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 APOE gene APOE Expert Review Amber;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal dementia 32451547 False 2 0;0;0 1.147 False ENSG00000130203 ENSG00000130203 HGNC:613 ATF3 gene ATF3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000162772 ENSG00000162772 HGNC:785 ATG16L1 gene ATG16L1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 30666959;29367244;32265919;30510929 False 2 0;100;0 1.147 False ENSG00000085978 ENSG00000085978 HGNC:21498 ATG5 gene ATG5 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000057663 ENSG00000057663 HGNC:589 BECN1 gene BECN1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000126581 ENSG00000126581 HGNC:1034 CCR7 gene CCR7 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000126353 ENSG00000126353 HGNC:1608 CD207 gene CD207 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000116031 ENSG00000116031 HGNC:17935 CD28 gene CD28 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000178562 ENSG00000178562 HGNC:1653 CD4 gene CD4 ESID Registry 20171117;Expert Review Amber COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Selective CD4 cell deficiency;OKT4 epitope deficiency, 613949;Absence of CD4+ T cells;exuberant, relapsing, treatment-refractory warts 25611551;31781092 False 2 0;50;50 1.147 False ENSG00000010610 ENSG00000010610 HGNC:1678 CLEC4M gene CLEC4M Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown SARS infection, protection against, 605872 16991095;16369534;12738250;16364081;17321900;18697825;17534354;17534355;15496474 False 2 0;0;100 1.147 False ENSG00000104938 ENSG00000104938 HGNC:13523 CPT2 gene CPT2 Expert Review Amber;OMIM COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Encephalopathy, acute, infection-induced, 4, susceptibility to} 614212 15811315;18306170;20934285;21697855 False 2 0;100;0 1.147 False ENSG00000157184 ENSG00000157184 HGNC:2330 CX3CR1 gene CX3CR1 Expert Review Amber;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {Rapid progression to AIDS from HIV1 infection} 609423 14607932;9726990;14607932;10731151;28228284 False 2 0;100;0 1.147 False ENSG00000168329 ENSG00000168329 HGNC:2558 CXADR gene CXADR Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000154639 ENSG00000154639 HGNC:2559 CXCR3 gene CXCR3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 27412416;19039768;30109979;26318079;30467622 False 2 0;100;0 1.147 False ENSG00000186810 ENSG00000186810 HGNC:4540 DDX58 gene DDX58 Expert Review Amber;Literature COVID-19 research Viral research Unknown 21939710;16625202;15737993;25749629 False 2 0;0;0 1.147 False ENSG00000107201 ENSG00000107201 HGNC:19102 DEFA1 gene DEFA1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 32457744 False 2 0;100;0 1.147 False ENSG00000206047 ENSG00000206047 HGNC:2761 DPP4 gene DPP4 Expert Review Amber;Literature COVID-19 research Viral research Unknown Susceptiblity to MERS-CoV infection 32336077;32394639;23486063;24554656;24599590;25589660;26124093;https://doi.org/10.1101/2020.04.30.071274;31883094;31964246 False 2 0;100;0 1.147 False ENSG00000197635 ENSG00000197635 HGNC:3009 DSG2 gene DSG2 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 21151137;30862836 False 2 0;0;0 1.147 False ENSG00000046604 ENSG00000046604 HGNC:3049 EIF3M gene EIF3M Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 20676407;15919898 False 2 0;0;0 1.147 False ENSG00000149100 ENSG00000149100 HGNC:24460 FCMR gene FCMR Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 32073687;29461978;28747342;23359703 False 2 0;0;0 1.147 False ENSG00000162894 ENSG00000162894 HGNC:14315 FEZ1 gene FEZ1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 30815230;15843383;15879557;19667186;25818806;28930676;25495476 False 2 0;0;0 1.147 False ENSG00000149557 ENSG00000149557 HGNC:3659 FOLR1 gene FOLR1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000110195 ENSG00000110195 HGNC:3791 FURIN gene FURIN Expert Review Amber;Literature COVID-19 research Viral research Unknown 25974265;32362314 