type IIr, MONDO:0026765;congenital disorder of glycosylation, type IIr, X-linked recessive 29127204;38075676;41131679 False 2 0;100;0 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000182220 ENSG00000182220 HGNC:18305 BCL11B gene BCL11B Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Immunodeficiency 49, 617237;leaky SCID;Congenital abnormalities, neonatal teeth, dysmorphic facies, absent corpus callosum, neurocognitive deficits;Immunodeficiencies affecting cellular and humoral immunity;Combined immunodeficiencies with associated or syndromic features 27959755;32086639;29296816;32048120 False 2 50;50;0 9.105 False ENSG00000127152 ENSG00000127152 HGNC:13222 BIRC3 gene BIRC3 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal inborn error of immunity, MONDO:0003778;Crohn disease, MONDO:0005011 42335979 False 2 100;0;0 9.105 False ENSG00000023445 ENSG00000023445 HGNC:591 BRF2 gene BRF2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042 40229899;40781771 False 2 0;100;0 9.105 False ENSG00000104221 ENSG00000104221 HGNC:17298 CARD8 gene CARD8 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Inflammatory bowel disease (Crohn disease) 30, OMIM:619079 29408806;37724393 False 2 0;100;0 9.105 False ENSG00000105483 ENSG00000105483 HGNC:17057 CASP10 gene CASP10 ESID Registry 20171117;Expert Review Amber;GOSH PID v.8.0;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type II, OMIM:603909;autoimmune lymphoproliferative syndrome type 2A, MONDO:0011383 38704374;25663566;16446975;16611303;10412980;21447005;27378136;9028957 False 2 67;33;0 9.105 False ENSG00000003400 ENSG00000003400 HGNC:1500 CD48 gene CD48 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inborn error of immunity, MONDO:0003778 31419545;41984595 False 2 50;0;50 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000117091 ENSG00000117091 HGNC:1683 CD8A gene CD8A ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal CD8 deficiency familial, 608957;Susceptibility to respiratory infections associated with CD8alpha chain mutation;Recurrent infections, may be asymptomatic;Immunodeficiencies affecting cellular and humoral immunity 32048120;32086639;26563160;17658607;11435463 False 2 0;100;0 9.105 False ENSG00000153563 ENSG00000153563 HGNC:1706 CFB gene CFB ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Complement factor B deficiency, OMIM:615561;{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, OMIM:612924 24152280;4109808;24152280;33165708;41663882 False 2 80;20;0 9.105 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFTR gene CFTR Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Respiratory infections, pancreatic insufficiency, elevated sweat chloride;Cystic fibrosis, 219700;Congenital defects of phagocyte number or function 32048120;32086639 False 2 33;67;0 9.105 False ENSG00000001626 ENSG00000001626 HGNC:1884 CTC1 gene CTC1 Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiencies with associated or syndromic features;Intrauterine growth retardation, sparse graying hair, dystrophic nails, trilinear bone marrow failure, osteopenia, gastrointestinal hemorrhage due to vascular ectasia, retinal telangiectasia, intracranial calcification, abnormal telomeres;Bone marrow failure;Cerebroretinal microangiopathy with calcifications and cysts, 612199 32048120;22267198;32086639 False 2 0;75;25 9.105 False ENSG00000178971 ENSG00000178971 HGNC:26169 DCLRE1B gene DCLRE1B ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 8, OMIM:620133;dyskeratosis congenita, autosomal recessive 8, MONDO:0859319 20479256;35007328 False 2 71;14;14 9.105 False ENSG00000118655 ENSG00000118655 HGNC:17641 DUOX2 gene DUOX2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal inflammatory bowel disease, MONDO:0005265 26301257;28683258;35429653;38075699 False 2 100;0;0 9.105 False ENSG00000140279 ENSG00000140279 HGNC:13273 ERBIN gene ERBIN Expert Review Amber;IUIS Classification December 2019 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ERBIN deficiency;Combined immunodeficiencies with associated or syndromic features;Recurrent respiratory infections, susceptibility to S. aureus, eczema, hyperextensible joints, scoliosis, arterial