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 AKT1 gene AKT1 Expert Review Red;Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility IGH Breast cancer, somatic, 114480; Colorectal cancer, somatic, 114500; Ovarian cancer, somatic, 167000; {Schizophrenia, susceptibility to}, 181500 (2); Proteus syndrome, somatic, 176920; Cowden syndrome 6, 615109 PMID: 23246288 False 1 0;0;0 5.10 True ENSG00000142208 ENSG00000142208 HGNC:391 FANCM gene FANCM Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group M, 614087;Fanconi Anemia;Fanconi Anaemia 16116422;19423727;25078778 False 1 0;0;0 5.10 True ENSG00000187790 ENSG00000187790 HGNC:23168 H19 gene H19 Emory Genetics Laboratory;Expert Review Red;UKGTN Childhood solid tumours Cancer susceptibility Beckwith-Wiedemann Syndrome;Russell-Silver Syndrome;Silver-Russell Syndrome False 1 0;0;0 5.10 True ENSG00000130600 ENSG00000130600 HGNC:4713 IGF2 gene IGF2 Expert Review Red;UKGTN Childhood solid tumours Cancer susceptibility Beckwith-Wiedemann Syndrome False 1 0;0;100 5.10 True ENSG00000167244 ENSG00000167244 HGNC:5466 KCNQ1OT1 gene KCNQ1OT1 Emory Genetics Laboratory;Expert Review Red;UKGTN Childhood solid tumours Cancer susceptibility Beckwith-Wiedemann Syndrome False 1 0;0;100 5.10 True ENSG00000269821 ENSG00000269821 HGNC:6295 KLLN gene KLLN Expert Review Red;Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility Cowden syndrome 4, 615107 False 1 0;0;0 5.10 True ENSG00000227268 ENSG00000227268 HGNC:37212 MTAP gene MTAP Expert List Childhood solid tumours Cancer susceptibility False 1 100;0;0 5.10 False ENSG00000099810 ENSG00000099810 HGNC:7413 NFIX gene NFIX Expert Review Red;Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility Marshall-Smith syndrome, 602535; Sotos syndrome 2, 614753 False 1 0;0;100 5.10 True ENSG00000008441 ENSG00000008441 HGNC:7788 NHP2 gene NHP2 Expert List;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Dyskeratosis Congenita 22965356 False 1 100;0;0 5.10 False ENSG00000145912 ENSG00000145912 HGNC:14377 NOTCH3 gene NOTCH3 Literature Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myofibromatosis, infantile 2, OMIM:615293 23731542 False 1 0;0;0 5.10 False ENSG00000074181 ENSG00000074181 HGNC:7883 NRAS gene NRAS Expert List;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardio-Facio-cutanenous syndrome;Noonan syndrome 6 613224;CFC Syndrome 23875798 False 1 100;0;0 5.10 False ENSG00000213281 ENSG00000213281 HGNC:7989 PAX6 gene PAX6 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Morning glory disc anomaly, 120430; Aniridia, 106210; Cataract with late-onset corneal dystrohpy, 106210; Coloboma of optic nerve, 120430; Coloboma, ocular, 120200; Foveal hypoplasia 1, 136520; Gillespie syndrome, 206700; Keratitis, 148190; Optic nerve hypoplasia, 165550; Peters anomaly, 604229;Wagner Syndrome;Aniridia;PAX6-related Disorders;Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome False 1 0;0;0 5.10 True ENSG00000007372 ENSG00000007372 HGNC:8620 PIK3CA gene PIK3CA Expert Review Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 1 report of several families in PTEN-negative Cowden PMID: 23246288 False 1 0;0;0 5.10 False 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 SDHB gene SDHB Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paragangliomas 4, OMIM:115310;Pheochromocytoma, OMIM:171300;Paraganglioma and gastric stromal sarcoma, OMIM:606864;Gastrointestinal stromal tumor, OMIM:606764 False 1 0;0;0 5.10 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 False 1 0;0;0 5.10 False ENSG00000204370 ENSG00000204370 HGNC:10683 SPRED1 gene SPRED1 NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Legius syndrome 611431 23875798 False 1 0;0;100 5.10 False ENSG00000166068 ENSG00000166068 HGNC:20249 SQSTM1 gene SQSTM1 Expert List Childhood solid tumours Cancer susceptibility False 1 100;0;0 5.10 False ENSG00000161011 ENSG00000161011 HGNC:11280 T gene T Expert List;Expert Review Red Childhood solid tumours Cancer susceptibility False 1 100;0;0 5.10 False ENSG00000164458 ENSG00000164458 HGNC:11515 TNFRSF11A gene TNFRSF11A Expert List Childhood solid tumours Cancer susceptibility False 1 100;0;0 5.10 False ENSG00000141655 ENSG00000141655 HGNC:11908