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 list;Expert Review Amber Red cell disorders Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Erythrocytosis, familial, 8, MIM# 222800" Abnormal erythrocyte morphology;HP:0001877 1421379;27651169;25015942 False 2 0;100;0 1.29 True ENSG00000172331 ENSG00000172331 HGNC:1093 CYB5A gene CYB5A Expert Review Amber;London South GLH;NHS GMS Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Methemoglobinaemia and ambiguous genitalia MIM#250790 Abnormal erythrocyte morphology;HP:0001877 8168836;20080843;22170710;20080843;32051920;3951505 False 2 0;100;0 1.29 True ENSG00000166347 ENSG00000166347 HGNC:2570 FTCD gene FTCD Expert Review Amber;London South GLH;NHS GMS Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency MIM# 229100 Abnormal erythrocyte morphology;HP:0001877 12815595;29178637;30740726;5301410 False 2 0;100;0 1.29 True ENSG00000160282 ENSG00000160282 HGNC:3974 GSR gene GSR Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660 Abnormal erythrocyte morphology;HP:0001877 8533822;17185460;31122244 False 2 0;100;0 1.29 True ENSG00000104687 ENSG00000104687 HGNC:4623 HSCB gene HSCB Expert list;Expert Review Amber Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Anaemia, sideroblastic, 5 619523" Abnormal erythrocyte morphology;HP:0001877 32634119 False 2 0;100;0 1.29 True ENSG00000100209 ENSG00000100209 HGNC:28913 JAK2 gene JAK2 Expert Review;Expert Review Amber Red cell disorders Haematological disorders Other Erythrocytosis, somatic, 133100 Abnormal erythrocyte morphology;HP:0001877 27389715 False 2 0;100;0 1.29 True Other ENSG00000096968 ENSG00000096968 HGNC:6192 KIF23 gene KIF23 Expert list;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anaemia, congenital dyserythropoietic, type IIIA 105600 Abnormal erythrocyte morphology;HP:0001877 23570799;33159567 False 2 0;100;0 1.29 True ENSG00000137807 ENSG00000137807 HGNC:6392 LARS2 gene LARS2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021 Abnormal erythrocyte morphology;HP:0001877 26537577;32442335 False 2 0;100;0 1.29 True ENSG00000011376 ENSG00000011376 HGNC:17095 RPL18 gene RPL18 Expert list;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 18, MIM# 618310 Abnormal erythrocyte morphology;HP:0001877 28280134;32075953 False 2 0;100;0 1.29 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL31 gene RPL31 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anaemia Abnormal erythrocyte morphology;HP:0001877 25424902;25042156 False 2 0;100;0 1.29 True ENSG00000071082 ENSG00000071082 HGNC:10334 RPL9 gene RPL9 Expert list;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anaemia Abnormal erythrocyte morphology;HP:0001877 29114930;20116044;31799629 False 2 0;100;0 1.29 True ENSG00000163682 ENSG00000163682 HGNC:10369 RPS28 gene RPS28 Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Abnormal erythrocyte morphology;HP:0001877 20301769;24942156 False 2 0;100;0 1.29 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Victorian Clinical Genetics Services;Wessex and West Midlands GLH;Yorkshire and North East GLH Red cell disorders Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 13, MIM# 615909 Abnormal erythrocyte morphology;HP:0001877 24829207 False 2 0;100;0 1.29 True ENSG00000213741 ENSG00000213741 HGNC:10419 SH2B3 gene SH2B3 Expert Review;Expert Review Amber Red cell disorders Haematological disorders Other "Erythrocytosis, somatic, MIM# 133100" Abnormal erythrocyte morphology;HP:0001877 34349782;23812944;20843259 False 2 0;100;0 1.29 True Other ENSG00000111252 ENSG00000111252 HGNC:29605 SLC19A1 gene SLC19A1 Expert list;Expert Review Amber Red cell disorders Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Megaloblastic anemia, folate-responsive, MIM# 601775" Abnormal erythrocyte morphology;HP:0001877 32276275;36745868;36517554 False 2 0;100;0 1.29 True ENSG00000173638 ENSG00000173638 HGNC:10937