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 Eligibility statement prior genetic testing;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown bilateral neuroblastoma; {Neuroblastoma, susceptibility to, 3} ;Familial neuroblastoma 18724359 False 3 100;0;0 5.10 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171094 ENSG00000171094 HGNC:427 APC gene APC Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Adenomatous Polyposis;175100 23788249 False 3 100;0;0 5.10 True ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 9288106 False 3 100;0;0 5.10 False ENSG00000149311 ENSG00000149311 HGNC:795 BAP1 gene BAP1 Expert Review;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tumor predisposition syndrome 1, OMIM:614327;{Uveal melanoma, susceptibility to, 2}, OMIM:606661 23552620;30517737;31382694;https://doi.org/10.1016/j.ejcped.2023.100023;29981911 False 3 100;0;0 5.10 False ENSG00000163930 ENSG00000163930 HGNC:950 BLM gene BLM Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 11257107 False 3 100;0;0 5.10 True ENSG00000197299 ENSG00000197299 HGNC:1058 BMPR1A gene BMPR1A Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal, 174900;Hereditary Mixed Polyposis Syndrome 2, 610069;Hereditary Mixed Polyposis Syndrome 23539595 False 3 100;0;0 5.10 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370 23788249 False 3 100;0;0 5.10 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724;Wilms tumor, OMIM:194070;{Glioblastoma 3}, OMIM:613029;{Medulloblastoma}, OMIM:155255 23788249 False 3 100;0;0 5.10 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 21964575 False 3 100;0;0 5.10 True ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1B gene BUB1B Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1 257300;257300 15475955 False 3 100;0;0 5.10 True ENSG00000156970 ENSG00000156970 HGNC:1149 CBL gene CBL Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 613563;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 23875798 False 3 100;0;0 5.10 True ENSG00000110395 ENSG00000110395 HGNC:1541 CDC73 gene CDC73 Expert list;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 145001 2123361 False 3 100;0;0 5.10 True ENSG00000134371 ENSG00000134371 HGNC:16783 CDKN1C gene CDKN1C Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome, OMIM:130650 10424812;7550351;7729684;8610162 False 3 100;0;0 5.10 True ENSG00000129757 ENSG00000129757 HGNC:1786 CDKN2A gene CDKN2A Expert Review;Expert Review Green;Literature;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma, cutaneous malignant, 2}, OMIM:155601;{Melanoma and neural system tumor syndrome}, OMIM:155755;{Melanoma-pancreatic cancer syndrome}, OMIM:606719 24451801;30207590 False 3 100;0;0 5.10 False ENSG00000147889 ENSG00000147889 HGNC:1787 CTR9 gene CTR9 Expert list;Expert Review Green Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Wilms tumor 25099282;29292210 False 3 100;0;0 5.10 False ENSG00000198730 ENSG00000198730 HGNC:16850 DDB2 gene DDB2 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 12812979;21107348;26884178;104693112 False 3 100;0;0 5.10 False ENSG00000134574 ENSG00000134574 HGNC:2718 DICER1 gene DICER1 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, OMIM:138800;Pleuropulmonary blastoma, OMIM:601200;Pleuropulmonary blastoma, MONDO:0011014;Rhabdomyosarcoma, embryonal, 2, OMIM:180295;Embryonal rhabdomyosarcoma (disease), MONDO:0009993;DICER1 syndrome;GLOW syndrome;Global developmental delay, lung cysts, overgrowth, and wilms tumor, MONDO:0032647 21205968;33208384 False 3 100;0;0 5.10 True ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, 267000 22306653 False 3 100;0;0 5.10 True ENSG00000144535 ENSG00000144535 HGNC:28648 ELP1 gene ELP1 Expert Review Green;Literature Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medulloblastoma, OMIM:155255 32296180 False 3 100;0;0 5.10 False ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC2 gene ERCC2 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group D, 278730 26884178;28376890 False 3 100;0;0 5.10 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, 610651 26884178;16947863 False 3 100;0;0 5.10 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, type F/Cockayne syndrome, 278760; Fanconi anemia, complementation group Q, 615272; XFE progeroid syndrome, 610965;Xeroderma pigmentosum, group