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
FCGR3A	gene	FCGR3A	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 20, MIM# 615707			Unusual infections;HP:0032101	8874200;23006327;8608639		False	2	0;100;0	1.39	True		ENSG00000203747	ENSG00000203747	HGNC:3619													
GCC2	gene	GCC2	Expert Review Amber;Literature	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inborn error of immunity, MONDO:0003778, GCC2-related			Unusual infections;HP:0032101	39813120		False	2	0;100;0	1.39	True		ENSG00000135968	ENSG00000135968	HGNC:23218													
IFNG	gene	IFNG	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	inherited susceptibility to mycobacterial diseases MONDO:0019146			Unusual infections;HP:0032101	32163377;38363432		False	2	0;100;0	1.39	True		ENSG00000111537	ENSG00000111537	HGNC:5438													
IKBKE	gene	IKBKE	Expert list;Expert Review Amber;Literature	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Encephalitis, acute, infection-induced, susceptibility to, MONDO:0800174, IKBKE-related			Unusual infections;HP:0032101	37937644		False	2	0;100;0	1.39	True		-	-	HGNC:14552													
IL18BP	gene	IL18BP	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	{Hepatitis, fulminant viral, susceptibility to} 618549			Unusual infections;HP:0032101	31213488;41334112		False	2	0;100;0	1.39	True		ENSG00000137496	ENSG00000137496	HGNC:5987													
IRF3	gene	IRF3	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	encephalitis, acute, infection-induced, susceptibility to MONDO:0800174			Unusual infections;HP:0032101	20660188;32972995;38665565;33386334;41065760;26216125;26513235		False	2	0;100;0	1.39	False		ENSG00000126456	ENSG00000126456	HGNC:6118													
IRF9	gene	IRF9	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	immunodeficiency 65, susceptibility to viral infections MONDO:0032848			Unusual infections;HP:0032101	30826365;30143481		False	2	0;100;0	1.39	False		ENSG00000213928	ENSG00000213928	HGNC:6131													
JAK1	gene	JAK1	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to mycobacteria and viruses;Viral infections;Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999			Unusual infections;HP:0032101	28008925;30671064		False	2	0;100;0	1.39	True		ENSG00000162434	ENSG00000162434	HGNC:6190													
MAPK8	gene	MAPK8	Expert list;Expert Review Amber;Literature	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Chronic mucocutaneous candidiasis;Connective tissue disorders			Unusual infections;HP:0032101	31784499		False	2	0;100;0	1.39	True		ENSG00000107643	ENSG00000107643	HGNC:6881													
POLR3A	gene	POLR3A	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	varicella zoster infection MONDO:0005608			Unusual infections;HP:0032101	28783042;29728610		False	2	0;100;0	1.39	False		ENSG00000148606	ENSG00000148606	HGNC:30074													
POLR3C	gene	POLR3C	Expert list;Expert Review Amber	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	varicella zoster infection MONDO:0005608			Unusual infections;HP:0032101	28783042		False	2	0;100;0	1.39	False		ENSG00000186141	ENSG00000186141	HGNC:30076													
RIPK3	gene	RIPK3	Expert list;Expert Review Amber;Literature	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related			Unusual infections;HP:0032101	37083451		False	2	0;100;0	1.39	False		ENSG00000129465	ENSG00000129465	HGNC:10021													
RNASEL	gene	RNASEL	Expert list;Expert Review Amber;Literature	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Multisystem inflammatory syndrome, MONDO:0035375, RNASEL-related			Unusual infections;HP:0032101	36538032;9351818		False	2	0;100;0	1.39	True		ENSG00000135828	ENSG00000135828	HGNC:10050													
TBX21	gene	TBX21	Expert Review Amber;Literature	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 88, MIM# 619630;Susceptibility to mycobacterial disease			Unusual infections;HP:0032101	PMID: 33296702;PMID: 34160550		False	2	0;100;0	1.39	True		ENSG00000073861	ENSG00000073861	HGNC:11599													
UNC93B1	gene	UNC93B1	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1			Unusual infections;HP:0032101	16973841;29768176		False	2	0;100;0	1.39	True		ENSG00000110057	ENSG00000110057	HGNC:13481