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 C17orf62 gene C17orf62 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Chronic granulomatous disease 5, autosomal recessive, MIM# 618935" Unusual infection;HP:0032101 30361506;30312704;28351984 False 3 100;0;0 1.33 True ENSG00000178927 ENSG00000178927 HGNC:28672 CCR2 gene CCR2 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Polycystic lung disease MIM#219600 Unusual infection;HP:0032101 38157855 False 3 100;0;0 1.33 True ENSG00000121807 ENSG00000121807 HGNC:1603 CEBPE gene CEBPE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency, MIM# 245480 Unusual infection;HP:0032101 10359588;11313242;31256937;29651288 False 3 100;0;0 1.33 True ENSG00000092067 ENSG00000092067 HGNC:1836 CFTR gene CFTR Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Cystic fibrosis, MIM# 219700" Unusual infection;HP:0032101 False 3 100;0;0 1.33 True ENSG00000001626 ENSG00000001626 HGNC:1884 CLPB gene CLPB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 Unusual infection;HP:0032101 25597510;34140661 False 3 100;0;0 1.33 True ENSG00000162129 ENSG00000162129 HGNC:30664 CSF2RA gene CSF2RA Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4 MIM#300770 Unusual infection;HP:0032101 18955567;18955570;31326401;28233860;28212655;24279752 False 3 100;0;0 1.33 True ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 5 MIM#614370 Unusual infection;HP:0032101 7568173;21075760;21205713;25274301;30846703;32048120 False 3 100;0;0 1.33 True ENSG00000100368 ENSG00000100368 HGNC:2436 CSF3R gene CSF3R Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Unusual infection;HP:0032101 24753537;26324699;33511998;32966608 False 3 100;0;0 1.33 True ENSG00000119535 ENSG00000119535 HGNC:2439 CTSC gene CTSC Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Papillon-Lefevre syndrome, MIM# 245000 Unusual infection;HP:0032101 25244098 False 3 100;0;0 1.33 True ENSG00000109861 ENSG00000109861 HGNC:2528 CXCR2 gene CXCR2 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "WHIM syndrome 2 619407" Unusual infection;HP:0032101 24777453 False 3 50;0;50 1.33 True ENSG00000180871 ENSG00000180871 HGNC:6027 CXCR4 gene CXCR4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome 1, MIM# 193670 Unusual infection;HP:0032101 12692554;15536153;23009155 False 3 100;0;0 1.33 True ENSG00000121966 ENSG00000121966 HGNC:2561 CYBA gene CYBA Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 4, autosomal recessive, MIM# 233690;MONDO:0009308 Unusual infection;HP:0032101 2770793 False 3 100;0;0 1.33 True ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, X-linked, MIM# 306400 Unusual infection;HP:0032101 2556453;1710153;9585602 False 3 100;0;0 1.33 True ENSG00000165168 ENSG00000165168 HGNC:2578 DNAJC21 gene DNAJC21 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 3, MIM# 617052;Short stature;Exocrine pancreatic insufficiency;Pancytopaenia;Shwachman-Diamond syndrome" Unusual infection;HP:0032101 29700810;28062395;27346687 False 3 100;0;0 1.33 True ENSG00000168724 ENSG00000168724 HGNC:27030 EFL1 gene EFL1 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Shwachman-Diamond syndrome 2, MIM# 617941" Unusual infection;HP:0032101 28331068;31151987 False 3 100;0;0 1.33 True ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700;Neutropaenia, cyclic, MIM# 162800 Unusual infection;HP:0032101 10581030;11001877;33968054;3124897 False 3 100;0;0 1.33 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 FERMT3 gene FERMT3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III, MIM# 612840 Unusual infection;HP:0032101 19234460;19064721 False 3 100;0;0 1.33 True ENSG00000149781 ENSG00000149781 HGNC:23151 G6PC3 gene G6PC3 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541;MONDO:0012930;Dursun syndrome, MIM# 612541 Unusual infection;HP:0032101 19118303;20799326;25492228;17318259;20616219 False 3 100;0;0 1.33 True ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD Expert list;Expert Review Green Phagocyte Defects Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Hemolytic anemia, G6PD deficient (favism), MIM# 300908" Unusual