F, 278760 22044607 False 3 100;0;0 5.10 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G, 278780 26884178;10026181;7951246;11841555;9096355;23255472;1206391 False 3 100;0;0 5.10 False ENSG00000134899 ENSG00000134899 HGNC:3437 EZH2 gene EZH2 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver syndrome, 277590;Weaver Syndrome False 3 100;0;0 5.10 True ENSG00000106462 ENSG00000106462 HGNC:3527 FANCA gene FANCA Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, 227650;Fanconi Anemia, Complementation Group A;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi Anemia, Complementation Group C;Fanconi Anemia Type B;Fanconi Anemia, X-Linked;Fanconi anemia, complementation group B, 300514 False 3 100;0;0 5.10 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, 227645;Fanconi Anaemia;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, 227646;Fanconi Anaemia;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, 600901;Fanconi Anaemia;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F, 603467;Fanconi Anaemia;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, 614082;Fanconi Anaemia;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia;Fanconi Anemia;Fanconi anemia, complementation group I, 609053 19686080 False 3 100;0;0 5.10 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, 614083;Fanconi Anaemia;Fanconi Anemia 19686080 False 3 100;0;0 5.10 True ENSG00000115392 ENSG00000115392 HGNC:20748 GPC3 gene GPC3 Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Childhood solid tumours Cancer susceptibility X-LINKED: hemizygous mutation in males, biallelic mutations in females Wilms tumor, somatic, 194070;Simpson-Golabi-Behmel syndrome, type 1, 312870;Wilms tumor, somatic, 194070 False 3 100;0;0 5.10 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPR161 gene GPR161 Expert Review Green;Literature Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Medulloblastoma predisposition syndrome}, OMIM:155255 29386106;31609649 False 3 100;0;0 5.10 False ENSG00000143147 ENSG00000143147 HGNC:23694 HRAS gene HRAS Emory Genetics Laboratory;Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome;Costello syndrome, 218040 23875798 False 3 100;0;0 5.10 False ENSG00000174775 ENSG00000174775 HGNC:5173 KDM3B gene KDM3B Expert Review Green;Literature;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diets-Jongmans syndrome, OMIM:618846 30885698;30929739 False 3 100;0;0 5.10 False ENSG00000120733 ENSG00000120733 HGNC:1337 KRAS gene KRAS Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 3 609942;Cardiofaciocutaneous syndrome 2 615278 23875798 False 3 100;0;0 5.10 False ENSG00000133703 ENSG00000133703 HGNC:6407 MAX gene MAX Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Pheochromocytoma, susceptibility to}, OMIM:171300 33367756;32508744;22452945 False 3 100;0;0 5.10 False ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia;Multiple endocrine neoplasia 1, 131100 23788249 False 3 100;0;0 5.10 False ENSG00000133895 ENSG00000133895 HGNC:7010 MLH1 gene MLH1 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal CMMRD;276300;Lynch Syndrome 23788249 False 3 100;0;0 5.10 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal CMMRD;276300;Lynch Syndrome 23788249 False 3 100;0;0 5.10 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal CMMRD;276300;Lynch Syndrome 23788249 False 3 100;0;0 5.10 True ENSG00000116062 ENSG00000116062 HGNC:7329 NBN gene NBN Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Nijmegen Breakage Syndrome;251260 12833396 False 3 100;0;0 5.10 True ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis-Noonan syndrome, 601321; Leukemia, juvenile myelomonocytic, 607785;Neurofibromatosis, Type I;Neurofibromatosis-Noonan syndrome 601321; Watson syndrome, 193520;Neurofibromatosis, type 1, 162200; Neurofibromatosis, familial spinal, 162210;Neurofibromatosis, Type 1; Melanoma, desmoplastic neurotrophic (2);Neurofibromatosis, type 1 162200 18772890;23875798 False 3 100;0;0 5.10 True ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Meningioma, NF2-related, somatic, 607174; Schwannomatosis, 162091;Neurofibromatosis, Type 2;Neurofibromatosis, Type II;loss of heterozygosity Neurofibromatosis, type 2, 101000;Acoustic neuroma 23788249 False 3 100;0;0 5.10 True ENSG00000186575 ENSG00000186575 HGNC:7773 NSD1 gene NSD1 Emory