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
COL1A1	gene	COL1A1	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	114000 Caffey disease;130060 Ehlers-Danlos syndrome, arthrochalasia type, 1				27011056		False	2	33;67;0	4.6	False		ENSG00000108821	ENSG00000108821	HGNC:2197													
COL5A1	gene	COL5A1	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	130000 Ehlers-Danlos syndrome, classic type, 1				22696272;28485813;23587214		False	2	50;50;0	4.6	False		ENSG00000130635	ENSG00000130635	HGNC:2209													
COL5A2	gene	COL5A2	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	130010 Ehlers-Danlos syndrome, classic type, 2				15580559;:28485813;25987251		False	2	50;50;0	4.6	False		ENSG00000204262	ENSG00000204262	HGNC:2210													
EPHB2	gene	EPHB2	Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal					30213874		False	2	25;75;0	4.6	False		ENSG00000133216	ENSG00000133216	HGNC:3393													
F2R	gene	F2R	Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Bleeding and platelet disorders		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Type 1 VWD				26630678		False	2	40;60;0	4.6	False		ENSG00000181104	ENSG00000181104	HGNC:3537													
GALE	gene	GALE	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal	Inherited Thrombocytopenia assiciated with mutation of UDP-Galactose-4-Epimerase (GALE)				30247636		False	2	33;67;0	4.6	False		ENSG00000117308	ENSG00000117308	HGNC:4116													
HOXA11	gene	HOXA11	Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1				16765069;11101832		False	2	67;33;0	4.6	False		ENSG00000005073	ENSG00000005073	HGNC:5101													
MKL1	gene	MKL1	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					27479822		False	2	33;67;0	4.6	False		ENSG00000196588	ENSG00000196588	HGNC:14334													
P2RX1	gene	P2RX1	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Purinergic receptor P2X, ligand-gated ion channel, 1 DEFICIENCY				10816552		False	2	33;67;0	4.6	False		ENSG00000108405	ENSG00000108405	HGNC:8533													
PTPN11	gene	PTPN11	Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	163950 Noonan syndrome 1				none submitted		False	2	67;33;0	4.6	False		ENSG00000179295	ENSG00000179295	HGNC:9644													
PTPRJ	gene	PTPRJ	Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal					30591527		False	2	25;75;0	4.6	False		ENSG00000149177	ENSG00000149177	HGNC:9673													
RAP1B	gene	RAP1B	Expert Review;Expert Review Amber	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654;thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000				32627184;35451551;37850357		False	2	100;0;0	4.6	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000127314	ENSG00000127314	HGNC:9857													
RGS2	gene	RGS2	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal					20403096;28784619		False	2	33;67;0	4.6	False		ENSG00000116741	ENSG00000116741	HGNC:9998													
RNU4ATAC	gene	RNU4ATAC	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal	Roifman syndrome, OMIM:616651				none submitted		False	2	50;50;0	4.6	False		ENSG00000264229	ENSG00000264229	HGNC:34016													
SLC45A2	gene	SLC45A2	Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal	606574 Albinism, oculocutaneous, type IV				none submitted		False	2	25;75;0	4.6	False		ENSG00000164175	ENSG00000164175	HGNC:16472													
SMAD4	gene	SMAD4	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	hereditary hemorrhagic telangiectasia syndrome				25269631;24001356;30251589;16613914		False	2	33;33;33	4.6	False		ENSG00000141646	ENSG00000141646	HGNC:6770													
TRPM7	gene	TRPM7	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	macrothrombocytopenia				27020697		False	2	33;67;0	4.6	False		ENSG00000092439	ENSG00000092439	HGNC:17994													
UNC13D	gene	UNC13D	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Bleeding and platelet disorders		Haematology	BIALLELIC, autosomal or pseudoautosomal					28399723;28748566		False	2	33;67;0	4.6	False		ENSG00000092929	ENSG00000092929	HGNC:23147