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
ADA2	gene	ADA2	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome	MIM#615688"				39060684;29271561;30692987;34721429		False	3	100;0;0	1.0	True		ENSG00000093072	ENSG00000093072	HGNC:1839													
CASP10	gene	CASP10	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoimmune lymphoproliferative syndrome, type II MIM#603909				34329798;34384744;20301287		False	3	100;0;0	1.0	True		ENSG00000003400	ENSG00000003400	HGNC:1500													
CTLA4	gene	CTLA4	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100;autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493				39060684;38302222		False	3	100;0;0	1.0	True		ENSG00000163599	ENSG00000163599	HGNC:2505													
FADD	gene	FADD	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	FADD-related immunodeficiency MONDO:0013408				21109225;25794656;32350755;32971525		False	3	100;0;0	1.0	True		ENSG00000168040	ENSG00000168040	HGNC:3573													
FAS	gene	FAS	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	"Autoimmune lymphoproliferative syndrome, type IA	MIM#601859"						False	3	100;0;0	1.0	True		ENSG00000026103	ENSG00000026103	HGNC:11920													
FASLG	gene	FASLG	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Autoimmune lymphoproliferative syndrome, type IB	MIM#601859"				16627752;17605793;19794494;8787672;22857792;33356695;26334989;25451160		False	3	100;0;0	1.0	False		ENSG00000117560	ENSG00000117560	HGNC:11936													
ITK	gene	ITK	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Lymphoproliferative syndrome 1	MIM#613011"				19425169;22289921;25061172;26056787;9311799;10213685		False	3	100;0;0	1.0	True		ENSG00000113263	ENSG00000113263	HGNC:6171													
KRAS	gene	KRAS	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"RAS-associated autoimmune leukoproliferative disorder	MIM#614470"				27577878;39060684;21079152		False	3	100;0;0	1.0	True		ENSG00000133703	ENSG00000133703	HGNC:6407													
LRBA	gene	LRBA	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency, common variable, 8, with autoimmunity	MIM#614700"				38302222;25931386		False	3	100;0;0	1.0	True		ENSG00000198589	ENSG00000198589	HGNC:1742													
MAGT1	gene	MAGT1	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia	MIM#300853"				39060684;25956530;34447369		False	3	100;0;0	1.0	True		ENSG00000102158	ENSG00000102158	HGNC:28880													
NRAS	gene	NRAS	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	autoimmune lymphoproliferative syndrome type 4 MONDO:0013767				39060684;17517660;33011939		False	3	100;0;0	1.0	True		ENSG00000213281	ENSG00000213281	HGNC:7989													
PRKCD	gene	PRKCD	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Autoimmune lymphoproliferative syndrome, type III	MIM#615559"				37794137		False	3	100;0;0	1.0	True		ENSG00000163932	ENSG00000163932	HGNC:9399													
STAT3	gene	STAT3	Expert Review Green;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Autoimmune disease, multisystem, infantile-onset, 1	MIM#615952;STAT3-related early-onset multisystem autoimmune disease MONDO:0014414"				36228738		False	3	100;0;0	1.0	True		ENSG00000168610	ENSG00000168610	HGNC:11364													
CASP8	gene	CASP8	Expert Review Amber;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Autoimmune lymphoproliferative syndrome, type IIB  MIM#607271				12353035;25814141;12654726;17213198;16148088		False	2	0;100;0	1.0	True		ENSG00000064012	ENSG00000064012	HGNC:1509													
RASGRP1	gene	RASGRP1	Expert Review Amber;Literature	Autoimmune Lymphoproliferative Syndrome		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 64	MIM#618534"				29155103;39752212		False	2	0;100;0	1.0	True		ENSG00000172575	ENSG00000172575	HGNC:9878