dilatation in some 28126831;32086639;32048120 False 2 0;100;0 9.105 False ENSG00000112851 ENSG00000112851 HGNC:15842 FCGR3A gene FCGR3A ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 20, 615707;CD16 deficiency;Defects in Intrinsic and Innate Immunity;Fc receptor deficiencies;predisposition to severe viral infection;severe herpes viral infections, particularly VZV, Epstein Barr virus (EBV), and (HPV);Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity 8874200;23006327;32048120;8609432;8608639;32086639 False 2 33;67;0 9.105 False ENSG00000203747 ENSG00000203747 HGNC:3619 FGL2 gene FGL2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal autoinflammatory syndrome, MONDO:0019751 36243222 False 2 0;50;50 9.105 False ENSG00000127951 ENSG00000127951 HGNC:3696 FGR gene FGR Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted chronic recurrent multifocal osteomyelitis, MONDO:0009813;vasculitis, MONDO:0018882 31138708;41920357 False 2 50;0;50 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000000938 ENSG00000000938 HGNC:3697 FLT3LG gene FLT3LG Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 125 , OMIM:620926;immunodeficiency 125, MONDO:0975749 38701783;10828034 False 2 0;100;0 9.105 False ENSG00000090554 ENSG00000090554 HGNC:3766 FMNL2 gene FMNL2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265 34043722 False 2 0;100;0 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157827 ENSG00000157827 HGNC:18267 FOXI3 gene FOXI3 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted T-cell lymphopenia;low TREC;thymic hypoplasia 35987349 False 2 0;100;0 9.105 False ENSG00000214336 ENSG00000214336 HGNC:35123 FPR1 gene FPR1 ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Periodontitis;Periodontitis only;Congenital defects of phagocyte number or function;Localized juvenile peridontitis 20203610;29105764;8224916;10882119;32048120;28371599;2910576;32086639 False 2 50;50;0 9.105 False ENSG00000171051 ENSG00000171051 HGNC:3826 GCC2 gene GCC2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal NK cell deficiency;recurrent viral infections;immunodeficiency 39813120 False 2 0;50;50 9.105 False ENSG00000135968 ENSG00000135968 HGNC:23218 GIMAP5 gene GIMAP5 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Portal hypertension, noncirrhotic, 2, OMIM:619463;lymphopenia;autoimmunity;immunodeficiency;liver disease 29382851;33956074 False 2 25;50;25 9.105 False ENSG00000196329 ENSG00000196329 HGNC:18005 GINS4 gene GINS4 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency, MONDO:0015131 36345943;40510848;40768335 False 2 50;0;50 9.105 False ENSG00000147536 ENSG00000147536 HGNC:28226 GPR15 gene GPR15 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal inflammatory bowel disease, MONDO:0005265 42259915 False 2 50;0;50 9.105 False ENSG00000154165 ENSG00000154165 HGNC:4469 GTF3A gene GTF3A Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal common variable immunodeficiency, MONDO:001551 36399538 False 2 0;100;0 9.105 False ENSG00000122034 ENSG00000122034 HGNC:4662 HCK gene HCK Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with pulmonary and cutaneous vasculitis, OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis, MONDO:0957204 34536415;41382121;41920357 False 2 50;50;0 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101336 ENSG00000101336 HGNC:4840 HSPA1L gene HSPA1L Expert Review Amber;Literature;NHS GMS Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inflammatory bowel disease, MONDO:0005265 28126021 False 2 40;60;0 9.105 False ENSG00000204390 ENSG00000204390 HGNC:5234 IGKC gene IGKC ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunoglobulin chain deficiencies;Asymptomatic;Kappa light chain deficiency, 614102;Predominantly Antibody Deficiencies 32048120;4185453;32086639 False 2 0;100;0 9.105 False ENSG00000211592 ENSG00000211592 HGNC:5716 IKBKE gene IKBKE Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Herpes Simplex Virus type 2 (HSV-2) meningitis;autoinflammatory syndrome, MONDO:0019751 37937644;39524436 False 2 0;50;50 9.105 False - - HGNC:14552 IL17F gene IL17F ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Candidiasis, familial, 6, 613956;Chronic