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 APC gene APC Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True ENSG00000134982 ENSG00000134982 HGNC:583 LZTR1 gene LZTR1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Schwannomatosis-2, susceptibility to}, 615670; (originally on Familial schwannomatosis gene panel);familial schwannomatosis PubMed: 24362817 False 3 100;0;0 1.15 True ENSG00000099949 ENSG00000099949 HGNC:6742 MLH1 gene MLH1 Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True ENSG00000116062 ENSG00000116062 HGNC:7329 NF1 gene NF1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, 162200; Leukemia, juvenile myelomonocytic, 607785; Melanoma, desmoplastic neurotrophic (2); Neurofibromatosis, familial spinal, 162210; Neurofibromatosis-Noonan syndrome, 601321;Neurofibromatosis, Type 1;Neurofibromatosis, Type I;(originally on Familial schwannomatosis gene panel) False 3 0;0;0 1.15 True ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, Type 2;Brain, CNS, and PNS Cancer;Neurofibromatosis, Type II;Neurofibromatosis, type 2, 101000; Meningioma, NF2-related, somatic, 607174; Schwannomatosis, 162091; (originally on Familial schwannomatosis gene panel) PMID: 25725045;PMID: 19880713 False 3 100;0;0 1.15 True ENSG00000186575 ENSG00000186575 HGNC:7773 PMS2 gene PMS2 Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True ENSG00000122512 ENSG00000122512 HGNC:9122 PTCH1 gene PTCH1 Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert Review Green;Other Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes BIALLELIC, autosomal or pseudoautosomal Cowden syndrome 1, 158350;Lhermitte-Duclos syndrome, 158350;Bannayan-Riley-Ruvalcaba syndrome, 153480;{Meningioma}, 607174;{Glioma susceptibility 2}, 613028;Macrocephaly/autism syndrome, 605309;PTEN hamartoma tumor syndrome;VATER association with macrocephaly and ventriculomegaly, 76950;Prostate cancer, somatic}, 176807;Thyroid carcinoma, follicular, somatic, 188470;Malignant melanoma, somatic, 155600;Endometrial carcinoma, somatic, 608089;Squamous cell carcinoma, head and neck, somatic, 275355;VATER association with macrocephaly and ventriculomegaly, 276950;{Prostate cancer, somatic}, 176807;Cowden Syndrome;Cowden Disease False 3 0;0;0 1.15 False ENSG00000171862 ENSG00000171862 HGNC:9588 SMARCB1 gene SMARCB1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schwannomatosis; (originally on Familial schwannomatosis gene panel) PubMed: 18285426 False 3 0;0;0 1.15 True ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCE1 gene SMARCE1 Expert Review Green;Literature Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Meningioma, familial, susceptibility to}, OMIM:607174 PMID: 23377182 False 3 100;0;0 1.15 True ENSG00000073584 ENSG00000073584 HGNC:11109 SUFU gene SUFU Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal cell nevus syndrome, OMIM:109400;{Medulloblastoma}, OMIM:155255;{Meningioma, familial, susceptibility to}, OMIM:607174 False 3 0;0;0 1.15 True ENSG00000107882 ENSG00000107882 HGNC:16466 TP53 gene TP53 Emory Genetics Laboratory;Expert Review Green Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain, CNS, and PNS Cancer False 3 0;0;0 1.15 True Other - please provide details in the comments ENSG00000141510 ENSG00000141510 HGNC:11998 VHL gene VHL Eligibility statement prior genetic testing;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Hippel-Lindau syndrome, OMIM:193300;Pheochromocytoma, OMIM:171300;Hemangioblastoma, cerebellar, somatic False 3 0;0;0 1.15 True ENSG00000134086 ENSG00000134086 HGNC:12687 ISCA-37431-Loss region Expert Review Green;ClinGen Familial Tumours Syndromes of the central & peripheral Nervous system Muscle and nerve Tumour syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;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;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 3 0;0;0 1.15 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss