Immunological disorders_SuperPanel_PanelAppAustralia (Version 0.4)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 370 Entitiess
Green List (high evidence)	ACP5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes SLE, thrombocytopenia and autoimmune haemolytic anaemia Spondyloenchondrodysplasia with immune dysregulation, MIM#607944 Possibly recurrent bacterial and viral infections Short stature Tags
Green List (high evidence)	ACTB	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ADA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ADA2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ADAM17	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ADAR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 6, MIM#615010 Tags
Green List (high evidence)	AICDA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	AIRE	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags
Green List (high evidence)	AK2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	AP1S3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	AP3B1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	APOL1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ARPC1B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 Tags
Green List (high evidence)	ATM	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ATP6AP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Hepatopathy Leukopenia Immunodeficiency 47, MIM# 300972 Low copper Tags
Green List (high evidence)	B2M	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	BACH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes inflammatory bowel disease Immunodeficiency 60, MIM#618394 recurrent sinopulmonary infections Tags
Green List (high evidence)	BCL10	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	BCL11B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, MIM#618092 Immunodeficiency 49, MIM#617237 Tags
Green List (high evidence)	BLM	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	BLNK	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	BLOC1S6	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	BTK	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C17orf62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chronic granulomatous disease Tags
Green List (high evidence)	C1QA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1QB	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1QC	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1R	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C1S	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C4A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C4B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C5	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C6	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C7	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C8A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C8B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C8G	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	C9	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CARD11	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM#617638 Immunodeficiency 11A, autosomal recessive, MIM#615206 Tags
Green List (high evidence)	CARD14	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CARD9	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CARMIL2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 58, MIM#618131 Tags
Green List (high evidence)	CASP10	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CASP8	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CCBE1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD19	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD27	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferative syndrome 2, MIM#615122 Tags
Green List (high evidence)	CD3D	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD3E	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD3G	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD40	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 3, MIM#606843 Tags
Green List (high evidence)	CD40LG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD46	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD55	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM#226300 Tags
Green List (high evidence)	CD59	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD70	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferative syndrome 3, MIM#618261 Tags
Green List (high evidence)	CD79A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD79B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD81	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CD8A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CDCA7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#616910 Tags
Green List (high evidence)	CEBPE	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFB	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFD	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFH	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFHR1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFHR2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFHR3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFHR4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFHR5	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFI	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CFP	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CHD7	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CIB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Epidermodysplasia verruciformis 3618267 HPV infections and cancer of the skin Tags
Green List (high evidence)	CIITA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CLPB	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	COL7A1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COPA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CORO1A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CR2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CSF2RA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CSF3R	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CTLA4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CTPS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes EBV lymphoproliferation Immunodeficiency 24, MIM#615897 B-cell non-Hodgkin lymphoma Recurrent/chronic bacterial and viral infections (EBV, VZV) Tags
Green List (high evidence)	CTSC	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CXCR4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	CYBA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	CYBB	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	DBR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Viral infections of the brainstem Tags
Green List (high evidence)	DCLRE1B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	DCLRE1C	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	DKC1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	DNAJC21	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure syndrome 3, MIM#617052 Exocrine pancreatic insufficiency Shwachman-Diamond syndrome Short stature Pancytopaenia Tags
Green List (high evidence)	DNASE1L3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Systemic lupus erythematosus 16, MIM#614420 Tags
Green List (high evidence)	DNASE2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes liver fibrosis HLH Auto-inflammatory disorder splenomegaly glomerulonephritis arthritis Tags
Green List (high evidence)	DNMT3B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	DOCK2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	DOCK8	0 reviews	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	EFL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Shwachman-Diamond syndrome 2, MIM#617941 Tags
Green List (high evidence)	ELANE	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	EPCAM	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	EPG5	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ERCC2	0 reviews	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ERCC3	0 reviews	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ERCC6L2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure syndrome 2, MIM#615715 Tags
Green List (high evidence)	EXTL3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM#617425 Tags
