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 AIP gene AIP Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary adenoma 1, multiple types 102200 17360484 False 3 0;0;0 1.5 False ENSG00000110711 ENSG00000110711 HGNC:358 APC gene APC Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;Familial Adenomatous Polyposis False 3 0;0;0 1.5 False ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset BIALLELIC, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer;Ataxia Telangiectasia False 3 0;0;0 1.5 False ENSG00000149311 ENSG00000149311 HGNC:795 BAP1 gene BAP1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Melanocytic Tumor syndrome, Familial Uveal Melanoma False 3 0;0;0 1.5 False ENSG00000163930 ENSG00000163930 HGNC:950 BMPR1A gene BMPR1A Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Mixed Polyposis Syndrome False 3 0;0;0 1.5 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRCA1 gene BRCA1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Breast and Ovarian Cancer False 3 0;0;0 1.5 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Breast and Ovarian Cancer False 3 0;0;0 1.5 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown predisposition to ovarian cancer False 3 0;0;0 1.5 False ENSG00000136492 ENSG00000136492 HGNC:20473 CDC73 gene CDC73 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperparathyroidism-Jaw Tumor Syndrome False 3 0;0;0 1.5 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDH1 gene CDH1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer False 3 0;0;0 1.5 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDK4 gene CDK4 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Melanoma False 3 0;0;0 1.5 False ENSG00000135446 ENSG00000135446 HGNC:1773 CDKN1B gene CDKN1B Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thyroid cancer;Pituitary adenoma False 3 0;0;0 1.5 False ENSG00000111276 ENSG00000111276 HGNC:1785 CDKN2A gene CDKN2A Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Malignant Melanoma and Tumors of the Nervous system, Familial Uveal Melanoma False 3 0;0;0 1.5 False ENSG00000147889 ENSG00000147889 HGNC:1787 DICER1 gene DICER1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DICER1 syndrome, Familial Multinodular Goiter False 3 0;0;0 1.5 False ENSG00000100697 ENSG00000100697 HGNC:17098 EPCAM gene EPCAM Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lynch syndrome False 3 0;0;0 1.5 False ENSG00000119888 ENSG00000119888 HGNC:11529 EXT1 gene EXT1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chondrosarcoma 215300 23770606;29529714;10441575 False 3 0;0;0 1.5 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 2 133701 7726168;23770606 27636706;29529714 False 3 0;0;0 1.5 False ENSG00000151348 ENSG00000151348 HGNC:3513 FH gene FH Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Leiomyomatosis and Renal Cell Cancer False 3 0;0;0 1.5 False ENSG00000091483 ENSG00000091483 HGNC:3700 FLCN gene FLCN Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown renal oncocytoma False 3 0;0;0 1.5 False ENSG00000154803 ENSG00000154803 HGNC:27310 KIT gene KIT Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gastro-Intestinal Stromal Tumor False 3 0;0;0 1.5 False ENSG00000157404 ENSG00000157404 HGNC:6342 LZTR1 gene LZTR1 Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Schwannomatosis-2, susceptibility to}, 615670;(originally on Familial schwannomatosis gene panel);familial schwannomatosis 24362817 False 3 0;0;0 1.5 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAX gene MAX Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Pheochromocytoma, adrenal False 3 0;0;0 1.5 False ENSG00000125952 ENSG00000125952 HGNC:6913 MEN1 gene MEN1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;Multiple Endocrine Neoplasia False 3 0;0;0 1.5 False ENSG00000133895 ENSG00000133895 HGNC:7010 MET gene MET Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cell cancer, papillary carcinoma False 3 0;0;0 1.5 False ENSG00000105976 ENSG00000105976 HGNC:7029 MLH1 gene MLH1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer;CMMRD;Lynch Syndrome False 3 0;0;0 1.5 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer;CMMRD;Lynch Syndrome False 3 0;0;0 1.5 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer;CMMRD;Lynch Syndrome False 3 0;0;0 1.5 False ENSG00000116062 ENSG00000116062 HGNC:7329 MUTYH gene MUTYH Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 0;0;0 1.5 False ENSG00000132781 ENSG00000132781 HGNC:7527 NF1 gene NF1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Melanoma, desmoplastic neurotrophic (2);(originally on Familial schwannomatosis gene panel);Neurofibromatosis, familial spinal, 162210;Neurofibromatosis-Noonan syndrome, 601321;Neurofibromatosis, Type I;Leukemia, juvenile myelomonocytic, 607785;Neurofibromatosis, Type 1;Neurofibromatosis, type 1, 162200;Neurofibromatosis False 3 0;0;0 1.5 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 2, 101000;Acoustic neuroma;(originally on Familial schwannomatosis gene panel);Brain, CNS, and PNS Cancer;Schwannomatosis, 162091;Neurofibromatosis, Type II;Neurofibromatosis, Type 2;Meningioma, NF2-related, somatic, 607174 25725045;19880713 False 3 0;0;0 1.5 False ENSG00000186575 ENSG00000186575 HGNC:7773 NTHL1 gene NTHL1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset BIALLELIC, autosomal or pseudoautosomal Colorectal cancer False 3 0;0;0 1.5 False ENSG00000065057 ENSG00000065057 HGNC:8028 PALB2 gene PALB2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;breast, pancreas False 3 0;0;0 1.5 False ENSG00000083093 ENSG00000083093 HGNC:26144 PMS2 gene PMS2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;CMMRD;Lynch Syndrome False 3 0;0;0 1.5 False ENSG00000122512 ENSG00000122512 HGNC:9122 POLD1 gene POLD1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer;Endometrial cancer False 3 0;0;0 1.5 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Colorectal