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 ANKRD26 gene ANKRD26 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 2, OMIM:188000;Acute myeloid leukemia, MONDO:0018874 23926458;30466750;27895058;27069254 False 3 50;50;0 3.3 False ENSG00000107890 ENSG00000107890 HGNC:29186 CEBPA gene CEBPA Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Leukemia, acute myeloid, OMIM:601626;Leukemia, acute myeloid, somatic, OMIM:601626;Acute myeloid leukemia, MONDO:0018874 15575056;23926458;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000245848 ENSG00000245848 HGNC:1833 DDX41 gene DDX41 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871;DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809 25920683;26712909;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000183258 ENSG00000183258 HGNC:18674 ETV6 gene ETV6 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukemia, acute myeloid, somatic, OMIM:601626;Thrombocytopenia 5, OMIM:616216;Acute myeloid leukemia, MONDO:0018874 28600339;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000139083 ENSG00000139083 HGNC:3495 GATA2 gene GATA2 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Leukemia, acute myeloid, susceptibility to}, OMIM:601626;{Myelodysplastic syndrome, susceptibility to}, OMIM:614286;Emberger syndrome, OMIM:614038 23926458;28600339;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000179348 ENSG00000179348 HGNC:4171 MBD4 gene MBD4 Expert Review Green;Literature;NHS GMS Inherited predisposition to acute myeloid leukaemia (AML) BIALLELIC, autosomal or pseudoautosomal Multi-organ tumour predisposition syndrome;Adenomatous colorectal polyposis;Colorectal cancer;Acute myeloid leukemia;Uveal melanoma 12417741;30049810;32239153;35460607 False 3 100;0;0 3.3 False ENSG00000129071 ENSG00000129071 HGNC:6919 RUNX1 gene RUNX1 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukemia, acute myeloid, OMIM:601626;Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399 19357396;23926458;11830488;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000159216 ENSG00000159216 HGNC:10471 SAMD9L gene SAMD9L Expert Review Green Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270 11172908;10640152 False 3 100;0;0 3.3 False ENSG00000177409 ENSG00000177409 HGNC:1349 TERC gene TERC Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, OMIM:127550;{Aplastic anemia}, OMIM:614743 23926458;28600339;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Leukemia, acute myeloid}, OMIM:601626;Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 23926458;28600339;30466750;27895058;27069254 False 3 60;40;0 3.3 False ENSG00000164362 ENSG00000164362 HGNC:11730 TP53 gene TP53 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Inherited predisposition to acute myeloid leukaemia (AML) MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome, OMIM:151623;Li-Fraumeni syndrome 1, MONDO:0007903 28600339 False 3 50;50;0 3.3 False ENSG00000141510 ENSG00000141510 HGNC:11998