Green List (high evidence)	F12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FADD	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FAS	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FASLG	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FAT4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Low/variable T and B cells Lymphangiectasia and lymphedema with facial abnormalities and other dysmorphic features Hennekam lymphangiectasia-lymphedema syndrome 2, MIM#616006 Tags
Green List (high evidence)	FCGR3A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FCHO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Increased activation-induced T-cell death B cells: normal number Combined immunodeficiency Defective clathrin-mediated endocytosis lymphoproliferation Recurrent infections (viral, mycobacteria, bacterial, fungal) Failure to thrive T cells: low, poor proliferation Tags
Green List (high evidence)	FCN3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FERMT1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FERMT3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FOXN1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FOXP3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	FPR1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	G6PC3	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	G6PD	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Hemolytic anemia, G6PD deficient (favism), MIM#300908 Tags
Green List (high evidence)	GATA2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	GFI1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	GINS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 55, MIM#617827 Tags
Green List (high evidence)	GTF2H5	0 reviews	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	GUCY2C	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HAVCR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes T-cell lymphoma, subcutaneous panniculitis-like, MIM#618398 Tags
Green List (high evidence)	HAX1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	HELLS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM#616911 Tags
Green List (high evidence)	HPS1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HPS4	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HPS6	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	HTRA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIII, MIM#617248 Tags
Green List (high evidence)	ICOS	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IFIH1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rhinovirus and other RNA viruses Severe viral respiratory infections Tags
Green List (high evidence)	IFNGR1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IFNGR2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IGHM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Agammaglobulinemia 1, MIM#601495 Tags
Green List (high evidence)	IGLL1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IKBKB	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 15A, autosomal dominant, MIM#618204 Immunodeficiency 15B, autosomal recessive, MIM#615592 Tags
Green List (high evidence)	IKBKG	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IKZF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Decreased pro-B cells Increased risk of ALL, autoimmunity Immunodeficiency, common variable, 13, MIM#616873 Recurrent sinopulmonary infections B cells and Ig levels reduce with age Low IgG, IgA, IgM, low or normal B cells Tags
Green List (high evidence)	IL10	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL10RA	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL10RB	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL12B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL12RB1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL17F	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL17RA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL17RC	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL1RN	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL21	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL21R	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL2RA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL2RB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM#618495 Tags
Green List (high evidence)	IL2RG	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL36RN	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IL6ST	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyper-IgE syndrome, autosomal dominant Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#618523 Tags
Green List (high evidence)	IL7R	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	INO80	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IRAK4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IRF7	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	IRF8	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ISG15	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ITCH	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ITGAM	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ITGB2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	ITK	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferative syndrome 1, MIM#613011 EBV associated B call lymphoproliferation, lymphoma Tags
Green List (high evidence)	JAGN1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	JAK3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	LAMTOR2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	LAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 52, MIM#617514 Tags
Green List (high evidence)	LCK	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	LIG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined immunodeficiency Macrocytosis Growth retardation Hypogammaglobulinaemia Recurrent bacterial and viral infections Sun sensitivity, radiation sensitivity Lymphopaenia Tags
Green List (high evidence)	LIG4	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	LPIN2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	LRBA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Recurrent infections Inflammatory bowel disease Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700 Autoimmunity EBV infections Tags
Green List (high evidence)	LYST	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MAGT1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, MIM#300853 Tags
Green List (high evidence)	MALT1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MAP3K14	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MASP2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MCM4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MEFV	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MOGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bacterial and viral infections Severe hypogammaglobulinaemia Severe neurologic disease Congenital disorder of glycosylation, type IIb, MIM#606056 Tags
Green List (high evidence)	MS4A1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MSN	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 50, MIM#300988 Tags
Green List (high evidence)	MTHFD1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MVK	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MYD88	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	MYSM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Bone marrow failure syndrome 4, MIM#618116 Tags
Green List (high evidence)	NBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nijmegen breakage syndrome, MIM#251260 Tags
Green List (high evidence)	NCF1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NCF2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	NCF4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NFAT5	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NFE2L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM#617744 Growth retardation White matter cerebral lesions Developmental delay, borderline ID Recurrent respiratory and skin infection Tags
Green List (high evidence)	NFKB1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NFKB2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NFKBIA	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NFKBID	0 reviews	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NHEJ1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NHP2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NLRC4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NLRP1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autoinflammation with arthritis and dyskeratosis, MIM#617388 Recurrent respiratory papillomatosis Palmoplantar carcinoma, multiple self-healing, 615225 Tags
