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 JAK2 gene JAK2 Expert list;Expert Review Amber;NHS GMS Hereditary Erythrocytosis Anaemias and red cell disorders Haematological disorders Other Erythrocytosis, somatic, OMIM:133100 False 2 50;0;50 2.6 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 PIEZO1 gene PIEZO1 Expert Review Amber;Literature Hereditary Erythrocytosis Anaemias and red cell disorders Haematological disorders 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 2.6 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 Anaemias and red cell disorders Haematological disorders Other Erythrocytosis, somatic, OMIM:133100 23812944;20843259;34440325;34021251 False 2 33;33;33 2.6 False ENSG00000111252 ENSG00000111252 HGNC:29605