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
ADA	gene	ADA	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency due to ADA deficiency, MIM# 102700;MONDO:0007064			Severe combined immunodeficiency;HP:0004430	3007108;3475710;8178821;8227344;2783588		False	3	100;0;0	1.13	True		ENSG00000196839	ENSG00000196839	HGNC:186													
AK2	gene	AK2	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Reticular dysgenesis MIM# 267500;MONDO:0009973;Combined immunodeficiency;neutropaenia;leukopaenia;lymphopaenia;agranulocytosis;deafness			Severe combined immunodeficiency;HP:0004430	19043417;19043416;33628209		False	3	100;0;0	1.13	True		ENSG00000004455	ENSG00000004455	HGNC:362													
DCLRE1C	gene	DCLRE1C	Expert list;Expert Review Green	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225			Severe combined immunodeficiency;HP:0004430	12055248, 34220820, 11336668, 19953608, 15731174, 16540517, 18034425, 12504013, 15699179		False	3	100;0;0	1.13	True		ENSG00000152457	ENSG00000152457	HGNC:17642													
LIG1	gene	LIG1	Expert Review Green;Literature	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 96, MIM# 619774			Severe combined immunodeficiency;HP:0004430	PMID: 33025376;PMID: 36341401		False	3	100;0;0	1.13	True		ENSG00000105486	ENSG00000105486	HGNC:6598													
LIG4	gene	LIG4	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	LIG4 syndrome MIM# 606593;T-/B-lymphocytopaenia;Normal NK, radiation sensitivity;Microcephaly;absent/low B and T cells;low Ig;raised IgM;failure to thrive;bacterial/viral/fungal infections;hypogammaglobulinaemia;neurodevelopmental delay;microcephaly;pancytopaenia			Severe combined immunodeficiency;HP:0004430	27717373;10911993		False	3	100;0;0	1.13	True		ENSG00000174405	ENSG00000174405	HGNC:6601													
NHEJ1	gene	NHEJ1	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;MONDO:0012650			Severe combined immunodeficiency;HP:0004430	16439204;16439205		False	3	100;0;0	1.13	True		ENSG00000187736	ENSG00000187736	HGNC:25737													
NUDCD3	gene	NUDCD3	Expert Review Green;Literature	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency;omenn syndrome			Severe combined immunodeficiency;HP:0004430	PMID: 38787962		False	3	100;0;0	1.13	True		ENSG00000015676	ENSG00000015676	HGNC:22208													
PRKDC	gene	PRKDC	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966;Absent T and B cells;normal NK cells;SCID;recurrent respiratory infections;microcephaly;seizures;developmental delay			Severe combined immunodeficiency;HP:0004430	19075392;23722905		False	3	100;0;0	1.13	True		ENSG00000253729	ENSG00000253729	HGNC:9413													
RAC2	gene	RAC2	Expert list;Expert Review Green	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	SCID;recurrent bacterial and viral infections;lymphoproliferation;neutropaenia;reticular dysgenesis;deafness			Severe combined immunodeficiency;HP:0004430	32198141;31919089;31382036;31071452;30723080;30654050		False	3	100;0;0	1.13	True	Other	ENSG00000128340	ENSG00000128340	HGNC:9802													
RAG1	gene	RAG1	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Recombinase activating gene 1 deficiency MONDO:0000572			Severe combined immunodeficiency;HP:0004430	26689875;26186701		False	3	100;0;0	1.13	True		ENSG00000166349	ENSG00000166349	HGNC:9831													
RAG2	gene	RAG2	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T absent B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Recombinase activating gene 2 deficiency MONDO:0000573			Severe combined immunodeficiency;HP:0004430	26996199		False	3	100;0;0	1.13	True		ENSG00000175097	ENSG00000175097	HGNC:9832