Genetics Laboratory;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukemia, acute myeloid, 601626 (1) Beckwith-Wiedemann syndrome, 130650;Sotos Syndrome;Weaver Syndrome;Sotos syndrome 1, 117550 False 3 100;0;0 5.10 True ENSG00000165671 ENSG00000165671 HGNC:14234 PALB2 gene PALB2 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia;Fanconi anemia, complementation group N, 610832; {Pancreatic cancer, susceptibility to, 3}, 613348;Fanconi Anemia; {Breast cancer, susceptibility to}, 114480 17200671 False 3 100;0;0 5.10 True ENSG00000083093 ENSG00000083093 HGNC:26144 PDGFRA gene PDGFRA Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510;Familial Gastrointestinal stromal tumour;Familial GIST 17566086;14699510;25975287;17087943 False 3 100;0;0 5.10 False ENSG00000134853 ENSG00000134853 HGNC:8803 PDGFRB gene PDGFRB Expert list;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Infantile myofibromatosis;Myofibromatosis, infantile, 1 228550;Myofibromatosis, infantile, 1 228550" 23731542;23731537 False 3 100;0;0 5.10 True ENSG00000113721 ENSG00000113721 HGNC:8804 PHOX2B gene PHOX2B Eligibility statement prior genetic testing;Expert List;Expert Review Green;NHS GMS;Other Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Clustering of Neuroblastoma 22071890 False 3 100;0;0 5.10 True ENSG00000109132 ENSG00000109132 HGNC:9143 PMS2 gene PMS2 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal CMMRD;276300;Lynch Syndrome 23788249 False 3 100;0;0 5.10 True ENSG00000122512 ENSG00000122512 HGNC:9122 POLH gene POLH Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, OMIM:278750 24877075;11773631;26884178;30511002 False 3 100;0;0 5.10 False ENSG00000170734 ENSG00000170734 HGNC:9181 PRKAR1A gene PRKAR1A Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Primary Pigmented Nodular Adrenocortical disease;Carney Complex 11115848 False 3 100;0;0 5.10 False ENSG00000108946 ENSG00000108946 HGNC:9388 PTCH1 gene PTCH1 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome 1, OMIM:109400;Gorlin syndrome 13851319 False 3 100;0;0 5.10 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Emory Genetics Laboratory;Expert list;Expert List;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Glioma susceptibility 2}, 613028; Macrocephaly/autism syndrome, 605309; VATER association with macrocephaly and ventriculomegaly, 76950; {Prostate cancer, somatic}, 176807; {Meningioma}, 607174; Squamous cell carcinoma, head and neck, somatic, 275355; Prostate cancer, somatic}, 176807;Cowden Disease; Bannayan-Riley-Ruvalcaba syndrome, 153480; Malignant melanoma, somatic, 155600;Cowden syndrome 1, 158350; Endometrial carcinoma, somatic, 608089;Cowden Syndrome; Thyroid carcinoma, follicular, somatic, 188470;Cowden syndrome; Lhermitte-Duclos syndrome, 158350; PTEN hamartoma tumor syndrome; VATER association with macrocephaly and ventriculomegaly, 276950 4635800 False 3 100;0;0 5.10 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome;163950 23926459;23875798 False 3 100;0;0 5.10 True ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 2 611554;Noonan syndrome 5 611553 17603482;23875798 False 3 100;0;0 5.10 False ENSG00000132155 ENSG00000132155 HGNC:9829 RB1 gene RB1 Eligibility statement prior genetic testing;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma, trilateral ;Retinoblastoma 23788249 False 3 100;0;0 5.10 True ENSG00000139687 ENSG00000139687 HGNC:9884 RECQL4 gene RECQL4 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, OMIM:268400 20503338 False 3 100;0;0 5.10 True ENSG00000160957 ENSG00000160957 HGNC:9949 REST gene REST Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 616806;{Wilms tumor 6, susceptibility to} 616806 26551668 False 3 100;0;0 5.10 True ENSG00000084093 ENSG00000084093 HGNC:9966 RET gene RET Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia;MEN2B 162300 23788249 False 3 100;0;0 5.10 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165731 ENSG00000165731 HGNC:9967 RTEL1 gene RTEL1 Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5 615190;615190 DC type 4 and 5;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related;Dyskeratosis congenita, autosomal dominant 4, 615190;Dyskeratosis congenita, autosomal recessive 5, 615190;615190 Dyskeratosis congenita;616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 