False 2 0;0;0 1.147 False ENSG00000140564 ENSG00000140564 HGNC:8568 FUT2 gene FUT2 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {Norwalk virus infection, resistance to} 12692541;30845670 False 2 100;0;0 1.147 False ENSG00000176920 ENSG00000176920 HGNC:4013 GC gene GC Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;0;100 1.147 False ENSG00000145321 ENSG00000145321 HGNC:4187 GNAQ gene GNAQ Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000156052 ENSG00000156052 HGNC:4390 GPATCH3 gene GPATCH3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000198746 ENSG00000198746 HGNC:25720 GPR183 gene GPR183 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000169508 ENSG00000169508 HGNC:3128 GUCY2C gene GUCY2C Expert Review Amber;GOSH PID v.8.0;London North GLH;NHS GMS;North West GLH COVID-19 research Viral research BOTH monoallelic and biallelic, autosomal or pseudoautosomal meconium ileus, 614665;Diarrhea 6, 614616 False 2 0;60;40 1.147 False ENSG00000070019 ENSG00000070019 HGNC:4688 IDE gene IDE Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000119912 ENSG00000119912 HGNC:5381 IFNL3 gene IFNL3 Expert Review Amber;Literature COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000197110 ENSG00000197110 HGNC:18365 IL18 gene IL18 ESID Registry 20171117;Expert Review Amber COVID-19 research Viral research Unknown Defects with susceptibility to mycobacterial infection (MSMD) 15606801;25395539;31660404 False 2 0;100;0 1.147 False ENSG00000150782 ENSG00000150782 HGNC:5986 IL3 gene IL3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000164399 ENSG00000164399 HGNC:6011 IL7 gene IL7 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal {?Epidermodysplasia verruciformis, susceptibility to, 5}, 618309 31900472;25981006 False 2 0;100;0 1.147 False ENSG00000104432 ENSG00000104432 HGNC:6023 IL9 gene IL9 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000145839 ENSG00000145839 HGNC:6029 ILF3 gene ILF3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000129351 ENSG00000129351 HGNC:6038 ITGAM gene ITGAM Expert Review Amber;GRID V2.0;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Systemic lupus erythematous 29712964;32257537 False 2 0;100;0 1.147 False ENSG00000169896 ENSG00000169896 HGNC:6149 ITPKB gene ITPKB Expert list;Expert Review Amber COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, absent T cells, present B cells and NK cells 31987846;14517551 False 2 0;100;0 1.147 False ENSG00000143772 ENSG00000143772 HGNC:6179 IVNS1ABP gene IVNS1ABP Expert Review Amber;Literature COVID-19 research Viral research Unknown False 2 0;50;50 1.147 False ENSG00000116679 ENSG00000116679 HGNC:16951 KHDRBS1 gene KHDRBS1 Expert Review Amber;Other COVID-19 research Viral research Unknown 12529443;26695943;26202240;27057671;15701759;31068419 False 2 0;0;0 1.147 False ENSG00000121774 ENSG00000121774 HGNC:18116 KRAS gene KRAS ESID Registry 20171117;Expert Review Amber;GRID V2.0 COVID-19 research Viral research Unknown RALD;RAS-associated autoimmune leukoproliferative disorder, 614470 21079152;21063026 False 2 0;100;0 1.147 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 LILRB1 gene LILRB1 Expert Review Amber;Other COVID-19 research Viral research Unknown HCMV susceptibility 30461037;32321755;29528338 False 2 0;0;0 1.147 False ENSG00000104972 ENSG00000104972 HGNC:6605 MICA gene MICA Expert Review Amber;Literature COVID-19 research Viral research Unknown primary immunodeficiency https://doi.org/10.1101/499988;28925058;31033131;15029237;27130430;21762746 False 2 0;0;100 1.147 False ENSG00000204520 ENSG00000204520 HGNC:7090 MIF gene MIF Expert Review Amber;Other COVID-19 research Viral research Unknown {Rheumatoid arthritis, systemic juvenile, susceptibility to}, 604302 17909632 False 2 0;0;0 1.147 False ENSG00000240972 ENSG00000240972 HGNC:7097 MIR155 gene MIR155 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False - ENSG00000283904 HGNC:31542 MRC1 gene MRC1 Expert Review Amber;Other COVID-19 research Viral research Unknown 