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 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial neuroblastoma 18724359 False 3 100;0;0 1.30 False 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 Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Adenomatous Polyposis 23788249 False 3 100;0;0 1.30 False ENSG00000134982 ENSG00000134982 HGNC:583 ATM gene ATM Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 9288106 False 3 100;0;0 1.30 False ENSG00000149311 ENSG00000149311 HGNC:795 BLM gene BLM Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 11257107 False 3 100;0;0 1.30 False ENSG00000197299 ENSG00000197299 HGNC:1058 BMPR1A gene BMPR1A Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Mixed Polyposis Syndrome 23539595 False 3 100;0;0 1.30 False ENSG00000107779 ENSG00000107779 HGNC:1076 BRAF gene BRAF Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 23875798 False 3 100;0;0 1.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA1 gene BRCA1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 1}, OMIM:604370 23788249 False 3 100;0;0 1.30 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme 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 1.30 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 21964575 False 3 100;0;0 1.30 False ENSG00000136492 ENSG00000136492 HGNC:20473 BUB1B gene BUB1B Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1 257300 False 3 100;0;0 1.30 False ENSG00000156970 ENSG00000156970 HGNC:1149 CBL gene CBL Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome;CBL associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 23875798 False 3 100;0;0 1.30 False ENSG00000110395 ENSG00000110395 HGNC:1541 CDKN1C gene CDKN1C Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Beckwith-Wiedemann syndrome 10424812 False 3 100;0;0 1.30 False ENSG00000129757 ENSG00000129757 HGNC:1786 DDB2 gene DDB2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000134574 ENSG00000134574 HGNC:2718 DICER1 gene DICER1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DICER1 syndrome;Familial Multinodular Goiter 21205968 False 3 100;0;0 1.30 False ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Perlman syndrome, 267000 False 3 100;0;0 1.30 False ENSG00000144535 ENSG00000144535 HGNC:28648 ELP1 gene ELP1 Expert Review Green;Literature Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medulloblastoma, OMIM:155255 32296180 False 3 100;0;0 1.30 False ENSG00000070061 ENSG00000070061 HGNC:5959 ERCC1 gene ERCC1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal xeroderma pigmentosum, MONDO:0019600;hepatorenal syndrome, MONDO:0001382 False 3 100;0;0 1.30 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000134899 ENSG00000134899 HGNC:3437 FANCA gene FANCA Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCC gene FANCC Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 19686080 False 3 100;0;0 1.30 False ENSG00000115392 ENSG00000115392 HGNC:20748 GPR161 gene GPR161 Expert Review Green;Literature Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Medulloblastoma predisposition syndrome}, OMIM:155255 31609649 False 3 100;0;0 1.30 False ENSG00000143147 ENSG00000143147 HGNC:23694 HRAS gene HRAS Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome 23875798 False 3 100;0;0 1.30 False ENSG00000174775 ENSG00000174775 HGNC:5173 KRAS gene KRAS Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 23875798 False 3 100;0;0 1.30 False ENSG00000133703 ENSG00000133703 HGNC:6407 MAP2K1 gene MAP2K1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 23875798 False 3 100;0;0 1.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome 23875798 False 3 100;0;0 1.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126934 ENSG00000126934 HGNC:6842 MEN1 gene MEN1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia 23788249 False 3 100;0;0 1.30 False ENSG00000133895 ENSG00000133895 HGNC:7010 MLH1 gene MLH1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Lynch Syndrome; CMMRD 23788249 False 3 100;0;0 1.30 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Lynch Syndrome; CMMRD 23788249 False 3 100;0;0 1.30 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Lynch Syndrome; CMMRD 23788249 False 3 100;0;0 1.30 False ENSG00000116062 ENSG00000116062 HGNC:7329 NBN gene NBN Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Nijmegen Breakage Syndrome 12833396 False 3 100;0;0 1.30 False ENSG00000104320 ENSG00000104320 HGNC:7652 NF1 gene NF1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis 18772890 False 3 100;0;0 1.30 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acoustic neuroma 23788249 False 3 100;0;0 1.30 False ENSG00000186575 ENSG00000186575 HGNC:7773 NHP2 gene NHP2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Dyskeratosis Congenita 22965356 False 3 100;0;0 1.30 False ENSG00000145912 