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
CASP8	gene	CASP8	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Autoimmune lymphoproliferative syndrome, type IIB MIM#607271			Immune dysregulation;HP:0002958	12353035;25814141;12654726;17213198;16148088		False	2	0;50;50	1.5	True		ENSG00000064012	ENSG00000064012	HGNC:1509													
CD274	gene	CD274	Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immune dysregulation, autoimmunity and auto inflammation, MONDO:0957790			Immune dysregulation;HP:0002958	PMID: 38634869		False	2	0;100;0	1.5	True		ENSG00000120217	ENSG00000120217	HGNC:17635													
DOCK2	gene	DOCK2	Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services	Disorders of immune dysregulation		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Genetic hemophagocytic lymphohistiocytosis MONDO:0015541			Immune dysregulation;HP:0002958	PMID: 36836791		False	2	50;50;0	1.5	True		ENSG00000134516	ENSG00000134516	HGNC:2988													
FGL2	gene	FGL2	Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Autoinflammatory syndrome, MONDO:0019751, FGL2-related			Immune dysregulation;HP:0002958	PMID: 36243222		False	2	0;50;50	1.5	True		ENSG00000127951	ENSG00000127951	HGNC:3696													
GATA3	gene	GATA3	Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Immune dysregulation;Hypoparathyroidism, sensorineural deafness, and renal dysplasia MIM#146255			Immune dysregulation;HP:0002958	PMID: 31238969		False	2	0;100;0	1.5	True	Other	ENSG00000107485	ENSG00000107485	HGNC:4172													
IL27RA	gene	IL27RA	Expert list;Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Epstein-Barr virus infection MONDO:0005111 , IL27RA-related			Immune dysregulation;HP:0002958	38509369		False	2	0;100;0	1.5	True		ENSG00000104998	ENSG00000104998	HGNC:17290													
ITGAV	gene	ITGAV	Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Syndromic disease, MONDO:0002254, ITGAV-related			Immune dysregulation;HP:0002958	39526957		False	2	0;100;0	1.5	True		ENSG00000138448	ENSG00000138448	HGNC:6150													
MADD	gene	MADD	Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	HLH, enteropathy			Immune dysregulation;HP:0002958	PMID: 36206192		False	2	50;50;0	1.5	True		ENSG00000110514	ENSG00000110514	HGNC:6766													
NFAT5	gene	NFAT5	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Disorders of immune dysregulation		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immune deficiency disease, MONDO:0003778, NFAT5-related;Recurrent infections;Autoimmune enterocolopathy;EBV susceptibility;HLH			Immune dysregulation;HP:0002958	25667416;36238298		False	2	0;50;50	1.5	True		ENSG00000102908	ENSG00000102908	HGNC:7774													
NFATC2	gene	NFATC2	Expert list;Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related			Immune dysregulation;HP:0002958	35789258;38427060		False	2	0;33;67	1.5	True		ENSG00000101096	ENSG00000101096	HGNC:7776													
P2RY8	gene	P2RY8	Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Systemic lupus erythematosus, MONDO:0007915, P2RY8-related			Immune dysregulation;HP:0002958	34889940		False	2	50;50;0	1.5	True		ENSG00000182162	ENSG00000182162	HGNC:15524													
PLCG1	gene	PLCG1	Expert Review;Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immune dysregulation, autoimmunity, and autoinflammation, MIM# 620514			Immune dysregulation;HP:0002958	PMID: 37422272		False	2	0;100;0	1.5	True	Other	ENSG00000124181	ENSG00000124181	HGNC:9065													
RHOG	gene	RHOG	Expert Review Amber;Literature	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Genetic HLH, MONDO:0015541, RHOG-related			Immune dysregulation;HP:0002958	PMID: 33513601		False	2	0;50;50	1.5	True		ENSG00000177105	ENSG00000177105	HGNC:672													
TGFB1	gene	TGFB1	Expert list;Expert Review Amber	Disorders of immune dysregulation		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM#	618213"			Immune dysregulation;HP:0002958	29483653		False	2	0;100;0	1.5	True		ENSG00000105329	ENSG00000105329	HGNC:11766