12645947;24016730;24969847;23653008;22393309;22392581 False 2 0;0;0 1.147 False ENSG00000120586 ENSG00000260314 HGNC:7228 MRE11 gene MRE11 ESID Registry 20171117;Expert Review Amber;GRID V2.0 COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal AT-like disorder;Ataxia-telangiectasia-like disorder 1 604391 8445618;10612394;15574463;32212377;29709199 False 2 0;25;75 1.147 False ENSG00000020922 ENSG00000020922 HGNC:7230 MX2 gene MX2 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 15184662;24048477;25571928;8798556;32345362;30333168 False 2 0;100;0 1.147 False ENSG00000183486 ENSG00000183486 HGNC:7533 NECTIN1 gene NECTIN1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000110400 ENSG00000110400 HGNC:9706 NLRP6 gene NLRP6 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000174885 ENSG00000174885 HGNC:22944 NPC1 gene NPC1 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000141458 ENSG00000141458 HGNC:7897 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 COVID-19 research Viral research Other Ras associated lymphoproliferative disease (RALD);Autoimmune lymphoproliferative syndrome type IV;RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic 614470 21079152;5896945;17517660;29141318 False 2 40;60;0 1.147 False ENSG00000213281 ENSG00000213281 HGNC:7989 PDGFRA gene PDGFRA Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000134853 ENSG00000134853 HGNC:8803 PSMA3 gene PSMA3 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research Unknown CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591 False 2 25;50;25 1.147 False ENSG00000100567 ENSG00000100567 HGNC:9532 PSMB10 gene PSMB10 Expert Review Amber;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome (PRAAS) 31783057 False 2 50;50;0 1.147 False ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB4 gene PSMB4 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) 26524591 False 2 20;80;0 1.147 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB9 gene PSMB9 Expert Review Amber;London North GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services COVID-19 research Viral research MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome);Autoinflammation, lipodystrophy, and dermatosis syndrome 26524591;33727065;34819510 False 2 25;75;0 1.147 False ENSG00000240065 ENSG00000240065 HGNC:9546 PTX3 gene PTX3 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000163661 ENSG00000163661 HGNC:9692 PVR gene PVR Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown False 2 0;100;0 1.147 False ENSG00000073008 ENSG00000073008 HGNC:9705 RC3H1 gene RC3H1 Expert Review Amber;Literature COVID-19 research Viral research BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis 31636267;15917799 False 2 0;100;0 1.147 False ENSG00000135870 ENSG00000135870 HGNC:29434 SCARB1 gene SCARB1 Expert Review Amber;Literature COVID-19 research Viral research Unknown False 2 0;0;0 1.147 False ENSG00000073060 ENSG00000073060 HGNC:1664 SERINC3 gene SERINC3 Expert Review Amber;Literature COVID-19 research Viral research Unknown 26416733;26416734 False 2 0;100;0 1.147 False ENSG00000132824 ENSG00000132824 HGNC:11699 SERINC5 gene SERINC5 Expert Review Amber;Literature COVID-19 research Viral research Unknown 26416734;31918727 False 2 0;100;0 1.147 False ENSG00000164300 ENSG00000164300 HGNC:18825 SLC2A1 gene SLC2A1 Expert list;Expert Review Amber COVID-19 research Viral research Unknown 15767416;22308487 False 2 0;100;0 1.147 False ENSG00000117394 ENSG00000117394 HGNC:11005 TBX21 gene TBX21 Expert list;Expert Review Amber COVID-19 research Viral research Unknown {Asthma, aspirin-induced, susceptibility to}, 208550;susceptibility to chronic HBV and HCV infection 15806396;17378728;19473434;29399747 False 2 0;100;0 1.147 False ENSG00000073861 ENSG00000073861 HGNC:11599 TNFSF10 gene TNFSF10 Expert list;Expert Review Amber;OMIM COVID-19 research Viral research Unknown 18802095;14702109;31725732;27740879;17913827;15110181;29521598 False 2 0;0;0 1.147 False ENSG00000121858 ENSG00000121858 HGNC:11925