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 ABCB7 gene ABCB7 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, MIM# 301310 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10196363 False 3 100;0;0 1.112 True ENSG00000131269 ENSG00000131269 HGNC:48 ACD gene ACD Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal telomere syndrome MONDO:0100137;dyskeratosis congenita, autosomal dominant 6 MONDO:0014690;Hoyeraal-Hreidarsson syndrome MONDO:0018045 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27807141;31515401;30995915;27528712;25205116;24316971;30064976;33446513;25233904 False 3 67;0;33 1.112 True ENSG00000102977 ENSG00000102977 HGNC:25070 ACTB gene ACTB Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 30315159 False 3 100;0;0 1.112 True ENSG00000075624 ENSG00000075624 HGNC:132 ADA2 gene ADA2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 24552284;24552285;33791889 False 3 100;0;0 1.112 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADH5 gene ADH5 Expert Review Green;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal AMED syndrome, digenic, MIM# 619151;Aplastic anaemia;myelodysplasia;short stature Abnormality of multiple cell lineages of the bone marrow;HP:0012145 33147438 False 3 100;0;0 1.112 True ENSG00000197894 ENSG00000197894 HGNC:253 AK2 gene AK2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, MIM# 267500;MONDO:0009973 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19043416;19043417 False 3 100;0;0 1.112 True ENSG00000004455 ENSG00000004455 HGNC:362 ALAS2 gene ALAS2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1, MIM# 300751 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10029606 False 3 100;0;0 1.112 True ENSG00000158578 ENSG00000158578 HGNC:397 ANKRD26 gene ANKRD26 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia 2, MIM# 188000 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 21211618 False 3 100;0;0 1.112 True ENSG00000107890 ENSG00000107890 HGNC:29186 BRCA1 gene BRCA1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group S, MIM# 617883" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23269703;29133208;25472942;29712865 False 3 100;0;0 1.112 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27107905 False 3 100;0;0 1.112 True ENSG00000136492 ENSG00000136492 HGNC:20473 C15orf41 gene C15orf41 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Dyserythropoietic anemia, congenital, type Ib, MIM# 615631" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23716552;32293259;31191338;29885034 False 3 100;0;0 1.112 True ENSG00000186073 ENSG00000186073 HGNC:26929 CDAN1 gene CDAN1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type Ia, 224120 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 32518175 False 3 100;0;0 1.112 True ENSG00000140326 ENSG00000140326 HGNC:1713 CLPB gene CLPB Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271;3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271;congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 34115842, 25597510, 25597511 False 3 100;0;0 1.112 True Other ENSG00000162129 ENSG00000162129 HGNC:30664 CSF3R gene CSF3R Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 24753537;26324699;33511998;32966608 False 3 100;0;0 1.112 True ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 22267198;22387016 False 3 100;0;0 1.112 True ENSG00000178971 ENSG00000178971 HGNC:26169 DCLRE1B gene DCLRE1B Expert Review Green;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 8, MIM# 620133 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10699141;20479256;35007328 False 3 100;0;0 1.112 True ENSG00000118655 ENSG00000118655 HGNC:17641 DDX41 gene DDX41 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000183258 ENSG00000183258 HGNC:18674 DKC1 gene DKC1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked 305000;Hoyeraal-Hreidarsson Syndrome Abnormality of multiple cell lineages of the bone marrow;HP:0012145 31269755;26951492;29081935;25940403 False 3 100;0;0 1.112 True ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 3, MIM# 617052" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 29700810;28062395;27346687 False 3 100;0;0 1.112 True ENSG00000168724 ENSG00000168724 HGNC:27030 DNASE2 gene DNASE2 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopenia syndrome, MIM#619858 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 29259162, 31775019 False 3 100;0;0 1.112 True ENSG00000105612 ENSG00000105612 HGNC:2960 DUT gene DUT Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Abnormality of multiple cell lineages of the bone marrow;HP:0012145 28073829;35611808 False 3 50;50;0 1.112 True ENSG00000128951 ENSG00000128951 HGNC:3078 EFL1 gene EFL1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2, MIM# 617941 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 28331068;31151987 False 3 100;0;0 1.112 True ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19036076;3124897;33968054 False 3 100;0;0 1.112 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, MIM# 615272 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23623386 False 3 100;0;0 1.112 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 2, MIM# 615715" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 24507776;27185855 False 3 100;0;0 1.112 True ENSG00000182150 ENSG00000182150 HGNC:26922 ERG gene ERG Expert Review Green;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myelodysplasia syndrome, MONDO:0018881, ERG-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 38991192 False 3 50;50;0 1.112 True ENSG00000157554 ENSG00000157554 HGNC:3446 ETV6 gene ETV6 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Thrombocytopenia 5, MIM# 616216" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 25581430;25807284 False 3 100;0;0 1.112 True ENSG00000139083 ENSG00000139083 HGNC:3495 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10094191 False 3 100;0;0 1.112 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 15502827 False 3 100;0;0 1.112 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645;MONDO:0009213 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 31044565;30792206;28717661 False 3 100;0;0 1.112 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17436244 False 3 100;0;0 1.112 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 1.112 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10615118;31288759 False 3 100;0;0 1.112 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 9806548;12552564 False 3 100;0;0 1.112 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17452773 False 3 100;0;0 1.112 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19405097;25754594;33394227;33224012 False 3 100;0;0 1.112 True ENSG00000115392 ENSG00000115392 HGNC:20748 G6PC3 gene G6PC3 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541;MONDO:0012930;Dursun syndrome, MIM# 612541 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19118303;20799326;25492228;17318259;20616219 False 3 100;0;0 1.112 True ENSG00000141349 ENSG00000141349 HGNC:24861 GALE gene GALE Expert Review;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia 12, syndromic, MIM#620776 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 30247636;34159722;36395340 False 3 100;0;0 1.112 True ENSG00000117308 ENSG00000117308 HGNC:4116 GATA1 gene GATA1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 21, MIM# 614172;GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982;Emberger syndrome, MIM# 614038;Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 21670465;21242295;21892158 False 3 100;0;0 1.112 True ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 12778173;20560965;11810106;22684987 False 3 100;0;0 1.112 True ENSG00000162676 ENSG00000162676 HGNC:4237 GIMAP5 gene GIMAP5 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Portal hypertension, noncirrhotic, 2, MIM# 619463 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 33956074 False 3 100;0;0 1.112 True ENSG00000196329 ENSG00000196329 HGNC:18005 GLRX5 gene GLRX5 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17485548;25342667;30660387 False 3 100;0;0 1.112 True ENSG00000182512 ENSG00000182512 HGNC:20134 HAX1 gene HAX1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738;Kostmann syndrome MONDO:0012548 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17187068;18611981;19036076 False 3 100;0;0 1.112 True ENSG00000143575 ENSG00000143575 HGNC:16915 HEATR3 gene HEATR3 Expert Review Green;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Diamond-Blackfan anaemia 21, MIM# 620072 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 35213692 False 3 100;0;0 1.112 True ENSG00000155393 ENSG00000155393 HGNC:26087 JAGN1 gene JAGN1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 25129144 False 3 100;0;0 1.112 True ENSG00000171135 ENSG00000171135 HGNC:26926 KLF1 gene KLF1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673;MONDO:0013355;Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 21055716;33339573;32815883;32221653;32032242;31818881;24443441;25724378;28361594;34554218 False 3 100;0;0 1.112 True ENSG00000105610 ENSG00000105610 HGNC:6345 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593;DNA ligase IV deficiency, MONDO:0011686 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 11779494;16088910;15333585;20133615 False 3 100;0;0 1.112 True ENSG00000174405 ENSG00000174405 HGNC:6601 MBD4 gene MBD4 Expert Review;Expert Review Green;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Tumor predisposition syndrome 2 - MIM#619975;Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 30049810;PMID:35460607;PMID:35381620 False 3 100;0;0 1.112 True ENSG00000129071 ENSG00000129071 HGNC:6919 MECOM gene MECOM Expert Review;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738;Bone marrow failure without radioulnar synostosis (RUS) Abnormality of multiple cell lineages of the bone marrow;HP:0012145 26581901;29519864;29146883 False 3 100;0;0 1.112 True Other ENSG00000085276 ENSG00000085276 HGNC:3498 MPIG6B gene MPIG6B Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 31276734, 29898956, 27743390 False 3 100;0;0 1.112 True ENSG00000204420 ENSG00000204420 HGNC:13937 MPL gene MPL Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myelofibrosis with myeloid metaplasia, somatic, MIM#254450;Thrombocythemia 2, MIM#601977, AD, SMu;Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR Abnormality of multiple cell lineages of the bone marrow;HP:0012145 28955303;26423830 False 3 100;0;0 1.112 True ENSG00000117400 ENSG00000117400 HGNC:7217 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10973259;10973260 False 3 100;0;0 1.112 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYSM1 gene MYSM1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4, MIM#618116 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 24288411;28115216;26220525;32640305 False 3 100;0;0 1.112 True ENSG00000162601 ENSG00000162601 HGNC:29401 NAF1 gene NAF1 Expert Review Green;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27510903 False 3 100;0;0 1.112 True ENSG00000145414 ENSG00000145414 HGNC:25126 NBEAL2 gene NBEAL2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome, MIM# 139090 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 