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 BLM gene BLM Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 False 3 75;25;0 2.13 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA1 gene BRCA1 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, OMIM:617883 25472942;28122244;26644450 False 3 50;50;0 2.13 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 28185119;14670928;12065746;11239453;24395671 False 3 75;25;0 2.13 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 16116424;16153896;14630800;16116423 False 3 75;25;0 2.13 False ENSG00000136492 ENSG00000136492 HGNC:20473 ERCC4 gene ERCC4 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272;615272 Fanconi anemia, complementation group Q 24027083;23623386;23623389 False 3 75;25;0 2.13 False ENSG00000175595 ENSG00000175595 HGNC:3436 FANCA gene FANCA Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650;Fanconi anemia;227650 Fanconi anemia complementation group A 8896563 False 3 75;25;0 2.13 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Falcon anemia;Fanconi Anemia Type B;300514 Fanconi anemia, complementation group B;Fanconi Anemia, X-Linked;Fanconi Anaemia;Fanconi anemia, complementation group B, 300514 False 3 75;25;0 2.13 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;227645 Fanconi anemia, complementation group C;Fanconi anemia, complementation group C, 227645 1574115 False 3 75;25;0 2.13 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;227646 Fanconi anemia, complementation group D2;Fanconi anemia, complementation group D2, 227646 11239454 False 3 75;25;0 2.13 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group E, 600901;600901 Fanconi anemia, complementation group E 9147877;9382107;10205272;7662964 False 3 75;25;0 2.13 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;603467 Fanconi anemia, complementation group F;Fanconi anemia, complementation group F, 603467 10615118 False 3 75;25;0 2.13 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;614082 Fanconi anemia, complementation group G;Fanconi anemia, complementation group G, 614082 9806548 False 3 75;25;0 2.13 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, 609053;Fanconi Anemia;609053 Fanconi anemia, complementation group I 17452773;11239453 False 3 75;25;0 2.13 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group L, 614083;614083Fanconi anemia, complementation group L 16474160;12724401;25754594;12973351;19405097 False 3 75;25;0 2.13 False ENSG00000115392 ENSG00000115392 HGNC:20748 PALB2 gene PALB2 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, 610832;610832 Fanconi anemia, complementation group N 17200672;17200671 False 3 75;25;0 2.13 False ENSG00000083093 ENSG00000083093 HGNC:26144 RAD51 gene RAD51 Expert Review Green;Literature;NHS GMS Confirmed Fanconi anaemia or Bloom syndrome Haematology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R, OMIM:617244 26681308;26253028;30907510 False 3 100;0;0 2.13 False ENSG00000051180 ENSG00000051180 HGNC:9817 SLX4 gene SLX4 Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;613951 Fanconi Anemia Fanconi anemia, complementation group P;Fanconi anemia, complementation group P, 613951 21240275;21240277 False 3 75;25;0 2.13 False ENSG00000188827 ENSG00000188827 HGNC:23845 TOP3A gene TOP3A Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2;618097 MGRISCE2 (Bloom-like syndrome);MGRISCE2 (Bloom-like syndrome) 618097 False 3 75;25;0 2.13 False ENSG00000177302 ENSG00000177302 HGNC:11992 UBE2T gene UBE2T Expert Review Green;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal 616435 Fanconi anemia, complementation group T;Falcon anemia;Fanconi anemia, complementation group T, 616435 26046368 False 3 75;25;0 2.13 False ENSG00000077152 ENSG00000077152 HGNC:25009 FAAP100 gene FAAP100 Expert Review Amber;Literature Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group X, OMIM:621258;Fanconi anemia, MONDO:0019391 40232843;40244696 False 2 100;0;0 2.13 False ENSG00000185504 ENSG00000185504 HGNC:26171 MAD2L2 gene MAD2L2 Expert Review Amber;NHS GMS;North West GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group V, 617243;617243 ?Fanconi anemia, complementation group V False 2 0;100;0 2.13 False ENSG00000116670 ENSG00000116670 HGNC:6764 RAD51C gene RAD51C Expert Review Amber;NHS GMS;North West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fanconi anemia, complementation group O, OMIM:613390;Fanconi anemia complementation group O, MONDO:0013248 20400963;22232082;26681308;29278735;37031326 False 2 20;80;0 2.13 False ENSG00000108384 ENSG00000108384 HGNC:9820 XRCC2 gene XRCC2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal ?Fanconi anemia, complementation group U, OMIM:617247;Fanconi anemia complementation group U, MONDO:0014987 22232082;27208205 False 2 33;33;33 2.13 False ENSG00000196584 ENSG00000196584 HGNC:12829 FANCM gene FANCM Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Confirmed Fanconi anaemia or Bloom syndrome Haematology BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;614087Fanconi anemia, complementation group M;Fanconi anemia, complementation group M, 614087 19423727;25078778;16116422;28837162 False 1 33;33;33 2.13 False ENSG00000187790 ENSG00000187790 HGNC:23168