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 ABCG5 gene ABCG5 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Sitosterolemia with macrothrombocytopenia;Sitosterolemia, 210250 False 2 0;100;0 5.1 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Sitosterolemia with macrothrombocytopenia;Sitosterolemia, 210250 False 2 0;100;0 5.1 False ENSG00000143921 ENSG00000143921 HGNC:13887 ACKR1 gene ACKR1 Expert Review Amber;London South GLH;NHS GMS Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 613665 Benign hereditary neutropenia False 2 0;100;0 5.1 False ENSG00000213088 ENSG00000213088 HGNC:4035 ACTN1 gene ACTN1 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder, platelet-type, 15, 615193;Macrothrombocytopenia False 2 0;100;0 5.1 False ENSG00000072110 ENSG00000072110 HGNC:163 ADAMTS13 gene ADAMTS13 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 False 2 0;100;0 5.1 False ENSG00000160323 ENSG00000160323 HGNC:1366 AP3B1 gene AP3B1 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, 608233 False 2 0;100;0 5.1 False ENSG00000132842 ENSG00000132842 HGNC:566 CASP10 gene CASP10 Expert Review Amber;Other Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type II, OMIM:603909 34329798;38704374 False 2 50;50;0 5.1 False ENSG00000003400 ENSG00000003400 HGNC:1500 FLI1 gene FLI1 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 21, 617443 False 2 0;100;0 5.1 False ENSG00000151702 ENSG00000151702 HGNC:3749 GP1BA gene GP1BA Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type A1, 231200;Mild macrothrombocytopenia;Platelet type VWD, mild thrombocytopenia 2308962 False 2 50;50;0 5.1 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bernard-Soulier syndrome, type B, OMIM:231200;Giant platelet disorder, isolated, OMIM:231200;Macrothrombocytopenia 9116284;24934643;28064200;29527674;30609015;33657022;33813986 False 2 0;100;0 5.1 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP9 gene GP9 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome (includes macrothrombocytopenia);Bernard-Soulier syndrome, type C, 231200 False 2 0;100;0 5.1 False ENSG00000169704 ENSG00000169704 HGNC:4444 IKZF1 gene IKZF1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute lymphoblastic leukemia (ALL);Immunodeficiency, common variable, 13,616873 False 2 0;100;0 5.1 False ENSG00000185811 ENSG00000185811 HGNC:13176 KIF23 gene KIF23 Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDA III;Congenital dyserythropoietic anemia (CDA);Congenital dyserythropoietic anemia type III;Enzyme Disorder 7711721;7323912;23570799 False 2 50;25;25 5.1 False ENSG00000137807 ENSG00000137807 HGNC:6392 LAT gene LAT Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, 617514 27522155;27242165 False 2 0;100;0 5.1 False ENSG00000213658 ENSG00000213658 HGNC:18874 MASTL gene MASTL Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown severe aplastic anemia;Thrombocytopenia 10891439;26136524;22102272 False 2 0;67;33 5.1 False ENSG00000120539 ENSG00000120539 HGNC:19042 MYH9 gene MYH9 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia, 155100 20174760 False 2 50;50;0 5.1 False ENSG00000100345 ENSG00000100345 HGNC:7579 NBEAL2 gene NBEAL2 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Gray platelet syndrome, 139090 20709904 False 2 50;50;0 5.1 False ENSG00000160796 ENSG00000160796 HGNC:31928 NBN gene NBN Expert Review Amber;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Aplastic anemia, 609135;251260 Nijmegen breakage syndrome;Leukemia, acute lymphoblastic, 613065;Nijmegen breakage syndrome, 251260 15338273;11325820 False 2 33;67;0 5.1 False ENSG00000104320 ENSG00000104320 HGNC:7652 NOP10 gene NOP10 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, 224230 17507419 False 2 20;60;20 5.1 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPM1 gene NPM1 Expert list;Expert Review Amber Cytopenia - NOT Fanconi anaemia Haematology Unknown radial ray defects;short stature;nail dsytrophy;bone marrow failure 31570891 False 2 100;0;0 5.1 False ENSG00000181163 ENSG00000181163 HGNC:7910 RAC2 gene RAC2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology Neutrophil immunodeficiency syndrome, 608203 False 2 0;100;0 5.1 False ENSG00000128340 ENSG00000128340 HGNC:9802 RPL18 gene RPL18 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 28280134 False 2 0;100;0 5.1 False ENSG00000063177 ENSG00000063177 HGNC:10310 RPL26 gene RPL26 Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Diamond-Blackfan anemia 11, OMIM:614900 22431104;39268718 False 2 50;33;17 5.1 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL31 gene RPL31 Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 25424902;25042156 False 2 50;50;0 5.1 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL9 gene RPL9 Expert Review Amber;London South GLH;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia 23718193;20116044;29114930 False 2 50;25;25 5.1 False ENSG00000163682 ENSG00000163682 HGNC:10369 RPS20 gene RPS20 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia 32790018 False 2 0;100;0 5.1 False ENSG00000008988 ENSG00000008988 HGNC:10405 RPS28 gene RPS28 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 24942156;20301769 False 2 0;100;0 5.1 False ENSG00000233927 ENSG00000233927 HGNC:10418 RUNX1 gene RUNX1 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Platelet disorder, familial, with associated myeloid malignancy, 601399 19357396;9746808 False 2 50;50;0 5.1 False ENSG00000159216 ENSG00000159216 HGNC:10471 SEC61A1 gene SEC61A1 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542;Tubulointerstitial kidney disease, autosomal dominant, 5, OMIM:617056 27392076;32325141 False 2 0;100;0 5.1 False ENSG00000058262 ENSG00000058262 HGNC:18276 SLC46A1 gene SLC46A1 Expert Review;Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;anemia;pancytopenia 21333572;17446347;29390264;11804211;17641272 False 2 100;0;0 5.1 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLFN14 gene SLFN14 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bleeding disorder, platelet-type, 20, 616913 False 2 0;100;0 5.1 False ENSG00000236320 ENSG00000236320 HGNC:32689 SRP19 gene SRP19 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal severe congenital neutropenia, MONDO:0018542 36223592 False 2 0;100;0 5.1 False ENSG00000153037 ENSG00000153037 HGNC:11300 SRP72 gene SRP72 Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bone marrow failure syndrome 1, OMIM:614675;autosomal dominant aplasia and myelodysplasia, MONDO:0013851 22541560;29146883;32098966;31254415;40922878 False 2 33;67;0 5.1 False ENSG00000174780 ENSG00000174780 HGNC:11303 SRPRA gene SRPRA Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 36223592 False 2 0;100;0 5.1 False ENSG00000182934 ENSG00000182934 HGNC:11307 STIM1 gene STIM1 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stormorken syndrome, 185070 25577287 False 2 50;50;0 5.1 False ENSG00000167323 ENSG00000167323 HGNC:11386 TCIRG1 gene TCIRG1 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted severe congenital neutropenia, MONDO:0018542 24753205;35573728 False 2 0;100;0 5.1 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 False 2 0;100;0 5.1 False ENSG00000185339 ENSG00000185339 HGNC:11653 TSR2 gene TSR2 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Cytopenia - NOT Fanconi anaemia Haematology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 24942156;20301769 False 2 0;100;0 5.1 False ENSG00000158526 ENSG00000158526 HGNC:25455 TUBA8 gene TUBA8 Expert Review Amber;Literature Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia, isolated, 2, autosomal dominant, OMIM:619840 34704371 False 2 0;100;0 5.1 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB1 gene TUBB1 Expert review Amber;Expert Review Amber;London South GLH;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Cytopenia - NOT Fanconi anaemia Haematology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia, 613112 18849486 False 2 0;50;50 5.1 False ENSG00000101162 ENSG00000101162 HGNC:16257