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
APOL1	gene	APOL1	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551			Unusual infections;HP:0032101			False	1	0;0;100	1.19	True		ENSG00000100342	ENSG00000100342	HGNC:618													
ATG4A	gene	ATG4A	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	infectious meningitis MONDO:0004796			Unusual infections;HP:0032101	33310865		False	1	0;0;100	1.19	True		ENSG00000101844	ENSG00000101844	HGNC:16489													
CASP4	gene	CASP4	Expert Review Red;Literature	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Hereditary susceptibility to infection, MONDO:0015979, CASP4-related;Susceptibility to meliodiosis			Unusual infections;HP:0032101	PMID: 37647624		False	1	0;0;100	1.19	True		ENSG00000196954	ENSG00000196954	HGNC:1505													
GTF3A	gene	GTF3A	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	herpes simplex encephalitis MONDO:0012521			Unusual infections;HP:0032101	36399538		False	1	0;0;100	1.19	True		ENSG00000122034	ENSG00000122034	HGNC:4662													
IL12RB2	gene	IL12RB2	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to mycobacteria and Salmonella			Unusual infections;HP:0032101	30578351		False	1	0;0;100	1.19	True		ENSG00000081985	ENSG00000081985	HGNC:5972													
IL17F	gene	IL17F	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Candidiasis, familial, 6, autosomal dominant, MIM# 613956			Unusual infections;HP:0032101	21350122		False	1	0;0;100	1.19	False		ENSG00000112116	ENSG00000112116	HGNC:16404													
IL18BP	gene	IL18BP	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	{?Hepatitis, fulminant viral, susceptibility to} 618549			Unusual infections;HP:0032101	31213488		False	1	0;0;100	1.19	False		ENSG00000137496	ENSG00000137496	HGNC:5987													
IRAK1	gene	IRAK1	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Susceptibility to bacterial infections			Unusual infections;HP:0032101	28069966		False	1	0;0;100	1.19	True		ENSG00000184216	ENSG00000184216	HGNC:6112													
IRAK2	gene	IRAK2	Expert Review Red;Literature	Defects of intrinsic and innate immunity		Immunological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Immune dysregulation, MONDO:0957790, IRAK2-related			Unusual infections;HP:0032101	PMID: 39299377		False	1	0;0;100	1.19	True		ENSG00000134070	ENSG00000134070	HGNC:6113													
LY96	gene	LY96	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inborn error of immunity, MONDO:0003778, LY96-related			Unusual infections;HP:0032101	36462957		False	1	0;0;100	1.19	True		ENSG00000154589	ENSG00000154589	HGNC:17156													
MAP1LC3B2	gene	MAP1LC3B2	Expert Review Red;Other	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hereditary susceptibility to infection, MONDO:0015979, MAP1LC3B2 -related;Mollaret s meningitis (recurrent lymphocytic meningitis) due to HSV2			Unusual infections;HP:0032101	35748970;33310865		False	1	0;0;100	1.19	True		ENSG00000258102	ENSG00000258102	HGNC:34390													
NOS2	gene	NOS2	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	inborn error of immunity MONDO:0003778			Unusual infections;HP:0032101	31995689		False	1	0;0;100	1.19	False		ENSG00000007171	ENSG00000007171	HGNC:7873													
OAS1	gene	OAS1	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Multisystem inflammatory syndrome in children and adults MONDO:0035375			Unusual infections;HP:0032101	36538032		False	1	0;0;100	1.19	True		ENSG00000089127	ENSG00000089127	HGNC:8086													
POLR3F	gene	POLR3F	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872			Unusual infections;HP:0032101	30211253		False	1	0;0;100	1.19	False		ENSG00000132664	ENSG00000132664	HGNC:15763													
TIRAP	gene	TIRAP	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Staphylococcal disease during childhood			Unusual infections;HP:0032101	28235196		False	1	0;0;100	1.19	True		ENSG00000150455	ENSG00000150455	HGNC:17192													
TLR4	gene	TLR4	Expert list;Expert Review Red	Defects of intrinsic and innate immunity		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory bowel disease MONDO:0005265			Unusual infections;HP:0032101	32042729;31442584		False	1	0;0;100	1.19	True		ENSG00000136869	ENSG00000136869	HGNC:11850													
TRAF3	gene	TRAF3	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Defects of intrinsic and innate immunity		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849			Unusual infections;HP:0032101	20832341		False	1	0;0;100	1.19	True		ENSG00000131323	ENSG00000131323	HGNC:12033