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 ATM gene ATM Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM# 208900 False 3 100;0;0 1.21 True ENSG00000149311 ENSG00000149311 HGNC:795 BLM gene BLM Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 False 3 100;0;0 1.21 True ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA1 gene BRCA1 Expert list;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group S, MIM# 617883" 23269703;29133208;25472942;29712865 False 3 100;0;0 1.21 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, MIM# 605724 False 3 100;0;0 1.21 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, MIM# 609054 False 3 100;0;0 1.21 True ENSG00000136492 ENSG00000136492 HGNC:20473 CDCA7 gene CDCA7 Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910;MONDO:0014828" 26216346 False 3 100;0;0 1.21 True ENSG00000144354 ENSG00000144354 HGNC:14628 DDB2 gene DDB2 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 33544716;32457468;32239545;32228487 False 3 100;0;0 1.21 True ENSG00000134574 ENSG00000134574 HGNC:2718 DDX11 gene DDX11 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, MIM# 613398;MONDO:0013252 20137776;23033317;30216658 False 3 100;0;0 1.21 True ENSG00000013573 ENSG00000013573 HGNC:2736 DNMT3B gene DNMT3B Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860" 10647011;23486536 False 3 100;0;0 1.21 True ENSG00000088305 ENSG00000088305 HGNC:2979 ERCC1 gene ERCC1 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, MIM# 610758;MONDO:0012554 17273966;23623389;32557569;26085086;33315086 False 3 100;0;0 1.21 True ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 2, MIM# 610756;MONDO:0012553;Trichothiodystrophy 1, photosensitive, MIM# 601675;MONDO:0011125;Xeroderma pigmentosum, group D, MIM# 278730;MONDO:0010212 7849702;9758621;11443545;33733458 False 3 100;0;0 1.21 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, MIM# 616390;Xeroderma pigmentosum, group B 61, MIM#0651 2167179;10447254;16947863;9012405;32557569;27004399 False 3 100;0;0 1.21 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, MIM# 615272;MONDO:0014108;Xeroderma pigmentosum, group F, MIM# 278760;MONDO:0010215;XFE progeroid syndrome, MIM# 610965;MONDO:0012590 23623386;8797827;23623389;17183314;29105242 False 3 100;0;0 1.21 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570;MONDO:0014696;Xeroderma pigmentosum, group G, MIM# 278780;MONDO:0010216 7951246;9096355;9096355;24700531;33766032;33219753 False 3 100;0;0 1.21 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 1, MIM# 214150;MONDO:0008955;Cockayne syndrome, type B, MIM# 133540;MONDO:0019570;De Sanctis-Cacchione syndrome, MIM# 278800;MONDO:0010217;UV-sensitive syndrome 1, MIM# 600630;MONDO:0010909 19894250 False 3 100;0;0 1.21 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400;MONDO:0019569;UV-sensitive syndrome 2, MIM# 614621;MONDO:0013829 7664335;19894250 False 3 100;0;0 1.21 True ENSG00000049167 ENSG00000049167 HGNC:3439 FANCA gene FANCA Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 10094191 False 3 100;0;0 1.21 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514;MONDO:0010351 15502827 False 3 100;0;0 1.21 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645;MONDO:0009213 31044565;30792206;28717661 False 3 100;0;0 1.21 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 17436244 False 3 100;0;0 1.21 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 1.21 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 10615118;31288759 False 3 100;0;0 1.21 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 9806548;12552564 False 3 100;0;0 1.21 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 17452773 False 3 100;0;0 1.21 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 19405097;25754594;33394227;33224012 False 3 100;0;0 1.21 True ENSG00000115392 ENSG00000115392 HGNC:20748 GTF2H5 gene GTF2H5 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, MIM# 616395;MONDO:0014619 15220921;30359777;24986372 False 3 100;0;0 1.21 True ENSG00000272047 ENSG00000272047 HGNC:21157 HELLS gene HELLS Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911;MONDO:0014829" 26216346 False 3 100;0;0 1.21 True ENSG00000119969 ENSG00000119969 HGNC:4861 LIG4 gene LIG4 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593 11779494;16088910;15333585;20133615 False 3 100;0;0 1.21 True ENSG00000174405 ENSG00000174405 HGNC:6601 MPLKIP gene MPLKIP Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, MIM# 234050;MONDO:0021013 15645389;16977596 False 3 100;0;0 1.21 True ENSG00000168303 ENSG00000168303 HGNC:16002 MRE11 gene MRE11 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1, MIM# 604391;MONDO:0024557 10612394;11371508;15269180;22863007;24332946;21227757 False 3 100;0;0 1.21 True ENSG00000020922 ENSG00000020922 HGNC:7230 NBN gene NBN Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260;MONDO:0009623 33488600;33082212 False 3 100;0;0 1.21 True ENSG00000104320 ENSG00000104320 HGNC:7652 NHEJ1 gene NHEJ1 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;MONDO:0012650 16439204;16439205 False 3 100;0;0 1.21 