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
ADA2	gene	ADA2	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688				24552285;29564582;27059682;24552284;26922074;27444081		False	3	100;0;0	2.39	False		ENSG00000093072	ENSG00000093072	HGNC:1839													
ALPK1	gene	ALPK1	Expert list;Expert Review Green;Literature;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	ROSAH syndrome, OMIM:614979				30967659;35868845;36332842;38251500;40069099		False	3	100;0;0	2.39	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000073331	ENSG00000073331	HGNC:20917													
CARD14	gene	CARD14	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Psoriasis 2, OMIM:602723;Pityriasis rubra pilaris, OMIM:173200				29980436;22521418;22703878;29704870;23648549;23067081;29689250;23711932;30248356		False	3	100;0;0	2.39	False		ENSG00000141527	ENSG00000141527	HGNC:16446													
COPA	gene	COPA	Expert Review Green;Literature;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Autoinflammation and autoimmunity, systemic, with immune dysregulation}, OMIM:616414;COPA syndrome				25894502;31455335;38175705		False	3	100;0;0	2.39	False		ENSG00000122218	ENSG00000122218	HGNC:2230													
ELF4	gene	ELF4	Expert list;Expert Review Green;Literature;NHS GMS	Autoinflammatory disorders		Immunology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Autoinflammatory syndrome, familial, X-linked, Behcet-like 2, OMIM:301074				34326534;35266071;36823308;38231408;38773005;39563044;39976696		False	3	100;0;0	2.39	False		ENSG00000102034	ENSG00000102034	HGNC:3319													
IKBKG	gene	IKBKG	Expert Review Green;NHS GMS;Other	Autoinflammatory disorders		Immunology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Autoinflammatory disease, systemic, X-linked, OMIM:301081				35120036;35289316;20133626;21722947;35163099;39264518;31874111		False	3	100;0;0	2.39	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000073009	ENSG00000269335	HGNC:5961													
IL1RN	gene	IL1RN	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Interleukin 1 receptor antagonist deficiency, OMIM:612852				22127713;19494219;19494218		False	3	100;0;0	2.39	False		ENSG00000136689	ENSG00000136689	HGNC:6000													
IL36RN	gene	IL36RN	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Psoriasis 14, pustular, OMIM:614204				23698098;21839423;21848462;23303454;22903787		False	3	100;0;0	2.39	False		ENSG00000136695	ENSG00000136695	HGNC:15561													
LPIN2	gene	LPIN2	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Majeed syndrome, OMIM:609628				17330256;27860302;15994876;29387759		False	3	100;0;0	2.39	False		ENSG00000101577	ENSG00000101577	HGNC:14450													
MEFV	gene	MEFV	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Familial Mediterranean fever, AR, OMIM:249100;Neutrophilic dermatosis, acute febrile, OMIM:608068;Familial Mediterranean fever, AD, OMIM:134610				27030597;9288094;28835462;14679589;9288758;10787449		False	3	100;0;0	2.39	False		ENSG00000103313	ENSG00000103313	HGNC:6998													
MVK	gene	MVK	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Mevalonic aciduria, OMIM:610377;Hyper-IgD syndrome, OMIM:260920				21708801;16435210;22038276;10369261;19011501		False	3	100;0;0	2.39	False		ENSG00000110921	ENSG00000110921	HGNC:7530													
NLRC4	gene	NLRC4	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autoinflammation with infantile enterocolitis, OMIM:616050;?Familial cold autoinflammatory syndrome 4, OMIM:616115				27876626;25217959;25385754;25217960		False	3	100;0;0	2.39	False		ENSG00000091106	ENSG00000091106	HGNC:16412													
NLRP12	gene	NLRP12	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial cold autoinflammatory syndrome 2, OMIM:611762				21360512;27779193;27633793;29178652;18230725;29248470		False	3	100;0;0	2.39	False		ENSG00000142405	ENSG00000142405	HGNC:22938													
