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 8.99 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 8.99 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 8.99 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 8.99 False ENSG00000197785 ENSG00000197785 HGNC:25567 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 8.99 False ENSG00000127152 ENSG00000127152 HGNC:13222 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 8.99 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 8.99 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 8.99 False ENSG00000003400 ENSG00000003400 HGNC:1500 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 8.99 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor B deficiency, 615561;Atypical Hemolytic-uremic syndrome;Infections with encapsulated organisms;Complement Deficiencies;Susceptibility to atypical haemolytic uraemic syndrome 4 (AD);complement factor B deficiency (AR) 24152280;4109808 False 2 75;25;0 8.99 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 8.99 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 8.99 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 20479256 False 2 67;17;17 8.99 False ENSG00000118655 ENSG00000118655 HGNC:17641 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 8.99 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 8.99 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 8.99 False ENSG00000127951 ENSG00000127951 HGNC:3696 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 False ENSG00000196329 ENSG00000196329 HGNC:18005 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 8.99 False ENSG00000122034 ENSG00000122034 HGNC:4662 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 8.99 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 8.99 False ENSG00000211592 ENSG00000211592 HGNC:5716 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 False ENSG00000116679 ENSG00000116679 HGNC:16951 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 8.99 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 8.99 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 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 8.99 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 8.99 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 Susceptibility to severe bacterial infection;Mild thrombocytopenia;Congenital defects of phagocyte number or function 32048120;26224645;32086639;32128589 False 2 0;33;67 8.99 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 8.99 False ENSG00000005381 ENSG00000005381 HGNC:7218 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 8.99 False ENSG00000162736 ENSG00000162736 HGNC:17091 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 8.99 False ENSG00000182117 ENSG00000182117 HGNC:14378 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 8.99 False ENSG00000213281 ENSG00000213281 HGNC:7989 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 Bacterial infections, autoinflammation, amylopectinosis, lymphangiectasia;Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis;Polyglucosan body myopathy, early-onset, with or without immunodeficiency;autoinflammation and combined immunodeficiency;Combined immunodeficiencies with associated or syndromic features 30936877;32086639;26008899;32048120 False 2 0;50;50 8.99 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 8.99 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 8.99 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 8.99 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 8.99 False ENSG00000138468 ENSG00000138468 HGNC:30402 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 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 8.99 False ENSG00000159958 ENSG00000159958 HGNC:17755