True ENSG00000187736 ENSG00000187736 HGNC:25737 PALB2 gene PALB2 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 False 3 100;0;0 1.21 True ENSG00000083093 ENSG00000083093 HGNC:26144 PNKP gene PNKP Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Ataxia-oculomotor apraxia 4, MIM# 616267;Microcephaly, seizures, and developmental delay, MIM# 613402" 20118933;25728773 False 3 100;0;0 1.21 True ENSG00000039650 ENSG00000039650 HGNC:9154 POLH gene POLH Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, MIM# 278750;MONDO:0010214 10385124;10398605 False 3 100;0;0 1.21 True ENSG00000170734 ENSG00000170734 HGNC:9181 RAD50 gene RAD50 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, MIM# 613078;MONDO:0013118 19409520;32212377;33378670 False 3 100;0;0 1.21 True ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51 gene RAD51 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anaemia, complementation group R, MIM# 617244 26253028;26681308;30907510 False 3 100;0;0 1.21 True ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O, MIM# 613390 20400963;29278735 False 3 100;0;0 1.21 True ENSG00000108384 ENSG00000108384 HGNC:9820 RECQL4 gene RECQL4 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, MIM# 268400;RAPADILINO syndrome, MIM# 266280;Baller-Gerold syndrome, MIM# 218600;RECON progeroid syndrome, MIM# 620370 10319867;12952869;15964893;35025765 False 3 100;0;0 1.21 True ENSG00000160957 ENSG00000160957 HGNC:9949 RNF113A gene RNF113A Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Trichothiodystrophy 5, nonphotosensitive;OMIM #300953 25612912;31793730;31880405 False 3 100;0;0 1.21 True ENSG00000125352 ENSG00000125352 HGNC:12974 RNF168 gene RNF168 Expert Review Green;Literature Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal RIDDLE syndrome MIM# 611943;Radiosensitivity;Immune Deficiency;Dysmorphic Features;Learning difficulties;Low IgG or IgA;Short stature;mild defect of motor control to ataxia;normal intelligence to learning difficulties;mild facial dysmorphism to microcephaly 19203578;21394101;29255463;21552324 False 3 100;0;0 1.21 True ENSG00000163961 ENSG00000163961 HGNC:26661 SLF2 gene SLF2 Expert Review Green;Literature Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 1, MIM# 620184 36333305 False 3 100;0;0 1.21 True ENSG00000119906 ENSG00000119906 HGNC:17814 SLX4 gene SLX4 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, MIM# 613951;MONDO:0013499 21240275;21240277 False 3 100;0;0 1.21 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMC5 gene SMC5 Expert Review Green;Literature Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 2, MIM# 620185 36333305 False 3 100;0;0 1.21 True ENSG00000198887 ENSG00000198887 HGNC:20465 SPRTN gene SPRTN Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ruijs-Aalfs syndrome, MIM# 616200;MONDO:0014527 25261934 False 3 100;0;0 1.21 True ENSG00000010072 ENSG00000010072 HGNC:25356 TOP3A gene TOP3A Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809 30057030;33631320 False 3 100;0;0 1.21 True ENSG00000177302 ENSG00000177302 HGNC:11992 UBE2T gene UBE2T Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T, MIM# 616435 26046368 False 3 100;0;0 1.21 True ENSG00000077152 ENSG00000077152 HGNC:25009 XPA gene XPA Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A , MIM#278700;MONDO:0010210 2234061;1372102 False 3 100;0;0 1.21 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, MIM# 278720;MONDO:0010211 10447254 False 3 100;0;0 1.21 True ENSG00000154767 ENSG00000154767 HGNC:12816 XRCC4 gene XRCC4 Expert Review Green;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, MIM# 616541;MONDO:0014686 24389050;25728776;25872942 False 3 100;0;0 1.21 True ENSG00000152422 ENSG00000152422 HGNC:12831 ZBTB24 gene ZBTB24 Expert Review;Expert Review Green Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069;MONDO:0013553" 21596365;21906047;23486536 False 3 100;0;0 1.21 True ENSG00000112365 ENSG00000112365 HGNC:21143 AARS gene AARS Expert Review Amber;Literature Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Trichothiodystrophy, MONDO:0018053;Trichothiodystrophy 8, nonphotosensitive 619691" 33909043 False 2 0;100;0 1.21 True ENSG00000090861 ENSG00000090861 HGNC:20 GTF2E2 gene GTF2E2 Expert Review Amber;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 6, nonphotosensitive, MIM# 616943;MONDO:0014841 26996949 False 2 0;100;0 1.21 True ENSG00000197265 ENSG00000197265 HGNC:4651 RFWD3 gene RFWD3 Expert list;Expert Review Amber Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group W, MIM# 617784" 28691929;38058754 False 2 0;50;50 1.21 True ENSG00000168411 ENSG00000168411 HGNC:25539 RMI2 gene RMI2 Expert Review Amber;Victorian Clinical Genetics Services Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bloom-like syndrome 27977684 False 2 0;100;0 1.21 True ENSG00000175643 ENSG00000175643 HGNC:28349 XRCC2 gene XRCC2 Expert list;Expert Review Amber Chromosome Breakage Disorders Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U, MIM# 617247 27208205;22232082;11118202 False 2 0;100;0 1.21 True ENSG00000196584 ENSG00000196584 HGNC:12829