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;IBMDx Study IBMDx study Unknown Anemia, sideroblastic, with ataxia, MIM# 301310 False 3 100;0;0 0.33 False ENSG00000131269 ENSG00000131269 HGNC:48 ACTN1 gene ACTN1 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown ACTN1 related thrombocytopenia False 3 100;0;0 0.33 False ENSG00000072110 ENSG00000072110 HGNC:163 ADA2 gene ADA2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 False 3 100;0;0 0.33 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADH5 gene ADH5 Expert Review Green;IBMDx Study;Literature IBMDx study Unknown AMED syndrome, digenic, MIM# 619151;short stature;Aplastic anaemia;myelodysplasia False 3 100;0;0 0.33 False ENSG00000197894 ENSG00000197894 HGNC:253 AK2 gene AK2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0009973;Reticular dysgenesis, MIM# 267500 False 3 100;0;0 0.33 False ENSG00000004455 ENSG00000004455 HGNC:362 ALAS2 gene ALAS2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Anemia, sideroblastic, 1, MIM# 300751 False 3 100;0;0 0.33 False ENSG00000158578 ENSG00000158578 HGNC:397 ANKRD26 gene ANKRD26 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Thrombocytopaenia 2, MIM# 188000 False 3 100;0;0 0.33 False ENSG00000107890 ENSG00000107890 HGNC:29186 C15orf41 gene C15orf41 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Dyserythropoietic anemia, congenital, type Ib, MIM# 615631 False 3 100;0;0 0.33 False ENSG00000186073 ENSG00000186073 HGNC:26929 CDAN1 gene CDAN1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dyserythropoietic anemia, congenital, type Ia, 224120 False 3 100;0;0 0.33 False ENSG00000140326 ENSG00000140326 HGNC:1713 CDC42 gene CDC42 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Takenouchi-Kosaki syndrome with thrombocytopenia False 3 100;0;0 0.33 False ENSG00000070831 ENSG00000070831 HGNC:1736 CSF3R gene CSF3R Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 False 3 100;0;0 0.33 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTC1 gene CTC1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 False 3 100;0;0 0.33 False ENSG00000178971 ENSG00000178971 HGNC:26169 CXCR4 gene CXCR4 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted WHIM syndrome, MIM# 193670 12692554;15536153;23009155;18274673;28928741;16946301;17715292 False 3 50;50;0 0.33 True ENSG00000121966 ENSG00000121966 HGNC:2561 CYCS gene CYCS Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Autosomal dominant thrombocytopenia 4 False 3 100;0;0 0.33 False ENSG00000172115 ENSG00000172115 HGNC:19986 DDX41 gene DDX41 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871 False 3 100;0;0 0.33 False ENSG00000183258 ENSG00000183258 HGNC:18674 DIAPH1 gene DIAPH1 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Macrothrombocytopenia and sensorineural hearing loss False 3 100;0;0 0.33 False ENSG00000131504 ENSG00000131504 HGNC:2876 DKC1 gene DKC1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Hoyeraal-Hreidarsson Syndrome;Dyskeratosis congenita, X-linked 305000 False 3 100;0;0 0.33 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAJC21 gene DNAJC21 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Bone marrow failure syndrome 3, MIM# 617052 False 3 100;0;0 0.33 False ENSG00000168724 ENSG00000168724 HGNC:27030 EFL1 gene EFL1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Shwachman-Diamond syndrome 2, MIM# 617941 False 3 100;0;0 0.33 False ENSG00000140598 ENSG00000140598 HGNC:25789 ELANE gene ELANE Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700 19036076 False 3 100;0;0 0.33 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;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anemia, complementation group Q, MIM# 615272 False 3 100;0;0 0.33 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Bone marrow failure syndrome 2, MIM# 615715 False 3 100;0;0 0.33 False ENSG00000182150 ENSG00000182150 HGNC:26922 ETV6 gene ETV6 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Thrombocytopenia 5, MIM# 616216 False 3 100;0;0 0.33 False ENSG00000139083 ENSG00000139083 HGNC:3495 FANCA gene FANCA Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0009215;Fanconi anaemia, complementation group A, MIM# 