infection;HP:0032101 False 3 100;0;0 1.33 True ENSG00000160211 ENSG00000160211 HGNC:4057 GATA2 gene GATA2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emberger syndrome, MIM# 614038 Unusual infection;HP:0032101 26710799 False 3 100;0;0 1.33 True ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Unusual infection;HP:0032101 12778173;20560965;11810106;22684987 False 3 100;0;0 1.33 True ENSG00000162676 ENSG00000162676 HGNC:4237 HAX1 gene HAX1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738;Kostmann syndrome MONDO:0012548 Unusual infection;HP:0032101 17187068;18611981;19036076 False 3 100;0;0 1.33 True ENSG00000143575 ENSG00000143575 HGNC:16915 HYOU1 gene HYOU1 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 59 and hypoglycemia, MIM# 233600" Unusual infection;HP:0032101 27913302;35822684 False 3 33;33;33 1.33 True ENSG00000149428 ENSG00000149428 HGNC:16931 ITGB2 gene ITGB2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, MIM# 116920 Unusual infection;HP:0032101 1968911;1694220;33957747;32279896;31374327 False 3 100;0;0 1.33 True ENSG00000160255 ENSG00000160255 HGNC:6155 JAGN1 gene JAGN1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 6, autosomal recessive, MIM# 616022 Unusual infection;HP:0032101 25129144 False 3 100;0;0 1.33 True ENSG00000171135 ENSG00000171135 HGNC:26926 MPEG1 gene MPEG1 Expert list;Expert Review Green Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 77, MIM# 619223 Unusual infection;HP:0032101 33224153;33692780;28422754 False 3 100;0;0 1.33 True ENSG00000197629 ENSG00000197629 HGNC:29619 MSN gene MSN Expert list;Expert Review Green Phagocyte Defects Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 50, MIM# 300988 Unusual infection;HP:0032101 27405666 False 3 100;0;0 1.33 True ENSG00000147065 ENSG00000147065 HGNC:7373 NCF1 gene NCF1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 1, autosomal recessive, MIM# 233700 Unusual infection;HP:0032101 2011585;11133775;10706888;16972229;16972229 False 3 100;0;0 1.33 True ENSG00000158517 ENSG00000158517 HGNC:7660 NCF2 gene NCF2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 2, autosomal recessive, MIM# 233710 Unusual infection;HP:0032101 7795241;10498624 False 3 100;0;0 1.33 True ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Unusual infection;HP:0032101 19692703;16880254;29969437 False 3 100;0;0 1.33 True ENSG00000100365 ENSG00000100365 HGNC:7662 OTULIN gene OTULIN Expert Review Green;Literature Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986 Unusual infection;HP:0032101 35587511 False 3 100;0;0 1.33 True ENSG00000154124 ENSG00000154124 HGNC:25118 RAC2 gene RAC2 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutrophil immunodeficiency syndrome, MIM# 608203;Common variable immunodeficiency Unusual infection;HP:0032101 25512081 False 3 100;0;0 1.33 True ENSG00000128340 ENSG00000128340 HGNC:9802 SBDS gene SBDS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 Unusual infection;HP:0032101 False 3 100;0;0 1.33 True ENSG00000126524 ENSG00000126524 HGNC:19440 SEC61A1 gene SEC61A1 Expert list;Expert Review Green Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056;Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674;Immunodeficiency, common variable, 15, MIM# 620670 Unusual infection;HP:0032101 27392076;32325141;28782633 False 3 100;0;0 1.33 True ENSG00000058262 ENSG00000058262 HGNC:18276 SENP7 gene SENP7 Expert Review Green;Literature Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related Unusual infection;HP:0032101 PMID: 37460201;38972567 False 3 50;50;0 1.33 True ENSG00000138468 ENSG00000138468 HGNC:30402 SLC35C1 gene SLC35C1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Unusual infection;HP:0032101 11326279;12116250;33098347;32313197;24403049 False 3 100;0;0 1.33 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC37A4 gene SLC37A4 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, MIM# 232220 Unusual infection;HP:0032101 False 3 100;0;0 1.33 True ENSG00000137700 ENSG00000137700 HGNC:4061 SMARCD2 gene SMARCD2 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Specific granule