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
BPGM	gene	BPGM	Expert Review Green;Literature;NHS GMS	Hereditary Erythrocytosis		Haematology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Erythrocytosis, familial, 8, OMIM:222800				1421379;15054810;25015942;27651169;29790589;33216349		False	3	100;0;0	2.17	False		ENSG00000172331	ENSG00000172331	HGNC:1093													
EGLN1	gene	EGLN1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Erythrocytosis, familial, 3, OMIM:609820				27651169;27774468;23869443;19092153;16407130;17579185		False	3	100;0;0	2.17	False		ENSG00000135766	ENSG00000135766	HGNC:1232													
EPAS1	gene	EPAS1	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Erythrocytosis, familial, 4, OMIM:611783				27651169;27774468;22367913;18650473;18184961;18378852		False	3	100;0;0	2.17	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000116016	ENSG00000116016	HGNC:3374													
EPO	gene	EPO	Expert Review Green;Literature	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Erythrocytosis, familial, 5, OMIM:617907				27651169		False	3	0;0;100	2.17	False		ENSG00000130427	ENSG00000130427	HGNC:3415													
EPOR	gene	EPOR	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Other	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	[Erythrocytosis, familial, 1], OMIM:133100				27774468;23859443;18492694;8506290;11929803		False	3	100;0;0	2.17	False		ENSG00000187266	ENSG00000187266	HGNC:3416													
HBA1	gene	HBA1	Expert Review Green;Literature	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Erythrocytosis 7, OMIM:617981				22274579;26852627;27240426;25669128;19734427;23388674;15921161		False	3	0;0;0	2.17	False		ENSG00000206172	ENSG00000206172	HGNC:4823													
HBA2	gene	HBA2	Expert Review Green;Radboud University Medical Center, Nijmegen	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Erythrocytosis 7, OMIM:617981				26852627;27240426;25669128;2227935;11186265;1988759;1592116;19734427;23388674		False	3	0;0;0	2.17	False		ENSG00000188536	ENSG00000188536	HGNC:4824													
HBB	gene	HBB	Expert Review Green;Literature	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Erythrocytosis 6, OMIM:617980				28332377;24115288;23215953;24482100;20642336;19734427;23388674;15921161		False	3	0;100;0	2.17	False		ENSG00000244734	ENSG00000244734	HGNC:4827													
JAK2	gene	JAK2	Expert list;Expert Review Green;NHS GMS	Hereditary Erythrocytosis		Haematology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Hereditary erythrocytosis;Erythrocytosis, somatic, OMIM:133100				38629639;37639050;27389715		False	3	100;0;0	2.17	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000096968	ENSG00000096968	HGNC:6192													
SLC30A10	gene	SLC30A10	Expert Review Green;Literature;NHS GMS	Hereditary Erythrocytosis		Haematology	BIALLELIC, autosomal or pseudoautosomal	Hypermanganesemia with dystonia 1, OMIM:613280;Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease				22341971;22341972;22926781;22934317;29193034;29179235;31288771;32866815;34849276;34877518		False	3	100;0;0	2.17	False		ENSG00000196660	ENSG00000196660	HGNC:25355													
VHL	gene	VHL	Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN	Hereditary Erythrocytosis		Haematology	BIALLELIC, autosomal or pseudoautosomal	Erythrocytosis, familial, 2, OMIM:263400				27651169;27774468;23859443;12415268;16210343;14726398;21454469		False	3	100;0;0	2.17	False		ENSG00000134086	ENSG00000134086	HGNC:12687													
PIEZO1	gene	PIEZO1	Expert Review Amber;Literature	Hereditary Erythrocytosis		Haematology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380;Erythrocytosis				33181827;31298594;30655378		False	2	67;33;0	2.17	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000103335	ENSG00000103335	HGNC:28993													
SH2B3	gene	SH2B3	Expert list;Expert Review Amber;NHS GMS	Hereditary Erythrocytosis		Haematology	Other	Erythrocytosis, somatic, OMIM:133100;Myelofibrosis, somatic, OMIM:254450;Thrombocythemia, somatic, OMIM:187950				23812944;23908464;20843259;24092923;34440325;34021251;38024597;37981895;39316992		False	2	50;25;25	2.17	False		ENSG00000111252	ENSG00000111252	HGNC:29605