227650 False 3 100;0;0 0.33 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anaemia, complementation group B, MIM# 300514 False 3 100;0;0 0.33 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0009213;Fanconi anemia, complementation group C, MIM# 227645 False 3 100;0;0 0.33 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 False 3 100;0;0 0.33 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 False 3 100;0;0 0.33 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anaemia, complementation group F 603467;MONDO:0011325 False 3 100;0;0 0.33 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0013565;Fanconi anaemia, complementation group G, MIM# 614082 False 3 100;0;0 0.33 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 False 3 100;0;0 0.33 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 False 3 100;0;0 0.33 False ENSG00000115392 ENSG00000115392 HGNC:20748 FLI1 gene FLI1 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Paris-Trousseau thrombocytopenia and Jacobson syndrome False 3 100;0;0 0.33 False ENSG00000151702 ENSG00000151702 HGNC:3749 G6PC3 gene G6PC3 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dursun syndrome, MIM# 612541;MONDO:0012930;Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541 False 3 100;0;0 0.33 False ENSG00000141349 ENSG00000141349 HGNC:24861 GATA1 gene GATA1 Expert list;Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 False 3 100;0;0 0.33 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982;Immunodeficiency 21, MIM# 614172;Emberger syndrome, MIM# 614038;Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 False 3 100;0;0 0.33 False ENSG00000179348 ENSG00000179348 HGNC:4171 GFI1 gene GFI1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107 False 3 100;0;0 0.33 False ENSG00000162676 ENSG00000162676 HGNC:4237 GFI1B gene GFI1B Expert Review Green;IBMDx Study;Literature IBMDx study Unknown Bleeding disorder, platelet-type, 17 False 3 100;0;0 0.33 False ENSG00000165702 ENSG00000165702 HGNC:4238 GLRX5 gene GLRX5 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 False 3 100;0;0 0.33 False ENSG00000182512 ENSG00000182512 HGNC:20134 GP1BA gene GP1BA Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Bernard-Soulier syndrome (BSS) False 3 100;0;0 0.33 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Bernard-Soulier syndrome (BSS) False 3 100;0;0 0.33 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP9 gene GP9 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Bernard-Soulier syndrome (BSS) False 3 100;0;0 0.33 False ENSG00000169704 ENSG00000169704 HGNC:4444 HAX1 gene HAX1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Kostmann syndrome MONDO:0012548;Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 False 3 100;0;0 0.33 False ENSG00000143575 ENSG00000143575 HGNC:16915 HOXA11 gene HOXA11 Expert Review Amber;Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 False 3 0;100;0 0.33 False ENSG00000005073 ENSG00000005073 HGNC:5101 ITGA2B gene ITGA2B Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Glanzmann thrombasthenia, Platelet-type bleeding disorder 16 False 3 100;0;0 0.33 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB3 gene ITGB3 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Glanzmann thrombasthenia, Platelet-type bleeding disorder 16 False 3 100;0;0 0.33 False ENSG00000259207 ENSG00000259207 HGNC:6156 JAGN1 gene JAGN1 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 False 3 100;0;0 0.33 False ENSG00000171135 ENSG00000171135 HGNC:26926 KLF1 gene KLF1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type IV, MIM# 613673;MONDO:0013355;Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 21055716;33339573;32815883;32221653;32032242;31818881;24443441;25724378;28361594;34554218 False 3 100;0;0 0.33 True ENSG00000105610 ENSG00000105610 HGNC:6345 LIG4 gene LIG4 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593;DNA ligase IV deficiency, MONDO:0011686 11779494;16088910;15333585;20133615 False 3 100;0;0 0.33 True ENSG00000174405 ENSG00000174405 HGNC:6601 LYST gene LYST Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Chediak-Higashi syndrome (CHS) False 3 100;0;0 0.33 False ENSG00000143669 