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
HAX1	gene	HAX1	Expert Review Green;Radboud University Medical Center, Nijmegen	Agranulocytosis	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Neutropenia, severe congenital 3, autosomal recessive, 610738						False	3	100;0;0	1.4	True		ENSG00000143575	ENSG00000143575	HGNC:16915													
TCN2	gene	TCN2	Expert Review Green;Literature	Agranulocytosis	Primary immunodeficiency disorders	Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	SCID;Congenital neutropaenia;Combined B and T cell defect;Agranulocytosis;A- or hypo-gammaglobulinaemia;Early onset pancytopenia and red cell disorders;Congenital anaemias;Inherited complement deficiency;intellectual disability;Transcobalamin II deficiency;can have a presentation similar to severe combined immunodeficiency;pancytopenia;neutropenic colitis;Agammaglobulinemia;megaloblastic bone marrow;thrombocytopenia;neutropenia;failure to thrive;hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.				PMID: 24305960; 7980584; 7849710; 20352340; 18956255		False	3	100;0;0	1.4	True		ENSG00000185339	ENSG00000185339	HGNC:11653