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 CXCR4 gene CXCR4 Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, MIM# 193670 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 12692554 False 2 0;100;0 1.112 True ENSG00000121966 ENSG00000121966 HGNC:2561 FLT3LG gene FLT3LG Expert Review Amber;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 125, MIM# 620926 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 38701783 False 2 0;33;67 1.112 True ENSG00000090554 ENSG00000090554 HGNC:3766 HOXA11 gene HOXA11 Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 11101832;16765069 False 2 0;100;0 1.112 True ENSG00000005073 ENSG00000005073 HGNC:5101 KIF23 gene KIF23 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, congenital dyserythropoietic, type IIIA 105600 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23570799;33159567 False 2 0;100;0 1.112 True ENSG00000137807 ENSG00000137807 HGNC:6392 LCP1 gene LCP1 Expert Review Amber;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome, MONDO:0000159, LCP1-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 38710235 False 2 0;100;0 1.112 True ENSG00000136167 ENSG00000136167 HGNC:6528 MASTL gene MASTL Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders Unknown Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 2 0;100;0 1.112 True ENSG00000120539 ENSG00000120539 HGNC:19042 MDM4 gene MDM4 Expert Review Amber;Other Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted bone marrow failure syndrome MONDO:0000159, MDM4-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 32300648;33104793 False 2 0;100;0 1.112 True ENSG00000198625 ENSG00000198625 HGNC:6974 NOP10 gene NOP10 Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, MIM#224230;Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17507419;32139460;32554502 False 2 0;100;0 1.112 True ENSG00000182117 ENSG00000182117 HGNC:14378 PTPN13 gene PTPN13 Expert Review Amber;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal bone marrow failure syndrome MONDO#0000159, PTPN13-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 35643866 False 2 0;100;0 1.112 True ENSG00000163629 ENSG00000163629 HGNC:9646 RAP1B gene RAP1B Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 35451551;32627184;26280580 False 2 0;100;0 1.112 True ENSG00000127314 ENSG00000127314 HGNC:9857 RFWD3 gene RFWD3 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group W, MIM# 617784" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 28691929;38058754 False 2 0;50;50 1.112 True ENSG00000168411 ENSG00000168411 HGNC:25539 RPL18 gene RPL18 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 18, MIM# 618310 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 28280134, 32075953 False 2 0;100;0 1.112 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL31 gene RPL31 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of multiple cell lineages of the bone marrow;HP:0012145 25042156;25424902 False 2 0;100;0 1.112 True ENSG00000071082 ENSG00000071082 HGNC:10334 RPL8 gene RPL8 Expert Review Amber;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia MONDO:0015253 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 25424902, 34961992 False 2 0;100;0 1.112 True ENSG00000161016 ENSG00000161016 HGNC:10368 RPL9 gene RPL9 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of multiple cell lineages of the bone marrow;HP:0012145 29114930;20116044;31799629 False 2 0;100;0 1.112 True ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia Abnormality of multiple cell lineages of the bone marrow;HP:0012145 32790018 False 2 0;100;0 1.112 True ENSG00000008988 ENSG00000008988 HGNC:10405 RPS28 gene RPS28 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 24942156 False 2 0;100;0 1.112 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 13, MIM# 615909 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 24829207 False 2 0;100;0 1.112 True ENSG00000213741 ENSG00000213741 HGNC:10419 SRP19 gene SRP19 Expert Review Amber;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, MONDO:0001475, SRP19-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 36223592 False 2 0;50;50 1.112 True ENSG00000153037 ENSG00000153037 HGNC:11300 SRP72 gene SRP72 Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, MIM# 614675 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 22541560;31254415 False 2 0;100;0 1.112 True ENSG00000174780 ENSG00000174780 HGNC:11303 SRPRA gene SRPRA Expert Review Amber;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 36223592 False 2 0;50;50 1.112 True ENSG00000182934 ENSG00000182934 HGNC:11307 TP53 gene TP53 Expert list;Expert Review Amber Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Bone marrow failure syndrome 5, MIM# 618165" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 30146126;24013501;23770245 False 2 0;100;0 1.112 True Other ENSG00000141510 ENSG00000141510 HGNC:11998 TYMS gene TYMS Expert Review Amber;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, digenic, MIM#620040 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 35931051 False 2 0;50;50 1.112 True ENSG00000176890 ENSG00000176890 HGNC:12441 XRCC2 gene XRCC2 Expert Review Amber;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U, MIM# 617247 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27208205;22232082;11118202 False 2 0;100;0 1.112 True ENSG00000196584 ENSG00000196584 HGNC:12829