ENSG00000143669 HGNC:1968 MECOM gene MECOM Expert Review;Expert Review Green;IBMDx Study IBMDx study Unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738;Bone marrow failure without radioulnar synostosis (RUS) False 3 100;0;0 0.33 False ENSG00000085276 ENSG00000085276 HGNC:3498 MPL gene MPL Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Thrombocythemia 2, MIM#601977, AD, SMu;Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR;Myelofibrosis with myeloid metaplasia, somatic, MIM#254450 False 3 100;0;0 0.33 False ENSG00000117400 ENSG00000117400 HGNC:7217 MYH9 gene MYH9 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 False 3 100;0;0 0.33 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYSM1 gene MYSM1 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Bone marrow failure syndrome 4, MIM#618116 False 3 100;0;0 0.33 False ENSG00000162601 ENSG00000162601 HGNC:29401 NBEAL2 gene NBEAL2 Expert list;Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Gray platelet syndrome, MIM# 139090 False 3 100;0;0 0.33 False ENSG00000160796 ENSG00000160796 HGNC:31928 NHP2 gene NHP2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 False 3 100;0;0 0.33 False ENSG00000145912 ENSG00000145912 HGNC:14377 PALB2 gene PALB2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anaemia, complementation group N, MIM# 610832 False 3 100;0;0 0.33 False ENSG00000083093 ENSG00000083093 HGNC:26144 PARN gene PARN Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371;Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 False 3 100;0;0 0.33 False ENSG00000140694 ENSG00000140694 HGNC:8609 PUS1 gene PUS1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 0.33 True ENSG00000177192 ENSG00000177192 HGNC:15508 RAD51C gene RAD51C Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anemia, complementation group O, MIM# 613390 False 3 100;0;0 0.33 False ENSG00000108384 ENSG00000108384 HGNC:9820 RBM8A gene RBM8A Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Thrombocytopenia-absent radius syndrome, MIM# 274000 False 3 100;0;0 0.33 False ENSG00000131795 ENSG00000265241 HGNC:9905 RPA1 gene RPA1 Expert Review Green;IBMDx Study;Literature IBMDx study 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 34767620 False 3 100;0;0 0.33 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;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Diamond-Blackfan anemia 7, MIM# 612562;MONDO:0012938 False 3 100;0;0 0.33 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Diamond-Blackfan anemia 12, MIM# 615550 False 3 100;0;0 0.33 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL31 gene RPL31 Expert list;Expert Review Amber;Expert Review Green;IBMDx Study IBMDx study Unknown Diamond Blackfan anaemia False 3 0;100;0 0.33 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL35A gene RPL35A Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0012925;Diamond-Blackfan anemia 5, MIM# 612528 False 3 100;0;0 0.33 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0012937;Diamond-Blackfan anaemia 6, MIM# 612561 False 3 100;0;0 0.33 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPL9 gene RPL9 Expert list;Expert Review Amber;Expert Review Green;IBMDx Study IBMDx study Unknown Diamond Blackfan anaemia False 3 0;100;0 0.33 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS10 gene RPS10 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Diamond-Blackfan anaemia 9, MIM# 613308 False 3 100;0;0 0.33 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Diamond-Blackfan anaemia 4, MIM# 612527;MONDO:0012924 False 3 100;0;0 0.33 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Diamond-Blackfan anemia 1, MIM# 105650;MONDO:0007110 False 3 100;0;0 0.33 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS20 gene RPS20 Expert Review Amber;Expert Review Green;IBMDx Study;Literature IBMDx study Unknown Diamond Blackfan anaemia False 3 0;100;0 0.33 False ENSG00000008988 ENSG00000008988 HGNC:10405 RPS24 gene RPS24 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0012529;Diamond-blackfan anemia 3, MIM# 610629 False 3 100;0;0 0.33 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown MONDO:0013217;Diamond-Blackfan anemia 10, MIM# 613309 False 3 100;0;0 