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
AP1S3	gene	AP1S3	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Autoinflammatory Disorders		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Psoriasis 15, pustular, susceptibility to} 616106				24791904;27388993		False	2	0;100;0	2.3	True		ENSG00000152056	ENSG00000152056	HGNC:18971													
CEBPE	gene	CEBPE	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 108 with autoinflammation , MIM#	260570"				PMID: 31201888		False	2	0;100;0	2.3	True	Other	ENSG00000092067	ENSG00000092067	HGNC:1836													
HCK	gene	HCK	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Autoinflammation with pulmonary and cutaneous vasculitis, MIM#620296				PMID: 34536415		False	2	0;100;0	2.3	True	Other	ENSG00000101336	ENSG00000101336	HGNC:4840													
PMVK	gene	PMVK	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Autoinflammatory syndrome, MONDO:0019751, PMVK-related				PMID: 37364720;36410683		False	2	0;100;0	2.3	False		ENSG00000163344	ENSG00000163344	HGNC:9141													
PSMA3	gene	PSMA3	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Autoinflammatory Disorders		Immunological disorders	Other	Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM#256040				26524591		False	2	0;100;0	2.3	True		ENSG00000100567	ENSG00000100567	HGNC:9532													
PSMB4	gene	PSMB4	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Autoinflammatory Disorders		Immunological disorders	Other	Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591				26524591		False	2	0;100;0	2.3	True		ENSG00000159377	ENSG00000159377	HGNC:9541													
PTPN2	gene	PTPN2	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lupus;arthritis;common variable immunodeficiency				32499645;27658548		False	2	0;100;0	2.3	True		ENSG00000175354	ENSG00000175354	HGNC:9650													
RC3H1	gene	RC3H1	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Relapsing HLH;Hemophagocytic lymphohistiocytosis, familial, 6, MIM#	618998"				31636267		False	2	0;100;0	2.3	True		ENSG00000135870	ENSG00000135870	HGNC:29434													
REXO2	gene	REXO2	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related				PMID: 39107301		False	2	0;100;0	2.3	True	Other	ENSG00000076043	ENSG00000076043	HGNC:17851													
RNF31	gene	RNF31	Expert Review;Expert Review Amber	Autoinflammatory Disorders		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 115 with autoinflammation, MIM# 620632				26008899;30936877		False	2	0;100;0	2.3	True		ENSG00000092098	ENSG00000092098	HGNC:16031													
SCGN	gene	SCGN	Expert Review Amber;Literature	Autoinflammatory Disorders		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	ulcerative colitis, MONDO:0005101				31663849		False	2	0;100;0	2.3	True		ENSG00000079689	ENSG00000079689	HGNC:16941