mucocutaneous candidiasis (CMC);Defects in Intrinsic and Innate Immunity;CMC, folliculitis 32048120;21350122;32086639 False 2 0;33;67 9.105 False ENSG00000112116 ENSG00000112116 HGNC:16404 IL1R1 gene IL1R1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680 37315560 False 2 0;100;0 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115594 ENSG00000115594 HGNC:5993 IL21 gene IL21 Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 11 , OMIM:615767;Severe early onset colitis, recurrent sinopulmonary infections;Immunodeficiencies affecting cellular and humoral immunity 32086639;24746753;32048120 False 2 0;100;0 9.105 False ENSG00000138684 ENSG00000138684 HGNC:6005 IL27RA gene IL27RA Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Epstein-Barr virus infection, MONDO:0005111 38509369 False 2 33;33;33 9.105 False ENSG00000104998 ENSG00000104998 HGNC:17290 IPO8 gene IPO8 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal cardiovascular anomalies;joint hyperlaxity;dysmorphic features;developmental delay;immune dysregulation;allergy 34010604;34010605 False 2 100;0;0 9.105 False ENSG00000133704 ENSG00000133704 HGNC:9853 IRF3 gene IRF3 Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Defects in Intrinsic and Innate Immunity;{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532;Herpes simplex virus 1 encephalitis 32048120;26216125;26513235;32086639 False 2 0;100;0 9.105 False ENSG00000126456 ENSG00000126456 HGNC:6118 IRF9 gene IRF9 Expert Review;Expert Review Amber Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 65, susceptibility to viral infections, 618648 30143481;30826365 False 2 0;100;0 9.105 False ENSG00000213928 ENSG00000213928 HGNC:6131 ITGAV gene ITGAV Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal syndromic disease, MONDO:0002254 39526957 False 2 0;100;0 9.105 False ENSG00000138448 ENSG00000138448 HGNC:6150 ITPKB gene ITPKB Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, absent T cells, present B cells and NK cells 31987846;14517551 False 2 0;0;100 9.105 False ENSG00000143772 ENSG00000143772 HGNC:6179 IVNS1ABP gene IVNS1ABP Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 70, MIM#618969 32499645 False 2 33;33;33 9.105 False ENSG00000116679 ENSG00000116679 HGNC:16951 KARS gene KARS Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hypogammaglobulinemia;antibody deficiency 33942428;37770806 False 2 100;0;0 9.105 False ENSG00000065427 ENSG00000065427 HGNC:6215 KCNA5 gene KCNA5 Expert Review;Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal early-onset pulmonary and cutaneous vasculitis, MONDO:0800137 34536415;35748970 False 2 50;50;0 9.105 False ENSG00000130037 ENSG00000130037 HGNC:6224 KRAS gene KRAS ESID Registry 20171117;Expert Review Amber;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Unknown RAS associated lymphoproliferative disease, 614470;RALD 21079152;21063026 False 2 0;100;0 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000133703 ENSG00000133703 HGNC:6407 LY9 gene LY9 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal inborn error of immunity, MONDO:0003778;Mycobacterium tuberculosis, susceptibility, MONDO:0000070 40446017 False 2 100;0;0 9.105 False ENSG00000122224 ENSG00000122224 HGNC:6730 MAN2B2 gene MAN2B2 Expert Review Amber;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 31775018;38622837 False 2 33;33;33 9.105 False ENSG00000013288 ENSG00000013288 HGNC:29623 MBL2 gene MBL2 ESID Registry 20171117;Expert Review Amber;GRID V2.0;Inherited complement deficiency v0.11;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mannose-Binding Protein Deficiency, 614372;Chronic infections, due to MBL deficiency;Mannose-binding lectin deficiency (MBL) 1458688;7707811;10888598;28347655 False 2 0;100;0 9.105 False ENSG00000165471 ENSG00000165471 HGNC:6922 MKL1 gene MKL1 Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Immunodeficiency 66 , OMIM:618847;immunodeficiency 66, MONDO:0030013;neutropenia, MONDO:0001475 32048120;26224645;32086639;32128589 False 2 25;25;50 9.105 False ENSG00000196588 ENSG00000196588 HGNC:14334 MPO gene MPO ESID Registry 20171117;Expert Review Amber;GRID V2.0 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Myeloperoxidase