21765412;21765411;21765413 False 3 100;0;0 1.112 True ENSG00000160796 ENSG00000160796 HGNC:31928 NBN gene NBN Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260;Aplastic anemia, MIM#609135;Leukemia, acute lymphoblastic, MIM#613065 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 11325820, 15338273, 33488600, 33082212 False 3 100;0;0 1.112 True ENSG00000104320 ENSG00000104320 HGNC:7652 NHP2 gene NHP2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 18523010;31985013 False 3 100;0;0 1.112 True ENSG00000145912 ENSG00000145912 HGNC:14377 NPM1 gene NPM1 Expert Review Green;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure Abnormality of multiple cell lineages of the bone marrow;HP:0012145 31570891 False 3 100;0;0 1.112 True Other ENSG00000181163 ENSG00000181163 HGNC:7910 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000083093 ENSG00000083093 HGNC:26144 PARN gene PARN Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, MIM# 616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 25893599;26342108;25848748 False 3 100;0;0 1.112 True ENSG00000140694 ENSG00000140694 HGNC:8609 POLA2 gene POLA2 Expert Review Green;Literature Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Telomere biology syndrome MONDO:0100137 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 39616267 False 3 100;0;0 1.112 True ENSG00000014138 ENSG00000014138 HGNC:30073 POT1 gene POT1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary neoplastic syndrome, MONDO:0015356, POT1-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 33119245 False 3 100;0;0 1.112 True ENSG00000128513 ENSG00000128513 HGNC:17284 PSTPIP1 gene PSTPIP1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416;Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000140368 ENSG00000140368 HGNC:9580 PUS1 gene PUS1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 1.112 True ENSG00000177192 ENSG00000177192 HGNC:15508 RAD51C gene RAD51C Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 20400963;29278735 False 3 100;0;0 1.112 True ENSG00000108384 ENSG00000108384 HGNC:9820 RBM8A gene RBM8A Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM# 274000 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000131795 ENSG00000265241 HGNC:9905 RMRP gene RMRP Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia, MIM# 250250 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000269900 ENSG00000269900 HGNC:10031 RPA1 gene RPA1 Expert Review Green;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767;Bone marrow failure;T- and B-cell lymphopaenia;pulmonary fibrosis;skin manifestations;short telomeres Abnormality of multiple cell lineages of the bone marrow;HP:0012145 34767620 False 3 100;0;0 1.112 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132383 ENSG00000132383 HGNC:10289 RPL11 gene RPL11 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19061985 False 3 100;0;0 1.112 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 12, MIM# 615550" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23812780;29599205 False 3 100;0;0 1.112 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anemia 11, MIM# 614900" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 22431104;39268718 False 3 100;0;0 1.112 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 5, MIM# 612528;MONDO:0012925 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 18535205;32241839 False 3 100;0;0 1.112 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 6, MIM# 612561;MONDO:0012937 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19061985 False 3 100;0;0 1.112 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia 9, MIM# 613308 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 20116044;23718193;25946618 False 3 100;0;0 1.112 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 4, MIM# 612527;MONDO:0012924" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17647292;19061985;23812780;23718193 False 3 100;0;0 1.112 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 1, MIM# 105650;MONDO:0007110 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 9988267;10590074 False 3 100;0;0 1.112 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-blackfan anemia 3, MIM# 610629;MONDO:0012529 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 17186470;23812780;25946618 False 3 100;0;0 1.112 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 10, MIM# 613309;MONDO:0013217 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 20116044;23812780;24942156 False 3 100;0;0 1.112 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anemia 8, MIM# 612563;MONDO:0012939 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19061985;23718193;27882484;32772263 False 3 100;0;0 1.112 True ENSG00000171863 ENSG00000171863 HGNC:10440 RTEL1 gene RTEL1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, MIM# 615190;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23453664;23329068;25848748;25607374;15210109 False 3 100;0;0 1.112 True ENSG00000258366 ENSG00000258366 HGNC:15888 RUNX1 gene RUNX1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10508512;11830488 False 3 100;0;0 1.112 True ENSG00000159216 ENSG00000159216 HGNC:10471 SAMD9 gene SAMD9 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MIRAGE syndrome, MIM#617053 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27182967 False 3 100;0;0 1.112 True ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert list;Expert Review Green Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ataxia-pancytopenia syndrome, MIM# 159550" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27259050;30923096;30322869 