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 GATA1 gene GATA1 Expert list;Expert Review Green Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia (MONDO:0015253) Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 PMID: 36029112 False 3 100;0;0 1.8 True ENSG00000102145 ENSG00000102145 HGNC:4170 HEATR3 gene HEATR3 Expert Review Green;Literature Diamond Blackfan anaemia Haematological disorders BIALLELIC, autosomal or pseudoautosomal Diamond-Blackfan anaemia 21, MIM# 620072 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 PMID: 35213692 False 3 100;0;0 1.8 True ENSG00000155393 ENSG00000155393 HGNC:26087 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 19061985 False 3 100;0;0 1.8 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 12, MIM# 615550 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 23812780;29599205 False 3 100;0;0 1.8 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 11, MIM# 614900 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 22431104 False 3 50;0;50 1.8 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 5, MIM# 612528 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 18535205;32241839 False 3 100;0;0 1.8 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 6, MIM# 612561;MONDO:0012937 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 19061985 False 3 100;0;0 1.8 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 9, MIM# 613308 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 20116044;23718193;25946618 False 3 100;0;0 1.8 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 4, MIM# 612527 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 17647292;19061985;23812780;23718193 False 3 100;0;0 1.8 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 1, MIM# 105650;MONDO:0007110 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 9988267;10590074 False 3 100;0;0 1.8 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anemia 3, MIM# 610629;MONDO:0012529 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 17186470;23812780;25946618 False 3 100;0;0 1.8 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 20116044;23812780;24942156 False 3 100;0;0 1.8 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 8, MIM# 612563;MONDO:0012939 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 19061985;23718193;27882484;32772263 False 3 100;0;0 1.8 True ENSG00000171863 ENSG00000171863 HGNC:10440 RPL18 gene RPL18 Expert list;Expert Review Amber Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 18, MIM# 618310" Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 28280134;32075953 False 2 0;100;0 1.8 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL31 gene RPL31 Expert Review Amber;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 25042156;25424902 False 2 0;100;0 1.8 True ENSG00000071082 ENSG00000071082 HGNC:10334 RPL8 gene RPL8 Expert Review Amber;Literature Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia MONDO:0015253 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 25424902;34961992 False 2 0;100;0 1.8 True ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert list;Expert Review Amber Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 29114930;20116044;31799629 False 2 0;100;0 1.8 True ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 32790018 False 2 0;100;0 1.8 True Other ENSG00000008988 ENSG00000008988 HGNC:10405 RPS28 gene RPS28 Expert Review Amber;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 24942156 False 2 0;100;0 1.8 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Expert Review Amber;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13, MIM# 615909 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 24829207 False 2 0;100;0 1.8 True ENSG00000213741 ENSG00000213741 HGNC:10419 RPL27 gene RPL27 Expert Review Red;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 16, MIM# 617408 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 25424902 False 1 0;0;100 1.8 True ENSG00000131469 ENSG00000131469 HGNC:10328 RPL35 gene RPL35 Expert list;Expert Review Red Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 19, MIM# 618312" Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 28280134 False 1 0;0;100 1.8 True ENSG00000136942 ENSG00000136942 HGNC:10344 RPS15 gene RPS15 Expert Review;Expert Review Red Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 19061985 False 1 0;0;100 1.8 True ENSG00000115268 ENSG00000115268 HGNC:10388 RPS15A gene RPS15A Expert list;Expert Review Red Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 20, MIM# 618313" Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 27909223 False 1 0;0;100 1.8 True ENSG00000134419 ENSG00000134419 HGNC:10389 RPS27 gene RPS27 Expert Review Red;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 17, MIM# 617409 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 25424902 False 1 0;0;100 1.8 True ENSG00000177954 ENSG00000177954 HGNC:10416 TSR2 gene TSR2 Expert Review Red;Victorian Clinical Genetics Services Diamond Blackfan anaemia Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Anemia;HP:0001903; Abnormality of thumb morphology;HP:0001172 24942156 False 1 0;0;100 1.8 True ENSG00000158526 ENSG00000158526 HGNC:25455