deficiency 254600 15108282;9354683;9637725;32082301 False 2 0;67;33 9.105 False ENSG00000005381 ENSG00000005381 HGNC:7218 MYB gene MYB Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted combined immunodeficiency, MONDO:0015131 20130238;27577878;29654210;36168523 False 2 100;0;0 9.105 False ENSG00000118513 ENSG00000118513 HGNC:7545 NCSTN gene NCSTN Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Defects in Intrinsic and Innate Immunity;familial hydradenitis suppurativa;Hidradenitis suppurativa with acne, 142690;Defects in intrinsic and innate immunity;Hidradenitis suppurativa with acne 32048120;20929727;21412258;32086639 False 2 0;100;0 9.105 False ENSG00000162736 ENSG00000162736 HGNC:17091 NFATC1 gene NFATC1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal inborn error of immunity, MONDO:0003778 37249233 False 2 0;50;50 9.105 False ENSG00000131196 ENSG00000131196 HGNC:7775 NFATC2 gene NFATC2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Joint contracture, osteochondromas, and B-cell lymphoma, OMIM:620232;joint contractures, osteochondromas, and B-cell lymphoma, MONDO:0859369;lymphoproliferative syndrome, MONDO:0016537 35789258;38427060 False 2 0;50;50 9.105 False ENSG00000101096 ENSG00000101096 HGNC:7776 NOP10 gene NOP10 ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1 224230;Dyskeratosis congenita 1;Dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome;Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;Combined immunodeficiencies with associated or syndromic features 17507419 False 2 33;33;33 9.105 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOX1 gene NOX1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) inflammatory bowel disease, MONDO:0005265 26301257;29091079;32064493 False 2 0;50;50 9.105 False ENSG00000007952 ENSG00000007952 HGNC:7889 NRAS gene NRAS ESID Registry 20171117;Expert Review Amber;GOSH PID v.8.0;GRID V2.0;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology Other - please specifiy in evaluation comments ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470;Autoimmune lymphoproliferative syndrome type IV;Ras associated lymphoproliferative disease (RALD) 17517660;21079152;29141318;5896945 False 2 50;50;0 9.105 False ENSG00000213281 ENSG00000213281 HGNC:7989 OSMR gene OSMR Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Atopic dermatitis;eosinophilia;elevated IgE;atopic eczema, MONDO:0004980 41783139;42221229 False 2 100;0;0 9.105 False ENSG00000145623 ENSG00000145623 HGNC:8507 PAX5 gene PAX5 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal PAX5-related B lymphopenia and autism spectrum disorder, MONDO:0100299;Hypogammaglobulinaemia 35947077 False 2 0;50;50 9.105 False ENSG00000196092 ENSG00000196092 HGNC:8619 PLCG1 gene PLCG1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Immune dysregulation, autoimmunity, and autoinflammation, OMIM:620514;immune dysregulation, autoimmunity, and autoinflammation, MONDO:0957790 37422272;40862571 False 2 100;0;0 9.105 False ENSG00000124181 ENSG00000124181 HGNC:9065 POLD3 gene POLD3 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal severe combined immunodeficiency, MONDO:0015974 37030525 False 2 0;100;0 9.105 False ENSG00000077514 ENSG00000077514 HGNC:20932 POLR3A gene POLR3A Expert list;Expert Review Amber Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection 28783042;29728610 False 2 0;100;0 9.105 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3C gene POLR3C Expert list;Expert Review Amber Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe VZV infection 28783042 False 2 0;100;0 9.105 False ENSG00000186141 ENSG00000186141 HGNC:30076 PSENEN gene PSENEN Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018 Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Defects in intrinsic and innate immunity;Acne inversa, familial, 2, with or without Dowling-Degos disease 613736;Defects in Intrinsic and Innate Immunity;Hidradenitis suppurativa 21412258;28601418;23439959;32048120;27900998;28287404;20929727;28922471;23020871;32086639 False 2 0;100;0 9.105 False ENSG00000205155 ENSG00000205155 HGNC:30100 PSMA3 gene PSMA3 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591 