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 APOA1 gene APOA1 Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis 105200 26515634;12050338;27240838;32022753 False 3 100;0;0 1.34 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA2 gene APOA2 Expert Review Green;Literature Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis 11401442; 20301373 False 3 100;0;0 1.34 False ENSG00000158874 ENSG00000158874 HGNC:601 APOC2 gene APOC2 Expert Review Green;Literature Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis 27840752;27297947 False 3 0;100;0 1.34 False ENSG00000234906 ENSG00000234906 HGNC:609 ELANE gene ELANE Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Periodic Fever Syndromes; Neutropenia, cyclic, 162800; Recurring fever and malaise 25019553;25912133;20301405 False 3 0;0;0 1.34 False ENSG00000197561 ENSG00000197561 HGNC:3309 FGA gene FGA Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, familial visceral, OMIM:105200 8097946 False 3 100;0;0 1.34 False ENSG00000171560 ENSG00000171560 HGNC:3661 GSN gene GSN Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyloidosis, Finnish type, OMIM:105120 2176164 False 3 100;0;0 1.34 False ENSG00000148180 ENSG00000148180 HGNC:4620 IL1RN gene IL1RN Expert Review Green;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, OMIM:612852 19494218 False 3 0;0;0 1.34 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL36RN gene IL36RN Expert Review Green;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Psoriasis 14, pustular, OMIM:614204;Recurrent flares of pustular rash with fever False 3 0;0;0 1.34 False ENSG00000136695 ENSG00000136695 HGNC:15561 LPIN2 gene LPIN2 Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Majeed syndrome, OMIM:609628 15994876; 17330256 False 3 0;0;0 1.34 False ENSG00000101577 ENSG00000101577 HGNC:14450 LYZ gene LYZ Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, renal, 105200; Familial Visceral Amyloidosis 8464497;20301373;16523055 False 3 100;0;0 1.34 False ENSG00000090382 ENSG00000090382 HGNC:6740 MEFV gene MEFV Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100;Neutrophilic dermatosis, acute febrile, OMIM:608068 9668175;10787449;21600797 False 3 100;0;0 1.34 False Other - please provide details in the comments ENSG00000103313 ENSG00000103313 HGNC:6998 MVK gene MVK Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377 False 3 100;0;0 1.34 False ENSG00000110921 ENSG00000110921 HGNC:7530 NLRP12 gene NLRP12 Eligibility statement prior genetic testing;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold autoinflammatory syndrome 2, OMIM:611762 27314497; 18230725; 21360512; 25327218; 24064030 False 3 0;0;0 1.34 False ENSG00000142405 ENSG00000142405 HGNC:22938 NLRP3 gene NLRP3 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CINCA syndrome, OMIM:607115;Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772;Familial cold inflammatory syndrome 1, OMIM:120100;Muckle-Wells syndrome, OMIM:191900 False 3 100;0;0 1.34 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 Expert Review Green;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Blau syndrome, OMIM:186580 11528384;20301405 False 3 100;0;0 1.34 False ENSG00000167207 ENSG00000167207 HGNC:5331 OSMR gene OSMR Expert Review Green;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, primary localized cutaneous, 1, 105250 18179886 False 3 100;0;0 1.34 False ENSG00000145623 ENSG00000145623 HGNC:8507 OTULIN gene OTULIN Expert Review Green;Literature Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099 PMID: 27523608;27559085 False 3 100;0;0 1.34 False ENSG00000154124 ENSG00000154124 HGNC:25118 PSMB8 gene PSMB8 Expert Review Green;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040;Autoinflammation, lipodystrophy, and dermatosis syndrome 20159315;21129723 False 3 100;0;0 1.34 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSTPIP1 gene PSTPIP1 Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416 1197187;20301405 False 3 0;0;0 1.34 False ENSG00000140368 ENSG00000140368 HGNC:9580 TNFRSF1A gene TNFRSF1A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, familial, OMIM:142680 10199409 False 3 100;0;0 1.34 False ENSG00000067182 ENSG00000067182 HGNC:11916 TTR gene TTR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Hereditary, Transthyretin-Related, 105210; Familial Transthyretin Amyloidosis 20301373;11385707;30878017;31131842;31118583;31111153;30120737 False 3 100;0;0 1.34 False ENSG00000118271 ENSG00000118271 HGNC:12405 APOC3 gene APOC3 Expert Review Amber;Literature Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis PMID: 26790392 False 2 0;100;0 1.34 False ENSG00000110245 ENSG00000110245 HGNC:610 TNFAIP3 gene TNFAIP3 Expert Review Amber;Literature Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744 26642243 False 2 100;0;0 1.34 False ENSG00000118503 ENSG00000118503 HGNC:11896 APP gene APP Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714 2111584 False 1 0;0;0 1.34 False ENSG00000142192 ENSG00000142192 HGNC:620 B2M gene B2M Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Amyloidosis, familial visceral 105200 22693999 False 1 0;0;100 1.34 False ENSG00000166710 ENSG00000166710 HGNC:914 CST3 gene CST3 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, OMIM:105150 3495457 False 1 100;0;0 1.34 False ENSG00000101439 ENSG00000101439 HGNC:2475 HTR1A gene HTR1A Expert Review Red;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, menstrual cycle dependent, 614674 False 1 0;0;0 1.34 False ENSG00000178394 ENSG00000178394 HGNC:5286 IL31RA gene IL31RA Expert Review Red;Radboud University Medical Center, Nijmegen Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, primary localized cutaneous, 2, 613955 19690585 False 1 0;0;100 1.34 False ENSG00000164509 ENSG00000164509 HGNC:18969 NLRC4 gene NLRC4 Expert Review Red;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation with infantile enterocolitis, OMIM:616050;?Familial cold autoinflammatory syndrome 4, OMIM:616115 25385754 False 1 0;0;100 1.34 False ENSG00000091106 ENSG00000091106 HGNC:16412 TRNT1 gene TRNT1 Expert Review Red;Other Periodic fever syndromes Multi-system inflammatory/autoimmune disorders Rheumatological disorders BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 False 1 0;0;0 1.34 False ENSG00000072756 ENSG00000072756 HGNC:17341