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
ACTB	gene	ACTB	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Phagocyte Defects		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Baraitser-Winter syndrome 1, MIM# 243310			Unusual infection;HP:0032101			False	2	0;100;0	1.33	True		ENSG00000075624	ENSG00000075624	HGNC:132													
LAMTOR2	gene	LAMTOR2	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Phagocyte Defects		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798			Unusual infection;HP:0032101	17195838;24092934		False	2	0;100;0	1.33	True		ENSG00000116586	ENSG00000116586	HGNC:29796													
MKL1	gene	MKL1	Expert list;Expert Review Amber	Phagocyte Defects		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropaenia with combined immune deficiency			Unusual infection;HP:0032101	32128589;26224645		False	2	0;100;0	1.33	True		ENSG00000196588	ENSG00000196588	HGNC:14334													
SRP19	gene	SRP19	Expert Review Amber;Literature	Phagocyte Defects		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, MONDO:0001475, SRP19-related			Unusual infection;HP:0032101	PMID: 36223592		False	2	0;50;50	1.33	True		ENSG00000153037	ENSG00000153037	HGNC:11300													
SRP68	gene	SRP68	Expert list;Expert Review Amber	Phagocyte Defects		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	"Neutropenia, severe congenital, 10, autosomal recessive, MIM# 	620534"			Unusual infection;HP:0032101	32273475		False	2	0;100;0	1.33	True		ENSG00000167881	ENSG00000167881	HGNC:11302													
SRPRA	gene	SRPRA	Expert Review Amber;Literature	Phagocyte Defects		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Schwachman-Diamond syndrome MONDO:0009833, SRPA-related			Unusual infection;HP:0032101	PMID: 36223592		False	2	0;50;50	1.33	True		ENSG00000182934	ENSG00000182934	HGNC:11307													
TCIRG1	gene	TCIRG1	Expert Review;Expert Review Amber	Phagocyte Defects		Immunological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	severe congenital neutropenia, MONDO:0018542			Unusual infection;HP:0032101	24753205;35573728		False	2	0;100;0	1.33	True		ENSG00000110719	ENSG00000110719	HGNC:11647													
WIPF1	gene	WIPF1	Expert Review Amber;Melbourne Genomics Health Alliance Immunology Flagship;Victorian Clinical Genetics Services	Phagocyte Defects		Immunological disorders	BIALLELIC, autosomal or pseudoautosomal	Wiskott-Aldrich syndrome 2, MIM# 614493			Unusual infection;HP:0032101	17312144;17890224		False	2	0;100;0	1.33	True		ENSG00000115935	ENSG00000115935	HGNC:12736