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
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