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
ALPI	gene	ALPI	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory bowel disease				29567797		False	2	0;0;0	0.4	False		ENSG00000163295	ENSG00000163295	HGNC:437													
DEF6	gene	DEF6	Expert Review Amber;Literature	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Systemic autoimmunity				31308374		False	2	0;0;0	0.4	False		ENSG00000023892	ENSG00000023892	HGNC:2760													
ERBIN	gene	ERBIN	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Susceptibility to S.aureus;Scoliosis;Eczema;Arterial dilatation in some;Recurrent respiratory infections;Hyperextensible joints				28126831		False	2	0;0;0	0.4	False		ENSG00000112851	ENSG00000112851	HGNC:15842													
HMOX1	gene	HMOX1	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Asplenia;Heme oxygenase-1 deficiency, MIM#614034				21088618;20844238;9884342		False	2	0;0;0	0.4	False		ENSG00000100292	ENSG00000100292	HGNC:5013													
ICOSLG	gene	ICOSLG	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	neutropaenia;Combined immunodeficiency;recurrent bacterial and viral infections				31532372;30498080		False	2	0;0;0	0.4	False		ENSG00000160223	ENSG00000160223	HGNC:17087													
IFNAR1	gene	IFNAR1	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe disease caused by Yellow Fever vaccine and Measles vaccine				31270247		False	2	0;0;0	0.4	False		ENSG00000142166	ENSG00000142166	HGNC:5432													
IL6R	gene	IL6R	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	High circulating IL-6 levels;Recurrent pyogenic infections, cold abscesses;High IgE				31235509		False	2	0;0;0	0.4	False		ENSG00000160712	ENSG00000160712	HGNC:6019													
IRF3	gene	IRF3	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM#616532				20660188;26216125;26513235		False	2	0;0;0	0.4	False		ENSG00000126456	ENSG00000126456	HGNC:6118													
IRF9	gene	IRF9	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 65, susceptibility to viral infections, 618648				30143481;30826365		False	2	0;0;0	0.4	False		ENSG00000213928	ENSG00000213928	HGNC:6131													
JAK1	gene	JAK1	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to mycobacteria and viruses				30671064;28008925		False	2	0;0;0	0.4	False		ENSG00000162434	ENSG00000162434	HGNC:6190													
MKL1	gene	MKL1	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropaenia with combined immune deficiency				26224645;32128589		False	2	0;0;0	0.4	False		ENSG00000196588	ENSG00000196588	HGNC:14334													
NSMCE3	gene	NSMCE3	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241				27427983		False	2	0;0;0	0.4	False		ENSG00000185115	ENSG00000185115	HGNC:7677													
POLD1	gene	POLD1	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	short stature;intellectual disability;Low CD4 T cells;Low B cells, normal maturation;recurrent respiratory tract infections, skin infections, warts and molluscum				31629014		False	2	0;0;0	0.4	False		ENSG00000062822	ENSG00000062822	HGNC:9175													
POLR3A	gene	POLR3A	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Severe VZV infection				29728610;28783042		False	2	0;0;0	0.4	False		ENSG00000148606	ENSG00000148606	HGNC:30074													
POLR3C	gene	POLR3C	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Severe VZV infection				28783042		False	2	0;0;0	0.4	False		ENSG00000186141	ENSG00000186141	HGNC:30076													
RELA	gene	RELA	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	reduced production of inflammatory cytokines;autoimmune cytopaenias;Impaired NFkB activation;Mucocutaneous ulceration, chronic, MIM#618287				28600438;29305315		False	2	0;0;0	0.4	False		ENSG00000173039	ENSG00000173039	HGNC:9955													
RELB	gene	RELB	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 53, MIM#617585;T cells: normal number, poor diversity, poor function;recurrent infections				26385063;7834753		False	2	0;0;0	0.4	False		ENSG00000104856	ENSG00000104856	HGNC:9956													
SPPL2A	gene	SPPL2A	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to mycobacteria and Salmonella				30127434		False	2	0;0;0	0.4	False		ENSG00000138600	ENSG00000138600	HGNC:30227													
TFRC	gene	TFRC	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	thrombocytopaenia;recurrent infections, neutorpaenia;Immunodeficiency 46, MIM#616740;B cells: normal number, low memory B cells;T cells: normal number, poor proliferation				26642240		False	2	0;0;0	0.4	False		ENSG00000072274	ENSG00000072274	HGNC:11763													
TGFB1	gene	TGFB1	Expert list;Expert Review Amber	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM#618213				29483653		False	2	0;0;0	0.4	False		ENSG00000105329	ENSG00000105329	HGNC:11766