ENSG00000145912 HGNC:14377 NRAS gene NRAS Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 23875798 False 3 100;0;0 1.30 False ENSG00000213281 ENSG00000213281 HGNC:7989 PALB2 gene PALB2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia 17200671 False 3 100;0;0 1.30 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAX5 gene PAX5 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Clustering of Acute Lymphoblastic Leukemia 24013638 False 3 100;0;0 1.30 False ENSG00000196092 ENSG00000196092 HGNC:8619 PHOX2B gene PHOX2B Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Clustering of Neuroblastoma 22071890 False 3 100;0;0 1.30 False ENSG00000109132 ENSG00000109132 HGNC:9143 PMS2 gene PMS2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Lynch Syndrome; CMMRD 23788249 False 3 100;0;0 1.30 False ENSG00000122512 ENSG00000122512 HGNC:9122 PRKAR1A gene PRKAR1A Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Carney Complex;Familial Primary Pigmented Nodular Adrenocortical disease 11115848 False 3 100;0;0 1.30 False ENSG00000108946 ENSG00000108946 HGNC:9388 PTCH1 gene PTCH1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome 1, OMIM:109400;Gorlin syndrome 13851319 False 3 100;0;0 1.30 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cowden syndrome 4635800 False 3 100;0;0 1.30 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 23926459 False 3 100;0;0 1.30 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 17603482 False 3 100;0;0 1.30 False ENSG00000132155 ENSG00000132155 HGNC:9829 RB1 gene RB1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma 23788249 False 3 100;0;0 1.30 False ENSG00000139687 ENSG00000139687 HGNC:9884 RECQL4 gene RECQL4 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, OMIM:268400 20503338 False 3 100;0;0 1.30 False ENSG00000160957 ENSG00000160957 HGNC:9949 RET gene RET Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple Endocrine Neoplasia 23788249 False 3 100;0;0 1.30 False 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 SHOC2 gene SHOC2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 19684605 False 3 100;0;0 1.30 False ENSG00000108061 ENSG00000108061 HGNC:15454 SMAD4 gene SMAD4 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary Hemorrhagic Telangiectasia;Juvenile Polyposis 15754356 False 3 100;0;0 1.30 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA4 gene SMARCA4 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown predisposition to small cell ca;Ovary with hypercalcemia 24658002 False 3 100;0;0 1.30 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atypical rhabdoid tumor predisposition 12016529 False 3 100;0;0 1.30 False ENSG00000099956 ENSG00000099956 HGNC:11103 SOS1 gene SOS1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 23875798 False 3 100;0;0 1.30 False ENSG00000115904 ENSG00000115904 HGNC:11187 STK11 gene STK11 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Peutz Jeghers syndrome 23788249 False 3 100;0;0 1.30 False ENSG00000118046 ENSG00000118046 HGNC:11389 SUFU gene SUFU Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme 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 1.30 False ENSG00000107882 ENSG00000107882 HGNC:16466 TERT gene TERT Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme 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 False 3 100;0;0 1.30 False ENSG00000164362 ENSG00000164362 HGNC:11730 TP53 gene TP53 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li Fraumeni Syndrome 23788249 False 3 100;0;0 1.30 False ENSG00000141510 ENSG00000141510 HGNC:11998 TRIP13 gene TRIP13 Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3 617598 False 3 100;0;0 1.30 False ENSG00000071539 ENSG00000071539 HGNC:12307 TSC1 gene TSC1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 1 23788249 False 3 100;0;0 1.30 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis type 2 23788249 False 3 100;0;0 1.30 False ENSG00000103197 ENSG00000103197 HGNC:12363 VHL gene VHL Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Paraganglioma and Pheochromocytoma;VON HIPPEL-LINDAU (VHL) SYNDROME, 193300 23788249 False 3 100;0;0 1.30 False ENSG00000134086 ENSG00000134086 HGNC:12687 WRN gene WRN Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Werner Syndrome 10440702 False 3 100;0;0 1.30 False ENSG00000165392 ENSG00000165392 HGNC:12791 WT1 gene WT1 Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Wilms tumor 23788249 False 3 100;0;0 1.30 False ENSG00000184937 ENSG00000184937 HGNC:12796 XPA gene XPA Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert list;Expert Review Green Childhood solid tumours cancer susceptibility Pertinent cancer susceptibility gene panel Cancer Programme BIALLELIC, autosomal or pseudoautosomal Xeroderma Pigmentosa 22044607 False 3 100;0;0 1.30 False ENSG00000154767 ENSG00000154767 HGNC:12816