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
CXCR4	gene	CXCR4	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"WHIM syndrome	193670;Myelokathexis, isolated"				12692554;15536153		False	3	100;0;0	1.24	True		ENSG00000121966	ENSG00000121966	HGNC:2561													
ELANE	gene	ELANE	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Neutropenia, cyclic, 162800; Neutropenia, severe congenital 1, autosomal dominant,	202700"						False	3	100;0;0	1.24	True		ENSG00000197561	ENSG00000197561	HGNC:3309													
G6PC3	gene	G6PC3	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 4, autosomal recessive, 612541; Dursun syndrome, 612541; Severe Congenital Neutropenia						False	3	100;0;0	1.24	True		ENSG00000141349	ENSG00000141349	HGNC:24861													
GFI1	gene	GFI1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Neutropenia, nonimmune chronic idiopathic, of adults	607847;  Severe congenital 2, autosomal dominant, 613107"						False	3	100;0;0	1.24	True		ENSG00000162676	ENSG00000162676	HGNC:4237													
HAX1	gene	HAX1	Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 3, autosomal recessive, 610738;Severe congenital neutropenia						False	3	100;0;0	1.24	True		ENSG00000143575	ENSG00000143575	HGNC:16915													
HTRA2	gene	HTRA2	Expert Review Green;Literature	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"3-methylglutaconic aciduria, type VIII	617248"				27208207; 27696117		False	3	100;0;0	1.24	False		ENSG00000115317	ENSG00000115317	HGNC:14348													
SBDS	gene	SBDS	Expert list;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Shwachman-Diamond syndrome, 260400				12496757;11342425;14749921		False	3	100;0;0	1.24	True		ENSG00000126524	ENSG00000126524	HGNC:19440													
SLC37A4	gene	SLC37A4	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Glycogen storage disease Ib	232220"				12576310; 9428641; 10482962		False	3	100;0;0	1.24	True		ENSG00000137700	ENSG00000137700	HGNC:4061													
TAZ	gene	TAZ	Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Barth syndrome (CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA;3-METHYLGLUTACONIC ACIDURIA, TYPE II) 302060						False	3	100;0;0	1.24	True		ENSG00000102125	ENSG00000102125	HGNC:11577													
TCN2	gene	TCN2	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Transcobalamin II deficiency	275350"				PMID: 24305960;7980584;7849710;20352340;18956254 ;PMID: 24305960;7980584;7849710;20352340;18956254 		False	3	100;0;0	1.24	True		ENSG00000185339	ENSG00000185339	HGNC:11653													
VPS13B	gene	VPS13B	Expert Review Green;Literature	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Cohen syndrome  216550 						False	3	100;0;0	1.24	True		ENSG00000132549	ENSG00000132549	HGNC:2183													
VPS45	gene	VPS45	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Neutropenia, severe congenital, 5, autosomal recessive,	615285"				23738510; 23599270		False	3	100;0;0	1.24	True		ENSG00000136631	ENSG00000136631	HGNC:14579													
WAS	gene	WAS	Expert Review Green;Literature;Radboud University Medical Center, Nijmegen	Congenital neutropaenia	Primary immunodeficiency disorders	Haematological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Neutropenia, severe congenital, X-linked, 300299				11242115;16804117		False	3	100;0;0	1.24	True		ENSG00000015285	ENSG00000015285	HGNC:12731