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 list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Bloom syndrome, MONDO:0008876;Bloom syndrome, MIM#210900 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000197299 ENSG00000197299 HGNC:1058 BRCA2 gene BRCA2 Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Fanconi anemia complementation group D1,MONDO:0011584;Fanconi anemia, complementation group D1, MIM#605724 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000139618 ENSG00000139618 HGNC:1101 BUB1B gene BUB1B Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Mosaic variegated aneuploidy syndrome 1, MONDO:0009759;Mosaic variegated aneuploidy syndrome 1, MIM#257300 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000156970 ENSG00000156970 HGNC:1149 CDKN1C gene CDKN1C Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476;Beckwith-Wiedemann syndrome, MIM#130650 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000129757 ENSG00000129757 HGNC:1786 CTR9 gene CTR9 Expert list;Expert Review;Expert Review Green;Literature Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Wilms tumor predisposition, no MIM# Nephroblastoma;HP:0002667 25099282;39293508;29292210 False 3 100;0;0 1.0 True ENSG00000198730 ENSG00000198730 HGNC:16850 DIS3L2 gene DIS3L2 Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Perlman syndrome, MONDO:0009965;Perlman syndrome, MIM#267000 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000144535 ENSG00000144535 HGNC:28648 GPC3 gene GPC3 Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition X-LINKED: hemizygous mutation in males, biallelic mutations in females Wilms tumor, MONDO:0006058;Simpson-Golabi-Behmel syndrome type 1, MONDO:0020602;Simpson-Golabi-Behmel syndrome, type 1, MIM#312870 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000147257 ENSG00000147257 HGNC:4451 PALB2 gene PALB2 Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Fanconi anemia complementation group N, MONDO:0012565;Fanconi anemia, complementation group N, MIM#610832 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000083093 ENSG00000083093 HGNC:26144 REST gene REST Expert list;Expert Review;Expert Review Green;Literature Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Wilms tumor 6, MONDO:0014779;Wilms tumor 6, susceptibility to, MIM#616806 Nephroblastoma;HP:0002667 PMID: 26551668 False 3 100;0;0 1.0 True ENSG00000084093 ENSG00000084093 HGNC:9966 TRIM28 gene TRIM28 Expert list;Expert Review;Expert Review Green;Literature Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Wilms tumor predisposition, no MIM# Nephroblastoma;HP:0002667 PMID: 29912901, 30694527, 30885698, 33565090 False 3 100;0;0 1.0 True ENSG00000130726 ENSG00000130726 HGNC:16384 TRIM37 gene TRIM37 Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Mulibrey nanism, MONDO:0009664;Mulibrey nanism, MIM#253250 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP13 gene TRIP13 Expert list;Expert Review;Expert Review Green;Literature Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Mosaic variegated aneuploidy syndrome 3, MONDO:0054736;Mosaic variegated aneuploidy syndrome 3, MIM#617598 Nephroblastoma;HP:0002667 PMID: 28553959 False 3 100;0;0 1.0 True ENSG00000071539 ENSG00000071539 HGNC:12307 WT1 gene WT1 Expert list;Expert Review;Expert Review Green Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Wilms tumor 1, MONDO:0008679;Wilms tumor, type 1, MIM#194070;Denys-Drash syndrome, MIM#194080;Frasier syndrome, MIM#136680 Nephroblastoma;HP:0002667 False 3 100;0;0 1.0 True ENSG00000184937 ENSG00000184937 HGNC:12796 DICER1 gene DICER1 Expert list;Expert Review;Expert Review Amber Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;DICER1-related tumor predisposition, MONDO:0100216;DICER1 syndrome, MIM#601200 Nephroblastoma;HP:0002667 False 2 0;100;0 1.0 True ENSG00000100697 ENSG00000100697 HGNC:17098 FBXW7 gene FBXW7 Expert list;Expert Review;Expert Review Amber;Literature Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Wilms tumour, no MIM# Nephroblastoma;HP:0002667 PMID: 30885698 False 2 0;100;0 1.0 True ENSG00000109670 ENSG00000109670 HGNC:16712 NYNRIN gene NYNRIN Expert list;Expert Review;Expert Review Amber;Literature Wilms Tumour Cancer Predisposition BIALLELIC, autosomal or pseudoautosomal Wilms tumor, MONDO:0006058;Wilms tumour, no MIM# Nephroblastoma;HP:0002667 PMID: 30885698 False 2 0;100;0 1.0 True ENSG00000205978 ENSG00000205978 HGNC:20165 AMER1 gene AMER1 Expert list;Expert Review;Expert Review Red;Literature Wilms Tumour Cancer Predisposition X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Wilms tumor, MONDO:0006058;Osteopathia striata with cranial sclerosis, MONDO:0010310;Osteopathia striata with cranial sclerosis. MIM#300373 Nephroblastoma;HP:0002667 PMID: 32879452 False 1 0;0;100 1.0 True ENSG00000184675 ENSG00000184675 HGNC:26837 ASXL1 gene ASXL1 Expert list;Expert Review;Expert Review Red Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Bohring-Opitz syndrome, MONDO:0011510;Bohring-Opitz syndrome, MIM#605039 Nephroblastoma;HP:0002667 False 1 0;0;100 1.0 True ENSG00000171456 ENSG00000171456 HGNC:18318 CDC73 gene CDC73 Expert list;Expert Review;Expert Review Red;Literature Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Hyperparathyroidism 2 with jaw tumors, MONDO:0007768;Hyperparathyroidism-jaw tumor syndrome, MIM#145001;Hyperparathyroidism, familial primary, MIM#145000 Nephroblastoma;HP:0002667 PMID: 37339334, 7912571, 7717405 False 1 0;0;100 1.0 True ENSG00000134371 ENSG00000134371 HGNC:16783 CTCF gene CTCF Expert list;Expert Review;Expert Review Red;Literature Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Intellectual developmental disorder, autosomal dominant 21, MIM#615502 Nephroblastoma;HP:0002667 PMID: 31239556, 35459888, 36454652 False 1 0;0;100 1.0 True ENSG00000102974 ENSG00000102974 HGNC:13723 PIK3CA gene PIK3CA Expert list;Expert Review;Expert Review Red Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;PIK3CA-related overgrowth spectrum, MONDO:1040002;PIK3CA-related overgrowth syndrome, multiple MIM# Nephroblastoma;HP:0002667 False 1 0;0;100 1.0 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 TP53 gene TP53 Expert list;Expert Review;Expert Review Red Wilms Tumour Cancer Predisposition MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Li-Fraumeni syndrome, MONDO:0018875;Li-Fraumeni syndrome, MIM#151623 Nephroblastoma;HP:0002667 False 1 0;0;100 1.0 True ENSG00000141510 ENSG00000141510 HGNC:11998