Green List (high evidence)	NLRP12	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NLRP3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	NOD2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	OAS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes infantile-onset pulmonary alveolar proteinosis hypogammaglobulinemia Tags
Green List (high evidence)	ORAI1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	OTULIN	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PARN	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PAX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Otofaciocervical syndrome 2, MIM#615560 dysmorphism ear abnormalities Syndromic SCID Tags
Green List (high evidence)	PEPD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Prolidase deficiency, MIM#170100 Tags
Green List (high evidence)	PGM3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PIK3CD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 14, MIM#615513 Tags
Green List (high evidence)	PIK3R1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PLCG2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PMS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mismatch repair cancer syndrome, MIM#276300 Tags
Green List (high evidence)	PNP	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	POLA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM#301220 Tags
Green List (high evidence)	POLE	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PRF1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PRKCD	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSMA3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSMB4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSMB8	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSMB9	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PSTPIP1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	PTEN	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	PTPRC	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RAB27A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RAC2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes neutropaenia lymphoproliferation SCID Reduced Ab responses following vaccination recurrent bacterial and viral infections selective IgA deficiency deafness reticular dysgenesis Tags
Green List (high evidence)	RAG1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RAG2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RASGRP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 64, MIM#618534 Tags
Green List (high evidence)	RBCK1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RFX5	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RFXANK	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RFXAP	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RHOH	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RIPK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 57, MIM#618108 Tags
Green List (high evidence)	RMRP	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RNASEH2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 4, MIM#610333 Tags
Green List (high evidence)	RNASEH2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 2, MIM#610181 Tags
Green List (high evidence)	RNASEH2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 3, MIM#610329 Tags
Green List (high evidence)	RNF168	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RNF31	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RORC	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	RPSA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Asplenia, isolated congenital, MIM#271400 Tags
Green List (high evidence)	RTEL1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SAMD9	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SAMHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 5, MIM#612952 Tags
Green List (high evidence)	SBDS	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SEC61A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Severe recurrent respiratory tract infections Hypogammaglobulinaemia Hyperuricemic nephropathy, familial juvenile, 4, MIM#617056 Tags
Green List (high evidence)	SEMA3E	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SERPING1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SH2D1A	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SH3BP2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SKIV2L	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Facial dysmorphic features Platelet abnormalities IUGR Early-onset intractable diarrhoea Trichohepatoenteric syndrome 2, MIM#614602 Wooly hair Respiratory infections Liver cirrhosis Tags
Green List (high evidence)	SLC29A3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC35C1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC37A4	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC39A7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes thrombocytopaenia Antibody deficiency blistering dermatosis early onset infections failure to thrive Tags
Green List (high evidence)	SLC46A1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SLC7A7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lysinuric protein intolerance, MIM#222700 Hyper-inflammatory response of macrophages Bleeding tendency Alverolar proteinosis Normal NK cell function Lysinuric protein intolerance Tags
Green List (high evidence)	SMARCAL1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SMARCD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental abnormalities in some Neutropaenia Specific granule deficiency 2, MIM#617475 Myelodysplasia Tags
Green List (high evidence)	SP110	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SPINK5	0 reviews	Unknown	Sources Australian Genomics Health Alliance Immunology Flagship Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	SRP54	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM#618752 Tags
Green List (high evidence)	STAT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Predisposition to Mucocutaneous Candidiasis Immunodeficiency 31C, autosomal dominant, MIM#614162 Tags
Green List (high evidence)	STAT2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	STAT3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	STAT5B	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity with immunodeficiency, MIM#245590 Tags
Green List (high evidence)	STIM1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	STK4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	STX11	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	STXBP2	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	TAP1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TAP2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TAPBP	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TAZ	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TBK1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TBX1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TCF3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TCN2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TERC	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TERT	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TGFBR1	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	THBD	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TICAM1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TINF2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TLR3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMC6	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMC8	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TMEM173	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes STING-associated vasculopathy, infantile-onset, MIM#615934 Tags
Green List (high evidence)	TNFAIP3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TNFRSF13B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TNFRSF13C	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TNFRSF1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Periodic fever, familial, MIM#142680 Tags
Green List (high evidence)	TNFRSF4	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TNFRSF9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes EBV lymphoproliferation Chronic active EBV infection B-cell lymphoma Tags
Green List (high evidence)	TNFSF12	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TOP2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Facial dysmorphism Antibody deficiency Recurrent infections Limb anomalies Tags