False 3 100;0;0 1.112 True Other ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000126524 ENSG00000126524 HGNC:19440 SEC23B gene SEC23B Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II , MIM#224100 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19561605;19621418 False 3 100;0;0 1.112 True ENSG00000101310 ENSG00000101310 HGNC:10702 SH2B3 gene SH2B3 Expert Review Green;Literature Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Predisposition to haematological malignancies;Myeloproliferation and multi-organ autoimmunity;juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Abnormality of multiple cell lineages of the bone marrow;HP:0012145 37206266;23908464;38152053;37206266;38152053 False 3 100;0;0 1.112 True ENSG00000111252 ENSG00000111252 HGNC:29605 SLC19A2 gene SLC19A2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 10391221;10978358 False 3 100;0;0 1.112 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 19412178 False 3 100;0;0 1.112 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC37A4 gene SLC37A4 Expert Review Green;Literature;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, MIM# 232220 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 31788408;31536830 False 3 100;0;0 1.112 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLX4 gene SLX4 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, MIM# 613951 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 21240275;21240277 False 3 100;0;0 1.112 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCAL1 gene SMARCAL1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, MIM# 242900 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 11799392;17089404 False 3 100;0;0 1.112 True ENSG00000138375 ENSG00000138375 HGNC:11102 SRP54 gene SRP54 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic neutropenia with Shwachman-Diamond-like features Abnormality of multiple cell lineages of the bone marrow;HP:0012145 28972538 False 3 100;0;0 1.112 True ENSG00000100883 ENSG00000100883 HGNC:11301 STN1 gene STN1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27432940;32627942 False 3 50;50;0 1.112 True ENSG00000107960 ENSG00000107960 HGNC:26200 TAZ gene TAZ Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM# 302060 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBXAS1 gene TBXAS1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Ghosal hematodiaphyseal syndrome, MIM#231095 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 18264100 False 3 100;0;0 1.112 True ENSG00000059377 ENSG00000059377 HGNC:11609 TCN2 gene TCN2 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, MIM#275350 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 PMID: 24305960, 7980584, 7849710, 20352340, 18956254, 32841161, 33023511, 30124850 False 3 100;0;0 1.112 True ENSG00000185339 ENSG00000185339 HGNC:11653 TERC gene TERC Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, MIM# 613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 16247010;15814878 False 3 100;0;0 1.112 True ENSG00000164362 ENSG00000164362 HGNC:11730 THPO gene THPO Expert Review;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 24085763;28559357;29191945;36226497 False 3 100;0;0 1.112 True ENSG00000090534 ENSG00000090534 HGNC:11795 TINF2 gene TINF2 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita, autosomal dominant 3, MIM# 613990;Revesz syndrome, MIM# 268130 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 18669893;21199492;18252230;21477109;33097095 False 3 100;0;0 1.112 True ENSG00000092330 ENSG00000092330 HGNC:11824 TLR8 gene TLR8 Expert Review Green;Literature Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 33512449 False 3 100;0;0 1.112 True Other ENSG00000101916 ENSG00000101916 HGNC:15632 UBE2T gene UBE2T Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group T, MIM# 616435" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 26046368 False 3 100;0;0 1.112 True ENSG00000077152 ENSG00000077152 HGNC:25009 USB1 gene USB1 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropaenia, MIM# 604173;MONDO:0011405 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 20004881;20503306;34004352;33624217;33111394;32936385;32620997;31522452 False 3 100;0;0 1.112 True ENSG00000103005 ENSG00000103005 HGNC:25792 VPS45 gene VPS45 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 23599270;23738510 False 3 100;0;0 1.112 True ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert list;Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott-Aldrich syndrome, MIM# 301000;Thrombocytopenia, X-linked, MIM# 313900 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 False 3 100;0;0 1.112 True ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert list;Expert Review Green Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal "Wiskott-Aldrich syndrome 2, MIM# 614493" Abnormality of multiple cell lineages of the bone marrow;HP:0012145 27742395;11869681;22231303;14757742;9405671 False 3 100;0;0 1.112 True ENSG00000115935 ENSG00000115935 HGNC:12736 WRAP53 gene WRAP53 Expert Review Green;Victorian Clinical Genetics Services Bone Marrow Failure Haematological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 21205863;32303682;29514627 False 3 100;0;0 1.112 True ENSG00000141499 ENSG00000141499 HGNC:25522 ZCCHC8 gene ZCCHC8 Expert Review Green;Literature Bone Marrow Failure Haematological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Abnormality of multiple cell lineages of the bone marrow;HP:0012145 31488579;38375433 False 3 50;50;0 1.112 True ENSG00000033030 ENSG00000033030 HGNC:25265 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