NLRP3	gene	NLRP3	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Deafness, autosomal dominant 34, with or without inflammation, OMIM:617772;Familial cold inflammatory syndrome 1, OMIM:120100;Muckle-Wells syndrome, OMIM:191900;CINCA syndrome, OMIM:607115				11687797;18423104;11992256;14872505;29366613;11590390;12032915;12522564;28847925		False	3	100;0;0	2.39	False		ENSG00000162711	ENSG00000162711	HGNC:16400													
NOD2	gene	NOD2	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Inflammatory bowel disease 1, Crohn disease}, OMIM:266600;Blau syndrome, OMIM:186580;{Yao syndrome}, OMIM:617321				11385576;25136265;19479837;25416713;21914217;26070941		False	3	100;0;0	2.39	False		ENSG00000167207	ENSG00000167207	HGNC:5331													
OTULIN	gene	OTULIN	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099				27559085;27523608		False	3	100;0;0	2.39	False		ENSG00000154124	ENSG00000154124	HGNC:25118													
PLCG2	gene	PLCG2	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878;Familial cold autoinflammatory syndrome 3, OMIM:614468				29538758;22236196;23000145;25760457		False	3	100;0;0	2.39	False		ENSG00000197943	ENSG00000197943	HGNC:9066													
POMP	gene	POMP	ClinGen;Expert Review;Expert Review Green;Literature;NHS GMS;Research	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Proteasome-associated autoinflammatory syndrome 2, OMIM:618048				38111302;29805043;26524591		False	3	100;0;0	2.39	False		ENSG00000132963	ENSG00000132963	HGNC:20330													
PSMB4	gene	PSMB4	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome);Proteasome-associated autoinflammatory syndrome 3 and digenic forms, OMIM:617591				34416217;26524591		False	3	100;0;0	2.39	False		ENSG00000159377	ENSG00000159377	HGNC:9541													
PSMB8	gene	PSMB8	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040				21852578;21953331;20534754;20159315;21881205;21129723		False	3	100;0;0	2.39	False		ENSG00000204264	ENSG00000204264	HGNC:9545													
PSMB9	gene	PSMB9	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome);Proteasome-associated autoinflammatory syndrome 3, digenic, OMIM:617591				26524591;33727065;34819510		False	3	100;0;0	2.39	False		ENSG00000240065	ENSG00000240065	HGNC:9546													
PSTPIP1	gene	PSTPIP1	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416				29575118;28960754;28251506;26025129;9212761;21532836;28628471;22161697		False	3	100;0;0	2.39	False		ENSG00000140368	ENSG00000140368	HGNC:9580													
RBCK1	gene	RBCK1	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895				23798481;610924;23104095;29260357		False	3	100;0;0	2.39	False		ENSG00000125826	ENSG00000125826	HGNC:15864													
RELA	gene	RELA	Expert list;Expert Review;Expert Review Green;Literature;NHS GMS;Research	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoinflammatory disease, familial, Behcet-like-3, OMIM:618287				36926348;32969189;35412596;28600438;29305315		False	3	100;0;0	2.39	False		ENSG00000173039	ENSG00000173039	HGNC:9955													
RIPK1	gene	RIPK1	Expert list;Expert Review;Expert Review Green;Literature;NHS GMS;Research	Autoinflammatory disorders		Immunology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852;Immunodeficiency 57 with autoinflammation, OMIM: 618108				30026316;31827280;31827281;31911632;35716229;35786329;39557292		False	3	100;0;0	2.39	False		ENSG00000137275	ENSG00000137275	HGNC:10019													
SH3BP2	gene	SH3BP2	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cherubism, OMIM:118400				25705883;25220465;26152156;25470448;32825821		False	3	100;0;0	2.39	False		ENSG00000087266	ENSG00000087266	HGNC:10825													
SLC29A3	gene	SLC29A3	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782				22238637;18940313;20619369;20140240;19336477;16650224;23530176;22653152;16118898;22875837;21888995;19175903;21178579		False	3	100;0;0	2.39	False		ENSG00000198246	ENSG00000198246	HGNC:23096													
