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
CD247	gene	CD247	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 25, MIM# 610163;Absent T cells;Normal B cells;Normal NK cells			Severe combined immunodeficiency;HP:0004430	16672702		False	3	100;0;0	1.9	True		ENSG00000198821	ENSG00000198821	HGNC:1677													
CD3D	gene	CD3D	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 19 MIM# 615617			Severe combined immunodeficiency;HP:0004430	14602880;15546002;21926461;21883749		False	3	100;0;0	1.9	True		ENSG00000167286	ENSG00000167286	HGNC:1673													
CD3E	gene	CD3E	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 18 MIM# 615615			Severe combined immunodeficiency;HP:0004430	15546002;28597365;8490660		False	3	100;0;0	1.9	True		ENSG00000198851	ENSG00000198851	HGNC:1674													
CORO1A	gene	CORO1A	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 8, MIM# 615401			Severe combined immunodeficiency;HP:0004430	25073507;2352248;18836449		False	3	100;0;0	1.9	True		ENSG00000102879	ENSG00000102879	HGNC:2252													
FOXN1	gene	FOXN1	Expert list;Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705;T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806			Severe combined immunodeficiency;HP:0004430	31447097;18339010;10206641;32048120		False	3	100;0;0	1.9	True		ENSG00000109101	ENSG00000109101	HGNC:12765													
IL2RG	gene	IL2RG	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Combined immunodeficiency, X-linked, moderate MIM# 312863;Severe combined immunodeficiency, X-linked MIM# 300400;recurrent viral/fungal/bacterial infections;Low T/NK cells;Low Ig levels;lymphocytopaenia;hypogammaglobulinaemia;failure to thrive;diarrhoea;Pneumonia;Thymic hypoplasia			Severe combined immunodeficiency;HP:0004430	20301584;8462096;8401490;7883965;9399950		False	3	100;0;0	1.9	True		ENSG00000147168	ENSG00000147168	HGNC:6010													
IL7R	gene	IL7R	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	severe combined immunodeficiency 104 MIM#608971			Severe combined immunodeficiency;HP:0004430	9843216;19890784;26123418;11023514;7964471		False	3	100;0;0	1.9	True		ENSG00000168685	ENSG00000168685	HGNC:6024													
JAK3	gene	JAK3	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	SCID, autosomal recessive, T-negative/B-positive type MIM# 600802			Severe combined immunodeficiency;HP:0004430	14615376;11668610		False	3	100;0;0	1.9	True		ENSG00000105639	ENSG00000105639	HGNC:6193													
LAT	gene	LAT	Expert list;Expert Review Green	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 52, MIM#	617514"			Severe combined immunodeficiency;HP:0004430	27522155;27242165;10204488		False	3	100;0;0	1.9	True		ENSG00000213658	ENSG00000213658	HGNC:18874													
PAX1	gene	PAX1	Expert Review Green;Literature	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Syndromic SCID;dysmorphism;ear abnormalities;Otofaciocervical syndrome 2, MIM#	615560"			Severe combined immunodeficiency;HP:0004430	32111619		False	3	100;0;0	1.9	True		ENSG00000125813	ENSG00000125813	HGNC:8615													
POLD3	gene	POLD3	Expert Review Green;Literature	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 122, MIM# 620869			Severe combined immunodeficiency;HP:0004430	37030525;36395985;27524497;38099988		False	3	50;50;0	1.9	True		ENSG00000077514	ENSG00000077514	HGNC:20932													
PTPRC	gene	PTPRC	Expert Review Green;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971;Hepatitis C virus, susceptibility to MIM# 609532			Severe combined immunodeficiency;HP:0004430	11145714;12073144;22689986;10700239		False	3	100;0;0	1.9	True		ENSG00000081237	ENSG00000081237	HGNC:9666													
TP63	gene	TP63	Expert Review Green;Literature	Severe Combined Immunodeficiency (absent T present B cells)		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, MIM# 604292;lymphopaenia			Severe combined immunodeficiency;HP:0004430	doi: 10.3389/fimmu.2024.1438383		False	3	100;0;0	1.9	True		ENSG00000073282	ENSG00000073282	HGNC:15979