False 2 20;60;20 9.105 False ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB4 gene PSMB4 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591;CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591;34416217 False 2 25;75;0 9.105 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB9 gene PSMB9 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591;CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591;33727065;34819510 False 2 25;75;0 9.105 False ENSG00000240065 ENSG00000240065 HGNC:9546 PTEN gene PTEN Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Recurrent infections, Lymphoproliferation, Autoimmunity;developmental delay;Predominantly Antibody Deficiencies;Lymphoproliferation, Autoimmunity 32048120;27426521;32086639 False 2 0;100;0 9.105 False ENSG00000171862 ENSG00000171862 HGNC:9588 QSOX2 gene QSOX2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Maharaj Storr Syndrome 39341815 False 2 0;100;0 9.105 False ENSG00000165661 ENSG00000165661 HGNC:30249 RC3H1 gene RC3H1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis 31636267;15917799 False 2 0;100;0 9.105 False ENSG00000135870 ENSG00000135870 HGNC:29434 REXO2 gene REXO2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted type 1 interferonopathy, MONDO:0700264 39107301 False 2 0;100;0 9.105 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000076043 ENSG00000076043 HGNC:17851 RHBDF2 gene RHBDF2 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Pneumonia;Colitis;Immunodeficiency 34937930 False 2 0;0;100 9.105 False ENSG00000129667 ENSG00000129667 HGNC:20788 RHOH gene RHOH ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal RhoH deficiency;T cell deficiency and various infectious diseases;Epidermodysplasia verruciformis;HPV infection, lung granulomas, molluscum contagiosum, lymphoma;Immunodeficiencies affecting cellular and humoral immunity;Combined immunodeficiency 32086639;24189071;22850876;32048120 False 2 0;100;0 9.105 False ENSG00000168421 ENSG00000168421 HGNC:686 RNF31 gene RNF31 Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 115 with autoinflammation, OMIM:620632;immunodeficiency 115 with autoinflammation, MONDO:0957981 26008899;30936877;39009172;41026334 False 2 20;40;40 9.105 False ENSG00000092098 ENSG00000092098 HGNC:16031 RNU4ATAC gene RNU4ATAC Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;Other Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Roifman syndrome, OMIM:616651;Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly 26522830;32086639;21474760;32048120;33059947;28623346;29391254 False 2 100;0;0 9.105 False ENSG00000264229 ENSG00000264229 HGNC:34016 RNU6ATAC gene RNU6ATAC Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal hypothyroidism, MONDO:0005420;Immune dysregulation, HP:0002958;thyroiditis, MONDO:0004126;alopecia, MONDO:0004907 40975062;41864208 False 2 100;0;0 9.105 False ENSG00000221676 ENSG00000221676 HGNC:34017 SCGN gene SCGN Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ulcerative colitis, MONDO:0005101 31663849 False 2 0;50;50 9.105 False ENSG00000079689 ENSG00000079689 HGNC:16941 SENP7 gene SENP7 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;Recurrent infections, HP:0002719 37460201;38972567;39763084 False 2 100;0;0 9.105 False ENSG00000138468 ENSG00000138468 HGNC:30402 SEPT6 gene SEPT6 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology X-LINKED: hemizygous mutation in males, biallelic mutations in females severe congenital neutropenia, MONDO:0018542;Immunodeficiency, HP:0002721;Congenital neutropenia;B cell deficiency;T cell lymphopenia;Abnormal newborn screening for SCID;Hypersegmented neutrophils;Myelodysplasia;Decreased circulating B cells;Leukopenia 42088107, 34677878 False 2 50;50;0 9.105 False ENSG00000125354 ENSG00000125354 HGNC:15848 SH2B3 gene SH2B3 Expert list;Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal SH2B3-related immune system disorder, MONDO:1060195 23908464;37206266;40481232 False 2 50;0;50 9.105 False ENSG00000111252 ENSG00000111252 HGNC:29605 SHARPIN gene SHARPIN Expert list;Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Autoinflammation with episodic fever and immune