23453664;23329068;23959892;24582487 False 3 100;0;0 5.10 False ENSG00000258366 ENSG00000258366 HGNC:15888 SHOC2 gene SHOC2 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan-like syndrome with loose anagen hair 19684605;23875798 False 3 100;0;0 5.10 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLX4 gene SLX4 Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Fanconi Anaemia;Fanconi anemia, complementation group P, 613951;Fanconi Anemia False 3 100;0;0 5.10 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD4 gene SMAD4 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal, 174900;Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 15754356 False 3 100;0;0 5.10 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325;Rhabdoid tumor predisposition syndrome 2, MONDO:0013224 24658002 False 3 100;0;0 5.10 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atypical rhabdoid tumor predisposition;609322 12016529 False 3 100;0;0 5.10 True ENSG00000099956 ENSG00000099956 HGNC:11103 SOS1 gene SOS1 Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4 610733 23875798 False 3 100;0;0 5.10 False ENSG00000115904 ENSG00000115904 HGNC:11187 STK11 gene STK11 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz Jeghers syndrome;Peutz-Jeghers syndrome, 175200 23788249 False 3 100;0;0 5.10 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, OMIM:109400;{Medulloblastoma}, OMIM:155255;{Meningioma, familial, susceptibility to}, OMIM:607174 19533801 False 3 100;0;0 5.10 False ENSG00000107882 ENSG00000107882 HGNC:16466 TERC gene TERC Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 1, 127550 22285015 False 3 100;0;0 5.10 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 2, OMIM:613989;Dyskeratosis congenita, autosomal recessive 4, OMIM:613989;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742;{Leukemia, acute myeloid}, OMIM:601626;{Melanoma, cutaneous malignant, 9}, OMIM:615134 22965356;22285015 False 3 100;0;0 5.10 False ENSG00000164362 ENSG00000164362 HGNC:11730 TP53 gene TP53 Eligibility statement prior genetic testing;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adrenocortical carcinoma;Li Fraumeni Syndrome 23788249 False 3 100;0;0 5.10 True ENSG00000141510 ENSG00000141510 HGNC:11998 TRIM28 gene TRIM28 Expert list;Expert Review Green Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor 7, OMIM:621332 29912901;30694527;30885698 False 3 100;0;0 5.10 False ENSG00000130726 ENSG00000130726 HGNC:16384 TRIM37 gene TRIM37 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism 253250;253250 17100991 False 3 100;0;0 5.10 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP13 gene TRIP13 Expert List;Expert Review Green;Literature;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal "Mosaic variegated aneuploidy syndrome 3 617598;Mosaic variegated aneuploidy syndrome 3 617598" 28553959 False 3 100;0;0 5.10 False ENSG00000071539 ENSG00000071539 HGNC:12307 TSC1 gene TSC1 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 191100;Tuberous sclerosis type 1 23788249 False 3 100;0;0 5.10 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 613254;Tuberous sclerosis type 2 23788249 False 3 100;0;0 5.10 True ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown von Hippel-Lindau syndrome, 193300;Familial Paraganglioma and Pheochromocytoma 23788249 False 3 100;0;0 5.10 False ENSG00000134086 ENSG00000134086 HGNC:12687 WRAP53 gene WRAP53 Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988 22285015 False 3 100;0;0 5.10 False ENSG00000141499 ENSG00000141499 HGNC:25522 WRN gene WRN Expert list;Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Werner Syndrome;Werner syndrome, 277700 10440702 False 3 100;0;0 5.10 False ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert List;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wagner Syndrome; Frasier syndrome, 136680; Nephrotic syndrome, type 4, 256370; Denys-Drash syndrome, 194080;Familial Wilms tumor;Wilms Tumor 1;Wilms Tumor; Wilms tumour; Meacham syndrome, 608978; Mesothelioma, somatic, 156240;Denys-Drash Syndrome;Wilms tumor, type 1, 194070 23788249 False 3 100;0;0 5.10 True ENSG00000184937 ENSG00000184937 HGNC:12796 XPA gene XPA Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700 21097776;26975629;30565713;26884178 False 3 100;0;0 5.10 