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
CRACR2A	gene	CRACR2A	Expert Review Red;Literature	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated;late onset combined immunodeficiency			Combined immunodeficiency;HP:0005387	PMID:34908525		False	1	0;0;100	1.114	True		ENSG00000130038	ENSG00000130038	HGNC:28657													
DCLRE1B	gene	DCLRE1B	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	Unknown	Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome			Combined immunodeficiency;HP:0005387	20479256;21647296		False	1	0;0;100	1.114	True		ENSG00000118655	ENSG00000118655	HGNC:17641													
GINS4	gene	GINS4	Expert list;Expert Review Red	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	combined immunodeficiency MONDO:0015131			Combined immunodeficiency;HP:0005387	36345943		False	1	0;0;100	1.114	True		ENSG00000147536	ENSG00000147536	HGNC:28226													
IL21	gene	IL21	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	Unknown	Immunodeficiency, common variable, 11, MIM# 615767			Combined immunodeficiency;HP:0005387	24746753		False	1	0;0;100	1.114	True		ENSG00000138684	ENSG00000138684	HGNC:6005													
NFKBID	gene	NFKBID	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	Unknown				Combined immunodeficiency;HP:0005387	26973645;25347393;22761313		False	1	0;0;100	1.114	True		ENSG00000167604	ENSG00000167604	HGNC:15671													
NOP10	gene	NOP10	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 1, MIM#224230			Combined immunodeficiency;HP:0005387	17507419		False	1	0;0;100	1.114	True		ENSG00000182117	ENSG00000182117	HGNC:14378													
POLE2	gene	POLE2	Expert list;Expert Review Red	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Combined immunodeficiency;Lymphopaenia;Lack of TRECS, absent proliferation in response to antigens;Hypoglobulinaemia;Recurrent infections, disseminated BCG infections;Autoimmunity;Facial dysmorphism			Combined immunodeficiency;HP:0005387	26365386		False	1	0;0;100	1.114	True		ENSG00000100479	ENSG00000100479	HGNC:9178													
RGS10	gene	RGS10	Expert Review Red;Literature	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency;short stature			Combined immunodeficiency;HP:0005387	34315806;34339853		False	1	0;0;100	1.114	True		ENSG00000148908	ENSG00000148908	HGNC:9992													
SEMA3E	gene	SEMA3E	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, MIM# 214800			Combined immunodeficiency;HP:0005387	15235037;28634005		False	1	0;0;100	1.114	True		ENSG00000170381	ENSG00000170381	HGNC:10727													
TKFC	gene	TKFC	Expert Review Red;Literature	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inborn error of immunity, MONDO:0003778, TKFC-related			Combined immunodeficiency;HP:0005387	38697782		False	1	0;0;100	1.114	True		ENSG00000149476	ENSG00000149476	HGNC:24552													
TNFRSF4	gene	TNFRSF4	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 16, MIM# 615593			Combined immunodeficiency;HP:0005387	23897980		False	1	0;0;100	1.114	True		ENSG00000186827	ENSG00000186827	HGNC:11918													
TOM1	gene	TOM1	Expert list;Expert Review Red	Combined Immunodeficiency		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Immunodeficiency 85 and autoimmunity, MIM#	619510"			Combined immunodeficiency;HP:0005387	31263572		False	1	0;0;100	1.114	True		ENSG00000100284	ENSG00000100284	HGNC:11982													
TPP1	gene	TPP1	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Combined Immunodeficiency		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Hoyeraal-Hreidarsson syndrome			Combined immunodeficiency;HP:0005387	25233904		False	1	0;0;100	1.114	True		ENSG00000166340	ENSG00000166340	HGNC:2073													
UNC119	gene	UNC119	Expert list;Expert Review Red	Combined Immunodeficiency		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Immunodeficiency 13 MIM#615518			Combined immunodeficiency;HP:0005387	22184408		False	1	0;0;100	1.114	True		ENSG00000109103	ENSG00000109103	HGNC:12565