0.33 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS27 gene RPS27 Expert Review Green;Expert Review Red;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Diamond-Blackfan anemia 17, MIM# 617409 False 3 0;50;50 0.33 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS29 gene RPS29 Expert Review Amber;Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Diamond-Blackfan anemia 13, MIM# 615909 False 3 0;100;0 0.33 False ENSG00000213741 ENSG00000213741 HGNC:10419 RPS7 gene RPS7 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Diamond-Blackfan anemia 8, MIM# 612563;MONDO:0012939 False 3 100;0;0 0.33 False ENSG00000171863 ENSG00000171863 HGNC:10440 RTEL1 gene RTEL1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373;Dyskeratosis congenita, MIM# 615190 False 3 100;0;0 0.33 False ENSG00000258366 ENSG00000258366 HGNC:15888 RUNX1 gene RUNX1 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 False 3 100;0;0 0.33 False ENSG00000159216 ENSG00000159216 HGNC:10471 SAMD9 gene SAMD9 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown MIRAGE syndrome, MIM#617053 False 3 100;0;0 0.33 False ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Ataxia-pancytopenia syndrome, MIM# 159550 False 3 100;0;0 0.33 False ENSG00000177409 ENSG00000177409 HGNC:1349 SBDS gene SBDS Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Shwachman-Diamond syndrome, MIM# 260400 False 3 100;0;0 0.33 False ENSG00000126524 ENSG00000126524 HGNC:19440 SEC23B gene SEC23B Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dyserythropoietic anemia, congenital, type II , MIM#224100 False 3 100;0;0 0.33 False ENSG00000101310 ENSG00000101310 HGNC:10702 SLC19A2 gene SLC19A2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 False 3 100;0;0 0.33 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC25A38 gene SLC25A38 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 False 3 100;0;0 0.33 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLX4 gene SLX4 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anemia, complementation group P, MIM# 613951 False 3 100;0;0 0.33 False ENSG00000188827 ENSG00000188827 HGNC:23845 SRP54 gene SRP54 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Syndromic neutropenia with Shwachman-Diamond-like features False 3 100;0;0 0.33 False ENSG00000100883 ENSG00000100883 HGNC:11301 TERC gene TERC Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 False 3 100;0;0 0.33 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dyskeratosis congenita, MIM# 613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 False 3 100;0;0 0.33 False ENSG00000164362 ENSG00000164362 HGNC:11730 THPO gene THPO Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Thrombocytopenia progressing to trilineage bone marrow failure False 3 100;0;0 0.33 False ENSG00000090534 ENSG00000090534 HGNC:11795 TINF2 gene TINF2 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Revesz syndrome, MIM# 268130;Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 False 3 100;0;0 0.33 False ENSG00000092330 ENSG00000092330 HGNC:11824 UBE2T gene UBE2T Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Fanconi anemia, complementation group T, MIM# 616435 False 3 100;0;0 0.33 False ENSG00000077152 ENSG00000077152 HGNC:25009 VPS45 gene VPS45 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 False 3 100;0;0 0.33 False ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert list;Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Thrombocytopenia, X-linked, MIM# 313900;Wiskott-Aldrich syndrome, MIM# 301000 False 3 100;0;0 0.33 False ENSG00000015285 ENSG00000015285 HGNC:12731 WIPF1 gene WIPF1 Expert list;Expert Review Green;IBMDx Study IBMDx study Unknown Wiskott-Aldrich syndrome 2, MIM# 614493 False 3 100;0;0 0.33 False ENSG00000115935 ENSG00000115935 HGNC:12736 WRAP53 gene WRAP53 Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 False 3 100;0;0 0.33 False ENSG00000141499 ENSG00000141499 HGNC:25522 XRCC2 gene XRCC2 Expert Review Amber;Expert Review Green;IBMDx Study;Victorian Clinical Genetics Services IBMDx study Unknown Fanconi anemia, complementation group U, MIM# 617247 False 3 0;100;0 0.33 False ENSG00000196584 ENSG00000196584 HGNC:12829