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
ADAMTS13	gene	ADAMTS13	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BIALLELIC, autosomal or pseudoautosomal	Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150						False	3	83;17;0	2.10	False		ENSG00000160323	ENSG00000160323	HGNC:1366													
F2	gene	F2	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	188050 Thrombophilia due to thrombin defect;613679 Hypoprothrombinemia;613679 Dysprothrombinemia;613679 Factor II deficiency						False	3	80;20;0	2.10	False		ENSG00000180210	ENSG00000180210	HGNC:3535													
F5	gene	F5	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	227400 Factor V deficiency;188055 {Thrombophilia, susceptibility to, due to factor V Leiden};188055 Thrombophilia due to activated protein C resistance						False	3	80;20;0	2.10	False		ENSG00000198734	ENSG00000198734	HGNC:3542													
FGA	gene	FGA	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	202400 Afibrinogenemia, congenital;105200 Amyloidosis, familial visceral;616004 Dysfibrinogenemia, congenital;616004 Hypodysfibrinogenemia, congenital						False	3	80;20;0	2.10	False		ENSG00000171560	ENSG00000171560	HGNC:3661													
FGB	gene	FGB	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Afibrinogenemia, congenital, OMIM:202400;Hypofibrinogenemia, congenital, OMIM:202400;Dysfibrinogenemia, congenital, OMIM:616004;Thrombophilia, MONDO:0002305						False	3	80;20;0	2.10	False		ENSG00000171564	ENSG00000171564	HGNC:3662													
FGG	gene	FGG	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Afibrinogenemia, congenital, OMIM:202400;Hypofibrinogenemia, congenital, OMIM:202400;Dysfibrinogenemia, congenital, OMIM:616004;Hypodysfibrinogenemia, OMIM:616004;Thrombophilia, MONDO:0002305						False	3	80;20;0	2.10	False		ENSG00000171557	ENSG00000171557	HGNC:3694													
HRG	gene	HRG	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombophilia due to HRG deficiency, OMIM:613116						False	3	80;20;0	2.10	False		ENSG00000113905	ENSG00000113905	HGNC:5181													
PIGA	gene	PIGA	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	300818 Paroxysmal nocturnal hemoglobinuria, somatic						False	3	80;20;0	2.10	False		ENSG00000165195	ENSG00000165195	HGNC:8957													
PROC	gene	PROC	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304;Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860						False	3	80;20;0	2.10	False		ENSG00000115718	ENSG00000115718	HGNC:9451													
PROS1	gene	PROS1	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thrombophilia due to protein S deficiency, autosomal dominant, OMIM:612336;Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514						False	3	80;20;0	2.10	False		ENSG00000184500	ENSG00000184500	HGNC:9456													
SERPINC1	gene	SERPINC1	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Thrombophilia due to antithrombin III deficiency, OMIM:613118						False	3	80;20;0	2.10	False		ENSG00000117601	ENSG00000117601	HGNC:775													
SERPIND1	gene	SERPIND1	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombophilia due to heparin cofactor II deficiency, OMIM:612356						False	3	80;20;0	2.10	False		ENSG00000099937	ENSG00000099937	HGNC:4838													
SERPINE1	gene	SERPINE1	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	613329 Plasminogen activator inhibitor-1 deficiency						False	3	80;20;0	2.10	False		ENSG00000106366	ENSG00000106366	HGNC:8583													
THBD	gene	THBD	Expert Review Green;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Thrombophilia with a likely monogenic cause		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombophilia due to thrombomodulin defect, OMIM:614486						False	3	80;20;0	2.10	False		ENSG00000178726	ENSG00000178726	HGNC:11784