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
FBN2	gene	FBN2	Expert Review Red;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Contractural arachnodactyly, congenital 121050;Macular degeneration, early-onset 616118			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977			False	1	50;0;50	1.52	True		ENSG00000138829	ENSG00000138829	HGNC:3604													
KIF15	gene	KIF15	Expert Review Red;Literature	Bleeding and Platelet Disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Braddock-Carey syndrome 2 - MIM#619981			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	28150392		False	1	0;100;0	1.52	True		ENSG00000163808	ENSG00000163808	HGNC:17273													
MAST2	gene	MAST2	Expert Review Red;Literature	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombophilia;venous thrombosis			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	PMID: 33465109		False	1	0;0;100	1.52	True		ENSG00000086015	ENSG00000086015	HGNC:19035													
PIGA	gene	PIGA	Expert list;Expert Review Red	Bleeding and Platelet Disorders		Haematological disorders	Unknown	"Paroxysmal nocturnal hemoglobinuria, somatic, MIM#	300818"			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	PMID: 9019395;PMID: 28516949		False	1	0;0;100	1.52	True		ENSG00000165195	ENSG00000165195	HGNC:8957													
PRKACG	gene	PRKACG	Expert list;Expert Review Red	Bleeding and Platelet Disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Bleeding disorder, platelet-type, 19, MIM# 616176			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	25061177;30819905		False	1	0;0;100	1.52	True		ENSG00000165059	ENSG00000165059	HGNC:9382													
TLN1	gene	TLN1	Expert Review Red;Literature	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	thrombocytopenia, MONDO:0002049, TLN1-related			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	35861643		False	1	0;0;100	1.52	True		ENSG00000137076	ENSG00000137076	HGNC:11845