TBK1	gene	TBK1	Expert list;Expert Review;Expert Review Green;Literature;NHS GMS	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Autoinflammation with arthritis and vasculitis, OMIM:620880				28148298;34210994;34363755		False	3	100;0;0	2.39	False		ENSG00000183735	ENSG00000183735	HGNC:11584													
TMEM173	gene	TMEM173	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	STING-associated vasculopathy, infantile-onset, OMIM:615934				25401470;29491158;29425920;30705050;25029335;29976662		False	3	100;0;0	2.39	False		ENSG00000184584	ENSG00000184584	HGNC:27962													
TNFAIP3	gene	TNFAIP3	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Autoinflammatory syndrome, familial, Behcet-like, OMIM:616744				29317407;29572183;27845235;28659290;31164164;26642243		False	3	100;0;0	2.39	False		ENSG00000118503	ENSG00000118503	HGNC:11896													
TNFRSF1A	gene	TNFRSF1A	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Periodic fever, familial, OMIM:142680				10199409;10902757;23965844;12209523;17360963;11175303;11115159		False	3	100;0;0	2.39	False		ENSG00000067182	ENSG00000067182	HGNC:11916													
UBA1	gene	UBA1	Expert Review Green;NHS GMS	Autoinflammatory disorders		Immunology	Other	VEXAS syndrome, somatic, OMIM:301054				33108101;36823397;34048852;34213531;34340250;33930131;34802547;37501758;37223371;36692560;33789873;33779074;33690815;34077651;34196684		False	3	100;0;0	2.39	False	Other	ENSG00000130985	ENSG00000130985	HGNC:12469													
IL17RA	gene	IL17RA	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 51, OMIM:613953				32098966		False	2	100;0;0	2.39	False		ENSG00000177663	ENSG00000177663	HGNC:5985													
ITCH	gene	ITCH	Expert Review Amber;Other	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385;syndromic multisystem autoimmune disease due to ITCH deficiency, MONDO:0013245				18727493;20170897;30705142;31091003;33894394;36338154		False	2	100;0;0	2.39	False		ENSG00000078747	ENSG00000078747	HGNC:13890													
OGFRL1	gene	OGFRL1	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Cherubism				38699440		False	2	0;100;0	2.39	False		ENSG00000119900	ENSG00000119900	HGNC:21378													
PRF1	gene	PRF1	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Hemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553				32098966;24753205;22248322;28468610;27269180		False	2	0;0;0	2.39	False		ENSG00000180644	ENSG00000180644	HGNC:9360													
PSMB10	gene	PSMB10	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Immunodeficiency 121 with autoinflammation, OMIM:620807;Proteasome-associated autoinflammatory syndrome 5, OMIM:619175				31783057;36250618;37600812;38503300;39734035		False	2	100;0;0	2.39	False		ENSG00000205220	ENSG00000205220	HGNC:9538													
PTPN1	gene	PTPN1	Expert Review Amber;Literature	Autoinflammatory disorders		Immunology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Encephalopathy, HP:0001298;dystonia, early-onset, and/or spastic paraplegia, MONDO:0859215				10066179;39986310		False	2	100;0;0	2.39	False		ENSG00000196396	ENSG00000196396	HGNC:9642													
ADA	gene	ADA	Expert Review Red;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency due to ADA deficiency, OMIM:102700;Adenosine deaminase deficiency, partial, OMIM:102700				32098966		False	1	100;0;0	2.39	False		ENSG00000196839	ENSG00000196839	HGNC:186													
GP6	gene	GP6	Expert Review;Expert Review Red;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 11, OMIM:614201				32098966		False	1	100;0;0	2.39	False		ENSG00000088053	ENSG00000088053	HGNC:14388													
SEC23B	gene	SEC23B	Expert Review Red;Literature	Autoinflammatory disorders		Immunology	BIALLELIC, autosomal or pseudoautosomal	Dyserythropoietic anemia, congenital, type II, OMIM:224100				32098966		False	1	100;0;0	2.39	False		ENSG00000101310	ENSG00000101310	HGNC:10702