dysregulation, OMIM:620795;autoinflammation with episodic fever and immune dysregulation, MONDO:0968982 17538631;38609546 False 2 100;0;0 9.105 False ENSG00000179526 ENSG00000179526 HGNC:25321 SIT1 gene SIT1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal combined immunodeficiency, MONDO:0015131 42128181 False 2 0;50;50 9.105 False ENSG00000137078 ENSG00000137078 HGNC:17710 SLC19A1 gene SLC19A1 Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?Megaloblastic anemia, folate-responsive, OMIM:601775;Immunodeficiency 114, folate-responsive, OMIM:620603 32276275;36517554;36745868 False 2 100;0;0 9.105 False ENSG00000173638 ENSG00000173638 HGNC:10937 SLC30A2 gene SLC30A2 ClinGen;Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Zinc deficiency, transient neonatal, OMIM:608118;zinc deficiency, transient neonatal, MONDO:0011973 17065149;36967740;22733820;24194756;24456035;27304099;28111782;37082517;23741301;32278324 False 2 0;100;0 9.105 False ENSG00000158014 ENSG00000158014 HGNC:11013 SLC9A3 gene SLC9A3 Expert Review;Expert Review Amber Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Very Early Onset Inflammatory Bowel Disease;Diarrhea 8, secretory sodium, congenital, OMIM:616868 26358773;31276831;30633106;33346580 False 2 0;100;0 9.105 False ENSG00000066230 ENSG00000066230 HGNC:11073 SRP72 gene SRP72 Expert Review Amber;Literature;Research Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, OMIM:614675;autosomal dominant aplasia and myelodysplasia, MONDO:0013851 22541560;29146883;32098966;31254415;40922878 False 2 50;50;0 9.105 False ENSG00000174780 ENSG00000174780 HGNC:11303 TAPBP gene TAPBP ESID Registry 20171117;Expert Review Amber;GOSH PID v.8.0;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Other;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal ?MHC class I deficiency 3, OMIM:620814;MHC class I deficiency 3, MONDO:0971012 32086639;12149238;32048120;38866210;38989814 False 2 25;75;0 9.105 False ENSG00000231925 ENSG00000231925 HGNC:11566 TERC gene TERC ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients;Dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome;microcephaly, neurodevelopmental delay;Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;Bone marrow failure;Dyskeratosis congenita 1;Combined immunodeficiencies with associated or syndromic features 32048120;12525685;16332973;11574891;32086639 False 2 0;100;0 9.105 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 16247010;18460650;15885610;17785587 False 2 0;100;0 9.105 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;microcephaly, neurodevelopmental delay;Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation;microcephaly, neurodevelopmental delay exudative retinopathy 18252230;18979121;21199492;21477109;29742735;27033759;18669893 False 2 0;100;0 9.105 False ENSG00000092330 ENSG00000092330 HGNC:11824 TNFRSF11A gene TNFRSF11A Expert Review Amber;IUIS Classification December 2019;IUIS Classification February 2018;London North GLH;NHS GMS;North West GLH Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Osteopetrosis;Defects in Intrinsic and Innate Immunity;Defects in intrinsic and innate immunity 32048120;32086639 False 2 0;100;0 9.105 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF13C gene TNFRSF13C ESID Registry 20171117;Expert Review Amber;GRID V2.0;IUIS Classification December 2019;IUIS Classification February 2018;Victorian Clinical Genetics Services Primary immunodeficiency or monogenic inflammatory bowel disease Immunology BIALLELIC, autosomal or pseudoautosomal Variable clinical expression;Common variable immunodeficiency disorders (CVID);Immunodeficiency, common variable, 4;Isolated IgG subclass deficiency;Predominantly Antibody Deficiencies 32048120;32086639 False 2 0;100;0 9.105 False ENSG00000159958 ENSG00000159958 HGNC:17755 ZBTB7B gene ZBTB7B Expert Review Amber;Literature Primary immunodeficiency or monogenic inflammatory bowel disease Immunology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inborn error of immunity, MONDO:0003778;interstitial lung disease, MONDO:0015925;Global developmental delay, HP:0001263 40392549 False 2 0;50;50 9.105 False ENSG00000160685 ENSG00000160685 HGNC:18668