deficiency 2, MIM# 617475;Neutropaenia;Neurodevelopmental abnormalities in some;Myelodysplasia" Unusual infection;HP:0032101 28369036;28369034 False 3 100;0;0 1.33 True ENSG00000108604 ENSG00000108604 HGNC:11107 SRP54 gene SRP54 Expert list;Expert Review Green Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752" Unusual infection;HP:0032101 29914977;28972538 False 3 100;0;0 1.33 True ENSG00000100883 ENSG00000100883 HGNC:11301 TAZ gene TAZ Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM# 302060 Unusual infection;HP:0032101 False 3 100;0;0 1.33 True ENSG00000102125 ENSG00000102125 HGNC:11577 USB1 gene USB1 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropaenia, MIM# 604173;MONDO:0011405 Unusual infection;HP:0032101 25044170;27612988;20004881;20503306;34004352;33624217;33111394;32936385;32620997;31522452 False 3 100;0;0 1.33 True ENSG00000103005 ENSG00000103005 HGNC:25792 VPS13B gene VPS13B Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, MIM# 216550 Unusual infection;HP:0032101 False 3 100;0;0 1.33 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS45 gene VPS45 Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285 Unusual infection;HP:0032101 23738510;23599270;33623350;32037586;30294941 False 3 100;0;0 1.33 True ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropaenia, severe congenital, X-linked, MIM# 300299 Unusual infection;HP:0032101 11242115;16804117;19006568 False 3 100;0;0 1.33 True ENSG00000015285 ENSG00000015285 HGNC:12731 WDR1 gene WDR1 Expert list;Expert Review Green Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550;Neutropaenia;Poor wound healing;Severe stomatitis;Neutrophil nuclei herniate;Autoinflammatory periodic fever;Thrombocytopaenia Unusual infection;HP:0032101 27994071;27557945;29751004 False 3 100;0;0 1.33 True ENSG00000071127 ENSG00000071127 HGNC:12754 ACTB gene ACTB Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 1, MIM# 243310 Unusual infection;HP:0032101 False 2 0;100;0 1.33 True ENSG00000075624 ENSG00000075624 HGNC:132 LAMTOR2 gene LAMTOR2 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Unusual infection;HP:0032101 17195838;24092934 False 2 0;100;0 1.33 True ENSG00000116586 ENSG00000116586 HGNC:29796 MKL1 gene MKL1 Expert list;Expert Review Amber Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia with combined immune deficiency Unusual infection;HP:0032101 32128589;26224645 False 2 0;100;0 1.33 True ENSG00000196588 ENSG00000196588 HGNC:14334 SRP19 gene SRP19 Expert Review Amber;Literature Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related Unusual infection;HP:0032101 PMID: 36223592 False 2 0;50;50 1.33 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP68 gene SRP68 Expert list;Expert Review Amber Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534" Unusual infection;HP:0032101 32273475 False 2 0;100;0 1.33 True ENSG00000167881 ENSG00000167881 HGNC:11302 SRPRA gene SRPRA Expert Review Amber;Literature Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Unusual infection;HP:0032101 PMID: 36223592 False 2 0;50;50 1.33 True ENSG00000182934 ENSG00000182934 HGNC:11307 TCIRG1 gene TCIRG1 Expert Review;Expert Review Amber Phagocyte Defects Immunological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 Unusual infection;HP:0032101 24753205;35573728 False 2 0;100;0 1.33 True ENSG00000110719 ENSG00000110719 HGNC:11647 WIPF1 gene WIPF1 Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2, MIM# 614493 Unusual infection;HP:0032101 17312144;17890224 False 2 0;100;0 1.33 True ENSG00000115935 ENSG00000115935 HGNC:12736 DBF4 gene DBF4 Expert list;Expert Review Red Phagocyte Defects Immunological disorders BIALLELIC, autosomal or pseudoautosomal severe congenital neutropenia MONDO:0018542 Unusual infection;HP:0032101 36841265 False 1 0;0;100 1.33 True ENSG00000006634 ENSG00000006634 HGNC:17364 FPR1 gene FPR1 Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services Phagocyte Defects Immunological disorders Unknown Periodontitis Unusual infection;HP:0032101 29105764;28371599 False 1 0;0;100 1.33 True ENSG00000171051 ENSG00000171051 HGNC:3826