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert List;Expert Review Green;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 21097776;22044607;26975629;30565713 False 3 100;0;0 5.10 False ENSG00000154767 ENSG00000154767 HGNC:12816 ACD gene ACD Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 25233904;25205116 False 2 0;100;0 5.10 False ENSG00000102977 ENSG00000102977 HGNC:25070 BRAF gene BRAF Expert List;Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 7 613706;Cardiofaciocutaneous syndrome 115150;LEOPARD syndrome 3 613707 23875798 False 2 33;67;0 5.10 False ENSG00000157764 ENSG00000157764 HGNC:1097 CTC1 gene CTC1 Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita;Inherited Bone Marrow Failure Syndromes;Dyskeratosis Congenita, Recessive;612199 Coats plus syndrome 22387016;22899577;22267198;22532422 False 2 0;0;0 5.10 False ENSG00000178971 ENSG00000178971 HGNC:26169 DKC1 gene DKC1 Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, autosomal recessive 6, 616353 12522253;11379875;20587522;31027506;18005359;9888995;10364516 False 2 0;100;0 5.10 False ENSG00000130826 ENSG00000130826 HGNC:2890 ERCC1 gene ERCC1 Expert List;Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum, MONDO:0019600;hepatorenal syndrome, MONDO:0001382 40684071 False 2 100;0;0 5.10 False ENSG00000012061 ENSG00000012061 HGNC:3433 FBXW7 gene FBXW7 Expert Review Amber;Literature Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, MONDO:0006058;Rhabdoid tumor, MONDO:0002728 19963109;20332316;26482194;30885698 False 2 100;0;0 5.10 False ENSG00000109670 ENSG00000109670 HGNC:16712 LZTR1 gene LZTR1 Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10 616564;Schwannomatosis-2, susceptibility to 615670 False 2 0;100;0 5.10 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert List;Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome;LEOPARD syndrome;Cardiofaciocutaneous syndrome 3;?Noonan syndrome 23875798 False 2 33;67;0 5.10 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert List;Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 4 615280 23875798 False 2 33;67;0 5.10 False ENSG00000126934 ENSG00000126934 HGNC:6842 NOP10 gene NOP10 Expert List;Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, 224230 17507419 False 2 100;0;0 5.10 False ENSG00000182117 ENSG00000182117 HGNC:14378 NYNRIN gene NYNRIN Expert Review Amber;Literature Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Wilms tumour 30885698 False 2 0;100;0 5.10 False ENSG00000205978 ENSG00000205978 HGNC:20165 PARN gene PARN Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, OMIM:616353;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371 25893599;26342108;25848748 False 2 0;0;0 5.10 False ENSG00000140694 ENSG00000140694 HGNC:8609 PPP1CB gene PPP1CB Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rasopathy with developmental delay, short stature and sparse slow-growing hair;Noonan syndrome-like disorder with loose anagen hair 2, 617506 False 2 0;100;0 5.10 False ENSG00000213639 ENSG00000213639 HGNC:9282 RAD51C gene RAD51C Expert List;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi anemia, complementation group O, 613390;Fanconi Anaemia;Fanconi Anemia 19686080 False 2 100;0;0 5.10 True ENSG00000108384 ENSG00000108384 HGNC:9820 RIT1 gene RIT1 Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 8 615355 False 2 0;100;0 5.10 False ENSG00000143622 ENSG00000143622 HGNC:10023 SOS2 gene SOS2 Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559 False 2 0;100;0 5.10 False ENSG00000100485 ENSG00000100485 HGNC:11188 SPRTN gene SPRTN Expert Review Amber;Other Childhood solid tumours Cancer susceptibility BIALLELIC, autosomal or pseudoautosomal Ruijs-Aalfs syndrome, OMIM:616200;progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527 12503110;25261934;25501849 False 2 0;100;0 5.10 False ENSG00000010072 ENSG00000010072 HGNC:25356 TINF2 gene TINF2 Expert Review Amber;NHS GMS Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3, 613990 False 2 0;0;0 5.10 False ENSG00000092330 ENSG00000092330 HGNC:11824 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 ISCA-37401-Loss region Expert Review Green;ClinGen Childhood solid tumours Cancer susceptibility MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072 False 3 0;0;0 5.10 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss