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
AP3D1	gene	AP3D1	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Severe neutropaenia;Recurrent infections;Neurodevelopmental delay;Seizures;Oculocutaneous albinism;Hermansky-Pudlak syndrome 10, MIM#617050;Hearing loss				26744459;9697856		False	1	0;0;0	0.4	False		ENSG00000065000	ENSG00000065000	HGNC:568													
ARHGEF1	gene	ARHGEF1	Expert Review Red;Literature	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 62, MIM#618459				30521495		False	1	0;0;0	0.4	False		ENSG00000076928	ENSG00000076928	HGNC:681													
CD247	gene	CD247	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Normal NK cells;Absent T cells;Normal B cells;Immunodeficiency 25, MIM#610163				16672702		False	1	0;0;0	0.4	False		ENSG00000198821	ENSG00000198821	HGNC:1677													
FAAP24	gene	FAAP24	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	EBV infection-driven lymphoproliferative disease				27473539		False	1	0;0;0	0.4	False		ENSG00000131944	ENSG00000131944	HGNC:28467													
HYOU1	gene	HYOU1	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 59 and hypoglycemia, MIM#233600				27913302		False	1	0;0;0	0.4	False		ENSG00000149428	ENSG00000149428	HGNC:16931													
IFNAR2	gene	IFNAR2	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency 45, MIM#616669				26424569		False	1	0;0;0	0.4	False		ENSG00000159110	ENSG00000159110	HGNC:5433													
IL12RB2	gene	IL12RB2	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to mycobacteria and Salmonella				30578351		False	1	0;0;0	0.4	False		ENSG00000081985	ENSG00000081985	HGNC:5972													
IL23R	gene	IL23R	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Susceptibility to mycobacteria and Salmonella				30578351		False	1	0;0;0	0.4	False		ENSG00000162594	ENSG00000162594	HGNC:19100													
IRAK1	gene	IRAK1	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Susceptibility to bacterial infections				28069966		False	1	0;0;0	0.4	False		ENSG00000184216	ENSG00000184216	HGNC:6112													
IRF2BP2	gene	IRF2BP2	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Immunodeficiency, common variable, 14, MIM#617765				27016798		False	1	0;0;0	0.4	False		ENSG00000168264	ENSG00000168264	HGNC:21729													
NOP10	gene	NOP10	Expert Review Red;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Dyskeratosis congenita, autosomal recessive 1, MIM#224230				17507419		False	1	0;0;0	0.4	False		ENSG00000182117	ENSG00000182117	HGNC:14378													
POLD2	gene	POLD2	Expert list	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				31449058		False	1	0;0;0	0.4	False		ENSG00000106628	ENSG00000106628	HGNC:9176													
POLE2	gene	POLE2	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Combined immunodeficiency;Facial dysmorphism;Hypoglobulinaemia;Autoimmunity;Recurrent infections, disseminated BCG infections;Lymphopaenia;Lack of TRECS, absent proliferation in response to antigens				26365386		False	1	0;0;0	0.4	False		ENSG00000100479	ENSG00000100479	HGNC:9178													
POLR3F	gene	POLR3F	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Severe VZV infection				30211253		False	1	0;0;0	0.4	False		ENSG00000132664	ENSG00000132664	HGNC:15763													
PSMG2	gene	PSMG2	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	CANDLE syndrome;Chronic atypical neutrophilic dermatitis with lipodystrophy				30664889		False	1	0;0;0	0.4	False		ENSG00000128789	ENSG00000128789	HGNC:24929													
REL	gene	REL	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	B cells: low, mostly naive, few switched memory B cells, impaired proliferation;Combined immunodeficiency;Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms;T cells: normal, decreased memory CD4, poor proliferation;Defective innate immunity				31103457		False	1	0;0;0	0.4	False		ENSG00000162924	ENSG00000162924	HGNC:9954													
SH3KBP1	gene	SH3KBP1	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Immunodeficiency 61, MIM#300310				21708930;29636373		False	1	0;0;0	0.4	False		ENSG00000147010	ENSG00000147010	HGNC:13867													
TIRAP	gene	TIRAP	Expert list;Expert Review Red	Immunological disorders_SuperPanel_PanelAppAustralia		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Staphylococcal disease during childhood				28235196		False	1	0;0;0	0.4	False		ENSG00000150455	ENSG00000150455	HGNC:17192