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 ATRX gene ATRX Expert Review Red;London South GLH;NHS GMS Rare anaemia X-LINKED: hemizygous mutation in males, biallelic mutations in females 301040 Alpha-thalassemia/mental retardation syndrome 11449489;17579672;19444090 False 1 50;50;0 3.8 False ENSG00000085224 ENSG00000085224 HGNC:886 COX4I2 gene COX4I2 Expert Review Red;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Rare anaemia BIALLELIC, autosomal or pseudoautosomal 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714;612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis;Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis;Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 19268275 False 1 17;67;17 3.8 False ENSG00000131055 ENSG00000131055 HGNC:16232 CYB5A gene CYB5A Expert Review Red;London South GLH;NHS GMS Rare anaemia BIALLELIC, autosomal or pseudoautosomal 250790 Methemoglobinemia and ambiguous genitalia 8168836;20080843 False 1 0;50;50 3.8 False ENSG00000166347 ENSG00000166347 HGNC:2570 DKC1 gene DKC1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Rare anaemia X-LINKED: hemizygous mutation in males, biallelic mutations in females 305000 Dyskeratosis congenita, X-linked False 1 50;50;0 3.8 False ENSG00000130826 ENSG00000130826 HGNC:2890 FTCD gene FTCD Expert Review Red;London South GLH;NHS GMS Rare anaemia BIALLELIC, autosomal or pseudoautosomal 229100 Glutamate formiminotransferase deficiency 12815595 False 1 50;50;0 3.8 False ENSG00000160282 ENSG00000160282 HGNC:3974 GPX1 gene GPX1 Expert Review Red;London South GLH;NHS GMS Rare anaemia BIALLELIC, autosomal or pseudoautosomal 614164 Hemolytic anemia due to glutathione peroxidase deficiency 1131421 False 1 0;50;50 3.8 False ENSG00000233276 ENSG00000233276 HGNC:4553 HBE1 gene HBE1 Expert Review Red;London South GLH;NHS GMS Rare anaemia BIALLELIC, autosomal or pseudoautosomal Epsilon-gamma-delta-beta thalassaemia 17712794 False 1 50;50;0 3.8 False ENSG00000213931 ENSG00000213931 HGNC:4830 RPL26 gene RPL26 Expert Review Red;London South GLH;NHS GMS;Wessex and West Midlands GLH Rare anaemia MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Diamond-Blackfan anemia 11, 614900;614900 ?Diamond-Blackfan anemia 11 22431104 False 1 50;25;25 3.8 False ENSG00000161970 ENSG00000161970 HGNC:10327 SF3B1 gene SF3B1 Expert Review Red;London South GLH;NHS GMS Rare anaemia Unknown 605590 Refractory anaemia with ring sideroblasts 21995386;28188970 False 1 50;50;0 3.8 False ENSG00000115524 ENSG00000115524 HGNC:10768 SLC19A1 gene SLC19A1 Expert Review Red;Literature Rare anaemia BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia, folate-responsive, OMIM:601775 32276275 False 1 0;0;100 3.8 False ENSG00000173638 ENSG00000173638 HGNC:10937