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 ALK gene ALK Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Neuroblastoma, susceptibility to, 3}, OMIM:613014;neuroblastoma, susceptibility to, 3, MONDO:0013083 False 3 100;0;0 0.10 False ENSG00000171094 ENSG00000171094 HGNC:427 BUB1B gene BUB1B Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, OMIM:257300;mosaic variegated aneuploidy syndrome 1, MONDO:0009759 False 3 100;0;0 0.10 False ENSG00000156970 ENSG00000156970 HGNC:1149 CBL gene CBL Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CBL-related disorder, MONDO:0013308;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563;?Juvenile myelomonocytic leukemia, OMIM:607785 False 3 100;0;0 0.10 False ENSG00000110395 ENSG00000110395 HGNC:1541 CDKN1C gene CDKN1C Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, MONDO:0007534;Beckwith-Wiedemann syndrome, OMIM:130650 False 3 100;0;0 0.10 False ENSG00000129757 ENSG00000129757 HGNC:1786 CTR9 gene CTR9 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058 False 3 100;0;0 0.10 False ENSG00000198730 ENSG00000198730 HGNC:16850 DICER1 gene DICER1 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rhabdomyosarcoma, embryonal, 2, OMIM:180295;DICER1-related tumor predisposition, MONDO:0100216;rhabdomyosarcoma, embryonal, 2, MONDO:0859046;Pleuropulmonary blastoma, OMIM:601200;Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800 False 3 100;0;0 0.10 False ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, MONDO:0009965;Perlman syndrome, OMIM:267000 False 3 100;0;0 0.10 False ENSG00000144535 ENSG00000144535 HGNC:28648 ELP1 gene ELP1 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Medulloblastoma}, OMIM:155255 False 3 100;0;0 0.10 False ENSG00000070061 ENSG00000070061 HGNC:5959 EZH2 gene EZH2 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver syndrome, OMIM:277590;Weaver syndrome, MONDO:0010193 False 3 100;0;0 0.10 False ENSG00000106462 ENSG00000106462 HGNC:3527 GPC3 gene GPC3 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602;Simpson-Golabi-Behmel syndrome, type 1, OMIM:312870 False 3 100;0;0 0.10 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPR161 gene GPR161 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Medulloblastoma predisposition syndrome}, OMIM:155255 False 3 100;0;0 0.10 False ENSG00000143147 ENSG00000143147 HGNC:23694 HRAS gene HRAS Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, MONDO:0009026;Costello syndrome, OMIM:218040 False 3 100;0;0 0.10 False ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 3, MONDO:0012371;cardiofaciocutaneous syndrome 2, MONDO:0014112;Cardiofaciocutaneous syndrome 2, OMIM:615278;RAS-associated autoimmune leukoproliferative disorder, OMIM:614470;Noonan syndrome 3, OMIM:609942 False 3 100;0;0 0.10 False ENSG00000133703 ENSG00000133703 HGNC:6407 PHOX2B gene PHOX2B Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026;neuroblastoma, susceptibility to, 2, MONDO:0700041;{Neuroblastoma, susceptibility to, 2}, OMIM:613013;Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880 False 3 100;0;0 0.10 False ENSG00000109132 ENSG00000109132 HGNC:9143 PTCH1 gene PTCH1 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome 1, OMIM:109400;basal cell nevus syndrome 1, MONDO:0958174 False 3 100;0;0 0.10 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTPN11 gene PTPN11 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1, MONDO:0008104;Noonan syndrome 1, OMIM:163950 False 3 100;0;0 0.10 False ENSG00000179295 ENSG00000179295 HGNC:9644 REST gene REST Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor 6, MONDO:0014779;{Wilms tumor 6, susceptibility to}, OMIM:616806 False 3 100;0;0 0.10 False ENSG00000084093 ENSG00000084093 HGNC:9966 SMARCA4 gene SMARCA4 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rhabdoid tumor predisposition syndrome 2, MONDO:0013224;{Rhabdoid tumor predisposition syndrome 2}, OMIM:613325 False 3 100;0;0 0.10 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMARCB1-related schwannomatosis, MONDO:0024517;rhabdoid tumor predisposition syndrome 1, MONDO:0012252;{Schwannomatosis-1, susceptibility to}, OMIM:162091;{Rhabdoid tumor predisposition syndrome 1}, OMIM:609322 False 3 100;0;0 0.10 False ENSG00000099956 ENSG00000099956 HGNC:11103 SOS1 gene SOS1 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4, OMIM:610733;Noonan syndrome 4, MONDO:0012547 False 3 100;0;0 0.10 False ENSG00000115904 ENSG00000115904 HGNC:11187 SUFU gene SUFU Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Medulloblastoma}, OMIM:155255;Basal cell nevus syndrome 2, OMIM:620343;{Meningioma, familial, susceptibility to}, OMIM:607174;basal cell nevus syndrome 2, MONDO:0958189 False 3 100;0;0 0.10 False ENSG00000107882 ENSG00000107882 HGNC:16466 TP53 gene TP53 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Colorectal cancer}, OMIM:114500;{Adrenocortical carcinoma, pediatric}, OMIM:202300;choroid plexus papilloma, MONDO:0009837;{Choroid plexus papilloma}, OMIM:260500;Li-Fraumeni syndrome, MONDO:0018875;nasopharyngeal carcinoma, susceptibility to, 1, MONDO:0011775;{Basal cell carcinoma 7}, OMIM:614740;Li-Fraumeni syndrome, OMIM:151623;basal cell carcinoma, susceptibility to, 7, MONDO:0013876;{Glioma susceptibility 1}, OMIM:137800;adrenocortical carcinoma, hereditary, MONDO:0008734 False 3 100;0;0 0.10 False ENSG00000141510 ENSG00000141510 HGNC:11998 TRIM28 gene TRIM28 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor 7, MONDO:0979876;Wilms tumor 7, OMIM:621332 False 3 100;0;0 0.10 False ENSG00000130726 ENSG00000130726 HGNC:16384 TRIM37 gene TRIM37 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer BIALLELIC, autosomal or pseudoautosomal mulibrey nanism, MONDO:0009664;Mulibrey nanism, OMIM:253250 False 3 100;0;0 0.10 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP13 gene TRIP13 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, OMIM:617598;mosaic variegated aneuploidy syndrome 3, MONDO:0054736 False 3 100;0;0 0.10 False ENSG00000071539 ENSG00000071539 HGNC:12307 WT1 gene WT1 Expert Review Green;NHS GMS Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frasier syndrome, OMIM:136680;Wilms tumor, type 1, OMIM:194070;Wilms tumor 1, MONDO:0008679;Frasier syndrome, MONDO:0007635;Denys-Drash syndrome, OMIM:194080;Denys-Drash syndrome, MONDO:0008682 False 3 100;0;0 0.10 False ENSG00000184937 ENSG00000184937 HGNC:12796 ISCA-37401-Loss region ClinGen;Expert Review Green Embryonal tumour of possible germline origin Inherited cancer MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072;WAGR syndrome, MONDO:0008681 False 3 100;0;0 0.10 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss