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
APOLD1	gene	APOLD1	Expert Review Amber;Literature	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bleeding disorder, vascular-type (MIM#620715)			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	35638551		False	2	0;100;0	1.52	True		ENSG00000178878	ENSG00000178878	HGNC:25268													
COL5A1	gene	COL5A1	Expert Review Amber;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, classic type, MIM# 130000			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977			False	2	0;100;0	1.52	True		ENSG00000130635	ENSG00000130635	HGNC:2209													
COL5A2	gene	COL5A2	Expert Review Amber;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Ehlers-Danlos syndrome, classic type, 2, MIM# 130010			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977			False	2	0;100;0	1.52	True		ENSG00000204262	ENSG00000204262	HGNC:2210													
EPHB2	gene	EPHB2	Expert list;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	"Bleeding disorder, platelet-type, 22, MIM#	618462"			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	30213874;25370417		False	2	0;100;0	1.52	True		ENSG00000133216	ENSG00000133216	HGNC:3393													
FOXE3	gene	FOXE3	Expert Review Amber;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic 11, susceptibility to, MIM# 617349			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	30071989		False	2	50;50;0	1.52	True		ENSG00000186790	ENSG00000186790	HGNC:3808													
HOXA11	gene	HOXA11	Expert list;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MM#	605432"			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	11101832;16765069		False	2	0;100;0	1.52	True		ENSG00000005073	ENSG00000005073	HGNC:5101													
KLKB1	gene	KLKB1	Expert Review;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Fletcher factor (prekallikrein) deficiency, MIM# 612423			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	15461630;33073460		False	2	0;100;0	1.52	True		ENSG00000164344	ENSG00000164344	HGNC:6371													
MAT2A	gene	MAT2A	Expert Review Amber;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thoracic aortic aneurysm			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	30071989;25557781		False	2	0;100;0	1.52	True		ENSG00000168906	ENSG00000168906	HGNC:6904													
MFAP5	gene	MFAP5	Expert Review Amber;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Aortic aneurysm, familial thoracic MIM# 616166;MONDO:0014514			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	25434006;30763214		False	2	0;100;0	1.52	True		ENSG00000197614	ENSG00000197614	HGNC:29673													
PLG	gene	PLG	Expert Review;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Plasminogen deficiency, type I;Dysplasminogenemia;MIM#217090			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	35244080;27976734		False	2	0;100;0	1.52	False		ENSG00000122194	ENSG00000122194	HGNC:9071													
PTGS1	gene	PTGS1	Expert list;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Platelet dysfunction;bleeding			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	32299908;11442478;27629384;8562397		False	2	0;100;0	1.52	True		ENSG00000095303	ENSG00000095303	HGNC:9604													
PTPRJ	gene	PTPRJ	Expert list;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	BIALLELIC, autosomal or pseudoautosomal	Thrombocytopenia 10, MIM# 620484			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	30591527		False	2	0;100;0	1.52	True		ENSG00000149177	ENSG00000149177	HGNC:9673													
TBXA2R	gene	TBXA2R	Expert Review Amber;Victorian Clinical Genetics Services	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	7929844;19828703;22517902		False	2	0;100;0	1.52	True		ENSG00000006638	ENSG00000006638	HGNC:11608													
TUBA8	gene	TUBA8	Expert list;Expert Review Amber	Bleeding and Platelet Disorders		Haematological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Macrothrombocytopaenia, isolated, 2, autosomal dominant, MIM# 619840			Abnormal bleeding;HP:0001892;Abnormal thrombosis;HP:0001977	34704371		False	2	0;100;0	1.52	True		ENSG00000183785	ENSG00000183785	HGNC:12410