Green List (high evidence)	TPP1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TPP2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TRAC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Tags
Green List (high evidence)	TRAF3	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TRAF3IP2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TREX1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive225750 {Systemic lupus erythematosus, susceptibility to}152700 Tags
Green List (high evidence)	TRIM22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Inflammatory bowel disease Tags
Green List (high evidence)	TRNT1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	TTC37	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Facial dysmorphic features Platelet abnormalities IUGR Respiratory infections Trichohepatoenteric syndrome 1, MIM#222470 Liver cirrhosis Wooly hair:Early-onset intractable diarrhoea Tags
Green List (high evidence)	TTC7A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Tags
Green List (high evidence)	TYK2	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	UNC13D	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	UNC93B1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	UNG	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	USB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Poikiloderma with neutropenia (OMIM #604173) Tags
Green List (high evidence)	USP18	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pseudo-TORCH syndrome 2, MIM#617397 Tags
Green List (high evidence)	VPS13B	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	VPS45	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	WAS	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	WDR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Poor wound healing Neutropaenia Severe stomatitis Neutrophil nuclei herniate Tags
Green List (high evidence)	WIPF1	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	XIAP	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ZAP70	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006 Immunodeficiency 48, MIM# 269840 Tags
Green List (high evidence)	ZBTB24	0 reviews	Unknown	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Tags
Green List (high evidence)	ZNF341	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM#618282 Mild facial dysmorphism Recurrent respiratory infections, lung abscesses and pneumothoraces Early onset eczema Hyperextensible joints, bone fractures, retention of primary teeth Recurrent bacterial skin infections, abscesses Tags
Amber List (moderate evidence)	ALPI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Inflammatory bowel disease Tags
Amber List (moderate evidence)	DEF6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Systemic autoimmunity Tags
Amber List (moderate evidence)	ERBIN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Susceptibility to S.aureus Scoliosis Eczema Arterial dilatation in some Recurrent respiratory infections Hyperextensible joints Tags
Amber List (moderate evidence)	HMOX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Asplenia Heme oxygenase-1 deficiency, MIM#614034 Tags
Amber List (moderate evidence)	ICOSLG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes neutropaenia Combined immunodeficiency recurrent bacterial and viral infections Tags
Amber List (moderate evidence)	IFNAR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Severe disease caused by Yellow Fever vaccine and Measles vaccine Tags
Amber List (moderate evidence)	IL6R	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes High circulating IL-6 levels Recurrent pyogenic infections, cold abscesses High IgE Tags
Amber List (moderate evidence)	IRF3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, MIM#616532 Tags
Amber List (moderate evidence)	IRF9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 65, susceptibility to viral infections, 618648 Tags
Amber List (moderate evidence)	JAK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Susceptibility to mycobacteria and viruses Tags
Amber List (moderate evidence)	MKL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Neutropaenia with combined immune deficiency Tags
Amber List (moderate evidence)	NSMCE3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241 Tags
Amber List (moderate evidence)	POLD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes short stature intellectual disability Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum Tags
Amber List (moderate evidence)	POLR3A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Severe VZV infection Tags
Amber List (moderate evidence)	POLR3C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Severe VZV infection Tags
Amber List (moderate evidence)	RELA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes reduced production of inflammatory cytokines autoimmune cytopaenias Impaired NFkB activation Mucocutaneous ulceration, chronic, MIM#618287 Tags
Amber List (moderate evidence)	RELB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 53, MIM#617585 T cells: normal number, poor diversity, poor function recurrent infections Tags
Amber List (moderate evidence)	SPPL2A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Susceptibility to mycobacteria and Salmonella Tags
Amber List (moderate evidence)	TFRC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes thrombocytopaenia recurrent infections, neutorpaenia Immunodeficiency 46, MIM#616740 B cells: normal number, low memory B cells T cells: normal number, poor proliferation Tags
Amber List (moderate evidence)	TGFB1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM#618213 Tags
Red List (low evidence)	AP3D1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Severe neutropaenia Recurrent infections Neurodevelopmental delay Seizures Oculocutaneous albinism Hermansky-Pudlak syndrome 10, MIM#617050 Hearing loss Tags
Red List (low evidence)	ARHGEF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Immunodeficiency 62, MIM#618459 Tags
Red List (low evidence)	CD247	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Normal NK cells Absent T cells Normal B cells Immunodeficiency 25, MIM#610163 Tags
Red List (low evidence)	FAAP24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes EBV infection-driven lymphoproliferative disease Tags
Red List (low evidence)	HYOU1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 59 and hypoglycemia, MIM#233600 Tags
Red List (low evidence)	IFNAR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 45, MIM#616669 Tags
Red List (low evidence)	IL12RB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Susceptibility to mycobacteria and Salmonella Tags
Red List (low evidence)	IL23R	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Susceptibility to mycobacteria and Salmonella Tags
Red List (low evidence)	IRAK1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Susceptibility to bacterial infections Tags
Red List (low evidence)	IRF2BP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Immunodeficiency, common variable, 14, MIM#617765 Tags
Red List (low evidence)	NOP10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Tags
Red List (low evidence)	POLD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Phenotypes short stature intellectual disability Low CD4 T cells Low B cells, normal maturation recurrent respiratory tract infections, skin infections, warts and molluscum Tags
Red List (low evidence)	POLE2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined immunodeficiency Facial dysmorphism Hypoglobulinaemia Autoimmunity Recurrent infections, disseminated BCG infections Lymphopaenia Lack of TRECS, absent proliferation in response to antigens Tags
Red List (low evidence)	POLR3F	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Severe VZV infection Tags
Red List (low evidence)	PSMG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes CANDLE syndrome Chronic atypical neutrophilic dermatitis with lipodystrophy Tags
Red List (low evidence)	REL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes 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 Tags
Red List (low evidence)	SH3KBP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Immunodeficiency 61, MIM#300310 Tags
Red List (low evidence)	TIRAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Staphylococcal disease during childhood Tags

Immunological disorders_SuperPanel_PanelAppAustralia (Version 0.4)

2 reviewers

370 Entities

2 reviewed, 332 green

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