cancer False 3 0;0;0 1.5 False ENSG00000177084 ENSG00000177084 HGNC:9177 PTCH1 gene PTCH1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;Gorlin syndrome, BCC False 3 0;0;0 1.5 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cowden Syndrome;PTEN hamartoma tumor syndrome;Bannayan-Riley-Ruvalcaba syndrome, 153480;Prostate cancer, somatic}, 176807;{Glioma susceptibility 2}, 613028;Cowden syndrome 1, 158350;Thyroid carcinoma, follicular, somatic, 188470;Cowden syndrome;Macrocephaly/autism syndrome, 605309;VATER association with macrocephaly and ventriculomegaly, 76950;VATER association with macrocephaly and ventriculomegaly, 276950;Malignant melanoma, somatic, 155600;{Prostate cancer, somatic}, 176807;Squamous cell carcinoma, head and neck, somatic, 275355;Lhermitte-Duclos syndrome, 158350;{Meningioma}, 607174;Endometrial carcinoma, somatic, 608089;Cowden Disease False 3 0;0;0 1.5 False ENSG00000171862 ENSG00000171862 HGNC:9588 RAD51C gene RAD51C Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ovarian cancer False 3 0;0;0 1.5 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAD51D gene RAD51D Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ovarian cancer False 3 0;0;0 1.5 False ENSG00000185379 ENSG00000185379 HGNC:9823 RB1 gene RB1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma False 3 0;0;0 1.5 False ENSG00000139687 ENSG00000139687 HGNC:9884 RET gene RET Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia False 3 0;0;0 1.5 False ENSG00000165731 ENSG00000165731 HGNC:9967 SDHA gene SDHA Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown gastrointestinal stromal tumors False 3 0;0;0 1.5 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF2 gene SDHAF2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 0;0;0 1.5 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 0;0;0 1.5 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 0;0;0 1.5 False ENSG00000143252 ENSG00000143252 HGNC:10682 SDHD gene SDHD Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma False 3 0;0;0 1.5 False ENSG00000204370 ENSG00000204370 HGNC:10683 SMAD4 gene SMAD4 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Hemorrhagic Telangiectasia, Juvenile Polyposis False 3 0;0;0 1.5 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ovary with hypercalcemia;predisposition to small cell ca False 3 0;0;0 1.5 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown (originally on Familial schwannomatosis gene panel);Schwannomatosis;Atypical rhabdoid tumor predisposition 18285426 False 3 0;0;0 1.5 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial spinal and cranial meningiomas 23377182 False 3 0;0;0 1.5 False ENSG00000073584 ENSG00000073584 HGNC:11109 STK11 gene STK11 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz Jeghers syndrome False 3 0;0;0 1.5 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;SUFU associated Medulloblastoma False 3 0;0;0 1.5 False ENSG00000107882 ENSG00000107882 HGNC:16466 TMEM127 gene TMEM127 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Pheochromocytoma, adrenal False 3 0;0;0 1.5 False ENSG00000135956 ENSG00000135956 HGNC:26038 TP53 gene TP53 Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain, CNS, and PNS Cancer;Li Fraumeni Syndrome False 3 0;0;0 1.5 False Other - please provide details in the comments ENSG00000141510 ENSG00000141510 HGNC:11998 TSC1 gene TSC1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 1 False 3 0;0;0 1.5 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 2 False 3 0;0;0 1.5 False ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Adult solid tumours for rare disease (Version 1.21);Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma;Hemangioblastoma, cerebellar, somatic;Von Hippel-Lindau Syndrome;Erythrocytosis, familial, 2, 263400;Renal cell carcinoma, somatic, 144700;von Hippel-Lindau syndrome, 193300;Pheochromocytoma, 171300 False 3 0;0;0 1.5 False ENSG00000134086 ENSG00000134086 HGNC:12687 WT1 gene WT1 Adult solid tumours for rare disease (Version 1.21);Expert Review Green Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Wilms tumor False 3 0;0;0 1.5 False ENSG00000184937 ENSG00000184937 HGNC:12796 CHEK2 gene CHEK2 Adult solid tumours for rare disease (Version 1.21);Expert Review Amber Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Breast cancer False 2 0;0;0 1.5 False ENSG00000183765 ENSG00000183765 HGNC:16627 ALK gene ALK Expert Review Red;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset Unknown Brain, CNS, and PNS Cancer;familial neuroblastoma False 1 0;0;0 1.5 False ENSG00000171094 ENSG00000171094 HGNC:427 NBN gene NBN Expert Review Red;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset Unknown Brain, CNS, and PNS Cancer False 1 0;0;0 1.5 False ENSG00000104320 ENSG00000104320 HGNC:7652 PDGFRA gene PDGFRA Adult solid tumours for rare disease (Version 1.21);Expert Review Red Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gastrointestinal stromal tumor False 1 0;0;0 1.5 False ENSG00000134853 ENSG00000134853 HGNC:8803 PHOX2B gene PHOX2B Expert Review Red;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset Unknown Brain, CNS, and PNS Cancer;susceptibility to neuroblastoma False 1 0;0;0 1.5 False ENSG00000109132 ENSG00000109132 HGNC:9143 ISCA-37401-Loss region Expert Review Green;Adult solid tumours for rare disease (Version 1.21) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome;194072 False 3 0;0;0 1.5 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss ISCA-37431-Loss region Expert Review Green;Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8) Tumour predisposition - adult onset MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;dysmorphic features, cardiac anomalies and mental retardation;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb;613675 False 3 0;0;0 1.5 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss